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Lista de obras de Bruno Dallapiccola

16p subtelomeric duplication: a clinically recognizable syndrome.

artículo científico publicado en 2009

22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system

artículo científico publicado en 2006

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

scientific article published on 01 May 1995

2q31.2q32.3 deletion syndrome: report of an adult patient

artículo científico publicado en 2009

3? creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations

article

3p25.3 microdeletion of GABA transportersSLC6A1andSLC6A11results in intellectual disability, epilepsy and stereotypic behavior

artículo científico publicado en 2014

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.

artículo científico publicado en 2009

A 4-polymorphism risk score predicts steatohepatitis in children with nonalcoholic fatty liver disease

artículo científico publicado en 2014

A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1.

artículo científico publicado en 1990

A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors

artículo científico publicado en 2009

A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy

article

A Single Polymerase Chain Reaction-Based Protocol for Detecting Normal and Expanded Alleles in Myotonic Dystrophy

artículo científico publicado en 1998

A Single Strand Conformation Polymorphism-Based Carrier Test for Spinal Muscular Atrophy

artículo científico publicado en 2001

A combined analytical approach reveals novelEXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients

article

A comment on the paper: Recurrence of down syndrome associated with microchromosome by C. Ramos, L. Rivera, J. Benitez, E. Tejedor, and A. Sanchez-Cascos

article

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

artículo científico publicado en 2015

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

scientific article published on 01 September 1999

A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities.

artículo científico publicado en 2007

A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12–q12.1

article

A genetic assessment of trisomy 21 in a patient with persistent truncus arteriosus who died 38 years ago

scientific article published on 01 January 1997

A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region

artículo científico publicado en 1998

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

artículo científico publicado en 2004

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

artículo científico publicado en 2004

A nationwide genetic testing survey in Italy, year 2007.

artículo científico publicado en 2010

A new method for direct analysis of polymerase chain reaction-amplified human papillomavirus using DNA enzyme immunoassay

artículo científico publicado en 1994

A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

artículo científico publicado en 2004

A novel family with an unusual early-onset generalized dystonia

artículo científico publicado en 2005

A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy

artículo científico publicado en 2010

A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies

artículo científico publicado en 2005

A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.

artículo científico publicado en 2007

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient

artículo científico publicado en 2002

A possible role of NAIP gene deletions in sex-related spinal muscular atrophy phenotype variation

article

A restricted spectrum of NRAS mutations causes Noonan syndrome

artículo científico publicado en 2010

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

artículo científico publicado en 2012

A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis

article

A single-nucleotide polymorphism in the human bone morphogenetic protein-4 ( BMP 4 ) gene

article

A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients

A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma

scientific article published on 01 June 2007

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot

artículo científico publicado en 2012

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

artículo científico publicado en 2006

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

scientific journal article

AUSTRALIA ANTIGEN AND DOWN'S SYNDROME

scientific article published in The Lancet

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders

Abnormal neuronal migration defect in the severe variant subtype of Adams–Oliver syndrome

Absence of chromosome heterogeneity between classical Fanconi's anemia and the Estren-Dameshek type

Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women

artículo científico publicado en 2000

Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: A specific cardiac phenotype associated with deletion 18q syndrome

article published in 2005

Acro-cardio-facial syndrome

artículo científico publicado en 2010

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

artículo científico publicado en 2015

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

artículo científico publicado en 2014

Acute lymphocytic and myelomonocytic leukemia associated with low platelet counts and a 21q- marker chromosome

artículo científico publicado en 1981

Additional evidence thatPTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect

article

Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain.

artículo científico publicado en 2006

Administration of autologous erythrocytes loaded with dexamethasone 21-phosphate is effective in steroid-dependent IBD

Advances in the search for psoriasis susceptibility genes.

artículo científico publicado en 2000

Aicardi syndrome in a male infant

scientific article published on 01 February 1980

Alkaline Phosphatase Expression in Human Chorionic Villi

An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.

artículo científico publicado en 2002

An excess of chromosome 1 breakpoints in male infertility

article

Analysis of CARD15 Gene Variants in Italian Pediatric Patients with Inflammatory Bowel Diseases

article

Analysis of a polymerase chain reaction-amplified product of the DXS 164 locus in the dystrophin gene

article

Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies

artículo científico publicado en 2003

Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility

artículo científico publicado en 2004

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome

artículo científico publicado en 1995

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

artículo científico publicado en 2003

Anatomic patterns of conotruncal defects associated with deletion 22q11

scientific article published on 01 January 2001

Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS)

artículo científico publicado en 2006

Apolipoprotein E genotypes in hospitalized elderly patients with vascular dementia.

artículo científico publicado en 2007

Apolipoprotein E genotypes in mild cognitive impairment subtypes.

artículo científico publicado en 2006

Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia

Application of MLPA assay to characterize unsolved α-globin gene rearrangements.

artículo científico publicado en 2010

Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.

artículo científico publicado en 2008

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.

artículo científico publicado en 2007

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

artículo científico publicado en 2002

Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene

artículo científico publicado en 1997

Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization.

artículo científico publicado en 1996

Assignment of the slow troponin T (TNNT1) gene to chromosome 19 using polymerase chain reaction

article

Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot.

artículo científico publicado en 1996

Association analysis of GRIN2B, encoding N-methyl-D-aspartate receptor 2B subunit, and Alzheimer's disease

artículo científico publicado en 2008

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother

artículo científico publicado en 2012

Association of apolipoprotein E and angiotensin converting enzyme gene polymorphisms with the multidimensional impairment in older patients.

