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Lista de obras de Xavier Estivill Palleja

5′ UTR-region SNP in the NTRK3 gene is associated with panic disorder

article

A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

artículo científico publicado en 2001

A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders.

artículo científico publicado en 2007

A brain-derived neurotrophic factor haplotype is associated with therapeutic response in obsessive-compulsive disorder

artículo científico publicado en 2009

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

artículo científico publicado en 1987

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene

artículo científico publicado en 1998

A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations ⬇️

artículo científico publicado en 1994

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

artículo científico publicado en 2013

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families

artículo científico publicado en 2002

A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.

artículo científico publicado en 1994

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.

artículo científico publicado en 2015

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

artículo científico publicado en 1996

A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: identification, regional distribution, and clinical presentation

artículo científico publicado en 1992

A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways.

artículo científico publicado en 2016

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

artículo científico publicado en 2010

A genome-wide association study of anorexia nervosa

artículo científico publicado en 2014

A haplotype of glycogen synthase kinase 3β is associated with early onset of unipolar major depression

artículo científico publicado en 2010

A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes

artículo científico publicado en 1999

A highly expressed miR-101 isomiR is a functional silencing small RNA

artículo científico publicado en 2013

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

article

A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region

artículo científico publicado en 1996

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

artículo científico publicado en 1999

A myriad of miRNA variants in control and Huntington's disease brain regions detected by massively parallel sequencing

artículo científico publicado en 2010

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

article

A new aspartyl protease on 21q22.3, BACE2, is highly similar to Alzheimer's amyloid precursor protein beta-secretase

artículo científico publicado en 2000

A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart

artículo científico publicado en 1995

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype

article

A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis

artículo científico publicado en 1990

A non-biased framework for the annotation and classification of the non-miRNA small RNA transcriptome

artículo científico publicado en 2011

A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

article

A novel common variant in DCST2 is associated with length in early life and height in adulthood

artículo científico publicado en 2014

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

artículo científico publicado en 1995

A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene

article

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

scientific article published on April 1996

A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity.

artículo científico publicado en 2012

A patient with autistic disorder and a 20/22 chromosomal translocation.

artículo científico publicado en 1998

A polymorphic DNA probe from chromosome 7 (7q22)

artículo científico publicado en 1990

A rapid method to identify cosmids containing rare restriction sites

artículo científico publicado en 1987

A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

artículo científico publicado en 1992

A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness

artículo científico publicado en 2006

A tetranucleotide repeat polymorphism in the cystic fibrosis gene

artículo científico publicado en 1991

ADRB2 Gly16Arg polymorphism, asthma control and lung function decline

ALDH5A1 variability in opioid dependent patients could influence response to methadone treatment

artículo científico publicado en 2013

ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis

article

Abdominal aortic aneurysms and autosomal dominant polycystic kidney disease

artículo científico publicado en 1996

Aberrant RNA splicing of the protein C and protein S genes in healthy individuals

article

Aberrant brain microRNA target and miRISC gene expression in the anx/anx anorexia mouse model

artículo científico publicado en 2012

Absence of cytogenetic effects in children and adults with attention-deficit/hyperactivity disorder treated with methylphenidate

artículo científico publicado en 2009

Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency

article

Accounting for uncertainty when assessing association between copy number and disease: a latent class model

artículo científico publicado en 2009

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

artículo científico publicado en 2013

Activating Mutations Cluster in the “Molecular Brake” Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues

article

Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.

artículo científico publicado en 2001

Additional support for the association of SLITRK1 var321 and Tourette syndrome

artículo científico publicado en 2010

Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility

artículo científico publicado en 2001

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

artículo científico publicado en 2007

Allele balance bias identifies systematic genotyping errors and false disease associations

article

Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene

artículo científico publicado en 1999

Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders

artículo científico publicado en 2009

Alterations of neocortical pyramidal cell phenotype in the Ts65Dn mouse model of Down syndrome: effects of environmental enrichment

artículo científico publicado en 2003

Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia.

artículo científico publicado en 2007

Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA.

artículo científico publicado en 1997

Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome

artículo científico publicado en 1999

Amplifying dinucleotide microsatellite loci from bone and tooth samples of up to 5000 years of age: more inconsistency than usefulness

artículo científico publicado en 1995

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss

artículo científico publicado en 2008

Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 ( SCA1 ) gene in schizophrenic patients

article

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes

article

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)

article

Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds

article

Aneuploidy: from a physiological mechanism of variance to Down syndrome

artículo científico publicado en 2009

Anticipation is not associated with CAG repeat expansion in parent-offspring pairs of patients affected with schizophrenia.

artículo científico publicado en 1999

Antidepressant treatment response of postpartum depression: Clinical and genetic factors

Are MYO1C and MYO1F associated with hearing loss?

artículo científico publicado en 2008

Assessment of the neuropeptide S system in anxiety disorders

artículo científico publicado en 2010

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

artículo científico publicado en 1995

Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: a case-control study

artículo científico publicado en 2009

Association between the NMDA glutamate receptor GRIN2B gene and obsessive-compulsive disorder

artículo científico publicado en 2012

Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations

artículo científico publicado en 2004

Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations

artículo científico publicado en 2005

Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders

artículo científico publicado en 2008

Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders

Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

artículo científico publicado en 2009

Association of irisin with fat mass, resting energy expenditure, and daily activity in conditions of extreme body mass index.

