180 related articles for article (PubMed ID: 33932139)
1. Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.
Qian W; Zhang M; Huang H; Chen Y; Park G; Zeng N; Li Y; Lu Q; Luo D
Mol Genet Genomic Med; 2021 Jun; 9(6):e1690. PubMed ID: 33932139
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
Lindsey-Temple S; Edwards M; Rickassel V; Nauth T; Rosenberger G
Eur J Hum Genet; 2022 Sep; 30(9):1088-1093. PubMed ID: 35764878
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
Frey T; Ivanovski I; Bahr A; Zweier M; Laube J; Luchsinger I; Steindl K; Rauch A
Am J Med Genet A; 2023 Aug; 191(8):2074-2082. PubMed ID: 37194190
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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. PubMed ID: 21834037
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling.
Liang J; Guo Y; Lu Z; Yu H; Wu L; Yao Z
J Dermatol; 2022 Jan; 49(1):161-164. PubMed ID: 34601768
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
