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Lista de obras de Carmen Ayuso

2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implications

artículo científico publicado en 2017

67Ga scintigraphy for the evaluation of recurrences and residual masses in patients with lymphoma

scientific article published on 01 May 1997

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

artículo científico publicado en 2016

A Recurrent Nonsense Mutation Occurring as a de novo Event in a Patient with Recessive Dystrophic Epidermolysis Bullosa

artículo científico publicado en 2011

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

artículo científico publicado en 2014

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa

artículo científico publicado en 2011

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21

artículo científico publicado en 1997

A phase II open label trial evaluating safety and efficacy of a telomerase peptide vaccination in patients with advanced hepatocellular carcinoma

artículo científico publicado en 2010

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.

artículo científico publicado en 2010

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

scientific journal article

ATA homozigosity in the IL-10gene promoter is a risk factor for schizophrenia in Spanish females: a case control study ⬇️

artículo científico publicado el 9 de junio de 2011

Abdominal computed tomography predicts progression in patients with Rai stage 0 chronic lymphocytic leukemia

artículo científico publicado en 2007

An Update on the Genetics of Usher Syndrome ⬇️

artículo científico publicado el 23 de diciembre de 2010

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

scientific article published on 27 January 2022

An excess of chromosome 1 breakpoints in male infertility

article

Analysis of the ABCA4 genomic locus in Stargardt disease

artículo científico publicado en 2014

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement

artículo científico publicado en 2017

Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies

artículo científico publicado en 2008

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

artículo científico publicado en 2015

Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience.

artículo científico publicado en 2005

Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages

artículo científico publicado en 2005

Arterial embolisation or chemoembolisation versus symptomatic treatment in patients with unresectable hepatocellular carcinoma: a randomised controlled trial

artículo científico publicado en 2002

Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population ⬇️

artículo científico publicado el 3 de enero de 2012

Attention deficit hyperactivity disorder: genetic association study in a cohort of Spanish children

artículo científico publicado en 2016

Autosomal dominant Retinitis Pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus

article

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

artículo científico publicado en 2012

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration

artículo científico publicado en 2013

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

artículo científico publicado en 2012

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

artículo científico publicado en 2002

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.

artículo científico publicado en 2008

CYP2D6 poor metabolizer status might be associated with better response to risperidone treatment

artículo científico publicado en 2013

Calcifications in the portal venous system: comparison of plain films, sonography, and CT

scientific article published on 01 August 1992

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

artículo científico publicado en 2013

Changes in portal vein flow after adult living-donor liver transplantation: Does it influence postoperative liver function?

artículo científico publicado en 2003

Characterization of a 6p21 translocation breakpoint in a family with idiopathic generalized epilepsy

artículo científico publicado en 2003

Chemoembolization of hepatocellular carcinoma with drug eluting beads: efficacy and doxorubicin pharmacokinetics

artículo científico publicado en 2006

Cholangiocarcinoma in cirrhosis: absence of contrast washout in delayed phases by magnetic resonance imaging avoids misdiagnosis of hepatocellular carcinoma.

artículo científico publicado en 2009

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

artículo científico publicado en 2005

Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients

artículo científico publicado en 2015

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

artículo científico publicado en 2006

Colon cancer modulation by a diabetic environment: A single institutional experience

artículo científico publicado en 2017

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.

artículo científico publicado en 2018

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

artículo científico publicado en 2012

Comparison of Endoscopic Ultrasonography and Magnetic Resonance Cholangiopancreatography in the Diagnosis of Pancreatobiliary Diseases: A Prospective Study

artículo científico publicado en 2007

Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.

artículo científico

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations

artículo científico publicado en 2008

Contribution of JAK2 mutations to T-cell lymphoblastic lymphoma development.

artículo científico publicado en 2015

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

artículo científico publicado en 2014

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

artículo científico publicado en 2016

Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis

artículo científico publicado en 2009

Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.

