These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
88 related articles for article (PubMed ID: 20636395)
1. Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome? Vilain RE; Dudding T; Braye SG; Groombridge C; Meldrum C; Spigelman AD; Ackland S; Ashman L; Scott RJ Clin Genet; 2011 Jun; 79(6):554-60. PubMed ID: 20636395 [TBL] [Abstract][Full Text] [Related]
2. Familial gastrointestinal stromal tumors caused by the novel KIT exon 17 germline mutation N822Y. Thalheimer A; Schlemmer M; Bueter M; Merkelbach-Bruse S; Schildhaus HU; Buettner R; Hartung E; Thiede A; Meyer D; Fein M; Maroske J; Wardelmann E Am J Surg Pathol; 2008 Oct; 32(10):1560-5. PubMed ID: 18724244 [TBL] [Abstract][Full Text] [Related]
3. Multiple gastrointestinal stromal tumors: Clinicopathologic and genetic analysis of 12 patients. Kang DY; Park CK; Choi JS; Jin SY; Kim HJ; Joo M; Kang MS; Moon WS; Yun KJ; Yu ES; Kang H; Kim KM Am J Surg Pathol; 2007 Feb; 31(2):224-32. PubMed ID: 17255767 [TBL] [Abstract][Full Text] [Related]
4. Familial gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred. Li FP; Fletcher JA; Heinrich MC; Garber JE; Sallan SE; Curiel-Lewandrowski C; Duensing A; van de Rijn M; Schnipper LE; Demetri GD J Clin Oncol; 2005 Apr; 23(12):2735-43. PubMed ID: 15837988 [TBL] [Abstract][Full Text] [Related]
6. Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. de Raedt T; Cools J; Debiec-Rychter M; Brems H; Mentens N; Sciot R; Himpens J; de Wever I; Schöffski P; Marynen P; Legius E Gastroenterology; 2006 Dec; 131(6):1907-12. PubMed ID: 17087943 [TBL] [Abstract][Full Text] [Related]
7. Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women. Kuroda N; Tanida N; Hirota S; Daum O; Hes O; Michal M; Lee GH Ann Diagn Pathol; 2011 Oct; 15(5):358-61. PubMed ID: 20952281 [TBL] [Abstract][Full Text] [Related]
9. Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family. Lalwani AK; Attaie A; Randolph FT; Deshmukh D; Wang C; Mhatre A; Wilcox E Am J Med Genet; 1998 Dec; 80(4):406-9. PubMed ID: 9856573 [TBL] [Abstract][Full Text] [Related]
10. Review and update of mutations causing Waardenburg syndrome. Pingault V; Ente D; Dastot-Le Moal F; Goossens M; Marlin S; Bondurand N Hum Mutat; 2010 Apr; 31(4):391-406. PubMed ID: 20127975 [TBL] [Abstract][Full Text] [Related]
11. [Atypical manifestations in familial type 1 Waardenburg syndrome]. Sans B; Calvas P; Bazex J Ann Dermatol Venereol; 1998 Jan; 125(1):37-41. PubMed ID: 9747206 [TBL] [Abstract][Full Text] [Related]
12. PDGFRalpha- and c-kit-mutated gastrointestinal stromal tumours (GISTs) are characterized by distinctive histological and immunohistochemical features. Pauls K; Merkelbach-Bruse S; Thal D; Büttner R; Wardelmann E Histopathology; 2005 Feb; 46(2):166-75. PubMed ID: 15693889 [TBL] [Abstract][Full Text] [Related]
13. Minute gastric sclerosing stromal tumors (GIST tumorlets) are common in adults and frequently show c-KIT mutations. Agaimy A; Wünsch PH; Hofstaedter F; Blaszyk H; Rümmele P; Gaumann A; Dietmaier W; Hartmann A Am J Surg Pathol; 2007 Jan; 31(1):113-20. PubMed ID: 17197927 [TBL] [Abstract][Full Text] [Related]
14. Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. Chaoui A; Watanabe Y; Touraine R; Baral V; Goossens M; Pingault V; Bondurand N Hum Mutat; 2011 Dec; 32(12):1436-49. PubMed ID: 21898658 [TBL] [Abstract][Full Text] [Related]
15. A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis. Neuhann TM; Mansmann V; Merkelbach-Bruse S; Klink B; Hellinger A; Höffkes HG; Wardelmann E; Schildhaus HU; Tinschert S Am J Surg Pathol; 2013 Jun; 37(6):898-905. PubMed ID: 23598963 [TBL] [Abstract][Full Text] [Related]
16. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Pasini B; McWhinney SR; Bei T; Matyakhina L; Stergiopoulos S; Muchow M; Boikos SA; Ferrando B; Pacak K; Assie G; Baudin E; Chompret A; Ellison JW; Briere JJ; Rustin P; Gimenez-Roqueplo AP; Eng C; Carney JA; Stratakis CA Eur J Hum Genet; 2008 Jan; 16(1):79-88. PubMed ID: 17667967 [TBL] [Abstract][Full Text] [Related]