135 related articles for article (PubMed ID: 31680412)
21. Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
Robbins KM; Stabley DL; Holbrook J; Sahraoui R; Sadreameli A; Conard K; Baker L; Gripp KW; Sol-Church K
Am J Med Genet A; 2016 Dec; 170(12):3197-3206. PubMed ID: 27589201
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. 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]
26. 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]
27. 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]
28. MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model.
Tidyman WE; Goodwin AF; Maeda Y; Klein OD; Rauen KA
Dis Model Mech; 2022 Feb; 15(2):. PubMed ID: 34553752
[TBL] [Abstract][Full Text] [Related]
29. Syndrome in question. Costello syndrome.
Peixoto IL; Carreno AM; Prazeres VM; Chirano CA; Ihara GM; Akel PB
An Bras Dermatol; 2014; 89(6):1005-6. PubMed ID: 25387514
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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]
32. Neurocognitive, adaptive, and behavioral functioning of individuals with Costello syndrome: a review.
Axelrad ME; Schwartz DD; Katzenstein JM; Hopkins E; Gripp KW
Am J Med Genet C Semin Med Genet; 2011 May; 157C(2):115-22. PubMed ID: 21495179
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.
Gripp KW; Baker L; Robbins KM; Stabley DL; Bellus GA; Kolbe V; Nauth T; Rosenberger G
Eur J Hum Genet; 2020 Nov; 28(11):1548-1554. PubMed ID: 32499600
[TBL] [Abstract][Full Text] [Related]
35. Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
Nagai K; Niihori T; Okamoto N; Kondo A; Suga K; Ohhira T; Hayabuchi Y; Homma Y; Nakagawa R; Ifuku T; Abe T; Mizuguchi T; Matsumoto N; Aoki Y
Hum Mutat; 2022 Jan; 43(1):3-15. PubMed ID: 34618388
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
Gripp KW; Hopkins E; Doyle D; Dobyns WB
Am J Med Genet A; 2010 May; 152A(5):1161-8. PubMed ID: 20425820
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. [A pathogenic variation of HRAS gene causing Costello syndrome: a Ras/MAPK pathway syndrome].
Li XQ; Li WJ; Gong CX
Zhonghua Er Ke Za Zhi; 2019 Dec; 57(12):959-960. PubMed ID: 31795565
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
