Genetics of Developmental Disabilities.

по Vekemans, Michel 
Опубликовано 2005

Cleft lip and palate: Aspects of reproductive biology

по Vekemans, Michel J. J.
Опубликовано 1988

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

по Detrait, Eric.R., George, Timothy. M., Etchevers, Heather.C., Gilbert, John.R., Vekemans, Michel., Speer, Marcy. C.
Опубликовано 2005

Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome

по Seror, Valerie, L’Haridon, Olivier, Bussières, Laurence, Malan, Valérie, Fries, Nicolas, Vekemans, Michel, Salomon, Laurent J., Ville, Yves
Опубликовано в: JAMA Netw Open (2019)

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

по Robinson, Alexis, Escuin, Sarah, Doudney, Kit, Vekemans, Michel, Stevenson, Roger E, Greene, Nicholas DE, Copp, Andrew J, Stanier, Philip
Опубликовано в: Hum Mutat (2011)

ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation

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

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

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

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

по 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
Опубликовано 2010

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

по 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
Опубликовано 2000

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

по Egloff, Matthieu, Nguyen, Lam-Son, Siquier-Pernet, Karine, Cormier-Daire, Valérie, Baujat, Geneviève, Attié-Bitach, Tania, Bole-Feysot, Christine, Nitschke, Patrick, Vekemans, Michel, Colleaux, Laurence, Malan, Valérie
Опубликовано в: Eur J Hum Genet (2018)

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

по 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
Опубликовано 2010

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

по 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
Опубликовано 2005

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

по 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. 
Опубликовано 2007

A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus

по Beaufrère, Aurélie, Bessières, Bettina, Bonnière, Maryse, Driessen, Marine, Alfano, Christian, Couderc, Thérèse, Thiry, Marc, Thelen, Nicolas, Lecuit, Marc, Attié‐Bitach, Tania, Vekemans, Michel, Ville, Yves, Nguyen, Laurent, Leruez‐Ville, Marianne, Encha‐Razavi, Férechté
Опубликовано в: Brain Pathol (2018)

Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial

по Malan, Valérie, Bussières, Laurence, Winer, Norbert, Jais, Jean-Philippe, Baptiste, Amandine, Le Lorc’h, Marc, Elie, Caroline, O’Gorman, Neil, Fries, Nicolas, Houfflin-Debarge, Véronique, Sentilhes, Loic, Vekemans, Michel, Ville, Yves, Salomon, Laurent J.
Опубликовано в: JAMA (2018)

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

по 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
Опубликовано 2006

Reply to Salviati et al.

по 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
Опубликовано 2006

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

по 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
Опубликовано в: Eur J Hum Genet (2015)

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

по 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
Опубликовано 2001

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

по 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
Опубликовано 2011