Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations von Denier, C., Goutagny, S., Labauge, P., Krivosic, V., Arnoult, M, Cousin, A., Benabid, A.L., Comoy, J., Frerebeau, P., Gilbert, B., Houtteville, J.P., Jan, M., Lapierre, F., Loiseau, H., Menei, P., Mercier, P., Moreau, J.J., Nivelon-Chevallier, A., Parker, F., Redondo, A.M., Scarabin, J.M., Tremoulet, M., Zerah, M., Maciazek, J., Tournier-Lasserve, E.

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A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q von VIDAILHET, M, TASSIN, J, DURIF, F, NIVELON-CHEVALLIER, A, AGID, Y, BRICE, A, DÜRR, A

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Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes von David, Albert, Bitoun, Pierre, Lacombe, Didier, Lambert, Jean-Claude, Nivelon, Annie, Vigneron, Jacqueline, Verloes, Alain

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome von Marzella, Rosalia, Uda, Manuela, Rocchi, Mariano, Loi, Angela, Bonneau, Dominique, Cao, Antonio, Chiappe, Francesca, Gasparini, Paolo, Crisponi, Laura, Deiana, Manila, Schlessinger, David, Porcu, Susanna, Pilia, Giuseppe, Nicolino, Marc, Bisceglia, Luigi, Amati, Patrizia, Zelante, Leopoldo, Nagaraja, Ramaiah, Serafina Ristaldi, M, Lienhardt-Roussie, Anne, Nivelon, Annie, Verloes, Alain

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Infantile systemic hyalinosis: a case with atypical prolonged survival von Thauvin-Robinet, C, Faivre, L, Beer, F, Justrabo, E, Nivelon-Chevallier, A, Huet, F

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Familial thoracic aortic aneurysm dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity von Khau Van Kien, Philippe, Wolf, Jean-Eric, Mathieu, Flavie, Zhu, Limin, Salve, Nicolas, Lalande, Alain, Bonnet, Caroline, Lesca, Gaëtan, Plauchu, Henri, Dellinger, Arnaud, Nivelon-Chevallier, Annie, Brunotte, François, Jeunemaitre, Xavier

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Exposure to hydroxyurea during pregnancy: a case series von Thauvin-Robinet, C, Maingueneau, C, Robert, E, Elefant, E, Guy, H, Caillot, D, Casasnovas, R O, Douvier, S, Nivelon-Chevallier, A

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Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins von RICHARD, I, BRENGUIER, L, KURNIT, D. M, LEFRANC, G, LEGUM, C, LOISELET, J, MERLINI, L, NIVELON-CHEVALLIER, A, OLLAGNON-ROMAN, E, RESTAGNO, G, TOPALOGLU, H, BECKMANN, J. S, DINCER, P, ROUDAUT, C, BADY, B, BURGUNDER, J.-M, CHEMALY, R, GARCIA, C. A, HALABY, G, JACKSON, C. E

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Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes von Cossée, Mireille, Dürr, Alexandra, Schmitt, Michèle, Dahl, Niklas, Trouillas, Paul, Allinson, Patricia, Kostrzewa, Markus, Nivelon-Chevallier, Annie, Gustavson, Karl-Henrik, Kohlschütter, Alfried, Müller, Ulrich, Mandel, Jean-Louis, Brice, Alexis, Koenig, Michel, Cavalcanti, Francesca, Tammaro, Angela, De Michele, Giuseppe, Filla, Alessandro, Cocozza, Sergio, Labuda, Malgorzata, Montermini, Laura, Poirier, Josée, Pandolfo, Massimo

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Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13 von Gedde-Dahl, Tobias, Mégarbané, André, Sobel, Eric, Meier, Muriel, Lathrop, Mark, Capeau, Jacqueline, Papp, Jeanette, Khallouf, Eliane, Van Maldergem, Lionel, Magré, Jocelyne, Delépine, Marc

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Genetic testing in asymptomatic minors: a survey among French geneticists von Joly, L, Thauvin-Robinet, C, Huet, F, Pinoit, J-M, Contrain, A, Cassini, C, Coron, F, Gautier, E, Bonin, B, Gargiulo, M, Heron, D, Dürr, A, Faivre, L

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Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations von Cavé-Riant, Florence, Denier, Christian, Labauge, Pierre, Cécillon, Michaelle, Maciazek, Jacqueline, Joutel, Anne, Laberge-Le Couteulx, Sophie, Tournier-Lasserve, Elisabeth

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Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes von Cormier-Daire, V, Wolf, C, Munnich, A, Le Merrer, M, Nivelon, A, Bonneau, D, Journel, H, Fellmann, F, Chevy, F, Roux, C

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Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain von Touraine, Renaud L., Attié-Bitach, Tania, Manceau, Eric, Korsch, Eckhard, Sarda, Pierre, Pingault, Véronique, Encha-Razavi, Féréchté, Pelet, Anna, Augé, Joelle, Nivelon-Chevallier, Annie, Holschneider, Alexander Mathias, Munnes, Marc, Doerfler, Walter, Goossens, Michel, Munnich, Arnold, Vekemans, Michel, Lyonnet, Stanislas

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New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome von Nivelon, A, Nivelon, J L, Mabille, J P, Maroteaux, P, Feldman, J P, Douvier, S, Aymé, S

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Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome von Faivre, L., Nivelon-Chevallier, A., Kottler, M.L., Robinet, C., Van Kien, P. Khau, Lorcerie, B., Munnich, A., Maroteaux, P., Cormier-Daire, V., LeMerrer, M.

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Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a charcot- marie-tooth presentation von SAID, Gérard, LACROIX, Catherine, RIGAUD, Daniel, GUIOCHON-MANTEL, Anne, MATUCHANSKY, Claude, PLANTE-BORDENEUVE, Violaine, MESSING, Bernard, SLAMA, Abdelhamid, CRENN, Pascal, NIVELON-CHEVALLIER, Annie, BEDENNE, Laurent, SOICHOT, Pierre, MANCEAU, E

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A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for... von Vincent, Christophe, Kalatzis, Vasiliki, Compain, Sylvie, Levilliers, Jacqueline, Slim, Rima, Graia, Fatima, Pereira, Maria de Lurdes, Nivelon, Annie, Croquette, Marie-France, Lacombe, Didier, Vigneron, Jacqueline, Helias, Jocelyne, Broyer, Michel, Callen, David F., Haan, Eric A., Weissenbach, Jean, Lacroix, Bruno, Bellané-Chantelot, Christine, Paslier, Denis Le, Cohen, Daniel, Petit, Christine

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De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly von Bruyere, H, Favre, B, Douvier, S, Nivelon-Chevalier, A, Mugneret, F

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LETTER TO THE EDITOR. DE NOVO INTERSTITIAL PROXIMAL DELETION OF 14q AND PRENATAL DIAGNOSIS OF HOLOPROSENCEPHALY von BRUYERE, H., FAVRE, B., DOUVIER, S., NIVELON-CHEVALIER, A., MUGNERET, F.

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