American Journal of Human Genetics 2007 Anita Rauch - Abstracts
| American Journal of Human Genetics 2007 Anita Rauch | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.(Clinical report) | Biological sciences | Christian Becker, Frank Rutsch, Antonio Cao, Wolfgang Hohne, Anita Rauch, Gudrun Nurnberg, Peter Nurnberg, Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, Mohammad Reza Toliat, Gianluca Usala, Manuela Uda, Marco Masala, Mara Marongiu, Francesca Chiappe, Robert Kleta, Bernd Wollnik, Friedrich Strasser, Thomas Reese, Jakobs Cornelis, Gerd Kurlemann | |||
| 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 | |||
| Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.(T-box transcription factor gene )(Report) | Biological sciences | Christine E. Campbell, Heinrich Sticht, Christiane Zweier, Inci Aydin-Yaylagul, Anita Rauch | |||
| 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.