Mester JL - Search Results

1

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.

Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS. Rivera-Muñoz EA, et al. Among authors: mester jl. Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645. Hum Mutat. 2018. PMID: 30311389 Free PMC article.

2

Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

Heald B, Mester J, Rybicki L, Orloff MS, Burke CA, Eng C. Heald B, et al. Gastroenterology. 2010 Dec;139(6):1927-33. doi: 10.1053/j.gastro.2010.06.061. Epub 2010 Jun 27. Gastroenterology. 2010. PMID: 20600018 Free PMC article.

3

Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome.

Bennett KL, Mester J, Eng C. Bennett KL, et al. JAMA. 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. JAMA. 2010. PMID: 21177507 Free PMC article.

4

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C. Tan MH, et al. Among authors: mester j. Am J Hum Genet. 2011 Jan 7;88(1):42-56. doi: 10.1016/j.ajhg.2010.11.013. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194675 Free PMC article.

5

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.

Mester JL, Tilot AK, Rybicki LA, Frazier TW 2nd, Eng C. Mester JL, et al. Eur J Hum Genet. 2011 Jul;19(7):763-8. doi: 10.1038/ejhg.2011.20. Epub 2011 Feb 23. Eur J Hum Genet. 2011. PMID: 21343951 Free PMC article.

6

Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.

Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C. Ngeow J, et al. J Clin Endocrinol Metab. 2011 Dec;96(12):E2063-71. doi: 10.1210/jc.2011-1616. Epub 2011 Sep 28. J Clin Endocrinol Metab. 2011. PMID: 21956414 Free PMC article.

7

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.

Ni Y, He X, Chen J, Moline J, Mester J, Orloff MS, Ringel MD, Eng C. Ni Y, et al. Hum Mol Genet. 2012 Jan 15;21(2):300-10. doi: 10.1093/hmg/ddr459. Epub 2011 Oct 6. Hum Mol Genet. 2012. PMID: 21979946 Free PMC article.

8

Lifetime cancer risks in individuals with germline PTEN mutations.

Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Tan MH, et al. Among authors: mester jl. Clin Cancer Res. 2012 Jan 15;18(2):400-7. doi: 10.1158/1078-0432.CCR-11-2283. Clin Cancer Res. 2012. PMID: 22252256 Free PMC article.

9

Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.

Hobert JA, Mester JL, Moline J, Eng C. Hobert JA, et al. Among authors: mester jl. Genet Med. 2012 Jun;14(6):616-9. doi: 10.1038/gim.2011.63. Epub 2012 Jan 26. Genet Med. 2012. PMID: 22261759 Free PMC article.

10

Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.

Mester JL, Zhou M, Prescott N, Eng C. Mester JL, et al. Urology. 2012 May;79(5):1187.e1-7. doi: 10.1016/j.urology.2011.12.025. Epub 2012 Mar 3. Urology. 2012. PMID: 22381246 Free PMC article.

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