Oh J - Search Results

1

The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes.

Oh J, Liu ZX, Feng GH, Raposo G, Spritz RA. Oh J, et al. Hum Mol Genet. 2000 Feb 12;9(3):375-85. doi: 10.1093/hmg/9.3.375. Hum Mol Genet. 2000. PMID: 10655547

2

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: oh j. Hum Mol Genet. 1995 Sep;4(9):1665-9. doi: 10.1093/hmg/4.9.1665. Hum Mol Genet. 1995. PMID: 8541858

3

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.

Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA. Oh J, et al. Nat Genet. 1996 Nov;14(3):300-6. doi: 10.1038/ng1196-300. Nat Genet. 1996. PMID: 8896559

4

Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.

Feng GH, Bailin T, Oh J, Spritz RA. Feng GH, et al. Among authors: oh j. Hum Mol Genet. 1997 May;6(5):793-7. doi: 10.1093/hmg/6.5.793. Hum Mol Genet. 1997. PMID: 9158155

5

Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.

Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Bailin T, et al. Among authors: oh j. J Invest Dermatol. 1997 Jun;108(6):923-7. doi: 10.1111/1523-1747.ep12294634. J Invest Dermatol. 1997. PMID: 9182823 Free 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. 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

Three new mutations in a gene causing Hermansky-Pudlak syndrome.

Spritz RA, Oh J. Spritz RA, et al. Among authors: oh j. Mol Genet Metab. 1998 Nov;65(3):254. doi: 10.1006/mgme.1998.2767. Mol Genet Metab. 1998. PMID: 9851892 No abstract available.

8

HPS gene mutations in Hermansky-Pudlak syndrome.

Spritz RA, Oh J. Spritz RA, et al. Among authors: oh j. Am J Hum Genet. 1999 Feb;64(2):658. doi: 10.1086/302257. Am J Hum Genet. 1999. PMID: 9973306 Free PMC article. No abstract available.

9

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro JR, Russo C, Uyama E, Vierimaa O, Spritz RA. Karim MA, et al. Among authors: oh j. Am J Med Genet. 2002 Feb 15;108(1):16-22. Am J Med Genet. 2002. PMID: 11857544

10

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: oh j. Am J Hum Genet. 1996 Sep;59(3):620-4. Am J Hum Genet. 1996. PMID: 8751863 Free PMC article.

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