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EUROPEAN JOURNAL OF HUMAN GENETICS

Rivista

Codice:

E060666

ISSN:

1018-4813

Dati Generali

Dati Generali

Pubblicazioni (96)

Ordina Pubblicazioni:

ascendente
decrescente

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.

Articolo

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected standard karyotype.

Articolo

A 2.3Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype

Articolo

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications

Articolo

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

Articolo

A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28

Articolo

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

Articolo

Advancing intercontinental collaboration in human genetics: success story of the African and European Young Investigator Forum

Articolo

Aged parents in Sardinia: a case of reproductive longevity?

Contributo in Atti di convegno

Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta.

Articolo

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

Articolo

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Articolo

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype

Articolo

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

Articolo

Chromosome instability and nibrin protein variants in NBS heterozygotes.

Articolo

Chromothriptic events in healthy people: pay attention to "innocent" insertional translocations

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 utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT).

Articolo

Clinical utility gene card for: Joubert syndrome

Articolo

Clinical utility gene card for: Joubert syndrome - update 2013

Articolo

Clinical utility gene card for: α-1-antitrypsin deficiency.

Articolo

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

Articolo

Comment on 'CFTR gene mutations in sarcoidosis'.

Articolo

Comparison of array comparative genomic hybridization and quantitative real-time PCR-based aneuploidy screening of blastocyst biopsies

Articolo

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

Articolo

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus

Articolo

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

Articolo

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

Articolo

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

Articolo

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family

Articolo

Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus

Articolo

Distorted mitochondrial DNA sequences in schizophrenic patients

Articolo

Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?

Articolo

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe specch impairment.

Articolo

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Articolo

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Articolo

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Articolo

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

Articolo

Expanding the mutational spectrum of ReNU syndrome: insights into 5’ Stem-loop variants

Articolo

From surnames to the history of Y chromosomes: the Sardinian population as a paradigm

Articolo

Further characteristics of proto-European Y-chromosomes.

Articolo

Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection

Articolo

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

Articolo

Guidelines for molecular karyotyping in constitutional genetic diagnosis.

Articolo

Guidelines for molecular karyotyping in constitutional genetic diagnosis.

Articolo

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

Articolo

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

Articolo

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Articolo

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Articolo

Human intrachromosomal telomere-like repeats; relics of ancestral double-strand breaks repair.

Contributo in Atti di convegno

Human longevity and 11p15.5: A study in 1321 centenarians

Articolo

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Articolo

Identification of a geographical area characterized by "reproductive longevity" in the Sardinia Island

Contributo in Atti di convegno

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Articolo

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Articolo

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Articolo

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: the relevance of neuroimaging findings

Abstract

Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.

Articolo

Inverted duplications are recurrent rearrangements always associated with a distal deletion. Description of a new case involving 2q

Articolo

Inverted duplications: how many of them are mosaic?

Articolo

Inverted duplications: how many of them are mosaic?

Articolo

MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome

Articolo

MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events

Articolo

Mitochondrial DNA and Y chromosome-specific polymorphisms in the Seminole tribe of Florida

Articolo

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson’s disease in Italians

Articolo

Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).

Articolo

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.

Articolo

MtDNA and Y chromosome polymorphisms in Hungary: inferences from the Palaeolithic, Neolithic and Uralic influences on the modern Hungarian gene pool

Articolo

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

Articolo

Narrowing the deleted region associated with the 15q21 syndrome.

Articolo

Non-response to vaccines: still an enigma? B-cell transcription factor POU2F2/OCT2 is a potential candidate

Abstract

Opposite deletions/duplications of the X chromosomes:two novel reciprocal rearrangements

Articolo

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

Articolo

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Articolo

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

Articolo

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

Articolo

Refined SPG11 locus in autosomal recessive hereditary spastic paraplegia with thin corpus callosum

Abstract

Reply to Sajantila and Budowle

Articolo

Reply to jaskowski et Al

Articolo

STAG3 truncating variant as the cause of primary ovarian insufficiency

Articolo

Separating the post-Glacial coancestry of Europeanand Asian Y chromosomes within haplogroup R1a

Articolo

Sequence motif in the a1 domain of the HLA-C molecule in psoriasis

Articolo

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

Articolo

Termination of pregnancy for fetal malformations and severe genetic disorders: what are the laws in Europe?

Articolo

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

Articolo

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Articolo

The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022

Articolo

The emergence of Y-chromosome haplogroup J1e among Arabic-speaking populations

Articolo

The phenotype of recurrent 10q22q23 deletions and duplications.

Articolo

The phylogenetic and geographic structure of Y-chromosome haplogroup R1a

Articolo

The use of whole-exome sequencing to disentangle complex phenotypes

Articolo

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing

Articolo

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Articolo

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.

Articolo

Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations

Articolo

Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe

Articolo

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