artículo científico publicado en 2009

Association of deletion 22 and trisomy 21: A likely random association in patients with conotruncal heart defects

article published in 2005

Association of dopamine D4 receptor (DRD4) exon III repeat polymorphism with temperament in 3-year-old infants

artículo científico publicado en 2003

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

article

Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia

artículo científico publicado en 2003

Association study of a promoter polymorphism of UFD1L gene with schizophrenia

artículo científico publicado en 2001

Atrioventricular Canal Defect as a Sign of Laterality Defect in Ellis-van Creveld and Polydactyly Syndromes With Ciliary and Hedgehog Signaling Dysfunction

article published in 2012

Atrioventricular Canal Defect: Anatomical and Genetic Characteristics

Atrioventricular Canal Without Down Syndrome Associated With Additional Cardiac and Noncardiac Anomalies

artículo científico publicado en 1990

Atrioventricular canal associated with trisomy 9

artículo científico publicado en 1989

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog

artículo científico publicado en 2018

Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes

Atrioventricular canal defect in Bardet-Biedl syndrome: Clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536

artículo científico publicado en 2006

Atrioventricular canal defect in patients with RASopathies

artículo científico publicado en 2012

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

artículo científico publicado en 1999

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia

artículo científico publicado en 2006

Authors' response to J Thomas: "If not parthenogenesis why not 'in vivo embryogenesis' with Mary as a birth mother".

artículo científico publicado en 2014

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family

artículo científico

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams-Oliver syndrome

article by M.C. Digilio et al published 1 November 2008 in American Journal of Medical Genetics

Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba

article

Azoospermia in a man with a constitutional ring 22 chromosome

artículo científico publicado en 2010

BONE ABNORMALITIES AND XYY SYNDROME

artículo científico publicado en 1970

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

artículo científico publicado en 2015

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

Behavioral phenotype in Costello syndrome with atypical mutation: a case report

artículo científico publicado en 2014

Benchmarks for cystic fibrosis carrier screening: a European consensus document

artículo científico publicado en 2010

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

scientific journal article

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

artículo científico publicado en 2017

Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene

article

CARD15 genotyping in inflammatory bowel disease patients by multiplex pyrosequencing.

artículo científico publicado en 2003

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

artículo científico publicado en 2007

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

artículo científico publicado en 2015

CHROMOSOMES, LEUKÆMIA, AND OCCUPATIONAL EXPOSURE TO LEUKÆMOGENIC AGENTS

artículo científico publicado en 1979

COMT Val158Met polymorphism predicts negative symptoms response to treatment with olanzapine in schizophrenia

article

CRELD1 andGATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

article

CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia

article

CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia

artículo científico publicado en 1999

Can modern biology interpret the mystery of the birth of Christ?

artículo científico publicado en 2014

Cardiovascular malformations in Adams-Oliver syndrome

Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype

Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene.

artículo científico publicado en 1999

Centric fission of chromosome No. 4 in the mother of two patients with trisomy 4p

artículo científico publicado en 1976

Changes in CpG islands promoter methylation patterns during ductal breast carcinoma progression

artículo científico publicado en 2009

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

artículo científico publicado en 1994

Chromosome 22q11 microdeletion and isolated conotruncal heart defects

artículo científico publicado en 1997

Chromosome pattern, occupation, and clinical features in patients with acute nonlymphocytic leukemia.

artículo científico publicado en 1981

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

artículo científico publicado en 2004

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

article

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

artículo científico publicado en 2007

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome)

artículo científico publicado en 2005

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

artículo científico publicado en 2006

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

artículo científico publicado en 2017

Clinical utility gene card for: Joubert syndrome

artículo científico

Clinical utility gene card for: Joubert syndrome--update 2013.

artículo científico publicado en 2013

Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome

artículo científico publicado en 2011

Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)

artículo científico publicado en 2001

Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster

artículo científico publicado en 2001

Combinatorial Sequencing-by-Hybridization: Analysis of the NF1 Gene

article

Combined Test for UGT1A1 –3279T→G and A(TA)nTAA Polymorphisms Best Predicts Gilbert's Syndrome in Italian Pediatric Patients

article

Comment on the paper of Qumsiyeh et al. (Am J Med Genet 41: 99-101, 1991)

article

Common fragile sites: Their prevalence in subjects with constitutional and acquired chromosomal instability

artículo científico publicado en 1987

Common variants at five new loci associated with early-onset inflammatory bowel disease

artículo científico publicado en 2009

Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.

artículo científico publicado en 1996

Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes

article

Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome

artículo científico publicado en 1976

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son.

artículo científico publicado en 2006

Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome

artículo científico publicado en 2009

Confirmation of regional assignment of nucleoside phosphorylase to band 14q13 by gene-dosage studies

article

Confirmation of the mandibulofacial dysostosis, toriello type

Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype

artículo científico publicado en 1994

Congenital heart defect in sibs with discordant karyotypes

scientific article published on 01 November 1998

Congenital heart defects in Kabuki syndrome.

artículo científico publicado en 2001

Congenital heart defects in genetics syndromes.

artículo científico publicado en 2015

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).

artículo científico publicado en 2008

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

artículo científico

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

artículo científico publicado en 1999

Congenital intrahepatic portosystemic venous shunt: An unusual feature in LEOPARD syndrome and in neurofibromatosis type 1

Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?

artículo científico publicado en 2014

Conotruncal heart defects and chromosome 22q11 microdeletion

artículo científico publicado en 1997

Contribution of IBD5 Locus to Clinical Features of IBD Patients

artículo científico publicado en 2006

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

artículo científico publicado en 2015

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis

artículo científico publicado en 2010

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

artículo científico publicado en 2003

Costello syndrome: clinical diagnosis in the first year of life

article by M. Cristina Digilio et al published 29 August 2007 in European Journal of Pediatrics

Cutis laxa in Kabuki make-up syndrome.

