Nelson SF - Search Results

1

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center; Grody WW, Vilain E, Nelson SF. Arboleda VA, et al. Among authors: nelson sf. Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26. Am J Hum Genet. 2015. PMID: 25728775 Free PMC article.

2

A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11.

Ogdie MN, Macphie IL, Minassian SL, Yang M, Fisher SE, Francks C, Cantor RM, McCracken JT, McGough JJ, Nelson SF, Monaco AP, Smalley SL. Ogdie MN, et al. Among authors: nelson sf. Am J Hum Genet. 2003 May;72(5):1268-79. doi: 10.1086/375139. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687500 Free PMC article.

3

Replication of autism linkage: fine-mapping peak at 17q21.

Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, Alarcón M, Nelson SF, Geschwind DH. Cantor RM, et al. Among authors: nelson sf. Am J Hum Genet. 2005 Jun;76(6):1050-6. doi: 10.1086/430278. Epub 2005 Apr 1. Am J Hum Genet. 2005. PMID: 15877280 Free PMC article.

4

A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity.

Lee H, Jen JC, Wang H, Chen Z, Mamsa H, Sabatti C, Baloh RW, Nelson SF. Lee H, et al. Among authors: nelson sf. Hum Mol Genet. 2006 Jan 15;15(2):251-8. doi: 10.1093/hmg/ddi441. Epub 2005 Dec 5. Hum Mol Genet. 2006. PMID: 16330481

5

Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure.

Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E. Lacombe A, et al. Among authors: nelson sf. Am J Hum Genet. 2006 Jul;79(1):113-9. doi: 10.1086/505406. Epub 2006 May 26. Am J Hum Genet. 2006. PMID: 16773570 Free PMC article.

6

Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse.

Nikolova G, Lee H, Berkovitz S, Nelson S, Sinsheimer J, Vilain E, Rodríguez LV. Nikolova G, et al. Hum Genet. 2007 Feb;120(6):847-56. doi: 10.1007/s00439-006-0267-1. Epub 2006 Oct 5. Hum Genet. 2007. PMID: 17021862

7

A new episodic ataxia syndrome with linkage to chromosome 19q13.

Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. Kerber KA, et al. Among authors: nelson sf. Arch Neurol. 2007 May;64(5):749-52. doi: 10.1001/archneur.64.5.749. Arch Neurol. 2007. PMID: 17502476

8

Association of progesterone receptor with migraine-associated vertigo.

Lee H, Sininger L, Jen JC, Cha YH, Baloh RW, Nelson SF. Lee H, et al. Among authors: nelson sf. Neurogenetics. 2007 Aug;8(3):195-200. doi: 10.1007/s10048-007-0091-3. Epub 2007 Jul 3. Neurogenetics. 2007. PMID: 17609999

9

Phenotypic and genetic analysis of a large family with migraine-associated vertigo.

Lee H, Jen JC, Cha YH, Nelson SF, Baloh RW. Lee H, et al. Among authors: nelson sf. Headache. 2008 Nov-Dec;48(10):1460-7. doi: 10.1111/j.1526-4610.2007.01002.x. Epub 2007 Dec 11. Headache. 2008. PMID: 18081823 Free PMC article.

10

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH. Alarcón M, et al. Among authors: nelson sf. Am J Hum Genet. 2008 Jan;82(1):150-9. doi: 10.1016/j.ajhg.2007.09.005. Am J Hum Genet. 2008. PMID: 18179893 Free PMC article.

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