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

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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, 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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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, M. T, RODRIGUEZ-LAFRASSE, C, REVOL, A, LOUISOT, P, ROUSSON, R, MANDON, G, BOUE, J, CHOISET, A, PEYRAT, M.-F, DUMONTEL, C, JUGE, M.-C, PENTCHEV, P. G

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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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ALKALINE PHOSPHATASE ISOENZYME ASSAYS FOR PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS von Muller, Françoise, Berg, Sylvie, Frot, Jean-François, Boue, Joëlle, Boue, André

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La mortalité intra-utérine d'origine chromosomique von Leridon, Henri, Boué, Joëlle, Boue, Joelle

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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 of mucolipidosis type II on first-trimester amniotic fluid von Poenaru, Livia, Mezard, Christine, Akli, Said, Oury, Jean-François, Dumez, Yves, Boue, Joëlle

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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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Prenatal diagnosis of chronic granulomatous disease (CGD) in four high risk male fetuses von Huu, Trung Pham, Dumez, Yves, Marquetty, Claude, Durandy, Anne, Boue, Joëlle, Hakim, Jacques

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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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Evidence for the presence of beta-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique von Gautron, S, Poenaru, L, Boue, J, Puissant, H, Lisman, J J, Dreyfus, J C

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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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DNA polymorphism analysis in families with recurrence of free trisomy 21 von PANGALOS, C. G, CONOVER TALBOT, C. JR, BINKERT, F, BOUE, J, CORBIN, E, CROQUETTE, M. F, GILGENKRANTZ, S, DE GROUCHY, J, BERTHEAS, M. F, PRIEUR, M, RAOUL, O, SERVILLE, F, LEWIS, J. G, SIFFROI, J. P, THEPOT, F, LEJEUNE, J, ANTONARAKIS, S. E, ADELSBERGER, F. A, PETERSEN, M. B, SERRE, J.-L, RETHORE, M.-O, DE BLOIS, M.-C, PARENT, P, SCHINZEL, A. A

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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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Carrier detection and prenatal diagnosis of cystic fibrosis using and intragenic TA-repeat polymorphism von MORNET, E, CHATEAU, C, SIMON-BOUY, B, BOUE, J, ZIELENSKI, J, LAP CHEE TSUI, BOUE, A

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