Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
Cormier-Daire, Valérie, Chauvet, Marie-Liesse, Lyonnet, Stanislas, Briard, Marie-Louise, Munnich, Arnold, Le Merrer, Martine
Published in Journal of medical genetics (01.07.2000)
Published in Journal of medical genetics (01.07.2000)
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A gene for Stargardt's disease ( fundus flavimaculatus ) maps to the short arm of chromosome 1
Dollfus, Hélène, Briard, Marie-Louise, Munnich, Arnold, Gerber, Sylvie, Frézal, Jean, Rozet, Jean-Michel, Janin, Nicolas, Postel-Vinay, Anne, Kaplan, Josseline, Larget-Piet, Dominique, Dufier, Jean-Louis, Odent, Sylvie
Published in Nature genetics (01.11.1993)
Published in Nature genetics (01.11.1993)
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Nance-Horan syndrome : linkage analysis in 4 families refines localization in XP22.31-p22.13 region
TOUTAIN, A, RONCE, N, DESSAY, B, ROBB, L, FRANCANNET, C, LE MERRER, M, BRIARD, M.-L, KAPLAN, J, MORAINE, C
Published in Human genetics (01.02.1997)
Published in Human genetics (01.02.1997)
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Subtle Health Impairment and Socioeducational Attainment in Young Adult Patients with Congenital Hypothyroidism Diagnosed by Neonatal Screening: A Longitudinal Population-Based Cohort Study
Léger, Juliane, Ecosse, Emmanuel, Roussey, Michel, Lanoë, Jean Louis, Larroque, Béatrice, the French Congenital Hypothyroidism Study Group
Published in The journal of clinical endocrinology and metabolism (01.06.2011)
Published in The journal of clinical endocrinology and metabolism (01.06.2011)
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A new lethal syndrome of exomphalos, short limbs, and macrogonadism
Faivre, Laurence, Delezoide, Anne-Lise, Narcy, Françoise, Razavi, Féréchté, Bouvier, Raymonde, Cormier-Daire, Valérie, Briard, Marie-Louise, Lyonnet, Stanislas, Vekemans, Michel, Munnich, Arnold, Le Merrer, Martine
Published in Journal of medical genetics (01.02.1999)
Published in Journal of medical genetics (01.02.1999)
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A gene for Leber's congenital amaurosis maps to chromosome 17p
Camuzat, A, Dollfus, H, Rozet, J M, Gerber, S, Bonneau, D, Bonnemaison, M, Briard, M L, Dufier, J L, Ghazi, I, Leowski, C
Published in Human molecular genetics (01.08.1995)
Published in Human molecular genetics (01.08.1995)
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BBBG syndrome or Opitz syndrome: new family
Verloes, A, Le Merrer, M, Briard, M L
Published in American journal of medical genetics (01.11.1989)
Published in American journal of medical genetics (01.11.1989)
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The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52
Lyonnet, Stanislas, Pelet, Anna, Royer, Ghislaine, Delrieu, Olivier, Serville, Françoise, Le Marec, Bernard, Gruensteudel, Anita, Pfeiffer, Rudolf A., Briard, Marie-Louise, Dubay, Christopher, Hors-Cayla, Marie-Claude, Merrer, Martine le, Munnich, Arnold
Published in Genomics (San Diego, Calif.) (01.10.1992)
Published in Genomics (San Diego, Calif.) (01.10.1992)
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Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus
Berthelon, M, Caillaud, C, Rey, F, Labrune, P, Melle, D, Feingold, J, Frézal, J, Briard, M L, Farriaux, J P, Guibaud, P
Published in Human genetics (01.02.1991)
Published in Human genetics (01.02.1991)
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Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal
Caillaud, C, Vilarinho, L, Vilarinho, A, Rey, F, Berthelon, M, Santos, R, Lyonnet, S, Briard, M L, Osorio, R V, Rey, J
Published in Human genetics (01.04.1992)
Published in Human genetics (01.04.1992)
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Consanguinity in Multifactorial Inheritance
Bonaïti, Catherine, Demenais, Florence, Briard, Marie-Louise, Feingold, Josué
Published in Human heredity (28.08.2008)
Published in Human heredity (28.08.2008)
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Ethical aspects of neonatal screening for sickle cell disease in Western European countries
De Montalembert, Mariane, Bonnet, Doris, Lena-Russo, Danielle, Louise Briard, Marie
Published in Acta Paediatrica (01.05.2005)
Published in Acta Paediatrica (01.05.2005)
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Neonatal myasthenia gravis: Anti-acetylcholine receptor antibodies in the amniotic fluid
Morel, Evelyne, Bach, Jean-François, Briard, Marie-Louise, Aubry, Jean-Pierre
Published in Journal of neuroimmunology (01.01.1984)
Published in Journal of neuroimmunology (01.01.1984)
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Congenital glaucoma: genetic models
Demenais, F, Bonaïti, C, Briard, M L, Feingold, J, Frézal, J
Published in Human genetics (15.02.1979)
Published in Human genetics (15.02.1979)
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