PubMed

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. Epub 2007 Apr 5.PMID: 17412879 [PubMed - indexed for MEDLINE]Related articles

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

Gripp KW, Innes AM, Axelrad ME, Gillan TL, Parboosingh JS, Davies C, Leonard NJ, Lapointe M, Doyle D, Catalano S, Nicholson L, Stabley DL, Sol-Church K.

Am J Med Genet A. 2008 Mar 15;146A(6):683-90.PMID: 18247425 [PubMed - indexed for MEDLINE]Related articles

Germline mutations in HRAS proto-oncogene cause Costello syndrome.

Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y.

Nat Genet. 2005 Oct;37(10):1038-40. Epub 2005 Sep 18.PMID: 16170316 [PubMed - indexed for MEDLINE]Related articles

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

Søvik O, Schubbert S, Houge G, Steine SJ, Norgård G, Engelsen B, Njølstad PR, Shannon K, Molven A.

J Med Genet. 2007 Jul;44(7):e84.PMID: 17601930 [PubMed - indexed for MEDLINE]Related articles

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K.

Am J Med Genet A. 2006 Oct 15;140(20):2163-9.PMID: 16969868 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2007 Aug 17.PMID: 17704260 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19035362 [PubMed - indexed for MEDLINE]Related articles

HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA.

Am J Med Genet A. 2006 Jan 1;140(1):8-16.PMID: 16372351 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2006 Jan 27.PMID: 16443854 [PubMed - indexed for MEDLINE]Related articlesFree article

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. Epub 2007 Nov 26.PMID: 18039947 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19206176 [PubMed - indexed for MEDLINE]Related articles

Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

van Steensel MA, Vreeburg M, Peels C, van Ravenswaaij-Arts CM, Bijlsma E, Schrander-Stumpel CT, van Geel M.

Exp Dermatol. 2006 Sep;15(9):731-4.PMID: 16881968 [PubMed - indexed for MEDLINE]Related articles

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 1;143A(13):1472-80.PMID: 17551924 [PubMed - indexed for MEDLINE]Related articles

HRAS and the Costello syndrome.

Rauen KA.

Clin Genet. 2007 Feb;71(2):101-8. Review.PMID: 17250658 [PubMed - indexed for MEDLINE]Related articles

Paternal bias in parental origin of HRAS mutations in Costello syndrome.

Sol-Church K, Stabley DL, Nicholson L, Gonzalez IL, Gripp KW.

Hum Mutat. 2006 Aug;27(8):736-41.PMID: 16835863 [PubMed - indexed for MEDLINE]Related articles

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M.

Hum Mutat. 2007 Mar;28(3):265-72.PMID: 17054105 [PubMed - indexed for MEDLINE]Related articles

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.

Clin Genet. 2008 Jan;73(1):62-70. Epub 2007 Nov 27.PMID: 18042262 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 17979197 [PubMed - indexed for MEDLINE]Related articles

Costello syndrome and related disorders.

Quezada E, Gripp KW.

Curr Opin Pediatr. 2007 Dec;19(6):636-44.PMID: 18025929 [PubMed - indexed for MEDLINE]Related articles

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K.

J Med Genet. 2007 Feb;44(2):131-5. Epub 2006 Oct 20.PMID: 17056636 [PubMed - indexed for MEDLINE]Related articles