Sylvie Manouvrier‐Hanu

CARD15 mutations in Blau syndrome

Corinne Miceli‐Richard, Suzanne Lesage, M. Rybojad et al. · Nature Genetics · 2001 · 960 citations

Mendelian Disorder, Ophthalmology, Genetic Disorder +5

<i>MEF2C</i> haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard et al. · Journal of Medical Genetics · 2009 · 220 citations · Full text

<i>EFTUD2</i> haploinsufficiency leads to syndromic oesophageal atresia

Christopher T. Gordon, Florence Petit, Myriam Oufadem et al. · Journal of Medical Genetics · 2012 · 96 citations

Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature

Sylvie Manouvrier‐Hanu, Bernard Puech, Fanny Piette et al. · American Journal of Medical Genetics · 1998 · 89 citations

Ocular Disease, Vasculitis, Skin Rash +21

Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: Study of a family

Luís A. Moreno, Frédèric Gottrand, Dominique Turck et al. · American Journal of Medical Genetics · 1990 · 73 citations

Primary Immunodeficiency, Autoimmune Disease, Allergy +13