Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation von Rousseau, François, Heitz, Dominique, Biancalana, Valérie, Blumenfeld, Sandra, Kretz, Christine, Boué, Joëlle, Tommerup, Niels, Hagen, Carl Van Der, DeLozier-Blanchet, Célia, Croquette, Marie-Françoise, Gilgenkrantz, Simone, Jalbert, Pierre, Voelckel, Marie-Antoinette, Oberlé, Isabelle, Mandel, Jean-Louis

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Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. 1975 von Boué, Joëlle, Boué, André, Lazar, Philippe

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Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions von BOUE, Joëlle, BOUE, André, LAZAR, Philippe

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Pelizaeus-Merzbacher Disease: A Valine to Phenylalanine Point Mutation in a Putative Extracellular Loop of Myelin Proteolipid von PHAM-DINH, D, POPOT, J.-L, BOESPFLUG-TANGUY, O, LANDRIEU, P, DELEUZE, J.-F, BOUE, J, JOLLES, P, DAUTIGNY, A

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PRENATAL-DIAGNOSIS OF NIEMANN-PICK TYPE-C DISEASE - CURRENT STRATEGY FROM AN EXPERIENCE OF 37 PREGNANCIES AT RISK von VANIER, MT, RODRIGUEZLAFRASSE, C, ROUSSON, R, MANDON, G, BOUE, J, CHOISET, A, FRANCEPEYRAT, M, DUMONTEL, C, JUGE, MC, PENTCHEV, PG, REVOL, A, LOUISOT, P

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Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency von Barbat, Benoit, Bogyo, Any, Raux-Demay, Marie-Charles, Kuttenn, Frédéarique, Boué, Joelle, Simon-Bouy, Brigitte, Serre, Jean-Louis, Boué, André, Mornet, Etienne

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First-trimester diagnosis of hypophosphatasia. Importance of gestational age and of purity of CV samples von Muller, F., Ouryß, J. F., Bussière, P., Lewin, F., Boué, Joëlle

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Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions von Boué, Joëlle, Boué, André, Lazar, Philippe

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Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis von BOUE, A, MULLER, F, NEZELOF, C, OURY, J. F, DUMEZ, Y, AUBRY, M. C, BOUE, J

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Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation von Bienvenu, Thierry, des Portes, Vincent, McDonell, Nathalie, Carrié, Alain, Zemni, Ramzi, Couvert, Philippe, Ropers, Hilger H., Moraine, Claude, van Bokhoven, Hans, Fryns, Jean Pierre, Allen, Kristina, Walsh, Christopher A., Boué, Joelle, Kahn, Axel, Chelly, Jamel, Beldjord, Cherif

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Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency von MORNET, E, CRETE, P, KUTTENN, F, RAUX-DEMAY, M.-C, BOUE, J, WHITE, P. C, BOUE, A

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Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation von ROUSSEAU, FRANÇOIS, HEITZ, DOMINIQUE, BIANCALANA, VALÉRIE, BLUMENFELD, SANDRA, KRETZ, CHRISTINE, BOUÉ, JOELLE, TOMMERUP, NIELS, DER HAGEN, CARL VAN, DELOZIER-BLANCHET, CÉLIA, CROQUETTE, MARIE FRANÇOISE, GILGENKRANTZ, SIMON, JALBERT, PIERRE, VOELCKEL, MARIE-ANTOINETTE, OBERLE, ISABELLE, MANDEL, JEAN-LOUIS

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Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II von HÜHN, R, STOERMER, H, SCHERER, G, KLINGELE, B, BAUSCH, E, FOIS, A, FARNETANI, M, DI ROCCO, M, BOUE, J, KIRK, J. M, COLEMAN, R

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First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe von BOUE, J, OBERLE, I, HEILIG, R, MANDEL, J. L, MOSER, A, MOSER, H, LARSEN, J. W. JR, DUMEZ, Y, BOUE, A

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GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS von Simon-Bouy, Brigitte, Serre, Jean-Louis, Mornet, Etienne, Tallandier, Agnès, Boué, Joëlle, Boué, André

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Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia von AUERBACH, A. D, ZHANG MIN, GHOSH, R, PERGAMENT, E, VERLINSKY, Y, NICOLAS, H, BOUE, J

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A gene for dominant nonspecific X-linked mental retardation is located in Xq28 von DES PORTES, V, BILLUART, P, CHELLY, J, CARRIE, A, BACHNER, L, BIENVENU, T, VINET, M. C, BELDJORD, C, PONSOT, G, KAHN, A, BOUE, J

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Human triploidy: Association with partial hydatidiform moles and nonmolar conceptuses von Szulman, Aron E., Philippe, Emile, Boué, Joelle G., Boué, Andre

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Amniotic fluid GGT and congenital extrahepatic biliary damage von Muller, Françoise, Gauthier, Frédéric, Laurent, Jocelyne, Schmitt, Michel, Boué, Joelle

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Prenatal Diagnosis in 200 Pregnancies with a 1-in-4 Risk of Cystic Fibrosis von BOUÉ, A, MULLER, FRANÇOISE, NEZELOF, C, OURY, J F, DUCHATEL, F, DUMEZ, Y, AUBRY, M C, BOUÉ, JOËLLE

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