Sims KB - Search Results

1

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.

2

Mutations in the Norrie disease gene.

Schuback DE, Chen ZY, Craig IW, Breakefield XO, Sims KB. Schuback DE, et al. Among authors: sims kb. Hum Mutat. 1995;5(4):285-92. doi: 10.1002/humu.1380050403. Hum Mutat. 1995. PMID: 7627181

3

The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.

Sims KB, Lebo RV, Benson G, Shalish C, Schuback D, Chen ZY, Bruns G, Craig IW, Golbus MS, Breakefield XO. Sims KB, et al. Hum Mol Genet. 1992 May;1(2):83-9. doi: 10.1093/hmg/1.2.83. Hum Mol Genet. 1992. PMID: 1301161

4

Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes.

Collins FA, Murphy DL, Reiss AL, Sims KB, Lewis JG, Freund L, Karoum F, Zhu D, Maumenee IH, Antonarakis SE. Collins FA, et al. Among authors: sims kb. Am J Med Genet. 1992 Jan 1;42(1):127-34. doi: 10.1002/ajmg.1320420126. Am J Med Genet. 1992. PMID: 1308352

5

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.

Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW. Chen ZY, et al. Nat Genet. 1993 Oct;5(2):180-3. doi: 10.1038/ng1093-180. Nat Genet. 1993. PMID: 8252044

6

Are MAO-A deficiency states in the general population and in putative high-risk populations highly uncommon?

Murphy DL, Sims K, Eisenhofer G, Greenberg BD, George T, Berlin F, Zametkin A, Ernst M, Breakefield XO. Murphy DL, et al. J Neural Transm Suppl. 1998;52:29-38. doi: 10.1007/978-3-7091-6499-0_4. J Neural Transm Suppl. 1998. PMID: 9564605

7

Characterization of a YAC containing part or all of the Norrie disease locus.

Chen ZY, Sims KB, Coleman M, Donnai D, Monaco A, Breakefield XO, Davies KE, Craig IW. Chen ZY, et al. Among authors: sims kb. Hum Mol Genet. 1992 Jun;1(3):161-4. doi: 10.1093/hmg/1.3.161. Hum Mol Genet. 1992. PMID: 1303171

8

Marked amine and amine metabolite changes in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase.

Murphy DL, Sims KB, Karoum F, de la Chapelle A, Norio R, Sankila EM, Breakefield XO. Murphy DL, et al. Among authors: sims kb. J Neurochem. 1990 Jan;54(1):242-7. doi: 10.1111/j.1471-4159.1990.tb13307.x. J Neurochem. 1990. PMID: 2293615

9

Molecular genetics of the monoamine oxidases.

Hsu YP, Powell JF, Sims KB, Breakefield XO. Hsu YP, et al. Among authors: sims kb. J Neurochem. 1989 Jul;53(1):12-8. doi: 10.1111/j.1471-4159.1989.tb07289.x. J Neurochem. 1989. PMID: 2656914 Review. No abstract available.

10

Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.

Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Klein C, et al. Among authors: sims kb. Genet Test. 1999;3(4):323-8. doi: 10.1089/gte.1999.3.323. Genet Test. 1999. PMID: 10627938

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