American Journal of Human Genetics 2007 Peter Nurnberg - Abstracts
| American Journal of Human Genetics 2007 Peter Nurnberg | |||||
| 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 | |||
| 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 | |||
| RAB23 mutations in Carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial-suture development and obesity.(Report) | Biological sciences | Andrew O.M. Wilkie, Irene M.J. Mathijssen, Jenny E.V. Morton, Elizabeth Sweeney, Steven A. Wall, Peter Nurnberg, Dagan Jenkins, Dominik Seelow, Fernanda S. Jehee, Jeffrey L. Marsh, Maria Rita Passos-Bueno, Chad A. Perlyn, Luis G. Alonso, Daniela F. Bueno, Dian Donnai, Dragana Josifiova, Karen Helene Orstavik | |||
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