artículo científico publicado en 2005

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

artículo científico publicado en 1994

Cytogenetic Studies in Acute Leukaemias. Prognostic Implications of Chromosome Imbalances ⬇️

artículo científico publicado el 1 de enero de 1977

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study

article

Cytogenetic findings in acute promyelocytic leukaemia. A report of 25 cases

scientific article published on 01 August 1984

Cytogenetics of Mendelian mutations associated with cancer proneness

artículo científico publicado en 1987

DERMATOGLYPHICS IN LARSEN'S SYNDROME

artículo científico publicado en 1973

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations

artículo científico publicado en 2006

DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies

scientific article published on 01 April 1996

DOWN SYNDROME AND THYROID FUNCTION

artículo científico publicado en 1976

DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes.

artículo científico publicado en 2010

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

artículo científico publicado en 2013

De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy

artículo científico publicado en 1995

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

article

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

artículo científico publicado en 2009

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

artículo científico publicado en 2012

Deficiency of the infundibular septum in patients with interrupted aortic arch and del 22q11

scientific article published on 01 October 2000

Delayed diagnosis of dyskeratosis congenita in a 40-year-old woman with multiple head and neck squamous cell carcinomas

artículo científico publicado en 2007

Deletion 22q11 and isolated congenital heart disease

Deletion 22q11 in patients with interrupted aortic arch

artículo científico publicado en 1999

Deletion 2p15-16.1 syndrome: Case report and review

article

Deletion 2q31.3----2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase

artículo científico publicado en 1988

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

article

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

article published in 1996

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

artículo científico publicado en 1996

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

artículo científico publicado en 2012

Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)

artículo científico publicado en 1977

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

artículo científico publicado en 2007

Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.

artículo científico publicado en 1990

Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias

artículo científico publicado en 2004

Dermatoglyphics and chromosomes in cat-eye syndrome.

artículo científico publicado en 1971

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

artículo científico publicado en 2003

Design of novel three-phase PCL/TZ–HA biomaterials for use in bone regeneration applications

artículo científico publicado en 2010

Detection of a Rare β-Globin Nonsense Mutation [Codon 59 (AAG→TAG)] in an Italian Family

article

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene

artículo científico publicado en 1998

Detection of eight β-thalassemia mutations using a DNA enzyme immunoassay

artículo científico publicado en 1996

Development and validation of a multidimensional prognostic index for one-year mortality from comprehensive geriatric assessment in hospitalized older patients

artículo científico publicado en 2008

Di George anomaly with atrioventricular canal

scientific article published on 01 January 1991

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

article

Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears

article

Diagnosis of DiGeorge syndrome in nuclei released from archival autoptic heart specimens using fluorescence in situ hybridization

artículo científico

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

artículo científico publicado en 2014

Different expression of the myotonin protein kinase gene in discrete areas of human brain.

artículo científico publicado en 1995

Diffuse coronary dilation in a young patient with LEOPARD syndrome

artículo científico publicado en 2006

Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats

artículo científico publicado en 1995

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

artículo científico publicado en 1996

Discrete membranous subaortic stenosis in siblings

artículo científico publicado en 1993

Discrete subaortic stenosis

artículo científico publicado en 1994

Disomy of distal Xq in males: case report and overview.

artículo científico publicado en 2004

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

artículo científico publicado en 2005

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinal study in 1- to 5-month-old neonates

artículo científico publicado en 2001

Duplication 18q21.31-q22.2.

artículo científico publicado en 2007

Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation

artículo científico publicado en 2009

Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients.

artículo científico publicado en 2015

Early-life gut microbiota under physiological and pathological conditions: the central role of combined meta-omics-based approaches.

artículo científico publicado en 2012

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

artículo científico publicado en 2011

Effect of a CYP2D6 polymorphism on the efficacy of donepezil in patients with Alzheimer disease

artículo científico publicado en 2009

Effect of oxidants and antioxidants on chromosomal breakage in Fanconi anemia lymphocytes

scientific article published on 01 January 1985

Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism

artículo científico publicado en 2003

Epistasis between dopamine regulating genes identifies a nonlinear response of the human hippocampus during memory tasks

artículo científico publicado en 2008

Erratum: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

scholarly article published in Nature Genetics

Erythrocyte-mediated delivery of dexamethasone in patients with mild-to-moderate ulcerative colitis, refractory to mesalamine: a randomized, controlled study.

artículo científico publicado en 2008

Erythrocytes-Mediated Delivery of Dexamethasone in Steroid-Dependent IBD Patients-A Pilot Uncontrolled Study

artículo científico publicado en 2005

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

artículo científico publicado en 2012

Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma

artículo científico publicado en 2004

Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients.

artículo científico publicado en 2000

Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21 and 1q21.

artículo científico publicado en 1999

Evidence for localisation of genes for human alpha-globin on the long arm of chromosome 4.

artículo científico publicado en 1977

Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man.

artículo científico publicado en 2009

Exclusion of linkage with chromosome 21 in families with recurrence of non-Down's atrioventricular canal

artículo científico publicado en 1994

Exclusion of the elastin gene in the pathogenesis of Costello syndrome

article

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

artículo científico publicado en 2013

Expanding CEP290 mutational spectrum in ciliopathies

artículo científico publicado en 2009

Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review

artículo científico publicado en 2017

Expanding the phenotype of duplication of the Rubinsteinâ Taybi region on 16p13.3

artículo científico publicado en 2009

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

artículo científico publicado en 2017

Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome.

artículo científico publicado en 1999

Expression of DeltaF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR.

artículo científico publicado en 2001

Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band

scientific article published on 01 January 1981

Expression of receptors for native and chemically modified low-density lipoproteins in brain microvessels

artículo científico publicado en 1997

Expression study of survival motor neuron gene in human fetal tissues.

