Search Results - "Moraine, C"

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females by Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M

“…Variants in CLCN4 , which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked…”
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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism by Laumonnier, F, Shoubridge, C, Antar, C, Nguyen, L S, Van Esch, H, Kleefstra, T, Briault, S, Fryns, J P, Hamel, B, Chelly, J, Ropers, H H, Ronce, N, Blesson, S, Moraine, C, Gécz, J, Raynaud, M

“…Mutations in the UPF3B gene, which encodes a protein involved in nonsense-mediated mRNA decay, have recently been described in four families with specific…”
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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate by Laumonnier, F, Holbert, S, Ronce, N, Faravelli, F, Lenzner, S, Schwartz, C E, Lespinasse, J, Van Esch, H, Lacombe, D, Goizet, C, Phan-Dinh Tuy, F, van Bokhoven, H, Fryns, J-P, Chelly, J, Ropers, H-H, Moraine, C, Hamel, B C J, Briault, S

“…Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR)…”
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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia by ZANNI, G, SAILLOUR, Y, RODRIGUEZ, D, DES PORTES, V, BELDJORD, C, CHELLY, J, NAGARA, M, BILLUART, P, CASTELNAU, L, MORAINE, C, FAIVRE, L, BERTINI, E, DURR, A, GUICHET, A

“…Mutations of oligophrenin 1, one of the first genes identified in nonspecific X-linked mental retardation (MRX), have been described in patients with moderate…”
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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH by Lugtenberg, D, de Brouwer, A P M, Kleefstra, T, Oudakker, A R, Frints, S G M, Schrander-Stumpel, C T R M, Fryns, J P, Jensen, L R, Chelly, J, Moraine, C, Turner, G, Veltman, J A, Hamel, B C J, de Vries, B B A, van Bokhoven, H, Yntema, H G

“…Several studies have shown that array based comparative genomic hybridisation (CGH) is a powerful tool for the detection of copy number changes in the genome…”
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Twenty‐five novel mutations including duplications in the ATP7A gene by Moizard, M‐P, Ronce, N, Blesson, S, Bieth, E, Burglen, L, Mignot, C, Mortemousque, I, Marmin, N, Dessay, B, Danesino, C, Feillet, F, Castelnau, P, Toutain, A, Moraine, C, Raynaud, M

“…Moizard M‐P, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C,…”
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Screening of ARX in mental retardation families : consequences for the strategy of molecular diagnosis by POIRIER, K, LACOMBE, D, CHELLY, J, BIENVENU, T, GILBERT-DUSSARDIER, B, RAYNAUD, M, DESPORTES, V, DE BROUWER, A. P. M, MORAINE, C, FRYNS, J. P, ROPERS, H. H, BEIDJORD, C

“…Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked…”
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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation by Kleefstra, T, Yntema, H G, Oudakker, A R, Banning, M J G, Kalscheuer, V M, Chelly, J, Moraine, C, Ropers, H-H, Fryns, J-P, Janssen, I M, Sistermans, E A, Nillesen, W N, de Vries, L B A, Hamel, B C J, van Bokhoven, H

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Twenty-five novel mutations including duplications in the ATP7A gene by Moizard, M-P, Ronce, N, Blesson, S, Bieth, E, Burglen, L, Mignot, C, Mortemousque, I, Marmin, N, Dessay, B, Danesino, C, Feillet, F, Castelnau, P, Toutain, A, Moraine, C, Raynaud, M

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X Chromosome-Linked Kallmann Syndrome: Stop Mutations Validate the Candidate Gene by Hardelin, Jean-Pierre, Levilliers, Jacqueline, del Castillo, Ignacio, Cohen-Salmon, Martine, Legouis, Renaud, Blanchard, Stephane, Compain, Sylvie, Bouloux, Pierre, Kirk, Jeremy, Moraine, Claude, Chaussain, Jean-Louis, Weissenbach, Jean, Petit, Christine

“…Kallmann syndrome represents the association of hypogonadotropic hypogonadism with anosmia. This syndrome is from a defect in the embryonic migratory pathway…”
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Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation by Bienvenu, T, Poirier, K, Van Esch, H, Hamel, B, Moraine, C, Fryns, J P, Ropers, H H, Beldjord, C, Yntema, H G, Chelly, J

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Agenesis of cruciate ligaments and menisci causing severe knee dysplasia in TAR syndrome by Héron, Delphine, Bonnard, Christian, Moraine, Claude, Toutain, Annick

“…E ditor -The syndrome of thrombocytopenia and absent radius (TAR syndrome) is an autosomal recessive condition characterised by congenital hypomegakaryocytic…”
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Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without α-thalassemia by VILLARD, L, TOUTAIN, A, LOSSI, A.-M, GECZ, J, HOUDAYER, C, MORAINE, C, FONTES, M

“…We have previously reported the isolation of a gene from Xq13 that codes for a putative regulator of transcription (XNP) and has now been shown to be the gene…”
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First description of germline mosaicism in familial hypertrophic cardiomyopathy by Forissier, Jean-François, Richard, Pascale, Briault, Sylvain, Ledeuil, Céline, Dubourg, Olivier, Charbonnier, Bernard, Carrier, Lucie, Moraine, Claude, Bonne, Gisèle, Komajda, Michel, Schwartz, Ketty, Hainque, Bernard

“…Familial hypertrophic cardiomyopathy is a genetically and phenotypically heterogeneous disease caused by mutations in seven sarcomeric protein genes. It is…”
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Anophthalmia and agenesis of optic chiasma associated with adapalene gel in early pregnancy by Autret, E, Berjot, M, Jonville-Béra, A P, Aubry, M C, Moraine, C

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Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancy by Gilardi, J. L., Perrotin, F., Paillet, C., Blesson, S., Cave, H., Briault, S., Moraine, C.

“…Objective A study was conducted to explain the mechanism of an unusual discrepancy between short‐ and long‐term culture examination methods of chorionic villus…”
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A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family by Ronce, Nathalie, Moizard, Marie-Pierre, Robb, Laura, Toutain, Annick, Villard, Laurent, Moraine, Claude

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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males by Van Esch, Hilde, Bauters, Marijke, Ignatius, Jaakko, Jansen, Mieke, Raynaud, Martine, Hollanders, Karen, Lugtenberg, Dorien, Bienvenu, Thierry, Jensen, Lars Riff, Gécz, Jozef, Moraine, Claude, Marynen, Peter, Fryns, Jean-Pierre, Froyen, Guy

“…Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental…”
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High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation by Guichet, A., Briault, S., Moraine, Cl

“…We report a cryptic translocation ascertained in a family after the birth of a mentally retarded proband. High resolution chromosome examination revealed that…”
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Déficiences mentales liées au chromosome X : un continuum des formes syndromiques aux formes non spécifiques by des Portes, V, Moraine, C

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