Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 125

1.

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
2.

Symptomatic Chiari I malformation in Kabuki syndrome.

Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE.

Am J Med Genet A. 2005 Jan 30;132A(3):273-5.

PMID:
15523623
3.

Costello syndrome and neurological abnormalities.

Delrue MA, Chateil JF, Arveiler B, Lacombe D.

Am J Med Genet A. 2003 Dec 15;123A(3):301-5. Review.

PMID:
14608654
4.

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

Franceschini P, Licata D, Di Cara G, Guala A, Bianchi M, Ingrosso G, Franceschini D.

Am J Med Genet. 1999 Sep 10;86(2):174-9. Review.

PMID:
10449656
5.

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, Klüppel M, Lin AE.

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

PMID:
15637729
6.

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
7.

Costello syndrome: report and review.

van Eeghen AM, van Gelderen I, Hennekam RC.

Am J Med Genet. 1999 Jan 15;82(2):187-93. Review.

PMID:
9934987
8.

Costello syndrome.

Philip N, Sigaudy S.

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

9.

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
10.

CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years.

Searle LC, Graham JM Jr, Prasad C, Blake KD.

Am J Med Genet A. 2005 Mar 15;133A(3):344-9.

PMID:
15637714
11.

The Costello syndrome.

Say B, Güçsavaş M, Morgan H, York C.

Am J Med Genet. 1993 Aug 15;47(2):163-5. Review.

PMID:
8213897
12.

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
13.

The FG syndrome: report of a large Italian series.

Battaglia A, Chines C, Carey JC.

Am J Med Genet A. 2006 Oct 1;140(19):2075-9.

PMID:
16691600
14.

Costello syndrome: orthopaedic manifestations and functional health.

Yassir WK, Grottkau BE, Goldberg MJ.

J Pediatr Orthop. 2003 Jan-Feb;23(1):94-8.

PMID:
12499952
15.

Anaesthetic implications of Costello syndrome.

Katcher K, Bothwell M, Tobias JD.

Paediatr Anaesth. 2003 Mar;13(3):257-62.

PMID:
12641690
16.

Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome.

Wallerstein R, Scott CI Jr, Nicholson L.

Am J Med Genet. 1997 Jun 13;70(3):267-72.

PMID:
9188664
17.

Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study.

Mervis CB, Becerra AM, Rowe ML, Hersh JH, Morris CA.

Am J Med Genet A. 2005 Jan 30;132A(3):248-55.

PMID:
15523605
18.

Costello syndrome and hyperinsulinemic hypoglycemia.

Alexander S, Ramadan D, Alkhayyat H, Al-Sharkawi I, Backer KC, El-Sabban F, Hussain K.

Am J Med Genet A. 2005 Dec 15;139(3):227-30.

PMID:
16278907
19.

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
20.

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.

Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L].

PMID:
18245432

Supplemental Content

Support Center