Gahl WA - Search Results

1

Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome.

Tang J, Tsilou E, Caruso RC, Rubin B, Gahl WA. Tang J, et al. Among authors: gahl wa. Retina. 2005 Jan;25(1):99-100. doi: 10.1097/00006982-200501000-00019. Retina. 2005. PMID: 15655453 No abstract available.

2

A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis.

Kaiser-Kupfer MI, Gazzo MA, Datiles MB, Caruso RC, Kuehl EM, Gahl WA. Kaiser-Kupfer MI, et al. Among authors: gahl wa. Arch Ophthalmol. 1990 May;108(5):689-93. doi: 10.1001/archopht.1990.01070070075038. Arch Ophthalmol. 1990. PMID: 2185723 Clinical Trial.

3

Long-term ocular manifestations in nephropathic cystinosis.

Kaiser-Kupfer MI, Caruso RC, Minkler DS, Gahl WA. Kaiser-Kupfer MI, et al. Among authors: gahl wa. Arch Ophthalmol. 1986 May;104(5):706-11. doi: 10.1001/archopht.1986.01050170096030. Arch Ophthalmol. 1986. PMID: 3518682

4

Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy.

Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA. Kaiser-Kupfer MI, et al. Among authors: gahl wa. Am J Ophthalmol. 1994 Nov 15;118(5):569-82. doi: 10.1016/s0002-9394(14)76572-9. Am J Ophthalmol. 1994. PMID: 7977570

5

Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism.

Iwata F, Reed GF, Caruso RC, Kuehl EM, Gahl WA, Kaiser-Kupfer MI. Iwata F, et al. Among authors: gahl wa. Ophthalmology. 2000 Apr;107(4):783-9. doi: 10.1016/s0161-6420(99)00150-5. Ophthalmology. 2000. PMID: 10768343

6

Hermansky-Pudlak syndrome and related disorders of organelle formation.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Traffic. 2000 Nov;1(11):823-35. doi: 10.1034/j.1600-0854.2000.011103.x. Traffic. 2000. PMID: 11208073 Free article. Review.

7

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Anikster Y, et al. Among authors: gahl wa. Nat Genet. 2001 Aug;28(4):376-80. doi: 10.1038/ng576. Nat Genet. 2001. PMID: 11455388

8

Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Thromb Haemost. 2001 Jul;86(1):233-45. Thromb Haemost. 2001. PMID: 11487012 Review.

9

Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.

Huizing M, Anikster Y, White JG, Gahl WA. Huizing M, et al. Among authors: gahl wa. Mol Genet Metab. 2001 Sep-Oct;74(1-2):217-25. doi: 10.1006/mgme.2001.3233. Mol Genet Metab. 2001. PMID: 11592818

10

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Pediatr Res. 2002 Feb;51(2):150-8. doi: 10.1203/00006450-200202000-00006. Pediatr Res. 2002. PMID: 11809908

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