Search Results - "LE GALL, J. Y"

Insulin resistance–associated hepatic iron overload by Mendler, Michel-Henry, Turlin, Bruno, Moirand, Romain, Jouanolle, Anne-Marie, Sapey, Thierry, Guyader, Dominique, le Gall, Jean-Yves, Brissot, Pierre, David, Véronique, Deugnier, Yves

“…Background & Aims: Hepatic iron overload has been reported in various metabolic conditions, including the insulin-resistance syndrome (IRS) and nonalcoholic…”
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Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives by Moirand, Romain, Jouanolle, Anne-Marie, Brissot, Pierre, Le Gall, Jean-Yves, David, Véronique, Deugnier, Yves

“…Background & Aims: Two mutations have been described in the HFE gene: C282Y and H63D. The aim of this study was to determine the phenotype of the different HFE…”
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Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly by Odent, S., Attié-Bitach, T., Blayau, M., Mathieu, M., Augé, J., Delezoïde, A.L., Le Gall, J.Y., Le Marec, B., Munnich, A., David, V., Vekemans, M.

“…Holoprosencephaly (HPE), the most common developmental defect of the forebrain and the face, is genetically heterogeneous. One of the genes involved, Sonic…”
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Effect of fish size and hydraulic regime on particulate organic matter dynamics in a recirculating aquaculture system: elemental carbon and nitrogen approach by Franco-Nava, M.A., Blancheton, J.P., Deviller, G., Charrier, A., Le-Gall, J.Y.

“…Understanding the capabilities of particulate organic matter removal devices is critical to the development of recirculating aquaculture systems (RAS). The…”
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Serum paraoxonase activity and paraoxonase gene polymorphism in type 2 diabetic patients with or without vascular complications by LETELLIER, C, DUROU, M. R, JOUANOLLE, A. M, LE GALL, J. Y, POIRIER, J. Y, RUELLAND, A

“…Serum paraoxonase (PON) activity and the relevance of PON gene polymorphism in vascular complications of type 2 diabetic patients were investigated in a…”
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Axonal transport of type III intermediate filament protein peripherin in intact and regenerating motor axons of the rat sciatic nerve by Chadan, S, Le Gall, J Y, Di Giamberardino, L, Filliatreau, G

“…Slow axonal transport of peripherin has been studied in the motor axons of both intact and regenerating rat sciatic nerves 7 days post-crush. The studies were…”
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Non-hyperfunctioning nodules from multinodular goiters : A minor role in pathogenesis for somatic activating mutations in the TSH-receptor and Gsα subunit genes by DERRIEN, C, SONNET, E, GICQUEL, I, LE GALL, J.-Y, POIRIER, J.-Y, DAVID, V, MAUGENDRE, D

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A genotypic study of 217 unrelated probands diagnosed as “genetic hemochromatosis” on “classical” phenotypic criteria by Brissot, Pierre, Moirand, Romain, Jouanolle, Anne-Marie, Guyader, Dominique, Gall, Jean-Yves Le, Deugnier, Yves, David, Véronique

“…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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Eukaryotic translation termination factor gene (ETF1/eRF1) maps at D5S500 in a commonly deleted region of chromosome 5q31 in malignant myeloid diseases by Guenet, L, Henry, C, Toutain, B, Dubourg, C, Le Gall, J Y, David, V, Le Treut, A

“…The human genome contains four ETF1 (eukaryotic translation termination factor 1) homologous sequences, localized on chromosomes 5, 6, 7 and X, and…”
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Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene by THENIE, Agnès C, GICQUEL, Isabelle M, HARDY, Serge, FERRAN, Hélène, FERGELOT, Patricia, LE GALL, Jean-Yves, MOSSER, Jean

“…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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Transferrin saturation and screening of genetic hemochromatosis by Vernet, M, Le Gall, J Y

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Familial screening for genetic haemochromatosis by means of DNA markers by Yaouanq, J, el Kahloun, A, Chorney, M, Jouanolle, A M, Mauvieux, V, Perichon, M, Blayau, M, Pontarotti, P, Le Gall, J Y, David, V

“…Genetic haemochromatosis (HFE) is a frequent and potentially fatal disease. Early phlebotomies may prevent complications. The recessive gene for HFE is unknown…”
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Analysis of 160 CF chromosomes : detection of a novel mutation in exon 20 by DORVAL, I, ODENT, S, BLAYAU, M, JEZEQUEL, P, JOURNEL, H, CHAUVEL, B, DABADIE, A, ROUSSEY, M, LE GALL, J. Y, LE MAREC, B, DAVID, V

“…The cystic fibrosis (CF) gene has been cloned and a major mutation identified (delta F508). This 3-bp deletion has been found in approximately 70% of CF…”
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Localization of seven new genes around the HLA-A locus by el Kahloun, A, Chauvel, B, Mauvieux, V, Dorval, I, Jouanolle, A M, Gicquel, I, Le Gall, J Y, David, V

“…A yeast artificial chromosome (YAC B30) with a 320 kb insert of genomic DNA which includes the HLA-A gene was used to screen a cDNA library of human duodenal…”
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DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family by DAVID, V, PAUL, P, BOUREL, M, SIMON, M, LE GALL, J.-Y, FAUCHET, R, GICQUEL, I, DUGAST, I, LE MIGNON, L, YAOUANQ, J, COHEN, D

“…The metabolic error involved in idiopathic hemochromatosis, as well as the underlying genetic defect remain unknown. It has, however, been recently shown that…”
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Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype by Jézéquel, P, Chauvel, B, Le Treut, A, Le Gall, J Y, David, V, Le Lannou, D, Blayau, M

“…Congenital bilateral aplasia of the vas deferens (CBAVD) in healthy males accounts for at least 6% of cases of non-iatrogenic obstructive azoospermia. CBAVD is…”
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Particulate matter dynamics and transformations in a recirculating aquaculture system: application of stable isotope tracers in seabass rearing by Franco-Nava, Miguel-Angel, Blancheton, Jean-Paul, Deviller, Geneviève, Le-Gall, Jean-Yves

“…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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Properdin factor B (Bf) and glyoxalase in Graves' disease by Allannic, H, Fauchet, R, Lorcy, Y, Phengsavath, H, Gueguen, M, Knoi, T D, Genetet, B, Le Gall, J Y

“…Patients with Graves' disease were phenotyped for properdin factor B (Bf) and glyoxalase, which are coded for by genes mapping close to the HLA region on the…”
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Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis? by Jouanolle, A M, Fergelot, P, Raoul, M L, Gandon, G, Roussey, M, Deugnier, Y, Feingold, J, Le Gall, J Y, David, V

“…Hemochromatosis (GH) is an inborn error of iron metabolism, characterized by progressive iron loading that, if untreated, causes high morbidity and death. The…”
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A continuous restriction map from HLA-E to HLA-F. Structural comparison between different HLA-A haplotypes by ABDEL EL KAHLOUN, VERNET, C, JOUANOLLE, A.-M, BORETTO, J, MAUVIEUX, V, LE GALL, J.-Y, DAVID, V, PONTAROTTI, P

“…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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