Results 1 -
10
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35
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Noonan syndrome 3
- ... Testing Registry: Noonan syndrome 2 Genetic Testing Registry: Noonan syndrome 3 Genetic Testing Registry: Noonan syndrome 4 Genetic Testing ... NOONAN SYNDROME 2; NS2 NOONAN SYNDROME 4; NS4 NOONAN SYNDROME 3; NS3 NOONAN SYNDROME 5; NS5 NOONAN SYNDROME 8; ...
- ... of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and ... Genet A. 2006 Aug 1;140(15):1681-3. doi: 10.1002/ajmg.a.31315. No abstract ... T, Neri G. The cardiofaciocutaneous syndrome. J Med Genet. 2006 Nov;43(11):833- ...
- ... Registry: LEOPARD syndrome 2 Genetic Testing Registry: LEOPARD syndrome 3 Genetic Testing Registry: Noonan syndrome with multiple lentigines Noonan syndrome with multiple ...
- ... Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Mar;38(3):331-6. doi: 10.1038/ng1748. Epub 2006 ...
- ... Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Citation on PubMed Romano AA, Allanson JE, Dahlgren ...
- ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome. In affected infants, it can be difficult to tell the three conditions apart based on their physical features. However, ...
- ... Y. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat. 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187. Citation ...
- Causes of Cardiomyopathy (Children's Cardiomyopathy Foundation)Cardiomyopathy/Children ... Cardiomyopathy ... Children's Cardiomyopathy Foundation
- ... the Ras family of oncogenes, which also includes three other genes: KRAS, HRAS, and NRAS. These ... found to cause Noonan syndrome. This condition is characterized by mildly unusual facial ...
- ... novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple ... syndrome. Science. 2006 Mar 3;311(5765):1287-90. doi: 10.1126/science. ...