ProfileOfResearchers

TITLE: ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
AUTHORS: Lucas Fares Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton Smith; Sylvain Hanein; Eduardo Silva ; Margaux Serey; Valerie Serre; Xavier Gerard; Clarisse Baumann; Ghislaine Plessis; Benedicte Demeer; Lionel Bretillon; Christine Bole; Patrick Nitschke; Arnold Munnich; Stanislas Lyonnet; Patrick Calvas; Josseline Kaplan; Nicola Ragge; Jean Michel Rozet; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 2

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TITLE: Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
AUTHORS: van de Kamp, JM; Betsalel, OT; Mercimek Mahmutoglu, S; Abulhoul, L; Gruenewald, S; Anselm, I; Azzouz, H; Bratkovic, D; de Brouwer, A; Hamel, B; Kleefstra, T; Yntema, H; Campistol, J; Vilaseca, MA; Cheillan, D; D'Hooghe, M; Diogo, L; Garcia, P; Valongo, C; Fonseca, M; Frints, S; Wilcken, B; von der Haar, S; Meijers Heijboer, HE; Hofstede, F; Johnson, D; Kant, SG; Lion Francois, L; Pitelet, G; Longo, N; Maat Kievit, JA; Monteiro, JP; Munnich, A; Muntau, AC; Nassogne, MC; Osaka, H; Ounap, K; Pinard, JM; Quijano Roy, S; Poggenburg, I; Poplawski, N; Abdul Rahman, O; Ribes, A; Arias, A; Yaplito Lee, J; Schulze, A; Schwartz, CE; Schwenger, S; Soares, G; Sznajer, Y; Valayannopoulos, V; Van Esch, H; Waltz, S; Wamelink, MMC; Pouwels, PJW; Errami, A; van der Knaap, MS; Jakobs, C; Mancini, GM; Salomons, GS; ...More
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 7

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TITLE: Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy Full Text
AUTHORS: Isabelle Perrault; Sylvain Hanein; Xavier Zanlonghi; Valerie Serre; Michael Nicouleau; Sabine Defoort Delhemmes; Nathalie Delphin; Lucas Fares Taie; Sylvie Gerber; Olivia Xerri; Catherine Edelson; Alice Goldenberg; Alice Duncombe; Gylene Le Meur; Christian Hamel; Eduardo Silva ; Patrick Nitschke; Patrick Calvas; Arnold Munnich; Olivier Roche; Helene Dollfus; Josseline Kaplan; Jean Michel Rozet; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 9

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TITLE: Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
AUTHORS: Isabelle Perrault; Sophie Saunier; Sylvain Hanein; Emilie Filhol; Albane A Bizet; Felicity Collins; Mustafa A M Salih; Sylvie Gerber; Nathalie Delphin; Karine Bigot; Christophe Orssaud; Eduardo Silva; Veronique Baudouin; Machteld M Oud; Nora Shannon; Martine Le Merrer; Olivier Roche; Christine Pietrement; Jamal Goumid; Clarisse Baumann; Christine Bole Feysot; Patrick Nitschke; Mohammed Zahrate; Philip Beales; Heleen H Arts; Arnold Munnich; Josseline Kaplan; Corinne Antignac; Valerie Cormier Daire; Jean Michel Rozet; ...More
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 90, ISSUE: 5

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TITLE: A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
AUTHORS: Molin, AM; Andrieux, J; Koolen, DA; Malan, V; Carella, M; Colleaux, L; Cormier Daire, V; David, A; de Leeuw, N; Delobel, B; Duban Bedu, B; Fischetto, R; Flinter, F; Kjaergaard, S; Kok, F; Krepischi, AC; Le Caignec, C; Mackie M Ogilvie; Maia, S; Mathieu Dramard, M; Munnich, A; Palumbo, O; Papadia, F; Pfundt, R; Reardon, W; Receveur, A; Rio, M; Ronsbro R Darling; Rosenberg, C; Sa, J; Vallee, L; Vincent Delorme, C; Zelante, L; Bondeson, ML; Anneren, G; ...More
PUBLISHED: 2012, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 49, ISSUE: 2

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