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Items: 1 to 20 of 146

1.

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.

2.

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
3.

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.

4.

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

Sol-Church K, Stabley DL, Demmer LA, Agbulos A, Lin AE, Smoot L, Nicholson L, Gripp KW.

Am J Med Genet A. 2009 Mar;149A(3):315-21. doi: 10.1002/ajmg.a.32639.

5.

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
6.

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.

7.

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
8.

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K.

Am J Med Genet A. 2006 Oct 15;140(20):2163-9.

PMID:
16969868
9.

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
10.

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
11.

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.

12.

De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

Søvik O, Schubbert S, Houge G, Steine SJ, Norgård G, Engelsen B, Njølstad PR, Shannon K, Molven A.

J Med Genet. 2007 Jul;44(7):e84.

13.

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Lorenz S, Lissewski C, Simsek-Kiper PO, Alanay Y, Boduroglu K, Zenker M, Rosenberger G.

Hum Mol Genet. 2013 Apr 15;22(8):1643-53. doi: 10.1093/hmg/ddt014. Epub 2013 Jan 17.

PMID:
23335589
14.

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
15.

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
16.

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
17.

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
18.
19.

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
20.

Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.

Wey M, Lee J, Jeong SS, Kim J, Heo J.

Biochemistry. 2013 Nov 26;52(47):8465-79. doi: 10.1021/bi400679q. Epub 2013 Nov 13.

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