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22. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Lin AE; Alexander ME; Colan SD; Kerr B; Rauen KA; Noonan J; Baffa J; Hopkins E; Sol-Church K; Limongelli G; Digilio MC; Marino B; Innes AM; Aoki Y; Silberbach M; Delrue MA; White SM; Hamilton RM; O'Connor W; Grossfeld PD; Smoot LB; Padera RF; Gripp KW Am J Med Genet A; 2011 Mar; 155A(3):486-507. PubMed ID: 21344638 [TBL] [Abstract][Full Text] [Related]
23. Severe neonatal manifestations of Costello syndrome. Lo IF; Brewer C; Shannon N; Shorto J; Tang B; Black G; Soo MT; Ng DK; Lam ST; Kerr B J Med Genet; 2008 Mar; 45(3):167-71. PubMed ID: 18039947 [TBL] [Abstract][Full Text] [Related]
24. 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]
25. Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient. Xu F; Wang HJ; Lin ZM; Yu B Clin Exp Dermatol; 2015 Jun; 40(4):404-7. PubMed ID: 25677562 [TBL] [Abstract][Full Text] [Related]
26. Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome. Pelc M; Ciara E; Jezela-Stanek A; Kugaudo M; Cieślikowska A; Jurkiewicz D; Janeczko M; Chrzanowska K; Krajewska-Walasek M; Skórka A Clin Dysmorphol; 2017 Apr; 26(2):83-90. PubMed ID: 28027064 [TBL] [Abstract][Full Text] [Related]
27. 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]
28. Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome. Nagai K; Niihori T; Okamoto N; Kondo A; Suga K; Ohhira T; Hayabuchi Y; Homma Y; Nakagawa R; Ifuku T; Abe T; Mizuguchi T; Matsumoto N; Aoki Y Hum Mutat; 2022 Jan; 43(1):3-15. PubMed ID: 34618388 [TBL] [Abstract][Full Text] [Related]
29. Respiratory system involvement in Costello syndrome. Gomez-Ospina N; Kuo C; Ananth AL; Myers A; Brennan ML; Stevenson DA; Bernstein JA; Hudgins L Am J Med Genet A; 2016 Jul; 170(7):1849-57. PubMed ID: 27102959 [TBL] [Abstract][Full Text] [Related]
30. A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome. Frey T; Ivanovski I; Bahr A; Zweier M; Laube J; Luchsinger I; Steindl K; Rauch A Am J Med Genet A; 2023 Aug; 191(8):2074-2082. PubMed ID: 37194190 [TBL] [Abstract][Full Text] [Related]
31. The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer. Hartung AM; Swensen J; Uriz IE; Lapin M; Kristjansdottir K; Petersen US; Bang JM; Guerra B; Andersen HS; Dobrowolski SF; Carey JC; Yu P; Vaughn C; Calhoun A; Larsen MR; Dyrskjøt L; Stevenson DA; Andresen BS PLoS Genet; 2016 May; 12(5):e1006039. PubMed ID: 27195699 [TBL] [Abstract][Full Text] [Related]
32. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. Gripp KW; Lin AE; Nicholson L; Allen W; Cramer A; Jones KL; Kutz W; Peck D; Rebolledo MA; Wheeler PG; Wilson W; Al-Rahawan MM; Stabley DL; Sol-Church K Am J Med Genet A; 2007 Jul; 143A(13):1472-80. PubMed ID: 17551924 [TBL] [Abstract][Full Text] [Related]
33. [Costello syndrome: report of a case]. Tajir M; Fergelot P; Lancelot G; Arveiler B; Elalaoui SC; Lacombe D; Sefiani A Pan Afr Med J; 2012; 12():64. PubMed ID: 23024823 [TBL] [Abstract][Full Text] [Related]
34. Behavioral phenotype in Costello syndrome with atypical mutation: a case report. Alfieri P; Caciolo C; Piccini G; D'Elia L; Valeri G; Menghini D; Tartaglia M; Digilio MC; Dallapiccola B; Vicari S Am J Med Genet B Neuropsychiatr Genet; 2015 Jan; 168B(1):66-71. PubMed ID: 25367099 [TBL] [Abstract][Full Text] [Related]
35. Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome. Menke J; Pauli S; Sigler M; Kühnle I; Shoukier M; Zoll B; Ganster C; Salinas-Riester G; Schaefer IM J Clin Oncol; 2015 May; 33(13):e62-5. PubMed ID: 24637993 [No Abstract] [Full Text] [Related]
36. Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease. Weaver KN; Wang D; Cnota J; Gardner N; Stabley D; Sol-Church K; Gripp KW; Witte DP; Bove KE; Hopkin RJ Pediatr Dev Pathol; 2014; 17(6):421-30. PubMed ID: 25133308 [TBL] [Abstract][Full Text] [Related]
38. Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations. Schøler Nørgaard M; Mogra R; Pinner J; Kagan KO; Warming Jørgensen M; Gjørup V; Petersen OB; Sandager P; Vogel I Ultrasound Obstet Gynecol; 2020 Feb; 55(2):274-275. PubMed ID: 30937994 [No Abstract] [Full Text] [Related]
39. [Hypertrophic cardiomyopathy and Costello syndrome: review of recent related literature with case report]. Güvenç O; Şengül FS; Saygı M; Ergül Y; Güzeltaş A Turk Kardiyol Dern Ars; 2014 Dec; 42(8):767-70. PubMed ID: 25620341 [TBL] [Abstract][Full Text] [Related]
40. 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] [Previous] [Next] [New Search]