artículo científico publicado en 2014

Association of neurexin 3 polymorphisms with smoking behavior

artículo científico publicado en 2012

Association study of 10 genes encoding neurotrophic factors and their receptors in adult and child attention-deficit/hyperactivity disorder

artículo científico publicado en 2008

Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women

artículo científico publicado en 2010

Association study of proposed candidate genes/regions in a population of Spanish asthmatics

scientific article published on 01 January 2000

Association study of the chromosomal region containing the FCER2 gene suggests it has a regulatory role in atopic disorders

artículo científico publicado en 2000

Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation Rapid Communication

scientific article published on 01 July 1997

Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion

artículo científico publicado en 1996

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

artículo científico publicado en 2009

BDNF variability in opioid addicts and response to methadone treatment: preliminary findings.

artículo científico publicado en 2008

BLUEPRINT to decode the epigenetic signature written in blood.

artículo científico publicado en 2012

Bayesian Inference Of Cancer Driver Genes Using Signatures Of Positive Selection

article

Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis

artículo científico publicado en 2019

Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypes

artículo científico publicado en 2014

Blood levels of brain-derived neurotrophic factor correlate with several psychopathological symptoms in anorexia nervosa patients.

artículo científico publicado en 2007

Brain-derived neurotrophic factor Val66Met and psychiatric disorders: meta-analysis of case-control studies confirm association to substance-related disorders, eating disorders, and schizophrenia.

artículo científico publicado en 2007

Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?

artículo científico publicado en 2004

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover

artículo científico publicado en 1991

CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.

artículo científico publicado en 1999

CFTR and asthma in the French EGEA study

article

CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.

artículo científico publicado en 1996

CHRONIC T-CELL LYMPHOCYTOSIS ASSOCIATED WITH PURE RED CELL APLASIA, THYMOMA AND HYPOGAMMAGLOBULINAEMIA

artículo científico publicado en 1985

CYP2D6 polymorphism in patients with eating disorders

artículo científico publicado en 2010

Candidate genes for panic disorder: insight from human and mouse genetic studies.

artículo científico publicado en 2007

Candidate locus for a nuclear modifier gene for maternally inherited deafness

artículo científico publicado en 2000

Características genéticas de pacientes reumatológicos que desarrollan lesiones cutáneas inflamatorias inducidas por fármacos biológicos

Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families

article

Case-control study of six genes asymmetrically expressed in the two cerebral hemispheres: association of BAIAP2 with attention-deficit/hyperactivity disorder

artículo científico publicado en 2009

Case???control and combined family trios analysis of three polymorphisms in the ghrelin gene in European patients with anorexia and bulimia nervosa

article

Chapter 22: Molecular Basis of Deafness due to Mutations in the Connexin26 Gene (GJB2)

article

Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1.

artículo científico publicado en 1995

Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events

article

Characterization of a mouse model overexpressing beta-site APP-cleaving enzyme 2 reveals a new role for BACE2.

artículo científico publicado en 2009

Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31.

artículo científico publicado en 2001

Characterization of the segmental duplication LCR7-20 in the human genome

artículo científico publicado en 2004

Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1).

artículo científico publicado en 1994

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

artículo científico publicado en 2002

Chromosome 9p deletions in cutaneous malignant melanoma tumors: the minimal deleted region involves markers outside the p16 (CDKN2) gene.

artículo científico publicado en 1995

Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13)

artículo científico publicado en 1986

Circulating Betatrophin Levels Are Increased in Anorexia and Decreased in Morbidly Obese Women

artículo científico publicado en 2015

Circulating miRNAs, isomiRs and small RNA clusters in human plasma and breast milk

artículo científico publicado en 2018

Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1-->qter duplication

artículo científico publicado en 2001

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences

artículo científico publicado en 1995

Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome

artículo científico publicado en 1999

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred

scientific article published on 01 January 1995

Cloning (CAG/GTC)n STSs by an Alu-(CAG/GTC)n PCR method: an approach to human chromosome 12 and spinocerebellar ataxia 2 (SCA2)

artículo científico publicado en 1996

Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases

scientific journal article

Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency

scientific journal article

Cloning of S4D-SRCRB, a new soluble member of the group B scavenger receptor cysteine-rich family (SRCR-SF) mapping to human chromosome 7q11.23.

artículo científico publicado en 2002

Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region.

artículo científico publicado en 1999

Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24-->q26 and 19p13.3-->p12.

artículo científico publicado en 2000

Cloning, chromosome mapping and expression analysis of the HIRA gene from Drosophila melanogaster

artículo científico

Cloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene

artículo científico publicado en 1999

Cloning, mapping and expression analysis of C15orf4, a novel human gene with homology to the yeast mitochondrial ribosomal protein Ym130 gene

artículo científico publicado en 2001

Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b

artículo científico publicado en 2000

Cluster analysis of clinical data identifies fibromyalgia subgroups

artículo científico publicado en 2013

Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene

artículo científico publicado en 2006

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus

artículo científico publicado en 2002

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

artículo científico publicado en 2000

Combined family trio and case-control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa

artículo científico publicado en 2004

Common variants at 12q15 and 12q24 are associated with infant head circumference

artículo científico publicado en 2012

Complete detection of mutations in cystic fibrosis patients of Native American origin.

artículo científico publicado en 1994

Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome

artículo científico publicado en 2006

Complexity in a monogenic disease

Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients.

artículo científico publicado en 2010

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

artículo científico publicado en 1997

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

artículo científico publicado en 2001

Connexin mutations in hearing loss, dermatological and neurological disorders.

artículo científico publicado en 2002

Connexin-26 mutations in sporadic and inherited sensorineural deafness

scientific journal article

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

artículo científico publicado en 1997

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

artículo científico publicado en 2007

Contribution of NTRK2 to the genetic susceptibility to anorexia nervosa, harm avoidance and minimum body mass index

artículo científico publicado en 2005

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

artículo científico publicado en 2016

Contribution of the serotoninergic system to anxious and depressive traits that may be partially responsible for the phenotypical variability of bulimia nervosa.