artículo científico publicado en 1997

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas

article

Extrachromosomal genes: a powerful tool in gene targeting approaches

artículo científico publicado en 2002

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

artículo científico publicado en 2011

FOXP1-related intellectual disability syndrome: a recognisable entity

artículo científico publicado en 2017

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle

scientific article published on 01 February 1993

Failure of diepoxybutane to enhance sister chromatid exchange levels in Fanconi's anemia patients and heterozygotes

artículo científico publicado en 1983

Familial Recurrence Risks of Congenital Heart Defects

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations

artículo científico publicado en 2004

Familial aplasia cutis congenita and coarctation of the aorta

Familial atrioventricular septal defect: possible genetic mechanism

artículo científico publicado en 1994

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

artículo científico publicado en 2003

Familial mandibuloacral dysplasia: Report of an additional Italian patient

article

Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804.

artículo científico publicado en 2002

Familial recurrence of congenital heart disease: an overview and review of the literature.

artículo científico publicado en 2006

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries

artículo científico publicado en 2005

Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2

article by M. Cristina Digilio et al published 2005 in American Journal of Medical Genetics

Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal

artículo científico publicado en 2000

Familial recurrence of transposition of the great arteries

scientific article published on 01 May 1998

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

article

Familial transposition of the great arteries caused by multiple mutations in laterality genes

article

Fetal cells in maternal blood: a six-fold increase in women who have undergone amniocentesis and carry a fetus with Down syndrome: a multicenter study.

artículo científico publicado en 2004

Fetal translocation between chromosomes 2, 18, and 21 resolved by fish

artículo científico publicado en 1995

Fine Mapping of the PSORS4 Psoriasis Susceptibility Region on Chromosome 1q21

artículo científico publicado en 2001

Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3

First case of nonalcoholic steatohepatitis in a child with del(1p36) and dup (Xp22): review of the literature.

artículo científico publicado en 2017

First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency

scientific article published on 01 March 1986

First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight cases

artículo científico publicado en 1989

First-trimester prenatal diagnosis of homozygous (14;21) translocation in a fetus with 44 chromosomes

artículo científico publicado en 1989

First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers

artículo científico publicado en 1994

Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype–phenotype correlation

artículo científico publicado en 2006

Foodomics as part of the host-microbiota-exposome interplay

artículo científico publicado en 2016

Founder Effects forATMGene Mutations in Italian Ataxia Telangiectasia Families

article

Fragile sites and chromosome instability: the distribution of breaks induced by cis-diamine-clichloro-platinum (II) in Fanconi anemia lymphocyte cultures

article

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

article

From genetic research into clinical practice

scientific article published on 01 January 1997

Functional analysis of splicing mutations in exon 7 of NF1 gene

artículo científico publicado en 2007

Functional characterization of the 5' flanking region of human ubiquitin fusion degradation 1 like gene (UFD1L).

artículo científico publicado en 2002

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

artículo científico publicado en 2008

GIGYF2 variants are not associated with Parkinson's disease in Italy

article

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

artículo científico publicado en 2007

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

artículo científico publicado en 2006

Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts.

artículo científico publicado en 2007

Gene transfection efficiency of tracheal epithelial cells by DC-chol-DOPE/DNA complexes.

artículo científico publicado en 1999

Genetic Insight Into the Pathogenesis of Nonalcoholic Fatty Liver Disease

artículo científico publicado en 2014

Genetic Susceptibility to Nonsteroidal Anti-Inflammatory Drug–Related Gastroduodenal Bleeding: Role of Cytochrome P450 2C9 Polymorphisms

artículo científico publicado en 2007

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

artículo científico publicado en 1990

Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.

artículo científico publicado en 2011

Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium

artículo científico publicado en 1999

Genetic testing for paediatric neurological disorders

artículo científico publicado en 2008

Genetic testing in Italy, year 2004

article

Genetically determined interaction between the dopamine transporter and the D2 receptor on prefronto-striatal activity and volume in humans.

artículo científico publicado en 2009

Genetics

article

Genetics of Ebstein Anomaly

article

Genetics of aneuoploidy in man reconsidered by banding studies

artículo científico publicado el 1 de julio de 1978

Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications

artículo científico publicado en 2007

Genetics of pediatric obesity

artículo científico

Genome medicine: gene therapy for the millennium, 30 September-3 October 2001, Rome, Italy

artículo científico publicado en 2002

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.

artículo científico publicado en 2009

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

artículo científico publicado en 2017

Genomic instability and increased expression of BUB1B and MAD2L1 genes in ductal breast carcinoma

article

Genomic instability associated with myotonic dystrophy does not involve p53 expression and activity

scientific article published in 1998

Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility

artículo científico publicado en 1999

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

artículo científico publicado en 2011

Genotypes and phenotypes of Joubert syndrome and related disorders

artículo científico publicado en 2007

Genotype–phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome

article

Genotyping of spinal muscular atrophy families with linked DNA probes

artículo científico publicado en 1992

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

artículo científico publicado en 2009

Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours

artículo científico publicado en 2009

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

artículo científico publicado en 2006

Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion

scientific article published on 01 June 2010

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

artículo científico publicado en 2008

Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview

artículo científico publicado en 2009

Glutamine to arginine substitution at amino acid 84 of mammalian tribbles homolog TRIB3 and CKD in whites with type 2 diabetes

artículo científico publicado en 2007

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

artículo científico publicado en 2002

Guidelines for 22q11 deletion screening of patients with conotruncal defects

artículo científico publicado en 1999

Guidelines for the appropriate use of genetic tests in infertile couples.

artículo científico publicado en 2002

Gut Microbiota Dysbiosis as Risk and Premorbid Factors of IBD and IBS Along the Childhood-Adulthood Transition

artículo científico publicado en 2015

Gut Microbiota Markers in Obese Adolescent and Adult Patients: Age-Dependent Differential Patterns.

