Genetics of Developmental Disabilities.

Por Vekemans, Michel 
Publicado em 2005

Cleft lip and palate: Aspects of reproductive biology

Por Vekemans, Michel J. J.
Publicado em 1988

Human Neural Tube Defects: Developmental Biology, Epidemiology, and Genetics

Por Detrait, Eric.R., George, Timothy. M., Etchevers, Heather.C., Gilbert, John.R., Vekemans, Michel., Speer, Marcy. C.
Publicado em 2005

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect, craniorachischisis

Por Robinson, Alexis, Escuin, Sarah, Doudney, Kit, Vekemans, Michel, Stevenson, Roger E, Greene, Nicholas DE, Copp, Andrew J, Stanier, Philip
Publicado no Hum Mutat (2011)

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

Por Golzio, Christelle, Havis, Emmanuelle, Daubas, Philippe, Nuel, Gregory, Babarit, Candice, Munnich, Arnold, Vekemans, Michel, Zaffran, Stéphane, Lyonnet, Stanislas, Etchevers, Heather C.
Publicado em 2012

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

Por Thomas, Sophie, Thomas, Marie, Wincker, Patrick, Babarit, Candice, Xu, Puting, Speer, Marcy C., Munnich, Arnold, Lyonnet, Stanislas, Vekemans, Michel, Etchevers, Heather C.
Publicado em 2008

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Por Rio, Marlène, Malan, Valérie, Boissel, Sarah, Toutain, Annick, Royer, Ghislaine, Gobin, Stéphanie, Morichon-Delvallez, Nicole, Turleau, Catherine, Bonnefont, Jean-Paul, Munnich, Arnold, Vekemans, Michel, Colleaux, Laurence
Publicado em 2010

Isolation by Size of Epithelial Tumor Cells : A New Method for the Immunomorphological and Molecular Characterization of Circulating Tumor Cells

Por Vona, Giovanna, Sabile, Abdelmajid, Louha, Malek, Sitruk, Veronique, Romana, Serge, Schütze, Karin, Capron, Frédérique, Franco, Dominique, Pazzagli, Mario, Vekemans, Michel, Lacour, Bernard, Bréchot, Christian, Paterlini-Bréchot, Patrizia
Publicado em 2000

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Por Malan, Valérie, Chevallier, Suzanne, Soler, Gwendoline, Coubes, Christine, Lacombe, Didier, Pasquier, Laurent, Soulier, Jean, Morichon-Delvallez, Nicole, Turleau, Catherine, Munnich, Arnold, Romana, Serge, Vekemans, Michel, Cormier-Daire, Valérie, Colleaux, Laurence
Publicado em 2010

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Por Molinari, Florence, Raas-Rothschild, Annick, Rio, Marlène, Fiermonte, Giuseppe, Encha-Razavi, Ferechté, Palmieri, Luigi, Palmieri, Ferdinando, Ben-Neriah, Ziva, Kadhom, Noman, Vekemans, Michel, Attié-Bitach, Tania, Munnich, Arnold, Rustin, Pierre, Colleaux, Laurence
Publicado em 2005

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Por Golzio, Christelle , Martinovic-Bouriel, Jelena , Thomas, Sophie , Mougou-Zrelli, Soumaya , Grattagliano-Bessières, Bettina , Bonnière, Maryse , Delahaye, Sophie , Munnich, Arnold , Encha-Razavi, Férechté , Lyonnet, Stanislas , Vekemans, Michel , Attié-Bitach, Tania , Etchevers, Heather C. 
Publicado em 2007

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

Por Delnatte, Capucine, Sanlaville, Damien, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, Blois, Marie-Christine de, Genevieve, David, Goulet, Olivier, Fryns, Jean-Pierre, Jaubert, Francis, Vekemans, Michel, Lyonnet, Stanislas, Romana, Serge, Eng, Charis, Stoppa-Lyonnet, Dominique
Publicado em 2006

Reply to Salviati et al.

