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Results: 1 to 20 of 67

Related Articles by Review for PubMed (Select 16329078)

1.

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
2.

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
3.

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
4.

HRAS and the Costello syndrome.

Rauen KA.

Clin Genet. 2007 Feb;71(2):101-8. Review.

PMID:
17250658
5.

[Costello syndrome: clinical aspects and tumor risk].

Delrue MA, Arveiler B, Lacombe D.

Arch Pediatr. 2002 Oct;9(10):1059-63. Review. French.

PMID:
12462839
6.

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.

Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A.

Br J Dermatol. 2007 May;156(5):1015-9. Epub 2007 Mar 23. Review.

PMID:
17381453
7.

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
8.

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

Gripp KW, Lin AE.

Genet Med. 2012 Mar;14(3):285-92. doi: 10.1038/gim.0b013e31822dd91f. Review.

PMID:
22261753
9.

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G.

Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Review.

PMID:
19215041
10.

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
11.

Genetics of the Costello syndrome.

Lurie IW.

Am J Med Genet. 1994 Sep 1;52(3):358-9. Review.

PMID:
7528974
12.

The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.

Kerr B, Allanson J, Delrue MA, Gripp KW, Lacombe D, Lin AE, Rauen KA.

Am J Med Genet A. 2008 May 1;146A(9):1218-20. doi: 10.1002/ajmg.a.32273. Review. No abstract available.

PMID:
18386799
13.

The Costello syndrome: report of a case and review of the literature.

Kondo I, Tamanaha K, Ashimine K.

Jpn J Hum Genet. 1993 Dec;38(4):433-6. Review.

PMID:
7514457
14.

The cardiofaciocutaneous syndrome.

Roberts A, Allanson J, Jadico SK, Kavamura MI, Noonan J, Opitz JM, Young T, Neri G.

J Med Genet. 2006 Nov;43(11):833-42. Epub 2006 Jul 6. Review.

15.

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
16.

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R.

Am J Med Genet A. 2006 Mar 15;140(6):611-7. Review.

PMID:
16470743
17.

Further delineation of Costello syndrome.

Teebi AS, Shaabani IS.

Am J Med Genet. 1993 Aug 15;47(2):166-8. Review.

PMID:
8213898
18.

Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J.

Am J Med Genet. 2001 Feb 15;99(1):1-7. Review.

PMID:
11170086
19.

Costello syndrome: an overview.

Hennekam RC.

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

PMID:
12561057
20.

CFC index for the diagnosis of cardiofaciocutaneous syndrome.

Kavamura MI, Peres CA, Alchorne MM, Brunoni D.

Am J Med Genet. 2002 Sep 15;112(1):12-6. Review.

PMID:
12239713
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