artículo científico publicado en 2018

Gut Microbiota Profiling and Gut-Brain Crosstalk in Children Affected by Pediatric Acute-Onset Neuropsychiatric Syndrome and Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections.

artículo científico publicado en 2018

Gut microbiota profiling of pediatric nonalcoholic fatty liver disease and obese patients unveiled by an integrated meta-omics-based approach

artículo científico publicado en 2016

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

artículo científico publicado en 2009

Hand dermatoglyphics in trisomy 4p

artículo científico publicado en 1976

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

artículo científico publicado en 2015

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

artículo científico publicado en 2014

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

artículo científico publicado en 2004

Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci

Heterotaxy with left atrial isomerism in a patient with deletion 18p

scientific article published on 01 September 2000

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

artículo científico publicado en 2010

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

artículo científico publicado en 2017

High conservation of the trinucleotide [CTG]n repeat at the myotonic dystrophy locus in nonhuman primates

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

artículo científico publicado en 2010

High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.

artículo científico publicado en 2004

High specificity of quantitative methylation-specific PCR analysis for MGMT promoter hypermethylation detection in gliomas

artículo científico publicado en 2009

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

artículo científico publicado en 2009

How many breaks do we need to CATCH on 22q11?

artículo científico publicado en 1996

Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia

artículo científico publicado en 1998

Human elongation factor EF-1 beta: cloning and characterization of the EF1 beta 5a gene and assignment of EF-1 beta isoforms to chromosomes 2,5,15 and X

artículo científico publicado en 1993

Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome

artículo científico publicado en 1996

Hyperthrophic cardiomyopathy and thePTPN11 gene

article

Hypochondrogenesis.

artículo científico publicado en 2006

Hypopigmented skin patches in 17q21.31 microdeletion syndrome

artículo científico publicado en 2014

Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome

medical journal article

Hypoplastic left heart syndrome and 21q22.3 deletion

article published in 2015

IRS1 G972R polymorphism and type 2 diabetes: a paradigm for the difficult ascertainment of the contribution to disease susceptibility of 'low-frequency-low-risk' variants.

artículo científico publicado en 2009

Identification of 4 ataxia telangiectasia cell lines hypersensitive to γ-irradiation but not to hydrogen peroxide

artículo científico publicado en 1989

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

artículo científico publicado en 2002

Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay.

artículo científico publicado en 2004

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients

article

Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients

artículo científico publicado en 1993

Identification of type A, B, E, and F botulinum neurotoxin genes and of botulinum neurotoxigenic clostridia by denaturing high-performance liquid chromatography.

artículo científico publicado en 2004

Identification ofTBX5mutations in a series of 94 patients with Tetralogy of Fallot

artículo científico publicado en 2014

Inactive normal X in a female leukaemic patient with an acquired X/autosome translocation

artículo científico publicado en 1979

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

article

Increased Erythrocyte Adenosine Deaminase Activity without Haemolytic Anaemia

artículo científico publicado en 1986

Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12).

artículo científico publicado en 1979

Increased activity of glutathione S-transferase and fast decay of reduced glutathione in Fanconi's anemia erythrocytes

artículo científico publicado en 1984

Increased rate of superoxide ion generation in Fanconi anemia erythrocytes

artículo científico publicado en 1985

Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome

artículo científico publicado en 2000

Infantile cortical hyperostosis and COL1A1 mutation in four generations

artículo científico publicado en 2011

Infectious Hepatitis: A Possible Mitogenic Factor ⬇️

artículo científico publicado el 1 de febrero de 1971

Inosine-containing primers in human papillomavirus detection by polymerase chain reaction

artículo científico publicado en 1992

Interaction between PPARgamma2 variants and gender on the modulation of body weight.

artículo científico publicado en 2008

Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome.

artículo científico publicado en 2007

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

artículo científico publicado en 2008

Interstitial deletion 13q syndromes: a report on two unrelated patients.

artículo científico publicado en 1979

Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome

artículo científico publicado en 1993

Intrafamiliar clinical variability of Circumferential Skin Creases Kunze Type caused by a novel heterozygous mutation of N-terminal TUBB gene.

artículo científico publicado en 2018

Isolation and characterization of a novel gene from the DiGeorge chromosomal region that encodes for a mediator subunit

artículo científico publicado en 2001

Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome

artículo científico publicado en 1999

Isolation and cloning by a polymerase chain reaction of a genomic DNA fragment of the human slow skeletal troponin (TNNT1) gene

artículo científico publicado en 1993

JAG1Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot

scientific article published on 16 August 2013

Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.

artículo científico publicado en 1995

Joubert Syndrome and related disorders

artículo científico publicado en 2010

Joubert syndrome and related disorders

artículo científico publicado en 2013

Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers.

artículo científico publicado en 2009

KBG syndrome

artículo científico publicado en 2006

KBG syndrome in a cohort of Italian patients

article

Kabuki syndrome: clinical and molecular diagnosis in the first year of life

artículo científico

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

artículo científico publicado en 2015

Kinematic and diffusion tensor imaging definition of familial Marcus Gunn jaw-winking synkinesis.

artículo científico publicado en 2012

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

artículo científico publicado en 2001

LEOPARD syndrome: clinical diagnosis in the first year of life

artículo científico publicado en 2006

LGI1 gene mutation screening in sporadic partial epilepsy with auditory features

article

Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study

artículo científico publicado en 2008

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome.

artículo científico publicado en 2015

Leopard syndrome

artículo científico publicado en 2008

Letter: Au-SH antigen and lymphocyte transformation

artículo científico publicado en 1973

Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene

article

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

artículo científico publicado en 1989

Linkage relationships between retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome

scientific article published on 01 January 1983

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22

artículo científico publicado en 1999

Low doses of dexamethasone constantly delivered by autologous erythrocytes slow the progression of lung disease in cystic fibrosis patients

artículo científico publicado en 2004

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita

artículo científico publicado en 2011

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

artículo científico publicado en 2009

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

article

Male Hypogonadism in Myotonic Dystrophy is Related to (Ctg)N Triplet Mutation

artículo científico publicado en 1994

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

artículo científico publicado en 2002

Mapping a dominant form of multinodular goiter to chromosome Xp22

artículo científico publicado en 2000

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.