artículo científico publicado en 2016

Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation

artículo científico publicado en 2014

Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib

article

Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.

artículo científico publicado en 2006

Diagnosis and treatment of hepatocellular carcinoma

artículo científico publicado en 2009

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

artículo científico publicado en 2010

Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.

artículo científico publicado en 2016

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases

artículo científico publicado en 2016

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach

artículo científico publicado en 2005

Dual-energy CT: oncologic applications

artículo científico publicado en 2012

Early dermatologic adverse events predict better outcome in HCC patients treated with sorafenib

artículo científico publicado en 2014

Effect of polymorphisms on the pharmacokinetics, pharmacodynamics, and safety of risperidone in healthy volunteers

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg

artículo científico publicado en 2017

Evaluating a newly developed pharmacogenetic array: screening in a Spanish population.

artículo científico publicado en 2010

Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.

artículo científico publicado en 2001

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

article

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration

artículo científico publicado en 2014

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis

artículo científico publicado en 2013

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

artículo científico publicado en 2014

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

artículo científico publicado en 2015

Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

artículo científico publicado en 2008

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

artículo científico publicado en 2009

Frequency of constitutional chromosome alterations in patients with hematologic neoplasias

artículo científico publicado en 1987

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

artículo científico publicado en 2016

Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.

artículo científico publicado en 2011

Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510

artículo científico publicado en 2006

Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene.

artículo científico publicado en 2015

Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.

artículo científico publicado en 2016

Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene

artículo científico publicado en 2018

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

artículo científico publicado en 2000

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies

artículo científico publicado en 1999

Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.

artículo científico publicado en 1999

Growing teratoma syndrome in metastatic germinal non-seminomatous testicular tumors

scientific article published on 01 May 1990

Guidelines for genetic study of aniridia.

artículo científico

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population ⬇️

artículo científico publicado el 5 de febrero de 2013

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

artículo científico publicado en 2011

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

artículo científico publicado en 2009

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

artículo científico publicado en 1995

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa

artículo científico publicado en 2015

Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.

artículo científico publicado en 2003

Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability

scientific journal article

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

artículo científico publicado en 2006

Identification of PITX3 mutations in individuals with various ocular developmental defects

artículo científico publicado en 2018

Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.

artículo científico publicado en 2010

Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa

scientific article published on 01 September 1994

Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.

artículo científico publicado en 2010

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

artículo científico publicado en 2001

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4

artículo científico publicado en 2019

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

artículo científico publicado en 2016

Identification of three novel mutations in the MYO7A gene.

artículo científico publicado en 1999

Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva

article

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

artículo científico publicado en 2015

Imaging of HCC.

artículo científico

Imaging techniques in hepatocellular carcinoma: diagnosis, extension and evaluation of therapeutic response

artículo científico publicado en 2010

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

artículo científico publicado en 2017

Increased risk of tumor seeding after percutaneous radiofrequency ablation for single hepatocellular carcinoma.

artículo científico publicado en 2001

Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

artículo científico publicado en 2013

Initial response to percutaneous ablation predicts survival in patients with hepatocellular carcinoma.

artículo científico publicado en 2004

Interleukin-8 expression in bronchoalveolar lavage cells in the evaluation of alveolitis in idiopathic pulmonary fibrosis.

artículo científico publicado en 1998

Intestinal tuberculosis in AIDS

article

Intrahepatic peripheral cholangiocarcinoma in cirrhosis patients may display a vascular pattern similar to hepatocellular carcinoma on contrast-enhanced ultrasound

scientific article published on 01 June 2010

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population

artículo científico publicado en 2013

Is microbubble-enhanced ultrasonography sufficient for assessment of response to percutaneous treatment in patients with early hepatocellular carcinoma?

artículo científico publicado en 2006

Is there a role for (99m)Tc-anti-CEA monoclonal antibody imaging in the diagnosis of recurrent colorectal carcinoma?

artículo científico publicado en 2003

Lack of arterial hypervascularity at contrast-enhanced ultrasound should not define the priority for diagnostic work-up of nodules <2 cm.