artículo científico publicado en 2006

Cooperation to amplify gene-dosage-imbalance effects

artículo científico publicado en 2006

Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies

artículo científico publicado en 2007

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

artículo científico publicado en 2007

Copy number variants: a common mechanism in complex diseases

Correction: Genetic Structure of Europeans: A View from the North–East.

artículo científico publicado en 2010

Correction: Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism.

artículo científico publicado en 2010

Correction: PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data.

artículo científico publicado en 2013

Correlation of BDNF blood levels with interoceptive awareness and maturity fears in anorexia and bulimia nervosa patients.

artículo científico publicado en 2010

Cosmid contig and transcriptional map of three regions of human chromosome 21q22: identification of 37 novel transcripts by direct selection

artículo científico publicado en 1997

Cystic fibrosis in Finland: a molecular and genealogical study

artículo científico publicado en 1989

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

article

Cystic fibrosis in a low-incidence population: two major mutations in Finland

artículo científico publicado en 1994

Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles

article

Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin

artículo científico publicado en 1992

Cystic fibrosis mutation delta F508 in Finland: other mutations predominate

artículo científico publicado en 1990

Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as ΔF508 homozygotes

article

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

artículo científico publicado en 2001

Cystic fibrosis transmembrane regulator (CFTR) DeltaF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. PANKRAS II Study Group

artículo científico publicado en 2001

D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness.

artículo científico publicado en 2011

DNA amplification and its application in medicine

artículo científico publicado en 1991

DNA hypomethylation at ALOX12 is associated with persistent wheezing in childhood

artículo científico publicado en 2012

DNA methylation in neurodegenerative disorders: a missing link between genome and environment? ⬇️

artículo científico publicado el 4 de mayo de 2011

DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways

artículo científico publicado en 2000

DYRK1A accumulates in splicing speckles through a novel targeting signal and induces speckle disassembly

artículo científico publicado en 2003

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome

artículo científico publicado en 2008

Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes

artículo científico publicado en 1998

De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene

article

Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients

artículo científico publicado en 2009

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis

artículo científico publicado en 2011

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.

artículo científico publicado en 2010

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

artículo científico publicado en 2009

Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis

artículo científico publicado en 2010

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

artículo científico

Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease

artículo científico publicado en 2009

Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.

artículo científico publicado en 2016

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.

artículo científico publicado en 1999

Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus

artículo científico publicado en 1989

Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus

artículo científico publicado en 1988

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations

artículo científico publicado en 2008

Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA

artículo científico publicado en 1988

Development in a 46 XX boy with positive SRY gene

artículo científico publicado en 1996

Developmental analysis of Lingo-1/Lern1 protein expression in the mouse brain: interaction of its intracellular domain with Myt1l

artículo científico publicado en 2008

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing

artículo científico publicado en 2014

Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?

artículo científico publicado en 2004

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

artículo científico publicado en 2005

Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder.

artículo científico publicado en 2010

Differential responses to anxiogenic drugs in a mouse model of panic disorder as revealed by Fos immunocytochemistry in specific areas of the fear circuitry.

artículo científico publicado en 2006

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

article

Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families

artículo científico publicado en 1990

Dose and time effects of solar-simulated ultraviolet radiation on the in vivo human skin transcriptome

artículo científico publicado en 2019

Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.

artículo científico publicado en 1997

Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis.

artículo científico publicado en 2001

Dyrk1A expression pattern supports specific roles of this kinase in the adult central nervous system

artículo científico publicado en 2003

Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice

artículo científico publicado en 2002

Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis

artículo científico publicado en 2018

Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene

article

Effect of a side reaction involving structural changes of the surfactants on the shape control of cobalt nanoparticles.

artículo científico publicado en 2014

Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5.

artículo científico publicado en 2008

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements

artículo científico publicado en 2003

Erratum: Common variants at 12q15 and 12q24 are associated with infant head circumference

scholarly article published in Nature Genetics

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

artículo científico publicado en 2002

Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

article

Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation

artículo científico publicado en 2006

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

scientific article published on 01 January 1996

Evidence for the biogenesis of more than 1,000 novel human microRNAs

artículo científico publicado en 2014

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

artículo científico publicado en 2011

Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia

artículo científico publicado en 2016

Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB.

artículo científico publicado en 2007

Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa

artículo científico publicado en 2017

Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea

artículo científico publicado en 2002

Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea

artículo científico publicado en 2002

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected

article

Extensive genotyping of the BDNF and NTRK2 genes define protective haplotypes against obsessive-compulsive disorder

artículo científico publicado en 2007

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.

artículo científico publicado en 2013

Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies

article

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

artículo científico publicado en 2008

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides ⬇️

artículo científico publicado en 1998

Fat mass and obesity-associated gene (FTO) in eating disorders: evidence for association of the rs9939609 obesity risk allele with bulimia nervosa and anorexia nervosa

artículo científico publicado en 2012

Five new microsatellite polymorphisms at the q21 region of human chromosome 21.

artículo científico publicado en 1995

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins

artículo científico publicado en 1994

Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

article

Functional genomics of Down syndrome: a multidisciplinary approach

artículo científico publicado en 2001

Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders

artículo científico publicado en 2009

Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11

artículo científico publicado en 1986

GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS

artículo científico publicado en 1988

GSTM1 polymorphisms modify the effect of maternal smoking during pregnancy on cognitive functioning in preschoolers

artículo científico publicado en 2009

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

artículo científico publicado en 2019

Gene expression signatures in breast cancer distinguish phenotype characteristics, histologic subtypes, and tumor invasiveness.

