Middelton LA - Search Results

1

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

Jackson CE, Fischer RE, Hsu AP, Anderson SM, Choi Y, Wang J, Dale JK, Fleisher TA, Middelton LA, Sneller MC, Lenardo MJ, Straus SE, Puck JM. Jackson CE, et al. Among authors: middelton la. Am J Hum Genet. 1999 Apr;64(4):1002-14. doi: 10.1086/302333. Am J Hum Genet. 1999. PMID: 10090885 Free PMC article.

2

Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.

Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y, Fleisher TA, Lim MS, Jaffe ES, Puck JM, Lenardo MJ, Straus SE. Sneller MC, et al. Among authors: middelton la. Blood. 1997 Feb 15;89(4):1341-8. Blood. 1997. PMID: 9028957 Free article.

3

Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.

Puck JM, Middelton L, Pepper AE. Puck JM, et al. Hum Genet. 1997 May;99(5):628-33. doi: 10.1007/s004390050418. Hum Genet. 1997. PMID: 9150730

4

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.

Infante AJ, Britton HA, DeNapoli T, Middelton LA, Lenardo MJ, Jackson CE, Wang J, Fleisher T, Straus SE, Puck JM. Infante AJ, et al. Among authors: middelton la. J Pediatr. 1998 Nov;133(5):629-33. doi: 10.1016/s0022-3476(98)70102-7. J Pediatr. 1998. PMID: 9821419

5

Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.

Crooks DR, Cawthon GM, Fitzsimmons CM, Perez M, Ricketts CJ, Vocke CD, Yang Y, Middelton L, Nielsen D, Schmidt LS, Tandon M, Merino MJ, Ball MW, Meier JL, Batista PJ, Linehan WM. Crooks DR, et al. Hum Mol Genet. 2023 Nov 3;32(22):3135-3145. doi: 10.1093/hmg/ddad131. Hum Mol Genet. 2023. PMID: 37561409

6

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.

Wei MH, Toure O, Glenn GM, Pithukpakorn M, Neckers L, Stolle C, Choyke P, Grubb R, Middelton L, Turner ML, Walther MM, Merino MJ, Zbar B, Linehan WM, Toro JR. Wei MH, et al. J Med Genet. 2006 Jan;43(1):18-27. doi: 10.1136/jmg.2005.033506. Epub 2005 Jun 3. J Med Genet. 2006. PMID: 15937070 Free PMC article.

7

Genes and inheritance.

Middelton LA, Peters KF, Helmbold EA. Middelton LA, et al. Cancer Nurs. 1997 Apr;20(2):129-47; quiz 148-51. doi: 10.1097/00002820-199704000-00008. Cancer Nurs. 1997. PMID: 9145562 Review.

8

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.

Farley MN, Schmidt LS, Mester JL, Pena-Llopis S, Pavia-Jimenez A, Christie A, Vocke CD, Ricketts CJ, Peterson J, Middelton L, Kinch L, Grishin N, Merino MJ, Metwalli AR, Xing C, Xie XJ, Dahia PLM, Eng C, Linehan WM, Brugarolas J. Farley MN, et al. Mol Cancer Res. 2013 Sep;11(9):1061-1071. doi: 10.1158/1541-7786.MCR-13-0111. Epub 2013 May 24. Mol Cancer Res. 2013. PMID: 23709298 Free PMC article.

9

Genes and inheritance.

Middelton LA, Peters KF. Middelton LA, et al. Cancer Nurs. 2001 Oct;24(5):357-69; quiz 369-70. doi: 10.1097/00002820-200110000-00006. Cancer Nurs. 2001. PMID: 11605706 Review.

10

Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.

Shuch B, Ricketts CJ, Vocke CD, Komiya T, Middelton LA, Kauffman EC, Merino MJ, Metwalli AR, Dennis P, Linehan WM. Shuch B, et al. Among authors: middelton la. J Urol. 2013 Dec;190(6):1990-8. doi: 10.1016/j.juro.2013.06.012. Epub 2013 Jun 11. J Urol. 2013. PMID: 23764071 Free PMC article.

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