artículo científico publicado en 2014

Late Onset Retinitis Pigmentosa

scientific article published on 01 December 2011

Linkage analysis in Usher syndrome type I (USH1) families from Spain ⬇️

artículo científico publicado el 1 de mayo de 1998

Lipomatosis of the pancreas: an unusual cause of massive steatorrhea

scientific article published on 01 January 1988

Liver tumor characterization: comparison between liver-specific gadoxetic acid disodium-enhanced MRI and biphasic CT--a multicenter trial

artículo científico publicado en 2006

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

article

MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages

artículo científico publicado en 2007

MRI of Crohn's disease: from imaging to pathology.

artículo científico publicado en 2012

Management and return of incidental genomic findings in clinical trials

artículo científico publicado en 2014

Managing incidental genomic findings in clinical trials: fulfillment of the principle of justice

artículo científico publicado en 2014

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

artículo científico publicado en 2009

Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti

artículo científico publicado en 2009

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

artículo científico publicado en 2008

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

artículo científico publicado en 2009

Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain

artículo científico publicado en 2014

Movement disorders in hereditary ataxias

artículo científico publicado en 2002

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

artículo científico publicado en 1999

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

artículo científico publicado en 1998

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray

artículo científico publicado en 2007

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2010

Mutational Screening of theRP2andRPGRGenes in Spanish Families with X-Linked Retinitis Pigmentosa

article

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

artículo científico publicado en 2011

Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

artículo científico publicado en 2017

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

artículo científico publicado en 2002

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

artículo científico publicado en 2017

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa

artículo científico publicado en 2003

Mutations including the promoter region of myocilin/TIGR gene

article

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report.

artículo científico publicado en 2017

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

artículo científico publicado en 2018

New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

artículo científico publicado en 2005

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy

artículo científico publicado en 2015

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.

artículo científico publicado en 2008

New type of mutations in three spanish families with choroideremia.

artículo científico publicado en 2008

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

artículo científico publicado en 2010

Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz

artículo científico publicado en 2016

Non-invasive diagnosis of hepatocellular carcinoma ⩽2cm in cirrhosis. Diagnostic accuracy assessing fat, capsule and signal intensity at dynamic MRI

artículo científico publicado en 2012

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

artículo científico publicado en 2013

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

artículo científico publicado en 2008

Novel human pathological mutations

artículo científico publicado en 2006

Novel mutations in the TIGR gene in early and late onset open angle glaucoma

article

Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa

artículo científico publicado en 2011

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

artículo científico publicado en 1996

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

artículo científico publicado en 2005

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

artículo científico publicado en 2008

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

artículo científico publicado en 2004

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families

artículo científico publicado en 2013

Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations inBBS1,BBS10andBBS12genes

article

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

artículo científico publicado en 2010

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

artículo científico publicado en 2016

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

artículo científico publicado en 2020

Pharmacodynamic genetic variants related to antipsychotic adverse reactions in healthy volunteers

artículo científico publicado en 2013

Pharmacogenetic studies assessment in clinical research: Four issues, four opinions

artículo científico publicado en 2010

Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects.

artículo científico publicado en 2017

Phase I trial of gefitinib with concurrent radiotherapy and fixed 2-h gemcitabine infusion, in locally advanced pancreatic cancer

scientific article published on 11 September 2006

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

artículo científico publicado en 2012

Postprogression survival of patients with advanced hepatocellular carcinoma: rationale for second-line trial design

artículo científico publicado en 2013

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

scientific article published on 01 October 2002

Prenatal diagnosis of 46, XX male fetus

artículo científico publicado en 2006

Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study

artículo científico publicado en 2008

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.

artículo científico publicado en 2009

Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy

artículo científico publicado en 2015

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families

artículo científico publicado en 2014

Prospective evaluation of gadoxetic acid magnetic resonance for the diagnosis of hepatocellular carcinoma in newly detected nodules ≤2 cm in cirrhosis

scientific article published on 28 May 2019

Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview.

