Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency

Por Oldani, Elena, Garel, Catherine, Bucourt, Martine, Carbillon, Lionel
Publicado no Am J Case Rep (2015)

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

Por Dupont, Celine, Bucourt, Martine, Guimiot, Fabien, Kraoua, Lilia, Smiljkovski, Daniel, Le Tessier, Dominique, Lebugle, Camille, Gerard, Benedicte, Spaggiari, Emmanuel, Bourdoncle, Pierre, Tabet, Anne-Claude, Benzacken, Brigitte, Dupont, Jean-Michel
Publicado em 2014

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita

Por Xue, Shifeng, Maluenda, Jérôme, Marguet, Florent, Shboul, Mohammad, Quevarec, Loïc, Bonnard, Carine, Ng, Alvin Yu Jin, Tohari, Sumanty, Tan, Thong Teck, Kong, Mung Kei, Monaghan, Kristin G., Cho, Megan T., Siskind, Carly E., Sampson, Jacinda B., Rocha, Carolina Tesi, Alkazaleh, Fawaz, Gonzales, Marie, Rigonnot, Luc, Whalen, Sandra, Gut, Marta, Gut, Ivo, Bucourt, Martine, Venkatesh, Byrappa, Laquerrière, Annie, Reversade, Bruno, Melki, Judith
Publicado no Am J Hum Genet (2017)