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Items: 1 to 20 of 28

1.

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. doi: 10.1097/PAS.0b013e318172ce6f.

PMID:
18724244
2.

Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation.

Woźniak A, Rutkowski P, Sciot R, Ruka W, Michej W, Debiec-Rychter M.

Int J Cancer. 2008 May 1;122(9):2160-4. doi: 10.1002/ijc.23338.

3.

Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor.

Kleinbaum EP, Lazar AJ, Tamborini E, Mcauliffe JC, Sylvestre PB, Sunnenberg TD, Strong L, Chen LL, Choi H, Benjamin RS, Zhang W, Trent JC.

Int J Cancer. 2008 Feb 1;122(3):711-8.

4.

Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation.

Graham J, Debiec-Rychter M, Corless CL, Reid R, Davidson R, White JD.

Arch Pathol Lab Med. 2007 Sep;131(9):1393-6.

PMID:
17824795
5.

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. Epub 2007 Aug 1.

6.

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.

PMID:
17255767
7.

Gastrointestinal stromal tumor (GIST) pathogenesis, familial GIST, and animal models.

Antonescu CR.

Semin Diagn Pathol. 2006 May;23(2):63-9. Review.

PMID:
17193819
8.

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.

PMID:
17087943
9.

A new familial GIST identified.

Lasota J, Miettinen M.

Am J Surg Pathol. 2006 Oct;30(10):1342. No abstract available. Erratum in: Am J Surg Pathol. 2007 May;31(5):816.

PMID:
17001171
10.

Platelet-derived growth factor receptor family mutations in gastrointestinal stromal tumours.

Sihto H, Franssila K, Tanner M, Vasama-Nolvi C, Sarlomo-Rikala M, Nupponen NN, Joensuu H, Isola J.

Scand J Gastroenterol. 2006 Jul;41(7):805-11.

PMID:
16785193
11.

Gastrointestinal stromal tumors: insights from a new familial GIST kindred with unusual genetic and pathologic features.

O'Riain C, Corless CL, Heinrich MC, Keegan D, Vioreanu M, Maguire D, Sheahan K.

Am J Surg Pathol. 2005 Dec;29(12):1680-3.

PMID:
16327443
12.

Multiple gastrointestinal stromal tumors with a germline c-kit mutation.

Kim HJ, Lim SJ, Park K, Yuh YJ, Jang SJ, Choi J.

Pathol Int. 2005 Oct;55(10):655-9.

PMID:
16185297
13.

Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis.

Hartmann K, Wardelmann E, Ma Y, Merkelbach-Bruse S, Preussner LM, Woolery C, Baldus SE, Heinicke T, Thiele J, Buettner R, Longley BJ.

Gastroenterology. 2005 Sep;129(3):1042-6.

PMID:
16143141
14.

Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling.

Tarn C, Merkel E, Canutescu AA, Shen W, Skorobogatko Y, Heslin MJ, Eisenberg B, Birbe R, Patchefsky A, Dunbrack R, Arnoletti JP, von Mehren M, Godwin AK.

Clin Cancer Res. 2005 May 15;11(10):3668-77.

15.

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 20;23(12):2735-43.

PMID:
15837988
16.

Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation.

Carballo M, Roig I, Aguilar F, Pol MA, Gamundi MJ, Hernan I, Martinez-Gimeno M.

Am J Med Genet A. 2005 Feb 1;132A(4):361-4.

PMID:
15742474
17.

Biology of gastrointestinal stromal tumors.

Corless CL, Fletcher JA, Heinrich MC.

J Clin Oncol. 2004 Sep 15;22(18):3813-25. Review.

PMID:
15365079
18.

Gene expression in gastrointestinal stromal tumors is distinguished by KIT genotype and anatomic site.

Antonescu CR, Viale A, Sarran L, Tschernyavsky SJ, Gonen M, Segal NH, Maki RG, Socci ND, DeMatteo RP, Besmer P.

Clin Cancer Res. 2004 May 15;10(10):3282-90.

19.

Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia.

Robson ME, Glogowski E, Sommer G, Antonescu CR, Nafa K, Maki RG, Ellis N, Besmer P, Brennan M, Offit K.

Clin Cancer Res. 2004 Feb 15;10(4):1250-4.

20.

PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.

Chompret A, Kannengiesser C, Barrois M, Terrier P, Dahan P, Tursz T, Lenoir GM, Bressac-De Paillerets B.

Gastroenterology. 2004 Jan;126(1):318-21.

PMID:
14699510

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