artículo científico publicado en 2010

Genes as causes: scientific fact or simplistic thinking?

artículo científico publicado en 2000

Genetic analysis of cystic fibrosis

artículo científico publicado en 1991

Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility

artículo científico publicado en 2008

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

article

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

artículo científico publicado en 2012

Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study

artículo científico publicado en 1990

Genetic engineering approaches for organ transplantation

scientific article published on 01 September 1999

Genetic epistasis in female suicide attempters.

artículo científico publicado en 2012

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs

artículo científico publicado en 2021

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria

artículo científico publicado en 1995

Genetic structure of Europeans: a view from the North-East

artículo científico publicado en 2009

Genetic susceptibility to obsessive-compulsive hoarding: the contribution of neurotrophic tyrosine kinase receptor type 3 gene

artículo científico publicado en 2008

Genetic variants and abnormal processing of pre-miR-182, a circadian clock modulator, in major depression patients with late insomnia.

artículo científico publicado en 2010

Genetic variants of the FADS gene cluster and ELOVL gene family, colostrums LC-PUFA levels, breastfeeding, and child cognition

artículo científico publicado en 2011

Genetic variation and alternative splicing

artículo científico publicado en 2015

Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population

article

Genetic variations of the bitter taste receptor TAS2R38 are associated with obesity and impact on single immune traits.

artículo científico publicado en 2016

Gene–environment interaction in anorexia nervosa: relevance of non-shared environment and the serotonin transporter gene

article

Genome assembly comparison identifies structural variants in the human genome.

artículo científico publicado en 2006

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-wide DNA methylation study in human placenta identifies novel loci associated with maternal smoking during pregnancy

artículo científico publicado en 2016

Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system

artículo científico publicado en 2014

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa.

artículo científico publicado en 2019

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

artículo científico publicado en 2019

Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

artículo científico publicado en 2003

Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility

artículo científico publicado en 2015

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

artículo científico publicado en 2003

Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome

artículo científico publicado en 1996

Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene

artículo científico publicado en 1997

Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes

artículo científico publicado en 2001

Genomic structure and organization of the human rBAT gene (SLC3A1).

artículo científico publicado en 1996

Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.

artículo científico publicado en 2000

Geographic distribution and origin of CFTR mutations in Germany

artículo científico publicado en 1996

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

artículo científico publicado en 1997

Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

article

Global variation in copy number in the human genome

artículo científico publicado en 2006

HLA Class II Genes in Soybean Epidemic Asthma Patients

article

HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

artículo científico publicado en 2015

Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity.

artículo científico publicado en 2004

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers

artículo científico publicado en 1996

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphicCFTR DNA markers

article

Haplotype analysis to determine the position of a mutation among closely linked DNA markers

article

Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene

artículo científico publicado en 2000

Heritability and Genome-Wide Association Analyses of Sleep Duration in Children: The EAGLE Consortium

artículo científico publicado en 2016

Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens

artículo científico publicado en 2000

High carrier frequency of the 35delG deafness mutation in European populations

article published in 2000

High conservation of sequences involved in cystic fibrosis mutations in five mammalian species

artículo científico publicado en 1991

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes

article

High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness

article

High risk of lifetime history of suicide attempts among CYP2D6 ultrarapid metabolizers with eating disorders

artículo científico publicado en 2011

Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G --> A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency

article

Homozygosity for the protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors

artículo científico publicado en 2000

Human Early Life Exposome (HELIX) study: a European population-based exposome cohort

artículo científico publicado en 2018

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

artículo científico publicado en 2006

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

artículo científico publicado en 2002

Human chromosome 7: DNA sequence and biology

artículo científico publicado en 2003

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

artículo científico publicado en 2002

Human genetics branches out in Barcelona

artículo científico publicado en 2008

Human genetics moves from clinic to bench--and back

artículo científico publicado en 2005

Human microRNAs miR-22, miR-138-2, miR-148a, and miR-488 are associated with panic disorder and regulate several anxiety candidate genes and related pathways

artículo científico publicado en 2010

Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome

artículo científico publicado en 1999

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation

artículo científico publicado en 2004

Human nuclear transcription factor gene CREM: genomic organization, mutation screening, and association analysis in panic disorder

artículo científico publicado en 2003

Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis

artículo científico publicado en 1996

Hypertension in Polycystic Kidney Disease Types 1 and 2 and Its Effect on the Age of Onset of End-Stage Renal Disease

artículo científico publicado en 1997

Hypothalamus transcriptome profile suggests an anorexia-cachexia syndrome in the anx/anx mouse model

artículo científico publicado en 2008

INDIRECT CYSTIC FIBROSIS CARRIER DETECTION

artículo científico publicado en 1987

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

artículo científico publicado en 2007

Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24

artículo científico publicado en 2001

Identification and characterization of UBXD1, a novel UBX domain-containing gene on human chromosome 19p13, and its mouse ortholog

artículo científico publicado en 2001

Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome

artículo científico publicado en 2003

Identification and expression analysis of C15orf3, a novel gene on chromosome 15q21.1-->q21.2.

artículo científico publicado en 2000

Identification and expression analysis of C3orf1, a novel human gene homologous to the Drosophila RP140-upstream gene

artículo científico publicado en 2000

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

artículo científico publicado en 2012

Identification of C15orf5, a heart-enriched transcript on chromosome 15q23-q24.

artículo científico publicado en 2001

Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome

artículo científico publicado en 2016

Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome

artículo científico publicado en 2001

Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis (CFTR) gene

article

Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients

artículo científico publicado en 1992

Identification of a new frameshift mutation (1801delAG) in the ALD gene

article

Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.

