HUMAN GENETICS

Rivista

Codice:

E078681

ISSN:

0340-6717

Dati Generali

Pubblicazioni (78)

A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome

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A functional strategy to characterize expression Quantitative Trait Loci

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A new restriction fragment length polymorphism in the haptoglobin gene region

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ATXN-2 CAG repeat expansions are interrupted in ALS patients.

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Allelic association of microsatellites of 6p in Italian hemochromatosis patients

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Alport syndrome caused by a 5' deletion within the COL4A5 gene.

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Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

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Dicentric Y chromosome in a patient with gonadal dysgenesis and seminoma

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Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants

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Extra band in the 9qh+ chromosome in a normal father and in his child with multiple congenital anomalies

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Gene symbol: AGXT. Disease: primary hyperoxaluria type I

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Gene symbol: KCNH2.

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Gene symbol: KCNQ1.

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Gene symbol: SCN5A.

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Gene symbol: SCN5A. Disease: Brugada syndrome.

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Gene symbol: SLC3A1. Disease: Cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC3A1. Disease: cystinuria.

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Gene symbol: SLC7A9. Disease: cystinuria, type I.

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Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

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Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

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Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

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Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

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Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

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Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

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Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

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Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

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Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

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Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

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Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

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Gene symbol: SLC7A9. Disease: cystinuria, untyped.

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Gene symbol: SLC7A9. Disease: cystinuria, untyped.

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Gene symbol: SLC7A9. Disease: cystinuria, untyped.

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Genetic regulation of gamma gene expression: study of the interaction of beta-thalassemia with heterocellular HPFH.

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Gonadal agenesis in a phenotypically normal female with positive H-Y antigen.

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Gradient of distribution in Europe of the major CF mutation and of its associated haplotype

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Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.

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Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation

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Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies

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Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter)

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

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Loss of heterozygosity of the L-myc proto-oncogene in human breast tumors.

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Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine:glyoxylate aminotransferase gene

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Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion, and one polymorphism

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Molecular evidence of triplication in the haptoglobin Johnson variant gene.

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Multiple levels of analysis of an IGHG4 gene deletion.

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Multiple sutural synostosis and congenital cataracts

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New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder

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New polymorphisms and markers in the HLA class I region: relevance to hereditary hemochromatosis (HFE)

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Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria

Abstract

Ordering of markers in the pericentromeric region of chromosome 10.

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Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome.

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Properdin factor B polymorphism in continental Italy and Sardinia.

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Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport Syndrome.

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Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot

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TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences and location within the gene

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The Cystic Fibrosis D 508 Mutation in the Albanian Population

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The G4 gene is duplicated in 44% of human immunoglobulin heavy chain constant region haplotypes.

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The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples.

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Through 40,000 years of human presence in Southern Europe: the Italian case study

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Trisomy-8 mosaicism: report of a case

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Variability of the immunoglobulin heavy chain constant region locus: a population study.

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delta F508 deletion in cystic fibrosis in Italian families.

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HUMAN GENETICS

Dati Generali

Pubblicazioni (78)