148 related articles for article (PubMed ID: 23429430)
1. Assessing genotype-phenotype correlation in Costello syndrome using a severity score.
McCormick EM; Hopkins E; Conway L; Catalano S; Hossain J; Sol-Church K; Stabley DL; Gripp KW
Genet Med; 2013 Jul; 15(7):554-7. PubMed ID: 23429430
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. PubMed ID: 28371260
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 25914166
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 21438134
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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. PubMed ID: 26888048
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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. PubMed ID: 28027064
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22261753
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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. PubMed ID: 28337834
[TBL] [Abstract][Full Text] [Related]
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; 22(8):1643-53. PubMed ID: 23335589
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 28328122
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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. PubMed ID: 20979192
[TBL] [Abstract][Full Text] [Related]
17. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
Gripp KW; Robbins KM; Sheffield BS; Lee AF; Patel MS; Yip S; Doyle D; Stabley D; Sol-Church K
Am J Med Genet A; 2016 Mar; 170(3):559-64. PubMed ID: 26572961
[TBL] [Abstract][Full Text] [Related]
18. Behavioral phenotype in Costello syndrome with atypical mutation: a case report.
Alfieri P; Caciolo C; Piccini G; D'Elia L; Valeri G; Menghini D; Tartaglia M; Digilio MC; Dallapiccola B; Vicari S
Am J Med Genet B Neuropsychiatr Genet; 2015 Jan; 168B(1):66-71. PubMed ID: 25367099
[TBL] [Abstract][Full Text] [Related]
19. The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
Hartung AM; Swensen J; Uriz IE; Lapin M; Kristjansdottir K; Petersen US; Bang JM; Guerra B; Andersen HS; Dobrowolski SF; Carey JC; Yu P; Vaughn C; Calhoun A; Larsen MR; Dyrskjøt L; Stevenson DA; Andresen BS
PLoS Genet; 2016 May; 12(5):e1006039. PubMed ID: 27195699
[TBL] [Abstract][Full Text] [Related]
20. 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; 146A(6):683-90. PubMed ID: 18247425
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