artículo científico publicado en 1993

Identification of copy number variants defining genomic differences among major human groups

artículo científico publicado en 2009

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

artículo científico publicado en 2001

Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization

artículo científico publicado en 2006

Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment

artículo científico publicado en 2009

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

artículo científico publicado en 2000

Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3.

artículo científico publicado en 1995

Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families

article

Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene

artículo científico publicado en 1996

Identification of two new nonsense mutations Q311X and W326X in Exon 2 of the adrenoleukodystrophy (ALD) gene

article

Immune thrombocytopenic purpura secondary to varicella in an adult. Presentation of a case and review

artículo científico publicado en 1983

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

article

Independent Contribution of Common CFTR Variants to Chronic Pancreatitis

article

Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene

artículo científico publicado en 1994

Influence of fetal glutathione S-transferase copy number variants on adverse reproductive outcomes

artículo científico publicado en 2012

Influence of glutathione S-transferase polymorphisms on cognitive functioning effects induced by p,p'-DDT among preschoolers

artículo científico publicado en 2008

Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A ( P16INK4A ) gene

article

Integration of 30 CA-repeat markers into the cytogenetic, genetic and YAC maps of human chromosome 21.

artículo científico publicado en 1996

Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability

artículo científico publicado en 2007

Interaction of SLC1A1 gene variants and life stress on pharmacological resistance in obsessive-compulsive disorder.

artículo científico publicado en 2012

Interfamilial and intrafamilial variability of clinical expression in ADPKD.

artículo científico publicado en 1995

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

artículo científico

Intratumoral activation of cyclophosphamide by retroviral transfer of the cytochrome P450 2B1 in a pancreatic tumor model. Combination with the HSVtk/GCV system

artículo científico publicado en 2002

Isolation and characterisation of a novel human gene (C9orf11) on chromosome 9p21, a region frequently deleted in human cancer

artículo científico publicado en 2000

Isolation and characterization of 14 CA-repeat microsatellites from human chromosome 21.

artículo científico publicado en 1993

Isolation and genomic characterization of the TUPLE1/HIRA gene of the pufferfish Fugu rubripes

artículo científico publicado en 1998

Isolation and mapping of a polymorphic DNA sequence pXH3 on chromosome X [DXS235]

artículo científico publicado en 1988

Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless

artículo científico publicado en 1988

Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP

artículo científico publicado en 1989

Joint effect of obesity and TNFA variability on asthma: two international cohort studies

artículo científico publicado en 2009

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

artículo científico publicado en 2012

LRRN6A/LERN1 (leucine-rich repeat neuronal protein 1), a novel gene with enriched expression in limbic system and neocortex.

artículo científico publicado en 2003

Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions

artículo científico publicado en 1998

Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.

artículo científico publicado en 2001

Large deletions of chromosome 9p in cutaneous malignant melanoma identify patients with a high risk of developing metastases. Hospital Clinic Malignant Melanoma Group, University of Barcelona

artículo científico publicado en 2000

Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder

artículo científico publicado en 2005

Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.

artículo científico publicado en 2001

Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study

artículo científico publicado en 1988

Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations

artículo científico publicado en 1989

Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

artículo científico publicado en 1997

Linkage of DNA probe B79a (D7S13) to cystic fibrosis

artículo científico publicado en 1987

Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.

artículo científico publicado en 1996

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

artículo científico publicado en 1997

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

artículo científico publicado en 2007

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss

artículo científico publicado en 2001

Mapping of the human Zn-α 2 -glycoprotein gene (AZGP1) to chromosome 7q22 by in situ hybridization

article

Maternal C-reactive protein levels in pregnancy are associated with wheezing and lower respiratory tract infections in the offspring

artículo científico publicado en 2010

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

artículo científico publicado en 2019

Maternal transmission in sporadic Huntington's disease

artículo científico publicado en 1997

Maximizing association statistics over genetic models

article

Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type.

artículo científico publicado en 2003

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

artículo científico publicado en 2010

MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients

artículo científico publicado en 2013

MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function

artículo científico publicado en 2011

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

artículo científico publicado en 1993

Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2

artículo científico publicado en 1997

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: Study of 19 heterozygous and 2 homozygous patients

scholarly article by T Casals et al published 1997 in Human Mutation

Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients

artículo científico publicado en 1997

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

artículo científico publicado en 2015

Missense mutations in the cystic fibrosis gene in adult patients with asthma

article

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment

artículo científico publicado en 2006

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness

artículo científico publicado en 2001

Molecular analysis of the IT15 gene in 79 Spanish families with Huntington's disease: diagnostic confirmation and presymptomatic diagnosis

artículo científico publicado en 1997

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

article

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

artículo científico publicado en 2000

Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor

artículo científico publicado en 2007

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.

artículo científico publicado en 1995

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

artículo científico publicado en 2000

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

article

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene

artículo científico publicado en 1996

Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction

artículo científico publicado en 2004

MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene

artículo científico publicado en 1991

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother

scientific article published on 01 November 1994

Multiplex PCR amplification of three microsatellites within the CFTR gene

artículo científico publicado el 1 de agosto de 1992

Murine models for Down syndrome

artículo científico publicado en 2001

Murine segmental duplications are hot spots for chromosome and gene evolution

article

Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis

artículo científico publicado en 1992

Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families

artículo científico publicado en 1991

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

artículo científico publicado en 2006

Mutational analysis within the 3′ region of the PKD1 gene

article

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

article

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

artículo científico publicado en 2000

Mutations and Intragenic Polymorphisms in the Diagnosis of Autosomal Dominant Polycystic Kidney Disease Type 1

artículo científico publicado en 1997

Mutations in DCHS1 cause mitral valve prolapse

scientific journal article

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

artículo científico publicado en 1999

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

artículo científico publicado en 2002

Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation

artículo científico publicado en 2000

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

artículo científico publicado en 2016

Neurobehavioral development of two mouse lines commonly used in transgenic studies

artículo científico publicado en 2002

Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome.