artículo científico publicado en 2001

Mating between two balanced translocation carriers in two unrelated families

scientific article published on 01 January 1983

Mediterranean diet and health: food effects on gut microbiota and disease control

artículo científico publicado en 2014

Meiotic drive at the myotonic dystrophy locus

artículo científico publicado en 1994

Meta-omic platforms to assist in the understanding of NAFLD gut microbiota alterations: tools and applications

artículo científico publicado en 2014

Microarray analysis identifies a common set of cellular genes modulated by different HCV replicon clones

artículo científico publicado en 2008

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

artículo científico publicado en 2005

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

artículo científico publicado en 2015

Molecular analysis ofPRKAG2,LAMP2, andNKX2-5genes in a cohort of 125 patients with accessory atrioventricular connection

article

Molecular characterization of the H319Q galactosemia mutation.

artículo científico publicado en 1993

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

artículo científico publicado en 2003

Multidimensional Prognostic Index based on a comprehensive geriatric assessment predicts short-term mortality in older patients with heart failure

artículo científico publicado en 2009

Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease

artículo científico publicado en 2010

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

article

Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux

artículo científico publicado en 2009

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

artículo científico publicado en 2009

Mutation screening of the DYT6/THAP1 gene in Italy

artículo científico publicado en 2009

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

artículo científico publicado en 2011

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

artículo científico publicado en 2004

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

artículo científico publicado en 2011

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

artículo científico publicado en 2006

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

artículo científico publicado en 2009

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

artículo científico publicado en 2015

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

artículo científico publicado en 2010

Mutations in PYCR1 cause cutis laxa with progeroid features

artículo científico publicado en 2009

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

artículo científico publicado en 2010

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

artículo científico publicado en 2000

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

artículo científico publicado en 2011

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

artículo científico publicado en 2008

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

artículo científico publicado en 1999

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

artículo científico publicado en 2003

Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.

artículo científico publicado en 2004

Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

article

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

artículo científico publicado en 2005

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

artículo científico publicado en 2005

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization

artículo científico publicado en 2006

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

artículo científico publicado en 2012

Nasal cartilage aplasia in a family with facioaudiosymphalangism syndrome

artículo científico publicado en 2000

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

artículo científico publicado en 2007

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

artículo científico publicado en 2014

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13

artículo científico publicado en 1995

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

artículo científico publicado en 2011

Non-apolipoprotein E and apolipoprotein E genetics of sporadic Alzheimer's disease

artículo científico publicado en 2009

Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells.

artículo científico publicado en 1996

Noonan syndrome with cardiac left-sided obstructive lesions

scientific article published on 01 February 1997

Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

artículo científico publicado en 1995

Normal cognitive functions in joubert syndrome.

artículo científico publicado en 2009

North Eurasian origin of the myotonic dystrophy mutation

scientific article published on 01 January 1994

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas

article

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

article

Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor.

artículo científico publicado en 2006

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

artículo científico publicado en 2010

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

artículo científico publicado en 2012

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot

artículo científico publicado en 2011

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

artículo científico publicado en 2004

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

article

Obituary of Dr. Angelo di George

artículo científico publicado en 2010

Olfactory dysfunction in Parkinsonism caused byPINK1mutations

scholarly article by Alessandro Ferraris et al published 2009 in Movement Disorders

Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report.

artículo científico publicado en 1994

Orphanet Journal of Rare Diseases: Launch Editorial.

artículo científico publicado en 2006

Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome

artículo científico publicado en 1995

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

artículo científico publicado en 2012

PARK6 is a common cause of familial parkinsonism

artículo científico publicado en 2002

PARK6-linked parkinsonism occurs in several European families

artículo científico publicado en 2002

PCR amplification and silver stain detection of genomic DNA fragments

scientific article published on 01 September 1989

PCR protocol for DNA recovery from Spurr's-embedded muscle biopsies

artículo científico publicado en 1993

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

artículo científico publicado en 2008

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism

article

PINK1 mutations are associated with sporadic early-onset parkinsonism

artículo científico publicado en 2004

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

artículo científico publicado en 2015

PRENATAL DIAGNOSIS OF TRIOSE PHOSPHATE ISOMERASE DEFICIENCY

artículo científico publicado en 1989

PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

article

Pachydermoperiostosis: an update

artículo científico publicado en 2005

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome

artículo científico publicado en 1993

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

article

Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome

scientific article published on 01 July 1996

Partial correction of chromosome instability in Fanconi anemia by desferrioxamine

artículo científico publicado en 1989

Partial trisomy 16q resulting from maternal translocation

artículo científico publicado el 19 de junio de 1979

Pathologic features in two siblings with the Pena-Shokeir I syndrome

artículo científico publicado en 1987

Percentiles of serum uric acid and cardiometabolic abnormalities in obese Italian children and adolescents

scientific article published on 03 January 2017

Pericentric inversion of chromosome 19

artículo científico publicado en 1986

Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1

artículo científico publicado en 2009

Phylogenetic and Metabolic Tracking of Gut Microbiota during Perinatal Development

artículo científico publicado en 2015

Pigmented villonodular synovitis in a patient with Noonan syndrome andSOS1gene mutation

article

Plasmid DNA and low-frequency electromagnetic fields

artículo científico publicado en 1993

Polymerase chain reaction in the detection of mRNA transcripts from the slow skeletal troponin T (TNNT1) gene in myotonic dystrophy and normal muscle.

