264 related articles for article (PubMed ID: 21344638)
1. 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. PubMed ID: 21344638
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
Levin MD; Saitta SC; Gripp KW; Wenger TL; Ganesh J; Kalish JM; Epstein MR; Smith R; Czosek RJ; Ware SM; Goldenberg P; Myers A; Chatfield KC; Gillespie MJ; Zackai EH; Lin AE
Am J Med Genet A; 2018 Aug; 176(8):1711-1722. PubMed ID: 30055033
[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. 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. PubMed ID: 24668879
[TBL] [Abstract][Full Text] [Related]
7. 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; 143A(13):1472-80. PubMed ID: 17551924
[TBL] [Abstract][Full Text] [Related]
8. Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.
Sheffield BS; Yip S; Ruchelli ED; Dunham CP; Sherwin E; Brooks PA; Sur A; Singh A; Human DG; Patel MS; Lee AF
Pediatr Dev Pathol; 2015; 18(3):237-44. PubMed ID: 25668678
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. [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]
12. 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]
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. PubMed ID: 22261753
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Costello syndrome model mice with a Hras
Katata Y; Inoue SI; Asao A; Kobayashi S; Terui H; Inoue-Shibui A; Abe T; Niihori T; Aiba S; Ishii N; Kure S; Aoki Y
Cell Death Dis; 2020 Aug; 11(8):617. PubMed ID: 32792500
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 20030748
[TBL] [Abstract][Full Text] [Related]
18. The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model.
García-Cruz R; Camats M; Calin GA; Liu CG; Volinia S; Taccioli C; Croce CM; Bach-Elias M
BMC Med Genet; 2015 Jul; 16():46. PubMed ID: 26138095
[TBL] [Abstract][Full Text] [Related]
19. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.
Tidyman WE; Rauen KA
Expert Rev Mol Med; 2008 Dec; 10():e37. PubMed ID: 19063751
[TBL] [Abstract][Full Text] [Related]
20. Costello syndrome and related disorders.
Quezada E; Gripp KW
Curr Opin Pediatr; 2007 Dec; 19(6):636-44. PubMed ID: 18025929
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]