American Journal of Human Genetics 2007 Tania Attie-Bitach - Abstracts
| American Journal of Human Genetics 2007 Tania Attie-Bitach | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. | Biological sciences | Michel Goossens, William Reardon, Annick Toutain, Jeanne Amiel, Laure Stanchina, Viviane Baral, Veronique Pingault, Nadege Bondurand, Pierre Sarda, Tania Attie-Bitach, Florence Dastot-Le Moal, Nathalie Collot, Sandrine Marlin, Irina Giurgea, Laurent Skopinski, Anis Echaieb, Marilyn Lackmy-Port-Lis, Renaud Touraine | |||
| Matthew-Wood syndrome is caused by truncating mutations in the retinol binding protein receptor gene STRA6.(Report) | Biological sciences | Arnold Munnich, Stanislas Lyonnet, Ferechte Encha-Razavi, Michel Vekemans, Tania Attie-Bitach, Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Heather C. Etchevers, Soumaya Mougou-Zrelli, Sophie Delahaye, Bettina Grattagliano-Bessiere, Maryse Bonniere | |||
| Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. | Biological sciences | Marie-Claire Gubler, Yves Dumez, Annick Toutain, Arnold Munnich, Stanislas Lyonnet, Emmanuelle Genin, Colin A. Johnson, Lekbir Baala, Sophie Saunier, Sophie Audollent, Catherine Ozilou, Remi Salomon, Ferechte Encha-Razavi, Michel Vekemans, Tania Attie-Bitach, Jelena Martinovic, Marie-Claude Babron, Sivanthiny Sivanandamoorthy, Marie Gonzales, Eleanor Rattenberry, Chantal Esculpavit, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie-Christine Dauge, Joelle Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Francoise Menez, Anne-Marie Beaufrere, Christine Francannet, Julia Tantau, Martine Sinico, Fiona MacDonald | |||
| The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.(Report) | Biological sciences | Marie-Claire Gubler, Arnold Munnich, Stanislas Lyonnet, Colin A. Johnson, Lekbir Baala, Stephane Romano, Rana Khaddour, Sophie Saunier, Ursula M. Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet, Remi Salomon, Ferechte Encha-Razavi, Nathalie Boddaert, Pascale De Lonlay, Michel Vekemans, Corinne Antignac, Tania Attie-Bitach | |||
This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.