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Items: 1 to 20 of 120

1.

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE.

Am J Med Genet A. 2011 Apr;155A(4):706-16. doi: 10.1002/ajmg.a.33884. Epub 2011 Mar 15.

2.

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
3.

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.

4.

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.

6.

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

Girisha KM, Lewis LE, Phadke SR, Kutsche K.

Am J Med Genet A. 2010 Nov;152A(11):2861-4. doi: 10.1002/ajmg.a.33687.

PMID:
20979192
7.

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.

Lorenz S, Petersen C, Kordaß U, Seidel H, Zenker M, Kutsche K.

Eur J Med Genet. 2012 Nov;55(11):615-9. doi: 10.1016/j.ejmg.2012.07.007. Epub 2012 Aug 7.

PMID:
22926243
8.

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
9.

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.

Pierpont ME, Richards M, Engel WK, Mendelsohn NJ, Summers CG.

Am J Med Genet A. 2017 May;173(5):1342-1347. doi: 10.1002/ajmg.a.38110. Epub 2017 Mar 23.

PMID:
28337834
10.

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; 1993-2019.
2006 Aug 29 [updated 2012 Jan 12].

11.

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T, Aoki Y, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Kawame H, Inazawa J, Ohura T, Arai H, Nabatame S, Kikuchi K, Kuroki Y, Miura M, Tanaka T, Ohtake A, Omori I, Ihara K, Mabe H, Watanabe K, Niijima S, Okano E, Numabe H, Matsubara Y.

J Hum Genet. 2011 Oct;56(10):707-15. doi: 10.1038/jhg.2011.85. Epub 2011 Aug 18.

PMID:
21850009
12.

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.

Gripp KW, Hopkins E, Serrano A, Leonard NJ, Stabley DL, Sol-Church K.

Am J Med Genet A. 2012 May;158A(5):1095-101. doi: 10.1002/ajmg.a.35294. Epub 2012 Apr 9.

13.

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, Noonan J, Baffa J, Hopkins E, Sol-Church K, Limongelli G, Digilio MC, Marino B, Innes AM, Aoki Y, Silberbach M, Delrue MA, White SM, Hamilton RM, O'Connor W, Grossfeld PD, Smoot LB, Padera RF, Gripp KW.

Am J Med Genet A. 2011 Mar;155A(3):486-507. doi: 10.1002/ajmg.a.33857. Epub 2011 Feb 22.

PMID:
21344638
14.

A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.

Chiu AT, Leung GK, Chu YW, Gripp KW, Chung BH.

Am J Med Genet A. 2017 Apr;173(4):1109-1114. doi: 10.1002/ajmg.a.38118.

PMID:
28328122
15.

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome.

Pelc M, Ciara E, Jezela-Stanek A, Kugaudo M, Cieślikowska A, Jurkiewicz D, Janeczko M, Chrzanowska K, Krajewska-Walasek M, Skórka A.

Clin Dysmorphol. 2017 Apr;26(2):83-90. doi: 10.1097/MCD.0000000000000165.

PMID:
28027064
16.

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

Gripp KW, Stabley DL, Geller PL, Hopkins E, Stevenson DA, Carey JC, Sol-Church K.

Am J Med Genet A. 2011 Sep;155A(9):2263-8. doi: 10.1002/ajmg.a.34150. Epub 2011 Aug 10.

17.

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.

Gripp KW, Kolbe V, Brandenstein LI, Rosenberger G.

Clin Genet. 2017 Sep;92(3):332-337. doi: 10.1111/cge.12980. Epub 2017 Mar 30.

PMID:
28139825
18.

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
19.

Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review.

Axelrad ME, Schwartz DD, Katzenstein JM, Hopkins E, Gripp KW.

Am J Med Genet C Semin Med Genet. 2011 May 15;157C(2):115-22. doi: 10.1002/ajmg.c.30299. Epub 2011 Apr 14. Review.

PMID:
21495179
20.

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

Hiippala A, Vasilescu C, Tallila J, Alastalo TP, Paetau A, Tyni T, Suomalainen A, Euro L, Ojala T.

Am J Med Genet A. 2016 Jun;170(6):1433-8. doi: 10.1002/ajmg.a.37596. Epub 2016 Feb 17.

PMID:
26888048

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