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Items: 1 to 20 of 72

1.

Tumor predisposition in Costello syndrome.

Gripp KW.

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):72-7. Review.

PMID:
16010679
2.

Elevated catecholamine metabolites in patients with Costello syndrome.

Gripp KW, Kawame H, Viskochil DH, Nicholson L.

Am J Med Genet A. 2004 Jul 1;128A(1):48-51.

PMID:
15211656
3.

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.

Gripp KW, Scott CI Jr, Nicholson L, McDonald-McGinn DM, Ozeran JD, Jones MC, Lin AE, Zackai EH.

Am J Med Genet. 2002 Feb 15;108(1):80-7.

PMID:
11857556
4.

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. doi: 10.1002/ajmg.a.32227.

PMID:
18247425
5.

Costello Syndrome.

Gripp KW, Lin AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Aug 29 [updated 2012 Jan 12].

6.

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
7.

Costello syndrome: an overview.

Hennekam RC.

Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):42-8. Review.

PMID:
12561057
8.

Risk of tumorigenesis in overgrowth syndromes: a comprehensive review.

Lapunzina P.

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):53-71. Review.

PMID:
16010678
9.

[Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development].

Weidle B, Orstavik KH.

Tidsskr Nor Laegeforen. 1998 Apr 20;118(10):1556-8. Norwegian.

PMID:
9615582
10.

Costello syndrome.

Philip N, Sigaudy S.

J Med Genet. 1998 Mar;35(3):238-40. Review.

11.

The adult phenotype in Costello syndrome.

White SM, Graham JM Jr, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A.

Am J Med Genet A. 2005 Jul 15;136(2):128-35. Erratum in: Am J Med Genet A. 2005 Nov 15;139(1):55.

PMID:
15940703
12.

Follow-up and risk of tumors in overgrowth syndromes.

Gracia Bouthelier R, Lapunzina P.

J Pediatr Endocrinol Metab. 2005 Dec;18 Suppl 1:1227-35. Review.

PMID:
16398453
13.

Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome.

Smith LP, Podraza J, Proud VK.

Am J Med Genet A. 2009 Feb 15;149A(4):779-84. doi: 10.1002/ajmg.a.32778.

PMID:
19288554
14.

Behavioral and temperamental features of children with Costello syndrome.

Galéra C, Delrue MA, Goizet C, Etchegoyhen K, Taupiac E, Sigaudy S, Arveiler B, Philip N, Bouvard M, Lacombe D.

Am J Med Genet A. 2006 May 1;140(9):968-74.

PMID:
16575889
15.

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, 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 1;140(1):1-7.

PMID:
16329078
16.

Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.

Kratz CP, Steinemann D, Niemeyer CM, Schlegelberger B, Koscielniak E, Kontny U, Zenker M.

Hum Mol Genet. 2007 Feb 15;16(4):374-9. Epub 2006 Dec 12. Erratum in: Hum Mol Genet. 2007 Nov 15;16(22):2781.

PMID:
17164262
17.

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
18.

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.

Al-Rahawan MM, Chute DJ, Sol-Church K, Gripp KW, Stabley DL, McDaniel NL, Wilson WG, Waldron PE.

Am J Med Genet A. 2007 Jul 1;143A(13):1481-8.

PMID:
17567882
19.

Concerning "Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol".

Di Rocco M, Dodero P.

Am J Med Genet A. 2003 Apr 15;118A(2):199. No abstract available.

PMID:
12698963
20.

Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes.

Cohen MM Jr.

Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):49-56. Review.

PMID:
12561058

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