artículo científico publicado en 2001

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

article by Conxi Lazaro et al published 24 November 1994 in The New England Journal of Medicine

New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines

artículo científico publicado en 1994

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

artículo científico publicado en 2012

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

artículo científico publicado en 2013

Non-coding recurrent mutations in chronic lymphocytic leukaemia

artículo científico publicado en 2015

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

artículo científico publicado en 1999

Non-viral vector-mediated uptake, distribution, and stability of chimeraplasts in human airway epithelial cells

artículo científico publicado en 2002

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

artículo científico publicado en 2004

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene

article

Nucleotide variation in central nervous system genes among male suicide attempters

artículo científico publicado en 2010

Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism

artículo científico publicado en 2009

On dendrites in Down syndrome and DS murine models: a spiny way to learn.

artículo científico publicado en 2004

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants

article

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants

scientific article published on 01 January 2000

Orexin and sleep quality in anorexia nervosa: Clinical relevance and influence on treatment outcome

artículo científico publicado en 2015

Origin of primate orphan genes: a comparative genomics approach

artículo científico publicado en 2009

Overexpression of miR-128 specifically inhibits the truncated isoform of NTRK3 and upregulates BCL2 in SH-SY5Y neuroblastoma cells

artículo científico publicado en 2010

Overexpression of the CHRNA5/A3/B4 genomic cluster in mice increases the sensitivity to nicotine and modifies its reinforcing effects

artículo científico publicado en 2011

PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family.

artículo científico publicado en 2001

PALML, a novel paralemmin-related gene mapping on human chromosome 1p21

scientific journal article

PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome

artículo científico publicado en 2019

PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation

artículo científico publicado en 1990

PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS IN A HIGHLY HETEROGENEOUS POPULATION

scholarly article by TERESA CASALS et al published March 1996 in Prenatal Diagnosis

PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS IN A HIGHLY HETEROGENEOUS POPULATION

artículo científico publicado en 1996

PTOV1, a novel protein overexpressed in prostate cancer containing a new class of protein homology blocks

artículo científico publicado en 2001

Patterns of polymorphism and linkage disequilibrium for cystic fibrosis

artículo científico publicado en 1987

PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data

artículo científico publicado en 2013

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3

artículo científico publicado en 2004

Phosphorylation of calcipressin 1 increases its ability to inhibit calcineurin and decreases calcipressin half-life

artículo científico publicado en 2003

Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus.

artículo científico publicado en 1987

Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation

artículo científico publicado en 1989

Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients

artículo científico publicado en 1997

Positionally cloned genes and age-specific effects in asthma and atopy: an international population-based cohort study (ECRHS).

artículo científico publicado en 2009

Positive selection and gene conversion drive the evolution of a brain-expressed snoRNAs cluster

artículo científico publicado en 2009

Predominant occurrence of somatic mutations of theNF2 gene in meningiomas and schwannomas

article

Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles

artículo científico publicado en 1991

Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations

artículo científico publicado en 1991

Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.

artículo científico publicado en 1995

Prenatal diagnosis of neurofibromatosis type 1: from flanking RFLPs to intragenic microsatellite markers

artículo científico publicado en 1995

Prenatal diagnosis of sporadic neurofibromatosis 1

artículo científico publicado en 1992

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

article

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

artículo científico publicado en 1999

Prenatal diagnosis of werdnig-hoffmann disease: DNA analysis of a mummified umbilical cord using closely linked microsatellite markers

artículo científico publicado en 1994

Prenatal exposure to mixtures of xenoestrogens and genome-wide DNA methylation in human placenta.

artículo científico publicado en 2015

Prenatal exposure to mixtures of xenoestrogens and repetitive element DNA methylation changes in human placenta

artículo científico publicado en 2014

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees

scientific article (publication date: 2001)

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.

artículo científico publicado en 1993

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

artículo científico publicado en 2003

ProSeeK: a web server for MLPA probe design

artículo científico publicado en 2008

Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).

artículo científico publicado en 2008

Progress in the analysis of cystic fibrosis: prenatal diagnosis and carrier detection

artículo científico publicado en 1989

Protein C deficiency: Identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families

article

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency

article

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency

artículo científico publicado en 1999

Qualitative and quantitative changes in skeletal muscle mtDNA and expression of mitochondrial-encoded genes in the human aging process

artículo científico publicado en 1997

Quantitative assessment of chimeraplast stability in biological fluids by polyacrylamide gel electrophoresis and laser-assisted fluorescence analysis

artículo científico publicado en 2002

RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration.

artículo científico publicado en 2007

Rapid fetal karyotype from cystic hygroma and pleural effusions

artículo científico publicado en 1995

Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis

artículo científico publicado en 1997

Rare variants in the promoter of the fragile X syndrome gene (FMR1)

article

Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease

artículo científico publicado en 2015

Rearrangement of the c-myc oncogene with heavy-chain immunoglobulin enhancer in tumor DNA from an acute lymphoblastic leukemia patient

artículo científico publicado en 1987

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.

