Pilarski RT - Search Results

1

Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q.

Pilarski RT, Brothman AR, Benn P, Shulman Rosengren S. Pilarski RT, et al. Am J Med Genet. 1999 Oct 8;86(4):321-4. doi: 10.1002/(sici)1096-8628(19991008)86:4<321::aid-ajmg4>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10494086

2

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Järvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. Zhou XP, et al. Am J Hum Genet. 2001 Oct;69(4):704-11. doi: 10.1086/323703. Epub 2001 Aug 30. Am J Hum Genet. 2001. PMID: 11536076 Free PMC article.

3

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C. Zhou XP, et al. Am J Hum Genet. 2003 Aug;73(2):404-11. doi: 10.1086/377109. Epub 2003 Jul 3. Am J Hum Genet. 2003. PMID: 12844284 Free PMC article.

4

Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome.

Pilarski R, Eng C. Pilarski R, et al. J Med Genet. 2004 May;41(5):323-6. doi: 10.1136/jmg.2004.018036. J Med Genet. 2004. PMID: 15121767 Free PMC article. Review. No abstract available.

5

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C. Butler MG, et al. J Med Genet. 2005 Apr;42(4):318-21. doi: 10.1136/jmg.2004.024646. J Med Genet. 2005. PMID: 15805158 Free PMC article.

6

Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.

Agrawal S, Pilarski R, Eng C. Agrawal S, et al. Hum Mol Genet. 2005 Aug 15;14(16):2459-68. doi: 10.1093/hmg/ddi246. Epub 2005 Jul 13. Hum Mol Genet. 2005. PMID: 16014636

7

A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.

Tekin M, Hişmi BO, Fitoz S, Yalçinkaya F, Ekim M, Kansu A, Ertem M, Deda G, Tutar E, Arsan S, Zhou XP, Pilarski R, Eng C, Akar N. Tekin M, et al. Am J Med Genet A. 2006 Jul 1;140(13):1472-5. doi: 10.1002/ajmg.a.31273. Am J Med Genet A. 2006. PMID: 16752378 No abstract available.

8

Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.

Pezzolesi MG, Li Y, Zhou XP, Pilarski R, Shen L, Eng C. Pezzolesi MG, et al. Am J Hum Genet. 2006 Nov;79(5):923-34. doi: 10.1086/508943. Epub 2006 Sep 29. Am J Hum Genet. 2006. PMID: 17033968 Free PMC article.

9

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW. Pilarski R, et al. J Med Genet. 2011 Aug;48(8):505-12. doi: 10.1136/jmg.2011.088807. Epub 2011 Jun 9. J Med Genet. 2011. PMID: 21659347

10

Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers.

Abdel-Rahman MH, Pilarski R, Cebulla CM, Massengill JB, Christopher BN, Boru G, Hovland P, Davidorf FH. Abdel-Rahman MH, et al. J Med Genet. 2011 Dec;48(12):856-9. doi: 10.1136/jmedgenet-2011-100156. Epub 2011 Sep 22. J Med Genet. 2011. PMID: 21941004 Free PMC article.

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