Search Results - "GICQUEL, I"

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis by Démurger, F., Pasquier, L., Dubourg, C., Dupé, V., Gicquel, I., Evain, C., Ratié, L., Jaillard, S., Beri, M., Leheup, B., Lespinasse, J., Martin-Coignard, D., Mercier, S., Quelin, C., Loget, P., Marcorelles, P., Laquerrière, A., Bendavid, C., Odent, S., David, V.

“…Rhombencephalosynapsis is an uncommon, but increasingly recognized, cerebellar malformation defined as vermian agenesis with fusion of the hemispheres. The…”
Get full text

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype by Bendavid, C, Haddad, B R, Griffin, A, Huizing, M, Dubourg, C, Gicquel, I, Cavalli, L R, Pasquier, L, Shanske, A L, Long, R, Ouspenskaia, M, Odent, S, Lacbawan, F, David, V, Muenke, M

“…Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain. At birth, nearly 50% of children with HPE have cytogenetic…”
Get full text

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…”
Get full text

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

Get full text

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases by Mercier, Sandra, Dubourg, Christèle, Garcelon, Nicolas, Campillo-Gimenez, Boris, Gicquel, Isabelle, Belleguic, Marion, Ratié, Leslie, Pasquier, Laurent, Loget, Philippe, Bendavid, Claude, Jaillard, Sylvie, Rochard, Lucie, Quélin, Chloé, Dupé, Valérie, David, Véronique, Odent, Sylvie

“…Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon. A large European…”
Get more information

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

Get more information

A new polymorphic probe close to HLA-A by EL KAHLOUN, A, JOUANOLLE, A. M, CHORNEY, M, MAUVIEUX, V, GICQUEL, I, PONTAROTTI, P, DAVID, V

Get full text

Haemochromatosis and HLA-H by Chauvel, Bruno, Gicquel, Isabelle, Jézéquel, Pascal, Campion, Marie Laure, Fergelot, Patricia, Le Gall, Jean-Yves, David, Véronique, Yaouanq, Jacqueline, Jouanolle, Anne Marie, Carn, Gwenaelle, Andrieux, Nancy, Gandon, Gwenola, Blayau, Martine, Mosser, Jean, Bouric, Pascale

Get full text

NOTCH, a new signaling pathway implicated in holoprosencephaly by DUPE, Valérie, ROCHARD, Lucie, ODENT, Sylvie, DUBOURG, Christèle, DAVID, Veronique, MERCIER, Sandra, LE PETILLON, Yann, GICQUEL, Isabelle, BENDAVID, Claude, BOURROUILLOU, Georges, KINI, Usha, THAUVIN-ROBINET, Christel, BOHAN, Timothy P

“…Genetics of Holoprosencephaly (HPE), a congenital malformation of the developing human forebrain, is due to multiple genetic defects. Most genes that have been…”
Get full text

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes by BENDAVID, Claude, DUBOURG, Christèle, ODENT, Sylvie, DAVID, Véronique, GICQUEL, Isabelle, PASQUIER, Laurent, SAUGIER-VEBER, Pascale, DUROU, Marie-Renée, JAILLARD, Sylvie, FREBOURG, Thierry, HADDAD, Bassem R, HENRY, Catherine

“…Holoprosencephaly (HPE), the most common structural malformation of the forebrain in humans, can be detected early during pregnancy using prenatal…”
Get full text

Transcriptome variations in human CaCo-2 cells: a model for enterocyte differentiation and its link to iron absorption by Bédrine-Ferran, Hélène, Le Meur, Nolwenn, Gicquel, Isabelle, Le Cunff, Martine, Soriano, Nicolas, Guisle, Isabelle, Mottier, Stéphanie, Monnier, Annabelle, Teusan, Raluca, Fergelot, Patricia, Le Gall, Jean-Yves, Léger, Jean, Mosser, Jean

“…Complete clinical expression of the HFE1 hemochromatosis is very likely modulated by genes linked to duodenal iron absorption, whose level is conditioned by…”
Get full text

Non-hyperfunctioning nodules from multinodular goiters: a minor role in pathogenesis for somatic activating mutations in the TSH-receptor and Gsalpha subunit genes by Derrien, C, Sonnet, E, Gicquel, I, Le Gall, J Y, Poirier, J Y, David, V, Maugendre, D

“…Constitutive activation of the cAMP pathway stimulates thyrocyte proliferation. Gain-of-function mutations in Gsalpha protein have already been identified in…”
Get full text

The HFE Gene Undergoes Alternate Splicing Processes by Thénié, Agnès, Orhant, Magali, Gicquel, Isabelle, Fergelot, Patricia, Le Gall, Jean-Yves, David, Véronique, Mosser, Jean

“…ABSTRACT The MHC class I-related HFE gene appears to be involved in iron metabolism, but its pathogenic mechanism in hemochromatosis remains unknown…”
Get full text

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…”
Get more information

A 1200-kilobase transcription map encompassing the D6S105 locus at 6p21.3 by MOSSER, J, ANDRIEUX, N, FERGELOT, P, GICQUEL, I, LELAURE, V, GALIBERT, F, DAVID, V

“…The gene content of the MHC class I telomerically adjacent region, in linkage disequilibrium with hereditary hemochromatosis, has not been well characterized…”
Get full text

A new polymorphic porbe close to HLA-A by Kahloun, A.EI, Jouanolle, A.M., Chorney, M., Mauvieux, V., Gicquel, I., Pontarotti, P., David, V.

Get full text

A human homologue to the yeast omnipotent suppressor 45 maps 100 kb centromeric to HLA-A by Chauvel, B, Dorval, I, Fergelot, P, Pichon, L, Giffon, T, Gicquel, I, Le Gall, J Y, David, V

“…Idiopathic hemochromatosis is a common autosomal recessive inherited disorder of iron metabolism. The molecular defect is unknown. However, the gene…”
Get full text

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…”
Get full text