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222 results
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Multi-organellar disorders of pigmentation: tied up in traffic.
Spritz RA. Spritz RA. Clin Genet. 1999 May;55(5):309-17. doi: 10.1034/j.1399-0004.1999.550503.x. Clin Genet. 1999. PMID: 10422800 Review. No abstract available.
Piebaldism with deafness: molecular evidence for an expanded syndrome.
Spritz RA, Beighton P. Spritz RA, et al. Am J Med Genet. 1998 Jan 6;75(1):101-3. doi: 10.1002/(sici)1096-8628(19980106)75:1<101::aid-ajmg20>;2-p. Am J Med Genet. 1998. PMID: 9450866
Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus.
Oh J, LeCras TD, Spritz RA. Oh J, et al. Among authors: spritz ra. Mamm Genome. 2001 Jun;12(6):466-8. doi: 10.1007/s003350020046. Mamm Genome. 2001. PMID: 11353395 No abstract available.
Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast.
Spritz RA. Spritz RA. Trends Genet. 1999 Sep;15(9):337-40. doi: 10.1016/s0168-9525(99)01785-0. Trends Genet. 1999. PMID: 10461199 Review.
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. Among authors: spritz ra. Hum Mol Genet. 2000 Feb 12;9(3):375-85. doi: 10.1093/hmg/9.3.375. Hum Mol Genet. 2000. PMID: 10655547
The genetics and epigenetics of orofacial clefts.
Spritz RA. Spritz RA. Curr Opin Pediatr. 2001 Dec;13(6):556-60. doi: 10.1097/00008480-200112000-00011. Curr Opin Pediatr. 2001. PMID: 11753106 Review.
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.
Sözen MA, Suzuki K, Tolarova MM, Bustos T, Fernández Iglesias JE, Spritz RA. Sözen MA, et al. Among authors: spritz ra. Nat Genet. 2001 Oct;29(2):141-2. doi: 10.1038/ng740. Nat Genet. 2001. PMID: 11559849
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA. Suzuki K, et al. Among authors: spritz ra. Nat Genet. 2000 Aug;25(4):427-30. doi: 10.1038/78119. Nat Genet. 2000. PMID: 10932188
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. Among authors: spritz ra. Nat Genet. 1996 Nov;14(3):300-6. doi: 10.1038/ng1196-300. Nat Genet. 1996. PMID: 8896559
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
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