Ursodeoxycholic acid therapy in intrahepatic cholestasis of pregnancy: Results in real-world conditions and factors predictive of response to treatment

Autor: Bacq, Yannick, le Besco, Matthieu, Lecuyer, Anne-Isabelle, Gendrot, Chantal, Potin, Jérôme, Andres, Christian R., Aubourg, Alexandre

Publikováno v: In Digestive and Liver Disease January 2017 49(1):63-69

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Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinical and molecular data in one family

Autor: Ronce, Nathalie, Raynaud, Martine, Toutain, Annick, Moizard, Marie-Pierre, Colleaux, C, Gendrot, Chantal, Briault, Sylvain, Moraine, Claude, Colleaux, Laurence

Publikováno v: American Journal of Medical Genetics
American Journal of Medical Genetics, Wiley, 1999, 83 (2), pp.132-137. ⟨10.1002/(SICI)1096-8628(19990312)83:23.0.CO;2-Y⟩

International audience; Linkage analysis was performed in three generations of a French family segregating a syndromal form of X-linked mental retardation. All affected males had neonatal hypotonia, seizures, muscular hypodevelopment, and severe ment

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::df12db7c10b6530ee74c029cd6f61959
https://hal.archives-ouvertes.fr/hal-02128843

MECP2 is highly mutated in X-linked mental retardation.

Autor: Couvert, Philippe, Bienvenu, Thierry, Aquaviva, Cecile, Poirier, Karine, Moraine, Claude, Gendrot, Chantal, Verloes, Alain, Andrès, Christian, Le Fevre, Anne Celine, Souville, Isabelle, Steffann, Julie, des Portes, Vincent, Ropers, Hans-Hilger, Yntema, Helger G., Fryns, Jean-Pierre, Briault, Sylvain, Chelly, Jamel, Cherif, Beldjord

Publikováno v: Human Molecular Genetics; Apr2001, Vol. 10 Issue 9, p941-946, 6p, 1 Diagram, 1 Chart

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