Por Sanlaville, Damien, Delnatte, Capucine, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, de Blois, Marie-Christine, Genevieve, David, Goulet, Olivier, Fryns, Jean-Pierre, Jaubert, Francis, Vekemans, Michel, Lyonnet, Stanislas, Romana, Serge, Eng, Charis, Stoppa-Lyonnet, Dominique
Publicado em 2006

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

Por Thomas, Sophie, Cantagrel, Vincent, Mariani, Laura, Serre, Valérie, Lee, Ji-Eun, Elkhartoufi, Nadia, de Lonlay, Pascale, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Lyonnet, Stanislas, Vekemans, Michel, Lisgo, Steven N, Caspary, Tamara, Gleeson, Joseph, Attié-Bitach, Tania
Publicado no Eur J Hum Genet (2015)

Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

Por Amiel, Jeanne, Espinosa-Parrilla, Yolanda, Steffann, Julie, Gosset, Philippe, Pelet, Anna, Prieur, Marguerite, Boute, Odile, Choiset, Agnès, Lacombe, Didier, Philip, Nicole, Le Merrer, Martine, Tanaka, Hajime, Till, Marianne, Touraine, Renaud, Toutain, Annick, Vekemans, Michel, Munnich, Arnold, Lyonnet, Stanislas
Publicado em 2001

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Por Cognet, Marie, Nougayrede, Agnés, Malan, Valérie, Callier, Patrick, Cretolle, Celia, Faivre, Laurence, Genevieve, David, Goldenberg, Alice, Heron, Delphine, Mercier, Sandra, Philip, Nicole, Sigaudy, Sabine, Verloes, Alain, Sarnacki, Sabine, Munnich, Arnold, Vekemans, Michel, Lyonnet, Stanislas, Etchevers, Heather, Amiel, Jeanne, Pontual, Loïc de
Publicado em 2011

Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans

Por de Pontual, Loïc, Yao, Evelyn, Callier, Patrick, Faivre, Laurence, Drouin, Valérie, Cariou, Sandra, Van Haeringen, Arie, Geneviève, David, Goldenberg, Alice, Oufadem, Myriam, Manouvrier, Sylvie, Munnich, Arnold, Vidigal, Joana Alves, Vekemans, Michel, Lyonnet, Stanislas, Henrion-Caude, Alexandra, Ventura, Andrea, Amiel, Jeanne
Publicado em 2011

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

Por Malan, Valérie, Rajan, Diana, Thomas, Sophie, Shaw, Adam C., Louis dit Picard, Hélène, Layet, Valérie, Till, Marianne, van Haeringen, Arie, Mortier, Geert, Nampoothiri, Sheela, Pušeljić, Silvija, Legeai-Mallet, Laurence, Carter, Nigel P., Vekemans, Michel, Munnich, Arnold, Hennekam, Raoul C., Colleaux, Laurence, Cormier-Daire, Valérie
Publicado em 2010

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

Por Deak, Kristen L., Boyles, Abee L., Etchevers, Heather C., Melvin, Elizabeth C., Siegel, Deborah G., Graham, Felicia L., Slifer, Susan H., Enterline, David S., George, Timothy M., Vekemans, Michel, McClay, David, Bassuk, Alexander G., Kessler, John A., Linney, Elwood, Gilbert, John R., Speer, Marcy C.
Publicado em 2005

The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Por Baala, Lekbir, Romano, Stéphane, Khaddour, Rana, Saunier, Sophie, Smith, Ursula M., Audollent, Sophie, Ozilou, Catherine, Faivre, Laurence, Laurent, Nicole, Foliguet, Bernard, Munnich, Arnold, Lyonnet, Stanislas, Salomon, Rémi, Encha-Razavi, Férechté, Gubler, Marie-Claire, Boddaert, Nathalie, Lonlay, Pascale de, Johnson, Colin A., Vekemans, Michel, Antignac, Corinne, Attié-Bitach, Tania
Publicado em 2007