artículo científico publicado en 1999

Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis

artículo científico publicado en 2000

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

artículo científico publicado en 1991

Recurrence of the PROC gene mutation R178Q: Independent origins in Spanish protein C deficiency patients

article

Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patients

scientific article published on 01 January 1996

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

artículo científico publicado en 2003

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA amount in human brain with aging

artículo científico publicado en 1997

Regional distribution of cystic fibrosis linked DNA haplotypes in Italy, a collaborative study

artículo científico publicado en 1990

Relationship between genome and epigenome--challenges and requirements for future research

artículo científico publicado en 2014

Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

artículo científico publicado en 1996

Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin.

artículo científico publicado en 2007

Replication of LCE3C–LCE3B CNV as a Risk Factor for Psoriasis and Analysis of Interaction with Other Genetic Risk Factors

article

Reply to correspondence by Abreu-Silva et al. regarding Ballana et al.: Mutation T1291C in the mitochondrial 12S rRNA gene involved in deafness in a Cuban family belongs to the macrohaplogroup L1 of African origin

article

Reply to — Age of the ΔF508 cystic fibrosis mutation

scholarly article by Xavier Estivill i Pallejà et al published November 1994 in Nature Genetics

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

artículo científico publicado en 2013

Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility.

artículo científico publicado en 2010

Response to methadone maintenance treatment is associated with the MYOCD and GRM6 genes

artículo científico publicado en 2010

Retention of the CDKN2A locus and low frequency of point mutations in primary and metastatic cutaneous malignant melanoma

artículo científico publicado en 1998

Retention of theCDKN2A locus and low frequency of point mutations in primary and metastasic cutaneous malignant melanoma

Retrovirus-mediated transfer of the herpes simplex virus thymidine kinase and connexin26 genes in pancreatic cells results in variable efficiency on the bystander killing: implications for gene therapy

artículo científico publicado en 2001

Role of UEV-1, an inactive variant of the E2 ubiquitin-conjugating enzymes, in in vitro differentiation and cell cycle behavior of HT-29-M6 intestinal mucosecretory cells.

artículo científico publicado en 1998

Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease

artículo científico publicado en 2010

SNPassoc: an R package to perform whole genome association studies

artículo científico publicado en 2007

SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report

artículo científico publicado en 2008

SSCP analysis: A blind sensitivity trial

SSCP analysis: A blind sensitivity trial

artículo científico publicado en 1997

SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII.

artículo científico publicado en 1991

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

article

Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation

artículo científico publicado en 1997

Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.

artículo científico publicado en 2012

ScrfI restriction fragment length polymorphism at the D7S23 locus (probe pKM. 19), closely linked to cystic fibrosis.

artículo científico publicado en 1990

SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells.

artículo científico publicado en 2009

Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C gene

article

Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene

article

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

artículo científico publicado en 1996

Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

artículo científico publicado en 2020

Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes

artículo científico publicado en 2017

Simultaneous on-line DNA sequencing on both strands with two fluorescent dyes

artículo científico publicado en 1995

Single-strand conformation polymorphism analysis in the FMR1 gene

artículo científico publicado en 1999

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

artículo científico publicado en 2004

Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases.

artículo científico

Smell-taste dysfunctions in extreme weight/eating conditions: analysis of hormonal and psychological interactions.

artículo científico publicado en 2015

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations

artículo científico publicado en 2001

Specific small-RNA signatures in the amygdala at premotor and motor stages of Parkinson's disease revealed by deep sequencing analysis.

artículo científico publicado en 2015

Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry

article

Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations

article

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group

artículo científico publicado en 1999

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome

artículo científico publicado en 1999

Spontaneous retroperitoneal hemorrhage during oral anticoagulant therapy

artículo científico publicado en 1985

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

artículo científico publicado en 2013

Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis.

artículo científico publicado en 2015

Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency

Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency

scientific article published on 01 January 1997

Storage conditions and stability of global DNA methylation in placental tissue

artículo científico publicado en 2013

Suicide attempts in bulimia nervosa: Personality, Psychopathological and Genetic correlates

Suicide attempts in bulimia nervosa: personality and psychopathological correlates

artículo científico publicado en 2008

Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells

article

Survey of 800+ data sets from human tissue and body fluid reveals xenomiRs are likely artifacts.

artículo científico publicado en 2017

Switching to zebrafish neurobehavioral models: The obsessive-compulsive disorder paradigm

artículo científico

TNFA -308G>A in two international population-based cohorts and risk of asthma.

artículo científico publicado en 2008

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

artículo científico publicado en 2014

Targeting CAG repeat RNAs reduces Huntington's disease phenotype independently of huntingtin levels.

artículo científico publicado en 2016

Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome.

artículo científico publicado en 2008

Testicular CFTR Splice Variants in Patients with Congenital Absence of the Vas Deferens

scientific article published on 01 October 1998

The 5-HT(2A) -1438G/A polymorphism in anorexia nervosa: a combined analysis of 316 trios from six European centres

artículo científico publicado en 2002

The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence

artículo científico publicado en 1995

The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness ⬇️

artículo científico publicado en 1999

The Circulating Transcriptome as a Source of Biomarkers for Melanoma

artículo científico publicado en 2019

The EUROGEM map of human chromosome 12

artículo científico publicado en 1994

The EUROGEM map of human chromosome 21

article

The acute effects of ultraviolet radiation on the blood transcriptome are independent of plasma 25OHD3.

artículo científico publicado en 2017

The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome

artículo científico publicado en 2021

The application of molecular genetics to the study of the basic defect causing cystic fibrosis

artículo científico publicado en 1987

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

artículo científico publicado en 2013

The cystic fibrosis locus.

