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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Authors: Endele, Sabine; Rosenberger, Georg; Geider, Kirsten; Popp, Bernt; Tamer, Ceyhun; Stefanova, Irina; Milh, Mathieu; Kortüm, Fanny; Fritsch, Angela; Pientka, Friederike K; Hellenbroich, Yorck; Kalscheuer, Vera M; Kohlhase, Jürgen; Moog, Ute; Rappold, Gudrun; Rauch, Anita; Ropers, Hans-Hilger; von Spiczak, Sarah; Tönnies, Holger; Villeneuve, Nathalie; Villard, Laurent; Zabel, Bernhard; Zenker, Martin; Laube, Bodo; Reis, André; Wieczorek, Dagmar; Van Maldergem, Lionel; Kutsche, Kerstin
Date of Publication (YYYY-MM-DD): 2010-10-03
Title of Journal: Nature Genetics.
Volume: 42
Issue / Number: 11
Start Page: 1021
End Page: 1026
Document Type: Article
ID: 532578.0
 
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Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
Authors: Bartels, Cynthia F.; Bükülmez, Hülya; Padayatti, Pius; Rhee, David K.; van Ravenswaaij-Arts, Conny; Pauli, Richard M.; Mundlos, Stefan; Chitayat, David; Shih, Ling-Yu; Al-Gazali, Lihadh I.; Kant, Sarina; Cole, Trevor; Morton, Jenny; Cormier-Daire, Valérie; Faivre, Laurence; Lees, Melissa; Kirk, Jeremy; Mortier, Geert R.; Leroy, Jules; Zabel, Bernhard; Kim, Chong Ae; Crow, Yanick; Braverman, Nancy E.; van den Akker, Focco; Warman, Matthew L.
Date of Publication (YYYY-MM-DD): 2004-07
Title of Journal: American Journal of Human Genetics
Volume: 75
Issue / Number: 1
Start Page: 27
End Page: 34
Document Type: Article
ID: 228710.0
Entries: 1-2  
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