M
Michel Vekemans
Researcher at University of Paris
Publications - 29
Citations - 3022
Michel Vekemans is an academic researcher from University of Paris. The author has contributed to research in topics: Meckel syndrome & Candidate gene. The author has an hindex of 19, co-authored 29 publications receiving 2842 citations. Previous affiliations of Michel Vekemans include French Institute of Health and Medical Research & Necker-Enfants Malades Hospital.
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Journal ArticleDOI
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Marion Delous,Lekbir Baala,Rémi Salomon,Christine Laclef,Christine Laclef,Jeanette Vierkotten,Kálmán Tory,Christelle Golzio,Tiphanie Lacoste,Laurianne Besse,Laurianne Besse,Catherine Ozilou,Imane Moutkine,Nathan E. Hellman,Isabelle Anselme,Isabelle Anselme,Flora Silbermann,Christine Vesque,Christine Vesque,Christoph Gerhardt,Eleanor Rattenberry,Matthias T.F. Wolf,Marie Claire Gubler,Jelena Martinovic,Férechté Encha-Razavi,Nathalie Boddaert,Marie Gonzales,Marie Alice Macher,Hubert Nivet,Gérard Champion,Jean Pierre Berthélémé,Patrick Niaudet,Fiona McDonald,Friedhelm Hildebrandt,Colin A. Johnson,Michel Vekemans,Corinne Antignac,Ulrich Rüther,Sylvie Schneider-Maunoury,Sylvie Schneider-Maunoury,Tania Attié-Bitach,Sophie Saunier +41 more
TL;DR: Findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder.
Journal ArticleDOI
Human neural tube defects: Developmental biology, epidemiology, and genetics
Eric Detrait,Timothy M. George,Heather C. Etchevers,John R. Gilbert,Michel Vekemans,Marcy C. Speer +5 more
TL;DR: The evidence for genetic etiology and for environmental influences are reviewed, and current views on the developmental processes involved in human neural tube closure are presented.
Journal ArticleDOI
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
V Belin,V Cusin,Géraldine Viot,D Girlich,Annick Toutain,Anne Moncla,Michel Vekemans,M. Le Merrer,Arnold Munnich,Valérie Cormier-Daire +9 more
TL;DR: Large-scale deletions and a nonsense mutation in the short stature homeobox-containing gene7,8 (SHOX) are reported and it is shown that Langer mesomelic dwarfism9 results from homozygous mutations at the DCS locus.
Journal ArticleDOI
Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome
Lekbir Baala,Sophie Audollent,Jelena Martinovic,Catherine Ozilou,Marie-Claude Babron,Sivanthiny Sivanandamoorthy,Sophie Saunier,Rémi Salomon,Marie Gonzales,Eleanor Rattenberry,Chantal Esculpavit,Annick Toutain,Claude Moraine,Philippe Parent,Pascale Marcorelles,Marie-Christine Dauge,Joelle Roume,Martine Le Merrer,Vardiella Meiner,Karen Meir,Françoise Menez,Anne-Marie Beaufrère,Christine Francannet,Julia Tantau,Martine Sinico,Yves Dumez,Fiona Macdonald,Arnold Munnich,Stanislas Lyonnet,Marie-Claire Gubler,Emmanuelle Génin,Colin A. Johnson,Michel Vekemans,Férechté Encha-Razavi,Tania Attié-Bitach +34 more
TL;DR: In this article, a genomewide linkage scan was performed using 10-cM-resolution microsatellite markers in eight families to identify new Meckel syndrome (MKS) loci.
Journal ArticleDOI
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Enza Maria Valente,Clare V. Logan,Soumaya Mougou-Zerelli,Jeong Ho Lee,Jennifer L. Silhavy,Francesco Brancati,Francesco Brancati,Miriam Iannicelli,Lorena Travaglini,Sveva Romani,Barbara Illi,Matthew Adams,Katarzyna Szymanska,Annalisa Mazzotta,Ji Eun Lee,Jerlyn C Tolentino,Dominika Swistun,Carmelo Salpietro,Carmelo Fede,Stacey Gabriel,Carsten Russ,Kristian Cibulskis,Carrie Sougnez,Friedhelm Hildebrandt,Edgar A. Otto,Susanne Held,Bill H. Diplas,Erica E. Davis,Mario Mikula,Charles M. Strom,Bruria Ben-Zeev,Dorit Lev,Tally Lerman Sagie,Marina Michelson,Yuval Yaron,Amanda Krause,Eugen Boltshauser,Nadia Elkhartoufi,Joelle Roume,Stavit A. Shalev,Arnold Munnich,Sophie Saunier,Chris F. Inglehearn,Ali Saad,Adila Al-Kindy,Adila Al-Kindy,Sophie Thomas,Michel Vekemans,Bruno Dallapiccola,Nicholas Katsanis,Colin A. Johnson,Tania Attié-Bitach,Joseph G. Gleeson +52 more
TL;DR: It is reported that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein.