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EUROPEAN JOURNAL OF HUMAN GENETICS (ONLINE)

Rivista

Codice:

E236091

ISSN:

1476-5438

Dati Generali

Dati Generali

Pubblicazioni (57)

Ordina Pubblicazioni:

ascendente
decrescente

"Doubly heterozygous LMNA and TTN Mutations Revealed by Exome Sequencing in a Severe Form of Dilated Cardiomyopathy".

Articolo

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

Articolo

A Novel Lys 130Gln Mutation of the TAU gene

Abstract

A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia

Abstract

A novel mutation in SLC1A3 gene associated with episodic ataxia

Contributo in Atti di convegno

A novel mutation in the sodium-channel gene SCN1A in a patient with severe myoclonic epilepsy (SMEI)

Abstract

A paternally inherited 1.4 kb deletion of the 11p15.5 Imprinting Center 2 is associated with a mild familial Silver-Russell syndrome phenotype

Articolo

A rapid non-isotopic method for sizing CTG repeat expansion in myiotonic dystrophy.

Abstract

ADCY5 screening in pediatric-onset hyperkinetic movement disorders: report of three new Italian families

Abstract

Alanine expansions associated with Congenital Central Hypoventilation Syndrome (CCHS) impair PHOX2B homeodomainmediated dimerisation and nuclear import

Abstract

Analysis of mammalian gene function through mouse phenotyping

Contributo in Atti di convegno

Association study between 5-HTT gene polymorphism and Parkinson's disease.

Abstract

Association study between 5-HTT gene polymorphisms and Parkinson's disease.

Abstract

Ataxia with oculomotor apraxia in a family from southern Italy

Abstract

Autosomal dominant cerebral small vessel disease associated with HTRA1 gene mutation in an Italian family

Abstract

Brown-Vialetto-Van Laere syndrome: a case report of a family from Italy

Abstract

Comparison of NOTCH3 expression in fibroblasts from CADASIL patients versus normal controls

Abstract

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

Articolo

De novo TITF1 gene mutation causing Benign Hereditary Chorea with Hypothyroidism and Pituitary Mass

Contributo in Atti di convegno

De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions

Poster

EMQN Best Practice Guidelines for molecular genetic testing of SCAs

Articolo

Effects of aging and sex difference on immune-related phenotypes.

Poster

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

Articolo

Exome sequencing of an italian patient with dHMN

Abstract

Exome sequencing reveals two compound heterozygous DDHD2 mutations in a non consanguineous family with ARHSP-TCC

Abstract

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Articolo

Familial essential tremor is not associated with SCA12 mutation in southern Italy.

Abstract

Fine-scale human genetic structure in Western France.

Articolo

Genetic analysis of three Serbian families with GEFS+

Articolo

Genetic heterogeneity in benign infantile familial convulsions.

Abstract

Intercellular adhesion molecole 1 gene (ICAM) polymorphism:study of association with Multiple Sclerosis

Abstract

Leukocyte telomere lenght in Huntington's Disease. A study in fully penetrant and reduced penetrant alleles

Poster

Linkage study in families with febrile seizures.

Abstract

Looking for CDKN1C enhancers

Articolo

Lung expression of genes putatively involved in SARS-CoV-2 infection is modulated in cis by germline variants

Articolo

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

Articolo

Meta-analysis of 20 genome-wide linkage studies evidenced new regions linked to asthma and atopy

Articolo

Meta-analysis of genome-wide linkage studies across autoimmune diseases

Articolo

Mutation analysis if the CAPN3 gene in Italian patients with suspected LGMD type 2." 31 Maggio

Abstract

Mutational screening of GJB1, MPZ and PMP22 genes in a cohort of CMT patients from Southern Italy

Abstract

NACP/alpha- synuclein polymorphism in Parkinson's disease.

Abstract

Newly identified PHOX2B target genes as drug targets in Congenital Central Hypoventilation Syndrome (CCHS)

Abstract

No evidence for association of high and low activity alleles of COMT with Parkinson's disease.

Abstract

No evidence of association between alpha2 macroglobulin gene and Parkinson' s disease in a case-control sample.

Abstract

Parkin gene dosage analysis in late onset Parkinson's disease families

Abstract

Polymorphisms of dopamine D2, D3 and D4 receptors genes and Parkinson's disease

Abstract

Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Italian patients with hereditary spastic paraparesis

Abstract

Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions.

Articolo

Report of an ALS case associated with a new mutation in the TARDBP gene

Abstract

SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.

Articolo

Sequencing-based GWAS on peripheral blood monocyte counts in the SardiNIA cohort

Abstract

Surveillance of multiple congenital anomalies; searching for new associations

Articolo

System and pathway analysis of variants associated with immune cell levels

Poster

Systematic assessment of the immune system by genetic mapping of its quantitative dimensions

Abstract

The therapeutic potential of delta globin genein Th3/+ mice. Europ. Journal of Human Genetics.

Contributo in Atti di convegno

Three SNP aplotypes in neuroligins may correlate to autism susceptibility

Abstract

Vitamin E deficiency as a result of Chylomicron Retention Disease in autosomal recessive Marinesco-Sjogren syndrome.

Abstract

No Results Found

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