Sims K - Search Results

1

Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ. Dabora SL, et al. Among authors: sims k. Am J Hum Genet. 2002 Oct;71(4):750-8. doi: 10.1086/342718. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192641 Free PMC article.

2

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

Niida Y, Stemmer-Rachamimov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacCollin M, Louis DN, Ramesh V. Niida Y, et al. Among authors: sims k. Am J Hum Genet. 2001 Sep;69(3):493-503. doi: 10.1086/321972. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468687 Free PMC article.

3

Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.

Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AMW, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJJ, Andermann E. Jansen AC, et al. Among authors: sims k. Ann Neurol. 2006 Nov;60(5):528-539. doi: 10.1002/ana.21037. Ann Neurol. 2006. PMID: 17120248

4

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L. Niida Y, et al. Among authors: sims k. Hum Mutat. 1999;14(5):412-22. doi: 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10533067

5

Screen for MAOA mutations in target human groups.

Schuback DE, Mulligan EL, Sims KB, Tivol EA, Greenberg BD, Chang SF, Yang SL, Mau YC, Shen CY, Ho MS, Yang NH, Butler MG, Fink S, Schwartz CE, Berlin F, Breakefield XO, Murphy DL, Hsu YP. Schuback DE, et al. Among authors: sims kb. Am J Med Genet. 1999 Feb 5;88(1):25-8. Am J Med Genet. 1999. PMID: 10050962 Free PMC article.

6

Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.

Rehm HL, Gutiérrez-Espeleta GA, Garcia R, Jiménez G, Khetarpal U, Priest JM, Sims KB, Keats BJ, Morton CC. Rehm HL, et al. Among authors: sims kb. Hum Mutat. 1997;9(5):402-8. doi: 10.1002/(SICI)1098-1004(1997)9:5<402::AID-HUMU4>3.0.CO;2-5. Hum Mutat. 1997. PMID: 9143918

7

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. Staropoli JF, et al. Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28. Am J Hum Genet. 2012. PMID: 22748208 Free PMC article.

8

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

Beauchamp RL, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, Sims K, Ozelius L, Ramesh V. Beauchamp RL, et al. Among authors: sims k. Hum Mutat. 1998;12(6):408-16. doi: 10.1002/(SICI)1098-1004(1998)12:6<408::AID-HUMU7>3.0.CO;2-P. Hum Mutat. 1998. PMID: 9829910

9

Norrie disease gene is distinct from the monoamine oxidase genes.

Sims KB, Ozelius L, Corey T, Rinehart WB, Liberfarb R, Haines J, Chen WJ, Norio R, Sankila E, de la Chapelle A, et al. Sims KB, et al. Am J Hum Genet. 1989 Sep;45(3):424-34. Am J Hum Genet. 1989. PMID: 2773935 Free PMC article.

10

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, Crystal RG, Reinhardt P, Sterneckert J, Schöler H, Haggarty SJ, Storch A, Hermann A, Cotman SL. Lojewski X, et al. Among authors: sims kb. Hum Mol Genet. 2014 Apr 15;23(8):2005-22. doi: 10.1093/hmg/ddt596. Epub 2013 Nov 23. Hum Mol Genet. 2014. PMID: 24271013 Free PMC article.

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