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5. Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. Sol-Church K; Stabley DL; Demmer LA; Agbulos A; Lin AE; Smoot L; Nicholson L; Gripp KW Am J Med Genet A; 2009 Mar; 149A(3):315-21. PubMed ID: 19206176 [TBL] [Abstract][Full Text] [Related]
6. Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation. Girisha KM; Lewis LE; Phadke SR; Kutsche K Am J Med Genet A; 2010 Nov; 152A(11):2861-4. PubMed ID: 20979192 [TBL] [Abstract][Full Text] [Related]
7. HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Gripp KW; Lin AE; Stabley DL; Nicholson L; Scott CI; Doyle D; Aoki Y; Matsubara Y; Zackai EH; Lapunzina P; Gonzalez-Meneses A; Holbrook J; Agresta CA; Gonzalez IL; Sol-Church K Am J Med Genet A; 2006 Jan; 140(1):1-7. PubMed ID: 16329078 [TBL] [Abstract][Full Text] [Related]
8. Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. Gripp KW; Stabley DL; Geller PL; Hopkins E; Stevenson DA; Carey JC; Sol-Church K Am J Med Genet A; 2011 Sep; 155A(9):2263-8. PubMed ID: 21834037 [TBL] [Abstract][Full Text] [Related]
10. Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation. Denayer E; Parret A; Chmara M; Schubbert S; Vogels A; Devriendt K; Frijns JP; Rybin V; de Ravel TJ; Shannon K; Cools J; Scheffzek K; Legius E Hum Mutat; 2008 Feb; 29(2):232-9. PubMed ID: 17979197 [TBL] [Abstract][Full Text] [Related]
11. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. Bertola D; Buscarilli M; Stabley DL; Baker L; Doyle D; Bartholomew DW; Sol-Church K; Gripp KW Am J Med Genet A; 2017 May; 173(5):1309-1318. PubMed ID: 28371260 [TBL] [Abstract][Full Text] [Related]
12. Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome. Rosenberger G; Meien S; Kutsche K Hum Mutat; 2009 Mar; 30(3):352-62. PubMed ID: 19035362 [TBL] [Abstract][Full Text] [Related]
13. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. Nava C; Hanna N; Michot C; Pereira S; Pouvreau N; Niihori T; Aoki Y; Matsubara Y; Arveiler B; Lacombe D; Pasmant E; Parfait B; Baumann C; Héron D; Sigaudy S; Toutain A; Rio M; Goldenberg A; Leheup B; Verloes A; Cavé H J Med Genet; 2007 Dec; 44(12):763-71. PubMed ID: 17704260 [TBL] [Abstract][Full Text] [Related]
14. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences. Gripp KW; Sol-Church K; Smpokou P; Graham GE; Stevenson DA; Hanson H; Viskochil DH; Baker LC; Russo B; Gardner N; Stabley DL; Kolbe V; Rosenberger G Am J Med Genet A; 2015 Sep; 167A(9):2085-97. PubMed ID: 25914166 [TBL] [Abstract][Full Text] [Related]
15. Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review. Qian W; Zhang M; Huang H; Chen Y; Park G; Zeng N; Li Y; Lu Q; Luo D Mol Genet Genomic Med; 2021 Jun; 9(6):e1690. PubMed ID: 33932139 [TBL] [Abstract][Full Text] [Related]
16. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. Kerr B; Delrue MA; Sigaudy S; Perveen R; Marche M; Burgelin I; Stef M; Tang B; Eden OB; O'Sullivan J; De Sandre-Giovannoli A; Reardon W; Brewer C; Bennett C; Quarell O; M'Cann E; Donnai D; Stewart F; Hennekam R; Cavé H; Verloes A; Philip N; Lacombe D; Levy N; Arveiler B; Black G J Med Genet; 2006 May; 43(5):401-5. PubMed ID: 16443854 [TBL] [Abstract][Full Text] [Related]
17. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. Gripp KW; Hopkins E; Sol-Church K; Stabley DL; Axelrad ME; Doyle D; Dobyns WB; Hudson C; Johnson J; Tenconi R; Graham GE; Sousa AB; Heller R; Piccione M; Corsello G; Herman GE; Tartaglia M; Lin AE Am J Med Genet A; 2011 Apr; 155A(4):706-16. PubMed ID: 21438134 [TBL] [Abstract][Full Text] [Related]
18. Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. van der Burgt I; Kupsky W; Stassou S; Nadroo A; Barroso C; Diem A; Kratz CP; Dvorsky R; Ahmadian MR; Zenker M J Med Genet; 2007 Jul; 44(7):459-62. PubMed ID: 17412879 [TBL] [Abstract][Full Text] [Related]
19. Costello syndrome model mice with a Hras Katata Y; Inoue SI; Asao A; Kobayashi S; Terui H; Inoue-Shibui A; Abe T; Niihori T; Aiba S; Ishii N; Kure S; Aoki Y Cell Death Dis; 2020 Aug; 11(8):617. PubMed ID: 32792500 [TBL] [Abstract][Full Text] [Related]
20. Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation. Pierpont ME; Richards M; Engel WK; Mendelsohn NJ; Summers CG Am J Med Genet A; 2017 May; 173(5):1342-1347. PubMed ID: 28337834 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]