165 related articles for article (PubMed ID: 20658932)
1. Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.
Sinico M; Bassez G; Touboul C; Cavé H; Vergnaud A; Zirah C; Fleury-Feith J; Gettler S; Vojtek AM; Chevalier N; Amram D; Alsamad IA; Haddad B; Encha-Razavi F
Pediatr Dev Pathol; 2011; 14(3):218-23. PubMed ID: 20658932
[TBL] [Abstract][Full Text] [Related]
2. Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.
Quélin C; Loget P; Rozel C; D'Hervé D; Fradin M; Demurger F; Odent S; Pasquier L; Cavé H; Marcorelles P
Eur J Med Genet; 2017 Jul; 60(7):395-398. PubMed ID: 28455154
[TBL] [Abstract][Full Text] [Related]
3. Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation.
van der Burgt I; Kupsky W; Stassou S; Nadroo A; Barroso C; Diem A; Kratz CP; Dvorsky R; Ahmadian MR; Zenker M
J Med Genet; 2007 Jul; 44(7):459-62. PubMed ID: 17412879
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 21850009
[TBL] [Abstract][Full Text] [Related]
5. [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. PubMed ID: 21885263
[TBL] [Abstract][Full Text] [Related]
6. 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; 22(8):1643-53. PubMed ID: 23335589
[TBL] [Abstract][Full Text] [Related]
7. 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; 157C(2):104-14. PubMed ID: 21495178
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 25914166
[TBL] [Abstract][Full Text] [Related]
9. [Molecular genetic diagnostics in syndromes associated with the RAS/MAPK signalling pathway].
Molven A; Søvik O; von der Lippe C; Steine SJ; Njølstad PR; Houge G; Prescott TE
Tidsskr Nor Laegeforen; 2009 Nov; 129(22):2358-61. PubMed ID: 19935936
[TBL] [Abstract][Full Text] [Related]
10. Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.
Lee ST; Ki CS; Lee HJ
Clin Genet; 2007 Aug; 72(2):150-5. PubMed ID: 17661820
[TBL] [Abstract][Full Text] [Related]
11. Increased sleep spindle activity in patients with Costello syndrome (HRAS gene mutation).
Della Marca G; Leoni C; Dittoni S; Battaglia D; Losurdo A; Testani E; Colicchio S; Gnoni V; Gambardella ML; Mariotti P; Alfieri P; Tartaglia M; Zampino G
J Clin Neurophysiol; 2011 Jun; 28(3):314-8. PubMed ID: 21633259
[TBL] [Abstract][Full Text] [Related]
12. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
Kerr B; Delrue MA; Sigaudy S; Perveen R; Marche M; Burgelin I; Stef M; Tang B; Eden OB; O'Sullivan J; De Sandre-Giovannoli A; Reardon W; Brewer C; Bennett C; Quarell O; M'Cann E; Donnai D; Stewart F; Hennekam R; Cavé H; Verloes A; Philip N; Lacombe D; Levy N; Arveiler B; Black G
J Med Genet; 2006 May; 43(5):401-5. PubMed ID: 16443854
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 25677562
[TBL] [Abstract][Full Text] [Related]
14. HRAS and the Costello syndrome.
Rauen KA
Clin Genet; 2007 Feb; 71(2):101-8. PubMed ID: 17250658
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 22926243
[TBL] [Abstract][Full Text] [Related]
16. Severe neonatal manifestations of Costello syndrome.
Lo IF; Brewer C; Shannon N; Shorto J; Tang B; Black G; Soo MT; Ng DK; Lam ST; Kerr B
J Med Genet; 2008 Mar; 45(3):167-71. PubMed ID: 18039947
[TBL] [Abstract][Full Text] [Related]
17. Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level.
Zhang H; Ye J; Gu X
Biochem Genet; 2009 Dec; 47(11-12):868-72. PubMed ID: 19669404
[No Abstract] [Full Text] [Related]
18. 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. PubMed ID: 22261753
[TBL] [Abstract][Full Text] [Related]
19. Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.
Denayer E; Parret A; Chmara M; Schubbert S; Vogels A; Devriendt K; Frijns JP; Rybin V; de Ravel TJ; Shannon K; Cools J; Scheffzek K; Legius E
Hum Mutat; 2008 Feb; 29(2):232-9. PubMed ID: 17979197
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 28139825
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
