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Items: 1 to 20 of 140

1.

Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.

Siegel DH, Mann JA, Krol AL, Rauen KA.

Br J Dermatol. 2012 Mar;166(3):601-7. doi: 10.1111/j.1365-2133.2011.10744.x.

2.

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.

Siegel DH, McKenzie J, Frieden IJ, Rauen KA.

Br J Dermatol. 2011 Mar;164(3):521-9. doi: 10.1111/j.1365-2133.2010.10122.x. Epub 2011 Jan 28.

3.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

Gripp KW, Sol-Church K, Smpokou P, Graham GE, Stevenson DA, Hanson H, Viskochil DH, Baker LC, Russo B, Gardner N, Stabley DL, Kolbe V, Rosenberger G.

Am J Med Genet A. 2015 Sep;167A(9):2085-97. doi: 10.1002/ajmg.a.37128. Epub 2015 Apr 25.

4.

Craniofacial and dental development in Costello syndrome.

Goodwin AF, Oberoi S, Landan M, Charles C, Massie JC, Fairley C, Rauen KA, Klein OD.

Am J Med Genet A. 2014 Jun;164A(6):1425-30. doi: 10.1002/ajmg.a.36475. Epub 2014 Mar 25.

5.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H.

J Med Genet. 2007 Dec;44(12):763-71. Epub 2007 Aug 17.

6.

Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: developmental consequences of germline Ras/MAPK activation on myogenesis.

Tidyman WE, Lee HS, Rauen KA.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):104-14. doi: 10.1002/ajmg.c.30298. Epub 2011 Apr 14.

PMID:
21495178
7.

Autism traits in the RASopathies.

Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA.

J Med Genet. 2014 Jan;51(1):10-20. doi: 10.1136/jmedgenet-2013-101951. Epub 2013 Oct 7.

8.

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

Bertola D, Buscarilli M, Stabley DL, Baker L, Doyle D, Bartholomew DW, Sol-Church K, Gripp KW.

Am J Med Genet A. 2017 May;173(5):1309-1318. doi: 10.1002/ajmg.a.38178. Epub 2017 Apr 3.

PMID:
28371260
9.

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
10.

Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.

Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, McMahon M, Melese T, Munster PN, Nadaf S, Packer RJ, Sebolt-Leopold J, Viskochil DH.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):136-46. doi: 10.1002/ajmg.c.30294. Epub 2011 Apr 14.

11.

Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review.

Morice-Picard F, Ezzedine K, Delrue MA, Arveiler B, Fergelot P, Taïeb A, Lacombe D, Boralevi F.

Pediatr Dermatol. 2013 Nov-Dec;30(6):665-73. doi: 10.1111/pde.12171. Review.

PMID:
24283439
12.

Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.

Allanson JE.

Am J Med Genet A. 2016 Oct;170(10):2570-7. doi: 10.1002/ajmg.a.37736. Epub 2016 May 7.

PMID:
27155212
13.

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
14.

[Neonatal atrial tachycardia: suggestive clinical sign of Costello syndrome].

Laux D, Bajolle F, Maltret A, Bonnet D.

Arch Pediatr. 2011 Oct;18(10):1087-9. doi: 10.1016/j.arcped.2011.07.010. Epub 2011 Aug 31. French.

PMID:
21885263
15.

Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.

Tumurkhuu M, Saitoh M, Sato A, Takahashi K, Mimaki M, Takita J, Takeshita K, Hama T, Oka A, Mizuguchi M.

Pediatr Int. 2010 Aug;52(4):557-62. doi: 10.1111/j.1442-200X.2009.03020.x.

PMID:
20030748
16.

Abnormal Ras signaling in Costello syndrome (CS) negatively regulates enamel formation.

Goodwin AF, Tidyman WE, Jheon AH, Sharir A, Zheng X, Charles C, Fagin JA, McMahon M, Diekwisch TG, Ganss B, Rauen KA, Klein OD.

Hum Mol Genet. 2014 Feb 1;23(3):682-92. doi: 10.1093/hmg/ddt455. Epub 2013 Sep 20.

17.

Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.

Xu F, Wang HJ, Lin ZM, Yu B.

Clin Exp Dermatol. 2015 Jun;40(4):404-7. doi: 10.1111/ced.12571. Epub 2015 Feb 10.

PMID:
25677562
18.

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
19.

Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin.

Marukian NV, Levinsohn JL, Craiglow BG, Milstone LM, Choate KA.

Pediatr Dermatol. 2017 Mar;34(2):160-162. doi: 10.1111/pde.13057. Epub 2016 Dec 23.

PMID:
28008647
20.

[Costello syndrome. A rare RASopathy with cutaneous symptoms].

Wirtz M, Frank J.

Hautarzt. 2015 Apr;66(4):225-8. doi: 10.1007/s00105-015-3592-2. German.

PMID:
25722179

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