Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations-Reference-Cited by-同舟云学术

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

Published:2009-01-21 Issue:6 Volume:17 Page:733-740
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Dentici Maria Lisa,Sarkozy Anna,Pantaleoni Francesca,Carta Claudio,Lepri Francesca,Ferese Rosangela,Cordeddu Viviana,Martinelli Simone,Briuglia Silvana,Digilio Maria Cristina,Zampino Giuseppe,Tartaglia Marco,Dallapiccola Bruno

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2008256.pdf

Reference27 articles.

1. Roberts A, Allanson J, Jadico SK et al: The cardiofaciocutaneous syndrome. J Med Genet 2006; 43: 833–842.

2. Niihori T, Aoki Y, Narumi Y et al: Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 2006; 38: 294–296.

3. Narumi Y, Aoki Y, Niihori T et al: Molecular and clinical characterization of cardio-facio-cutaneous (CFCS) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A 2007; 143: 799–807.

4. Rodriguez-Viciana P, Tetsu O, Tidyman WE et al: Germiline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 2006; 311: 287–290.

5. Schubbert S, Zenker M, Rowe SL et al: Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006; 38: 331–336.

Cited by 74 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy;American Journal of Medical Genetics Part A;2024-08-21

2. Long-term clinical course of adult-onset refractory epilepsy in cardiofaciocutaneous syndrome with a pathogenic MAP2K1 variant: a case report;Frontiers in Genetics;2024-07-17

3. Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle;Advances in Experimental Medicine and Biology;2024

4. Human Genetics of Atrial Septal Defect;Advances in Experimental Medicine and Biology;2024

5. Status epilepticus in BRAF‐related cardio‐facio‐cutaneous syndrome: Focus on neuroimaging clues to physiopathology;Epilepsia Open;2023-12-20