artículo científico publicado en 1992

Polymorphic DNA haplotypes and ΔF508 deletion in 212 Italian CF families

article

Polymorphism of the IRGM Gene Might Predispose to Fistulizing Behavior in Crohn's Disease

article

Postural anomaly of the head-neck-shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial syndrome)

scientific article published on 01 November 2003

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

artículo científico publicado en 1996

Premature centromere splitting in a presumptive mild form of Roberts syndrome

artículo científico publicado en 1984

Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk

scientific article published on 01 April 1994

Prenatal diagnosis of a fetus with an extra idic(X)(q27)

artículo científico publicado en 1989

Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma

scientific article published on 01 February 2000

Prenatal prediction of duplication 10q24 leads to qter by gene dosage of GOT1 on uncultured amniotic cells

scientific article published on 01 October 1983

Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.

artículo científico publicado en 2007

Primary hypertrophic osteoarthropathy: A new family supporting genetic heterogeneity

artículo científico publicado en 2011

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.

artículo científico publicado en 2002

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

artículo científico publicado en 2012

Protein carbonyl group content in patients affected by familiar chronic nail candidiasis

artículo científico publicado en 2003

Protocol for prenatal diagnosis of cystic fibrosis based on studies of alkaline phosphatase isoenzymes

artículo científico publicado el 1 de agosto de 1988

Pure trisomy 19p syndrome in an infant with an extra ring chromosome

scientific article published on 01 January 2005

Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss

artículo científico publicado en 2002

Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles.

scientific article published on September 2009

RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A

artículo científico publicado en 2008

RASopathies: Clinical Diagnosis in the First Year of Life

artículo científico publicado en 2011

RDDR: a dysmorphology diagnostic network for newborns in central Italy.

artículo científico

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

artículo científico publicado en 2008

Radiographic findings in Wiedemann-Rautenstrauch syndrome

artículo científico publicado en 1992

Rapid prenatal diagnosis of myotonic dystrophy in the second trimester using polymerase chain reaction.

artículo científico publicado en 1990

Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

artículo científico publicado en 2002

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

artículo científico publicado en 2016

Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association.

artículo científico publicado en 2007

Reassessment of the 12q15 deletion syndrome critical region

artículo científico publicado en 2017

Recombinant CTFR detection in CF tracheal epithelial cells following in vitro liposomeme-mediated gene transfer.

artículo científico publicado en 1997

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

artículo científico publicado en 2015

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

artículo científico publicado en 2009

Recurrent triploidy of maternal origin

Red blood cell adenine nucleotides abnormalities in down syndrome

scientific article published on 01 January 1985

Red blood cell hexokinase in Fanconi's anemia

artículo científico publicado en 1984

Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.

artículo científico publicado en 1999

Reference ranges of HOMA-IR in normal-weight and obese young Caucasians

artículo científico publicado en 2015

Regional Mapping of Hexokinase-1 within the Short Arm of Chromosome 10

scientific article published on 01 January 1984

Regional mapping of the locus for hexokinase-1 (HK1)

artículo científico publicado en 1982

Relationship between CARD15, SLC22A4/5, and DLG5 polymorphisms and early-onset inflammatory bowel diseases: an Italian multicentric study.

artículo científico publicado en 2006

Reliability of DHPLC in mutational screening of ?-globin (HBB) alleles

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Report of a third family with Oliver syndrome

article published in 2005

Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.

artículo científico publicado en 2005

Response to local dihydrotestosterone treatment in a patient with partial androgen-insensitivity syndrome due to a novel mutation in the androgen receptor gene

artículo científico publicado en 2002

Reticulate vascular lesions and a large head.

artículo científico publicado en 2007

Ring chromosome 21 in healthy persons: different consequencies in females and in males

scientific article published on 01 July 1986

Ring chromosomes and leukaemia

artículo científico publicado en 1975

Risk of Congenital Heart Defects in Relatives of Patients With Atrioventricular Canal

artículo científico publicado en 1993

Role of peroxisome proliferator-activated receptor gamma in amyloid precursor protein processing and amyloid beta-mediated cell death.

artículo científico publicado en 2005

Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia

artículo científico publicado en 2003

SCHIZOPHRENIA AND LYMPHOCYTE MITOTIC CAPACITY

artículo científico publicado en 1970

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

artículo científico publicado en 2013

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

artículo científico publicado en 2010

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

artículo científico publicado en 2011

Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot

scientific article published on 17 March 2011

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

article

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant.

artículo científico publicado en 1995

Search for 22q11 deletion in non-syndromic conotruncal cardiac defects

artículo científico publicado en 1996

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects

artículo científico publicado en 2011

Searching for Psoriasis Susceptibility Genes in Italy: Genome Scan and Evidence for a New Locus on Chromosome 1

article

Sequence-specific modification of a beta-thalassemia locus by small DNA fragments in human erythroid progenitor cells

artículo científico publicado en 2007

Sequence-specific modification of genomic DNA by small DNA fragments

artículo científico publicado en 2003

Sequence-specific modification of genomic DNA by small DNA fragments

Serum levels of malondialdehyde and 4-hydroxy-2,3-nonenal in patients affected by familial chronic nail candidiasis.

artículo científico publicado en 2004

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

artículo científico publicado en 2003

Severe truncal valve dysplasia: association with DiGeorge syndrome?

scientific article published on 01 September 1998

Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome

artículo científico publicado en 2008

Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management.

artículo científico publicado en 2007

Shells and heart: Are human laterality and chirality of snails controlled by the same maternal genes?

