Spritz RA - Search Results

1

A genomewide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci.

Fain PR, Gowan K, LaBerge GS, Alkhateeb A, Stetler GL, Talbert J, Bennett DC, Spritz RA. Fain PR, et al. Among authors: spritz ra. Am J Hum Genet. 2003 Jun;72(6):1560-4. doi: 10.1086/375451. Epub 2003 Apr 18. Am J Hum Genet. 2003. PMID: 12707860 Free PMC article.

2

Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

Spritz RA, Giebel LB, Holmes SA. Spritz RA, et al. Am J Hum Genet. 1992 Feb;50(2):261-9. Am J Hum Genet. 1992. PMID: 1370874 Free PMC article.

3

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P. Spritz RA, et al. Am J Hum Genet. 1992 Nov;51(5):1058-65. Am J Hum Genet. 1992. PMID: 1384325 Free PMC article.

4

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.

Fukai K, Oh J, Frenk E, Almodóvar C, Spritz RA. Fukai K, et al. Among authors: spritz ra. Hum Mol Genet. 1995 Sep;4(9):1665-9. doi: 10.1093/hmg/4.9.1665. Hum Mol Genet. 1995. PMID: 8541858

5

Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).

Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito H, Bürger J, Spritz RA. Fukai K, et al. Among authors: spritz ra. Am J Hum Genet. 1996 Sep;59(3):620-4. Am J Hum Genet. 1996. PMID: 8751863 Free PMC article.

6

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong CT, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA. Oh J, et al. Among authors: spritz ra. Am J Hum Genet. 1998 Mar;62(3):593-8. doi: 10.1086/301757. Am J Hum Genet. 1998. PMID: 9497254 Free PMC article.

7

A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13.

Ho L, Williams MS, Spritz RA. Ho L, et al. Among authors: spritz ra. Am J Hum Genet. 1998 May;62(5):1102-6. doi: 10.1086/301839. Am J Hum Genet. 1998. PMID: 9545409 Free PMC article.

8

Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.

Suzuki K, Bustos T, Spritz RA. Suzuki K, et al. Among authors: spritz ra. Am J Hum Genet. 1998 Oct;63(4):1102-7. doi: 10.1086/302072. Am J Hum Genet. 1998. PMID: 9758630 Free PMC article.

9

The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.

Suzuki T, Li W, Zhang Q, Novak EK, Sviderskaya EV, Wilson A, Bennett DC, Roe BA, Swank RT, Spritz RA. Suzuki T, et al. Among authors: spritz ra. Genomics. 2001 Nov;78(1-2):30-7. doi: 10.1006/geno.2001.6644. Genomics. 2001. PMID: 11707070

10

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.

Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA. Suzuki T, et al. Among authors: spritz ra. Nat Genet. 2002 Mar;30(3):321-4. doi: 10.1038/ng835. Epub 2002 Feb 11. Nat Genet. 2002. PMID: 11836498

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