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Literature DB >> 10678668

Second case of bladder carcinoma in a patient with Costello syndrome.

K W Gripp, C I Scott, L Nicholson, T E Figueroa.

Abstract

Entities: Disease Species

Mesh：

Year: 2000 PMID： 10678668 DOI： 10.1002/(sici)1096-8628(20000131)90:3<256::aid-ajmg16>3.0.co;2-d

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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10 in total

Review 1. 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.

Authors: Karen W Gripp; Elizabeth Hopkins; Daniel Doyle; William B Dobyns
Journal: Am J Med Genet A Date: 2010-05 Impact factor: 2.802

2. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

Authors: B Kerr; M-A Delrue; S Sigaudy; R Perveen; M Marche; I Burgelin; M Stef; B Tang; O B Eden; J O'Sullivan; A De Sandre-Giovannoli; W Reardon; C Brewer; C Bennett; O Quarell; E M'Cann; D Donnai; F Stewart; R Hennekam; H Cavé; A Verloes; N Philip; D Lacombe; N Levy; B Arveiler; G Black
Journal: J Med Genet Date: 2006-01-27 Impact factor: 6.318

3. Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Authors: Karen W Gripp; Lindsey A Morse; Marni Axelrad; Kathryn C Chatfield; Aaron Chidekel; William Dobyns; Daniel Doyle; Bronwyn Kerr; Angela E Lin; David D Schwartz; Barbara J Sibbles; Dawn Siegel; Suma P Shankar; David A Stevenson; Mihir M Thacker; K Nicole Weaver; Sue M White; Katherine A Rauen
Journal: Am J Med Genet A Date: 2019-06-20 Impact factor: 2.802

4. Hyperactivation of Ha-ras oncogene, but not Ink4a/Arf deficiency, triggers bladder tumorigenesis.

Authors: Lan Mo; Xiaoyong Zheng; Hong-Ying Huang; Ellen Shapiro; Herbert Lepor; Carlos Cordon-Cardo; Tung-Tien Sun; Xue-Ru Wu
Journal: J Clin Invest Date: 2007-01-25 Impact factor: 14.808

5. Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

Authors: Angela E Lin; Barbara O'Brien; Laurie A Demmer; Kristina K Almeda; Cynthia L Blanco; Patrick F Glasow; Charles I Berul; Robert Hamilton; A Micheil Innes; Julie L Lauzon; Katia Sol-Church; Karen W Gripp
Journal: Prenat Diagn Date: 2009-07 Impact factor: 3.050

6. Maintenance of the bladder cancer precursor urothelial hyperplasia requires FOXA1 and persistent expression of oncogenic HRAS.

Authors: Christopher H Yee; Zongyu Zheng; Lauren Shuman; Hironobu Yamashita; Joshua I Warrick; Xue-Ru Wu; Jay D Raman; David J DeGraff
Journal: Sci Rep Date: 2019-01-22 Impact factor: 4.379

Second case of bladder carcinoma in a patient with Costello syndrome.

Review 1. 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.

2. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

3. Costello syndrome: Clinical phenotype, genotype, and management guidelines.

4. Hyperactivation of Ha-ras oncogene, but not Ink4a/Arf deficiency, triggers bladder tumorigenesis.

5. Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

6. Maintenance of the bladder cancer precursor urothelial hyperplasia requires FOXA1 and persistent expression of oncogenic HRAS.

Review 7. Biology of urothelial tumorigenesis: insights from genetically engineered mice.

Review 8. Urothelial bladder tumour in childhood: A report of two cases and a review.

9. Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation.

Review 10. The impact of RASopathy-associated mutations on CNS development in mice and humans.