article

Simultaneous detection of ΔF508, G542X, N1303K, G551D, and 1717-1G→A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay

artículo científico publicado en 1995

Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome

artículo científico publicado en 1995

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia

artículo científico publicado en 2003

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

artículo científico publicado en 2015

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations

artículo científico publicado en 2009

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles

artículo científico publicado en 2004

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

artículo científico publicado en 2005

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study ⬇️

artículo científico publicado el 1 de octubre de 1997

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

article

Spontaneous mitoses in direct preparations from peripheral blood of schizophrenic patients

artículo científico publicado en 1969

Spontaneous regression of exostoses: Two case reports

scientific article published on 01 January 1995

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.

artículo científico publicado en 2015

Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

scientific journal article

Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).

artículo científico publicado en 1998

Study of the effects on DNA of electromagnetic fields using clamped homogeneous electric field gel electrophoresis

artículo científico publicado en 1991

Survey of medical genetic services in Italy: year 2011.

artículo científico publicado en 2016

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

artículo científico publicado en 1995

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

artículo científico publicado en 2007

Syndromic non-compaction of the left ventricle: associated chromosomal anomalies

artículo científico publicado en 2012

T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome

artículo científico publicado en 2000

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

TBX2 gene duplication associated with complex heart defect and skeletal malformations.

artículo científico publicado en 2010

TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretion

artículo científico publicado en 2010

Targeted correction of a defective selectable marker gene in human epithelial cells by small DNA fragments

artículo científico publicado en 2001

Tetraploidy (92,XXYY) in an acute nonlymphocytic leukemia (M1) patient following autologous bone marrow transplantation

artículo científico publicado en 1988

The 18ph+ chromosome heteromorphism

artículo científico publicado en 1994

The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

artículo científico publicado en 2015

The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism

artículo científico publicado en 2003

The Multidimensional Prognostic Index (MPI), based on a comprehensive geriatric assessment predicts short- and long-term mortality in hospitalized older patients with dementia

artículo científico publicado en 2009

The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease

artículo científico publicado en 2005

The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy

artículo científico publicado en 2010

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

artículo científico publicado en 2011

The Q121/Q121 genotype of ENPP1/PC-1 is associated with lower BMI in non-diabetic whites

artículo científico publicado en 2007

The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes

artículo científico publicado en 2008

The allelic variant of LAR gene promoter -127 bp T-->A is associated with reduced risk of obesity and other features related to insulin resistance

artículo científico publicado en 2004

The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings

article published in 2011

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

artículo científico publicado en 2005

The dynamic genomics of myotonic dystrophy and its clinical relevance: an overview.

artículo científico publicado en 1993

The effect of aphidicolin on Fanconi's anemia lymphocyte chromosomes

artículo científico publicado en 1985

The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy

artículo científico publicado en 2005

The heart and shell. Anatomical and genetic similarities

artículo científico publicado en 2011

The human gut microbiota: a dynamic interplay with the host from birth to senescence settled during childhood

artículo científico publicado en 2014

The internet user profile of Italian families of patients with rare diseases: a web survey.

artículo científico publicado en 2013

The link between cytogenetics and mendelism

artículo científico publicado en 1995

The missing ApoE allele

artículo científico publicado en 2007

The multidimensional prognostic index predicts short- and long-term mortality in hospitalized geriatric patients with pneumonia

artículo científico publicado en 2009

The phenotype of partial dup(7q) reconsidered: a report of five new cases ⬇️

artículo científico publicado el 1 de julio de 1988

The policy of public health genomics in Italy

article

The possibility of prenatal diagnosis by gene dosage: confirmation of duplication 10q24 to qter from GOT-1 activity in fetal erythrocytes

scientific article published on 01 July 1981

The prevalence of HPV16DNA in normal and pathological cervical scrapes using the polymerase chain reaction

artículo científico publicado en 1992

The radiological pattern associated with the trisomy of the short arm of chromosome No 4.

artículo científico publicado en 1975

The up-to-date molecular genetics of cystic fibrosis

artículo científico publicado en 1994

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

article

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa

article

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

artículo científico publicado en 2010

Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.

artículo científico publicado en 2009

Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease

artículo científico publicado en 2015

Transposition of the great arteries associated with deletion of chromosome 22q11

artículo científico publicado en 1995

Tricuspid atresia and 22q11 deletion

artículo científico publicado en 1997

Trisomy 2q ⬇️

artículo científico publicado el 1 de enero de 1975

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development

artículo científico publicado en 1994

Turner's syndrome with atrioventricular canal

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

artículo científico publicado en 2005

Two mosaic-YY males carrying asymmetric Y chromosomes

scientific article published on 01 January 1997

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

Type 2 deiodinase polymorphism (threonine 92 alanine) predicts L-thyroxine dose to achieve target thyrotropin levels in thyroidectomized patients.

artículo científico publicado en 2007

UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?

scientific article published on 01 July 1999

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome

artículo científico publicado en 1997

ULTRASOUND AND MOLECULAR MID–TRIMESTER PRENATAL DIAGNOSIS OFDE NOVO ACHONDROPLASIA

artículo científico publicado en 1996

URÆMIA AND MAST-CELL PROLIFERATION

scientific article published in The Lancet

Ultrastructural and biological characterization of human choroid cell cultures transformed by Simian Virus 40.

artículo científico publicado en 1983

Umbilical cord pseudocyst in trisomy 13

artículo científico publicado en 1989

Understanding probiotics' role in allergic children: the clue of gut microbiota profiling

artículo científico publicado en 2015

Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy

article

Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study

artículo científico publicado en 2004

Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies

artículo científico publicado en 2002

X LONG-ARM DELETION WITH FEATURES OF TURNER'S SYNDROME

artículo científico publicado en 1974

X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart

scientific article published on 01 August 2010

ZFPM2/FOG2 andHEY2 genes analysis in nonsyndromic tricuspid atresia

article

[Effects of oxidants and antioxidants on chromosome breaks in Fanconi's anemia]

artículo científico publicado en 1983

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene

artículo científico publicado en 1996

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

artículo científico publicado en 2014

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