artículo científico publicado en 2004

Recessive dystrophic epidermolysis bullosa: the origin of the c.6527insC mutation in the Spanish population

article

Reply to Townsend et al.

artículo científico publicado en 2013

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

artículo científico publicado en 2005

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

artículo científico publicado en 2010

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

scientific journal article

Role of 3.0-T MR colonography in the evaluation of inflammatory bowel disease.

artículo científico publicado en 2009

SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations

artículo científico publicado en 2022

Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome

artículo científico publicado en 2007

Second-generation dual-energy computed tomography of the abdomen: radiation dose comparison with 64- and 128-row single-energy acquisition

artículo científico publicado en 2013

Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family

artículo científico publicado en 2000

Somatic stability in chorionic villi samples and other Huntington fetal tissues

artículo científico publicado en 1995

Sonographic, Cytogenetic and DNA Analysis in Four 69,XXX Fetuses Diagnosed in the Second Trimester

artículo científico publicado en 2000

Successful First Trimester Diagnosis in a Pregnancy at Risk for Propionic Acidaemia

scientific article published on 01 January 1989

Sudden death in hypertrophic cardiomyopathy associated with 46,XY pure gonadal dysgenesis

article

Survival of patients with hepatocellular carcinoma treated by transarterial chemoembolisation (TACE) using Drug Eluting Beads. Implications for clinical practice and trial design.

artículo científico publicado en 2012

Systemic therapy for hepatocellular carcinoma: the issue of treatment stage migration and registration of progression using the BCLC-refined RECIST.

artículo científico publicado en 2014

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

artículo científico publicado en 2012

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

artículo científico publicado en 2015

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

artículo científico publicado en 2014

The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.

artículo científico publicado en 2010

The genetic basis of the Pierre Robin Sequence

artículo científico publicado en 2006

The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.

artículo científico publicado en 2009

Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).

artículo científico publicado en 2008

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population

artículo científico publicado en 2006

Transarterial embolization for hepatocellular carcinoma. Antibiotic prophylaxis and clinical meaning of postembolization fever.

artículo científico publicado en 1995

Treatment of hepatocellular carcinoma with tamoxifen: A double-blind placebo-controlled trial in 120 patients

artículo científico publicado en 1995

Treatment of small hepatocellular carcinoma in cirrhotic patients: a cohort study comparing surgical resection and percutaneous ethanol injection

scientific article published on 01 November 1993

Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH.

artículo científico publicado en 2005

Two non-contiguous duplications in the DMD gene in a Spanish family.

artículo científico publicado en 2008

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

artículo científico publicado en 2011

USH2A Gene Editing Using the CRISPR System

artículo científico publicado en 2017

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

artículo científico publicado en 2018

Virtual unenhanced images of the abdomen with second-generation dual-source dual-energy computed tomography: image quality and liver lesion detection

artículo científico publicado en 2013

Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development

artículo científico publicado en 2017

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

artículo científico publicado en 2015

[Hepatocellular carcinoma: diagnosis, staging, and treatment strategy]

artículo científico publicado en 2010

[Holt-Oram syndrome: study of 7 cases]

artículo científico publicado en 2010

[Imaging diagnosis of hepatocellular carcinoma. Addendum to hepatocellular carcinoma: diagnosis, staging and treatment strategies]

artículo científico publicado en 2011

[Lower esophageal sphincter pressure in patients with achalasia. Is high blood pressure frequent in these patients?]

artículo científico publicado en 2003

[Magnetic resonance enterography in Crohn's disease: a new diagnostic tool?]

scientific article published on 01 April 2008

[Recommendations of the Spanish Biliopancreatic Club for the Treatment of Acute Pancreatitis. Consensus development conference]

artículo científico publicado en 2008

[Usefulness of ultrasonography and computerized tomography in predicting resectability of pancreatic carcinoma]

artículo científico publicado en 1998

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