Pilarski R - Search Results

1

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. Among authors: pilarski r. 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.

2

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. Among authors: pilarski r. 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.

3

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. Among authors: pilarski r. 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

4

Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

Sarquis MS, Agrawal S, Shen L, Pilarski R, Zhou XP, Eng C. Sarquis MS, et al. Among authors: pilarski r. Am J Hum Genet. 2006 Jul;79(1):23-30. doi: 10.1086/504392. Epub 2006 May 22. Am J Hum Genet. 2006. PMID: 16773562 Free PMC article.

5

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. Among authors: pilarski r. 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.

6

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.

7

Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.

Sweet K, Willis J, Zhou XP, Gallione C, Sawada T, Alhopuro P, Khoo SK, Patocs A, Martin C, Bridgeman S, Heinz J, Pilarski R, Lehtonen R, Prior TW, Frebourg T, Teh BT, Marchuk DA, Aaltonen LA, Eng C. Sweet K, et al. Among authors: pilarski r. JAMA. 2005 Nov 16;294(19):2465-73. doi: 10.1001/jama.294.19.2465. JAMA. 2005. PMID: 16287957

8

Phosphatase and tensin homolog immunohistochemical staining and clinical criteria for Cowden syndrome in patients with trichilemmoma or associated lesions.

Jin M, Hampel H, Pilarski R, Zhou X, Peters S, Frankel WL. Jin M, et al. Among authors: pilarski r. Am J Dermatopathol. 2013 Aug;35(6):637-40. doi: 10.1097/DAD.0b013e31827e28f7. Am J Dermatopathol. 2013. PMID: 23715080

9

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. Among authors: pilarski r. J Med Genet. 2005 Apr;42(4):318-21. doi: 10.1136/jmg.2004.024646. J Med Genet. 2005. PMID: 15805158 Free PMC article.

10

Unusual features in a patient with neurofibromatosis type 1: multiple subcutaneous lipomas, a juvenile polyp in ascending colon, congenital intrahepatic portosystemic venous shunt, and horseshoe kidney.

Oktenli C, Gul D, Deveci MS, Saglam M, Upadhyaya M, Thompson P, Consoli C, Kocar IH, Pilarski R, Zhou XP, Eng C. Oktenli C, et al. Among authors: pilarski r. Am J Med Genet A. 2004 Jun 15;127A(3):298-301. doi: 10.1002/ajmg.a.30008. Am J Med Genet A. 2004. PMID: 15150783

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