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Items: 1 to 20 of 82

1.

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma.

Sigaudy S, Vittu G, David A, Vigneron J, Lacombe D, Moncla A, Flori E, Philip N.

Eur J Pediatr. 2000 Mar;159(3):139-42.

PMID:
10664222
2.

Costello syndrome: two cases with embryonal rhabdomyosarcoma.

Kerr B, Eden OB, Dandamudi R, Shannon N, Quarrell O, Emmerson A, Ladusans E, Gerrard M, Donnai D.

J Med Genet. 1998 Dec;35(12):1036-9.

3.

Parameningeal rhabdomyosarcoma in a patient with Costello syndrome.

O'Neal JP, Ramdas J, Wood WE, Pellitteri PK.

J Pediatr Hematol Oncol. 2004 Jun;26(6):389-92.

PMID:
15167355
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.

Further delineation of cardiac abnormalities in Costello syndrome.

Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI Jr, Nicholson L.

Am J Med Genet. 2002 Aug 1;111(2):115-29. Review.

PMID:
12210337
6.

Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy.

Hinek A, Teitell MA, Schoyer L, Allen W, Gripp KW, Hamilton R, Weksberg R, Kl├╝ppel M, Lin AE.

Am J Med Genet A. 2005 Feb 15;133A(1):1-12.

PMID:
15637729
7.

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
8.

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
9.

Costello syndrome: a cancer predisposing syndrome?

Moroni I, Bedeschi F, Luksch R, Casanova M, D'Incerti L, Uziel G, Selicorni A.

Clin Dysmorphol. 2000 Oct;9(4):265-8. Review.

PMID:
11045582
10.

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

Bertola DR, Pereira AC, Brasil AS, Albano LM, Kim CA, Krieger JE.

J Hum Genet. 2007;52(6):521-6. Epub 2007 Apr 28.

PMID:
17468812
11.

Further delineation of the behavioral and neurologic features in Costello syndrome.

Kawame H, Matsui M, Kurosawa K, Matsuo M, Masuno M, Ohashi H, Fueki N, Aoyama K, Miyatsuka Y, Suzuki K, Akatsuka A, Ochiai Y, Fukushima Y.

Am J Med Genet A. 2003 Apr 1;118A(1):8-14.

PMID:
12605434
12.

Costello syndrome.

Philip N, Sigaudy S.

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

13.

Life-threatening cardiac involvement throughout life in a case of Costello syndrome.

Fukao T, Sakai S, Shimozawa N, Kuwahara T, Kano M, Goto E, Nakashima Y, Katagiri-Kawade M, Ichihashi H, Masuno M, Orii T, Kondo N.

Clin Genet. 1996 Oct;50(4):244-7. Review.

PMID:
9001809
14.

Cardio-facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations.

Demir E, Mancano G, Pomponi MG, Ozcelik A, Gucuyener K, Neri G.

Neuropediatrics. 2010 Jun;41(3):127-31. doi: 10.1055/s-0030-1262840. Epub 2010 Sep 21.

PMID:
20859831
15.

Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome.

Yildirim SV, Kale-Cekinmez E, Ozcan D, Derbent M.

Turk J Pediatr. 2008 May-Jun;50(3):275-7.

PMID:
18773675
16.

Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.

Takahashi M, Ohashi H.

Congenit Anom (Kyoto). 2013 Jun;53(2):67-72. doi: 10.1111/cga.12004.

PMID:
23751039
17.

Costello syndrome: an overview.

Hennekam RC.

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

PMID:
12561057
18.

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
19.

Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma.

Limwongse C, Schwartz S, Bocian M, Robin NH.

Am J Med Genet. 1999 Jan 1;82(1):20-4. Review.

PMID:
9916837
20.

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