1
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
INDEXED IN: Scopus WOS
2
TITLE: Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
AUTHORS: Celine Huber; Eissa Ali Faqeih; Deborah Bartholdi; Christine Bole Feysot; Zvi Borochowitz; Denise P Cavalcanti; Amandine Frigo; Patrick Nitschke; Joelle Roume; Heloisa G Santos; Stavit A Shalev; Andrea Superti Furga; Anne Lise Delezoide; Martine Le Merrer; Arnold Munnich; Valerie Cormier Daire;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
3
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
INDEXED IN: Scopus WOS CrossRef: 41
4
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
INDEXED IN: Scopus WOS CrossRef: 64
5
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
INDEXED IN: Scopus WOS CrossRef: 81
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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
INDEXED IN: Scopus WOS CrossRef
7
TITLE: Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
AUTHORS: Slimane Allali; Carine Le Goff; Isabelle Pressac Diebold; Gwendoline Pfennig; Clementine Mahaut; Nathalie Dagoneau; Yasemin Alanay; Angela F Brady; Yanick J Crow; Koen Devriendt; Valerie Drouin Garraud; Elisabeth Flori; David Genevieve; Raoul C Hennekam; Jane Hurst; Deborah Krakow; Martine Le Merrer; Klaske D Lichtenbelt; Sally A Lynch; Stanislas Lyonnet; Kay MacDermot; Sahar Mansour; Andre Megarbane; Heloisa G Santos; Miranda Splitt; Andrea Superti Furga; Sheila Unger; Denise Williams; Arnold Munnich; Valerie Cormier Daire; ...More
PUBLISHED: 2011, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 48, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: Expanding the Skeletal Phenotype of Loeys-Dietz Syndrome  Full Text
AUTHORS: Sergio B Sousa; Karen Lambot Juhan; Marlene Rio; Genevieve Baujat; Vicken Topouchian; Nadine Hanna; Martine Le Merrer; Francis Brunelle; Arnold Munnich; Catherine Boileau; Valerie Cormier Daire;
PUBLISHED: 2011, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 155A, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 10
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TITLE: Postnatal Growth Retardation, Facial Dysmorphism, Spondylocarpal Synostosis, Cardiac Defect, and Inner Ear Malformation (Cardiospondylocarpofacial Syndrome?)-A Distinct Syndrome?  Full Text
AUTHORS: Sergio B Sousa; Genevieve Baujat; Veronique Abadie; Damien Bonnet; Daniel Sidi; Arnold Munnich; Deborah Krakow; Valerie Cormier Daire;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 152A, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 3
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TITLE: Homozygous mutation of the PHOX2B gene in congenital central Hypoventilation syndrome (Ondine's curse)  Full Text
AUTHORS: Delphine Trochet; Loic de Pontual; Maria Helena Estevo; Yves Mathieu; Arnold Munnich; Feingold, J; Christo Goridis; Stanislas Lyonnet; Jeanne Amiel;
PUBLISHED: 2008, SOURCE: HUMAN MUTATION, VOLUME: 29, ISSUE: 5
INDEXED IN: WOS CrossRef
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