American Journal of Human Genetics 2007 Andre Reis - Abstracts
| American Journal of Human Genetics 2007 Andre Reis | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). | Biological sciences | William Reardon, Koen Devriendt, Monika Cohen, Raoul C.M. Hennekam, Armand Bottani, Christiane Zweier, Anita Rauch, Peter Nurnberg, Andre Reis, Maaarit M. Peippo, Juliane Hoyer, Sergio Sousa, Jill Clayton-Smith, Jorge Saraiva, Alexandra Cabral, Ina Gohring, Thomy de Ravel, Emilia K. Bijlsma, Alfredo Orrico, Alexander Dreweke | |||
| Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.(stimulated by retinoic acid gene )(Report) | Biological sciences | Christian Becker, David Chitayat, Geert Mortier, Heinrich Sticht, Raoul C.M. Hennekam, Peter Meinecke, Gerhard Hammersen, Anita Rauch, Francesca Pasutto, Gabriele Gillessen-Kaesbach, David R. FitzPatrick, Gudrun Nurnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John L. Tolmie, Gunnar Houge, Lorena Fernandez-Martinez, Sarah Keating, Axel Von Der Wense, Anne Slavotinek, Pierre Bitoun, Peter Nurnberg, Andre Reis | |||
| Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia. | Biological sciences | Ilkka Kaitila, Geert Mortier, Anita Rauch, Andre Reis, Christian T. Thiel | |||
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.