artículo científico publicado en 1987

The effect of zidovudine on skeletal muscle mtDNA in HIV-1 infected patients with mild or no muscle dysfunction

artículo científico publicado en 1996

The emerging role of structural variations in common disorders: initial findings and discovery challenges

artículo científico publicado en 2008

The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis

artículo científico publicado en 1990

The human collagenase-3 (CLG3) gene is located on chromosome 11q22.3 clustered to other members of the matrix metalloproteinase gene family

artículo científico publicado en 1995

The human early-life exposome (HELIX): project rationale and design ⬇️

artículo científico publicado en 2014

The human intersectin genes and their spliced variants are differentially expressed

artículo científico publicado en 2001

The interaction between Comt and Bdnf variants influences obsessive-compulsive-related dysfunctional beliefs.

artículo científico publicado en 2013

The molecular basis of cystinuria: the role of the rBAT gene

artículo científico publicado en 1996

The molecular basis of glutamate formiminotransferase deficiency

scientific journal article

The molecular basis of glutamate formiminotransferase deficiency

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

artículo científico publicado en 2000

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

artículo científico publicado en 1994

The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: usefulness and limitations

artículo científico publicado en 1997

Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation

artículo científico publicado en 1996

Three CA/GT repeat polymorphisms from loci D21S414 and D21S1234 on human chromosome 21.

artículo científico publicado en 1994

Tools of gene transfer in organ transplantation

article

Towards a European consensus for reporting incidental findings during clinical NGS testing

artículo científico publicado en 2015

Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS)

artículo científico publicado en 2009

Transcriptome and genome sequencing uncovers functional variation in humans

artículo científico publicado en 2013

Transgenic mice overexpressing the full-length neurotrophin receptor TrkC exhibit increased catecholaminergic neuron density in specific brain areas and increased anxiety-like behavior and panic reaction

artículo científico publicado en 2006

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene

artículo científico publicado en 1994

Two dinucleotide repeat polymorphisms at 21q22.3 (D21S416 and D21S1235).

artículo científico publicado en 1993

Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation

artículo científico publicado en 1995

Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online

artículo científico publicado en 1998

Two novel mutations in exon 5 of the protein C gene in two Spanish families with thrombophilia due to protein C deficiency

article

Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E

article

Tying malaria and microRNAs: from the biology to future diagnostic perspectives

artículo científico publicado en 2016

Técnicas de Reflexión Estratégica: Search Conference Momentum

Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease.

artículo científico publicado en 1997

Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method

artículo científico publicado en 1998

Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling.

artículo científico publicado en 2008

Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion

article

Upregulation of a small vault RNA (svtRNA2-1a) is an early event in Parkinson disease and induces neuronal dysfunction.

artículo científico publicado en 2013

Use of the polymerase chain reaction technic in the genetic analysis of cystic fibrosis

artículo científico publicado en 1990

Val66Met BDNF genotypes in melancholic depression: effects on brain structure and treatment outcome.

artículo científico publicado en 2012

Validation and genotyping of multiple human polymorphic inversions mediated by inverted repeats reveals a high degree of recurrence.

artículo científico publicado en 2014

Variants in estrogen receptor alpha gene are associated with phenotypical expression of obsessive-compulsive disorder

artículo científico publicado en 2010

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

artículo científico publicado en 2003

Variation in the BDNF Val66Met polymorphism and response to cognitive-behavior therapy in obsessive-compulsive disorder.

artículo científico publicado en 2011

Vestibular and hearing loss in genetic and metabolic disorders

artículo científico publicado en 1999

WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia

artículo científico publicado en 1995

When catastrophe strikes a cell

artículo científico publicado en 2011

Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation

artículo científico publicado en 2003

Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders

artículo científico publicado en 2013

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

artículo científico publicado en 2007

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome

artículo científico publicado en 1996

[A genetic and molecular study of 85 families affected with the fragile X syndrome]

scientific article published on 01 March 1996

[Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland]

scientific article published on 01 April 2000

[Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease]

artículo científico publicado en 1998

[Detection of carriers and prenatal diagnosis of cystic fibrosis in Spanish families using DNA markers].

artículo científico publicado en 1989

[High-doses BCNU in diseases of the central nervous system caused by myeloma]

artículo científico publicado en 1985

[Mixed hypermineralocorticoidism: hepatopathy and glycyrrhizinic acid]

scientific article published on 01 September 1983

[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes]

article

[Polyarthritis and exanthema in Gardnerella vaginalis vulvovaginitis]

artículo científico publicado en 1984

[Polymorphism MI detected through the enzyme MspI in the study of congenital protein C deficiency]

artículo científico publicado en 1992

[Prenatal diagnosis of cystic fibrosis, using DNA markers, in Spanish families: experience during 1987-1989]

artículo científico publicado en 1990

[Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases]

scientific article published on 01 July 1995

[Reactive arthritis in the course of Q fever]

artículo científico publicado en 1983

[Spontaneous retroperitoneal hemorrhage and anticoagulant treatment: presentation of 4 cases and review of the literature]

scientific article published on 01 November 1984

[Spontaneous retroperitoneal hemorrhage and anticoagulation]

artículo científico publicado en 1984

[The human genome project: reality and hope]

artículo científico publicado en 1993

[The molecular pathology of RET protooncogene in families with multiple endocrine neoplasia type 2A]

artículo científico publicado en 1996

[Thymoma and pure red-cell aplasia. Immunologic study of 3 cases]

artículo científico publicado en 1985

[Thymoma associated with erythroblastopenia and hypogammaglobulinemia with an increase in the T8+ lymphocyte subpopulation]

artículo científico publicado en 1984

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics

artículo científico publicado en 2019

ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE

artículo científico publicado en 1989

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