EUROPEAN JOURNAL OF HUMAN GENETICS

Rivista

Codice:

E060666

ISSN:

1018-4813

Dati Generali

Pubblicazioni (85)

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

Articolo

9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion

Abstract

A LARGE GENOMIC DELETION UPSTREAM OF THE LAMIN B1 GENE (LMNB1) LIKELY CAUSES ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY DUE TO ALTERATION OF THE REGULATORY LANDSCAPE OF LMNB1

Abstract

A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy

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A bird’s-eye view of Italian genomic variation through whole-genome sequencing

Articolo

A familial case of DD/ID variable psychiatric phenotype and optic atrophy due to a novel 1,5 Mb deletion on 2q29

Abstract

A germline mismatch repair mutation possibly leading to a de novo NF1 germline mutation.

Abstract

A missense mutation of the NBS1 gene altering DNA damage response in a patient with familial early-onset breast cancer

Contributo in Atti di convegno

A new CARD15 mutation in Blau syndrome

Articolo

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

Articolo

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Articolo

Adult phenotype of Beckwith-Wiedemann syndrome

Abstract

An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction.

Articolo

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient

Articolo

An atypical 7q11.23 deletion in a normal IQ Williams-Beurensyndrome patient

Abstract

Analysis of TP53 Arg72Pro and MDM2 SNP309 T>G polymorphisms as modifier factors in hereditary retinoblastoma

Contributo in Atti di convegno

Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients

Articolo

Ancestral genetic components are consistently associated with the complex trait landscape in European biobanks

Articolo

Angiotensin I-Converting Enzyme (ACE) and Low-density lipoprotein Receptor-related Protein-Associated Protein 1 (LRPAP1) gene polymorphisms in a population of northern Italy

Contributo in Atti di convegno

Apoptosis resistance following DNA damage in Ataxia Telangiectasia and Nijmegen Breakage Syndrome cells is conferred by a novel defect in mitochondrial p53 accumulation

Contributo in Atti di convegno

Array-CGH analysis in a patient with Acrocallosal Syndrome

Abstract

Arrays-CGH analysis of 48 patients with complex phenotype

Abstract

Autosomal dominant Alport syndrome: molecular analysis of theCOL4A4 gene and clinical outcome

Contributo in Atti di convegno

Bi-allelic MSH6 mutations in a case of early onset multiple primary tumors resembling Lynch and Turcot syndrome

Abstract

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

Articolo

Characterization of phenylketonuria alleles in the Italian population.

Articolo

Clinical and molecular characterization of a cohort of 49 children affected by Beckwith-Wiedemann Syndrome and related congenital defects

Abstract

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.

Articolo

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD

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Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)

Articolo

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease

Articolo

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)

Articolo

Differences in local population history at the finest level: the case of the Estonian population

Articolo

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome

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Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

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Evidence of linkage between susceptibility to multiple sclerosis and HLA-class II loci in Italian multiplex families

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Extreme clinical variability in Noonan syndrome with loose anagen hair due to Ser2Gly SHOC mutation

Abstract

Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder

Abstract

Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis

Articolo

Functional analysis of new Blau syndrome-associated CARD15 mutations

Contributo in Atti di convegno

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.

Abstract

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

Abstract

Haemochromatosis gene mutations in a clustered Italian population: Evidence of high prevalence in people of Celtic ancestry

Articolo

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease.

Articolo

Heterotopic bone formation not related to PHO/FOP disease: a new entity

Abstract

Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans

Abstract

Homozygosity analysis in amyotrophic lateral sclerosis.

Articolo

Human genomic diversity in Europe: a summary of recent research and prospects for the future.

Articolo

Incidence of Beckwith-Wiedemann syndrome

Abstract

Juvenile and adult hemochromatosis are distinct genetic disorders

Articolo

Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.

Articolo

KRIT1 loss of function induces a chronic Nrf2-mediated adaptive homeostasis that sensitizes cells to oxidative stress: implication for Cerebral Cavernous Malformation disease

Abstract

Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance

Abstract

MDM2 and TP53 are modifier genes of retinoblastoma

Contributo in Atti di convegno

Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment.

Abstract

Molecular and clinical characterization of 37 patients with Noonan syndrome

Abstract

Mutation analysis of the MSH6 gene in 52 MLH1/MSH2-negative, HNPCC suspect Italian patients

Contributo in Atti di convegno

Myhre syndrome. report of three unrelated patients

Abstract

Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis

Articolo

Oligodontia segregating with a 7p21.2p21.1 ∼ Mb duplication in an Italian family with three affected siblings

Abstract

Pharmacogenetics studies in patients with advanced lungcancer: prognostic value of the thymidylate synthase 2R/3Rpolymorphism and predictivity of NER factor XPD K751Qand XRCC1 R399Q polymorphisms following platinum-basedchemotherapy

Contributo in Atti di convegno

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Articolo

Prenatal phenotype in Beckwith-Wiedemann spectrum

Abstract

Primary hyperoxaluria in Italy

Contributo in Atti di convegno

Primary hyperoxaluria: analysis of GRHPR, HOGA1 genes and the promoter-sequence of AGXT gene in the Italian population

Abstract

RNASEL Arg462Gln is significantly associated with Prostate cancer in the Italian population

Contributo in Atti di convegno

RNASEL R462Q is significantly associated with Prostate Cancer in the Italian population

Contributo in Atti di convegno

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe

Articolo

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply

Articolo

Role of interferon-gamma gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study

Articolo

SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician

Abstract

Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.

Articolo

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

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Small effective population size and genetic homogeneity in the Val Borbera isolate.

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Spell-checking our genes: report from the symposium Mutation Detection in Large Genes, 14 May 1999, Vicoforte, Italy.

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Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

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The Italian genome reflects the history of Europe and the Mediterranean basin

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The phenotype of recurrent 10q22q23 deletions and duplications.

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Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

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Transcriptional hallmarks of Noonan syndrome in peripheral blood mononuclear cells

Abstract

Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity

Abstract

Two new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations identified in a cohort of Italian breast and ovarian cancer families.

Abstract

Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency

Articolo

ZIC 3 mutation analysis in five familial cases of heterotaxy: identification of a new mutation

Abstract

a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS.

Abstract

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EUROPEAN JOURNAL OF HUMAN GENETICS

Dati Generali

Pubblicazioni (85)