181 related articles for article (PubMed ID: 18039947)
1. 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]
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. 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. HRAS and the Costello syndrome.
Rauen KA
Clin Genet; 2007 Feb; 71(2):101-8. PubMed ID: 17250658
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Paternal bias in parental origin of HRAS mutations in Costello syndrome.
Sol-Church K; Stabley DL; Nicholson L; Gonzalez IL; Gripp KW
Hum Mutat; 2006 Aug; 27(8):736-41. PubMed ID: 16835863
[TBL] [Abstract][Full Text] [Related]
8. 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]
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. Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.
Kuniba H; Pooh RK; Sasaki K; Shimokawa O; Harada N; Kondoh T; Egashira M; Moriuchi H; Yoshiura K; Niikawa N
Am J Med Genet A; 2009 Feb; 149A(4):785-7. PubMed ID: 18642361
[No Abstract] [Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. [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]
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. 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]
17. HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
Estep AL; Tidyman WE; Teitell MA; Cotter PD; Rauen KA
Am J Med Genet A; 2006 Jan; 140(1):8-16. PubMed ID: 16372351
[TBL] [Abstract][Full Text] [Related]
18. Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome.
Smith LP; Podraza J; Proud VK
Am J Med Genet A; 2009 Feb; 149A(4):779-84. PubMed ID: 19288554
[TBL] [Abstract][Full Text] [Related]
19. 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]
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]
