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Items: 12

1.

The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

Gurrieri F, Pomponi MG, Pietrobono R, Lucci-Cordisco E, Silvestri E, Storniello G, Neri G.

Am J Med Genet A. 2011 Jan;155A(1):145-8. doi: 10.1002/ajmg.a.33586. Epub 2010 Dec 9.

PMID:
21204223
2.

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. doi: 10.1002/ajmg.a.33687.

PMID:
20979192
3.

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. doi: 10.1002/ajmg.a.32639.

4.

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.

5.

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
6.

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
7.

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
8.

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
10.

Prenatal findings in a monozygotic twin pregnancy with Costello syndrome.

Van den Bosch T, Van Schoubroeck D, Fryns JP, Naulaers G, Inion AM, Devriendt K.

Prenat Diagn. 2002 May;22(5):415-7.

PMID:
12001198
11.

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

Johnson JP, Golabi M, Norton ME, Rosenblatt RM, Feldman GM, Yang SP, Hall BD, Fries MH, Carey JC.

J Pediatr. 1998 Sep;133(3):441-8. Review.

PMID:
9738731
12.

Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.

Zampino G, Mastroiacovo P, Ricci R, Zollino M, Segni G, Martini-Neri ME, Neri G.

Am J Med Genet. 1993 Aug 15;47(2):176-83. Review.

PMID:
8213903
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