Search Results - "Le Gall, Yves"
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Gender‐specific phenotypic expression and screening strategies in C282Y‐linked haemochromatosis: a study of 9396 French people
Published in British journal of haematology (01-09-2002)“…Most features of C282Y‐linked haemochromatosis support the implementation of population screening of the disorder in Caucasians. However, the penetrance of…”
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The response of sea turtles to vocalizations opens new perspectives to reduce their bycatch
Published in Scientific reports (17-07-2024)“…Incidental capture of non-target species poses a pervasive threat to many marine species, with sometimes devastating consequences for both fisheries and…”
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Five distinct biological processes and 14 differentially expressed genes characterize TEL/AML1-positive leukemia
Published in BMC genomics (23-10-2007)“…The t(12;21)(p13;q22) translocation is found in 20 to 25% of cases of childhood B-lineage acute lymphoblastic leukemia (B-ALL). This rearrangement results in…”
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Particulate matter dynamics and transformations in a recirculating aquaculture system: application of stable isotope tracers in seabass rearing
Published in Aquacultural engineering (01-10-2004)“…The control of adverse effects and the possibility of removing suspended solids from recirculating aquaculture systems (RAS) are the principal challenges…”
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Insulin resistance–associated hepatic iron overload
Published in Gastroenterology (New York, N.Y. 1943) (01-11-1999)“…Background & Aims: Hepatic iron overload has been reported in various metabolic conditions, including the insulin-resistance syndrome (IRS) and nonalcoholic…”
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Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations
Published in Molecular human reproduction (01-12-2000)“…Many studies have shown that congenital absence of the vas deferens (CAVD) is a genital cystic fibrosis transmembrane conductance regulator (CFTR)-mediated…”
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Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene
Published in Human molecular genetics (15-08-2001)“…Hereditary haemochromatosis is an autosomal recessive disease which results in iron overload, and it is the most frequently inherited disorder in Caucasian…”
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Polymorphisms in the HFE gene
Published in Human heredity (01-01-1999)“…Hereditary hemochromatosis is an autosomal recessive disease characterized by progressive iron overload. Recently, a candidate gene named HFE was isolated on…”
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Over-expression of wild-type and mutant HFE in a human melanocytic cell line reveals an intracellular bridge between MHC class I pathway and transferrin iron uptake
Published in Biology of the cell (01-07-2003)“…Hereditary hemochromatosis (HH) is a frequent recessive disorder of iron metabolism characterised by systemic iron overload. In Northern Europe, more than 90%…”
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Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure
Published in Human mutation (1999)“…Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X‐linked neuromuscular disorders associated with alterations in the dystrophin gene…”
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Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
Published in Journal of hepatology (01-08-2003)“…We report a family affected with dominant autosomal iron overload related to a new mutation in ferroportin 1, a transmembrane protein involved in the export of…”
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A continuous restriction map from HLA-E to HLA-F. Structural comparison between different HLA-A haplotypes
Published in Immunogenetics (New York) (01-02-1992)“…The class I region of the human major histocompatibility complex contains genes encoding the classical transplantation antigens (HLA-A, B, and C), at least…”
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Electrochemical behaviour of 3, 4-ethylenedioxythiophene functionalized by a sulphonate group. Application to the preparation of poly(3, 4-ethylenedioxythiophene) having permanent cation-exchange properties
Published in Journal of electroanalytical chemistry (Lausanne, Switzerland) (20-02-1998)“…We report the synthesis of a new 3,4-ethylenedioxythiophene monomer functionalized by a sulphonate group. Its electrochemical polymerization in water allows…”
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A genotypic study of 217 unrelated probands diagnosed as “genetic hemochromatosis” on “classical” phenotypic criteria
Published in Journal of hepatology (01-04-1999)“…Background/Aims: The HFE gene is a crucial candidate gene for hemochromatosis. The aims of this study were to assess the HFE genotypic profile in a large…”
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A candidate gene for hemochromatosis : frequency of the C282Y and H63D mutations
Published in Human genetics (01-10-1997)“…The gene whose alteration causes hereditary hemochromatosis (HFE according to the international nomenclature) was, more than 20 years ago, shown to map to…”
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Transcriptome variations in human CaCo-2 cells: a model for enterocyte differentiation and its link to iron absorption
Published in Genomics (San Diego, Calif.) (01-05-2004)“…Complete clinical expression of the HFE1 hemochromatosis is very likely modulated by genes linked to duodenal iron absorption, whose level is conditioned by…”
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Promoter analysis of the human translation termination factor 1 gene
Published in Gene (16-10-2003)“…The human translation termination factor 1 ( ETF1) gene encodes a class-1 release factor, eRF1, which catalyses termination of protein synthesis at all three…”
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Genetics of hemochromatosis: HLA association and mode of inheritance
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Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results
Published in Nature genetics (01-11-1999)“…Two recent reports have described a polymorphism in HFE in the binding region of a PCR Primer Widely used in diagnosis of hereditary haemochromatosis (HHC),…”
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