Gahl WA - Search Results

1

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

2

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.

Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA. Kaler SG, et al. Among authors: gahl wa. Nat Genet. 1994 Oct;8(2):195-202. doi: 10.1038/ng1094-195. Nat Genet. 1994. PMID: 7842019

3

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.

Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, King RA, Gahl WA. Hazelwood S, et al. Among authors: gahl wa. Am J Hum Genet. 1997 Nov;61(5):1088-94. doi: 10.1086/301611. Am J Hum Genet. 1997. PMID: 9345105 Free PMC article.

4

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.

Hazelwood S, Bernardini I, Shotelersuk V, Tangerman A, Guo J, Mudd H, Gahl WA. Hazelwood S, et al. Among authors: gahl wa. Am J Med Genet. 1998 Feb 3;75(4):395-400. doi: 10.1002/(sici)1096-8628(19980203)75:4<395::aid-ajmg9>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9482646

5

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).

Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. Gahl WA, et al. N Engl J Med. 1998 Apr 30;338(18):1258-64. doi: 10.1056/NEJM199804303381803. N Engl J Med. 1998. PMID: 9562579 Free article.

6

Clinical and molecular aspects of nephropathic cystinosis.

McDowell GA, Town MM, van't Hoff W, Gahl WA. McDowell GA, et al. Among authors: gahl wa. J Mol Med (Berl). 1998 Apr;76(5):295-302. doi: 10.1007/s001090050220. J Mol Med (Berl). 1998. PMID: 9587063 Review.

7

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

Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA. Shotelersuk V, et al. Among authors: gahl wa. Mol Genet Metab. 1998 Jun;64(2):99-107. doi: 10.1006/mgme.1998.2679. Mol Genet Metab. 1998. PMID: 9705234

8

NTBC and alkaptonuria.

Anikster Y, Nyhan WL, Gahl WA. Anikster Y, et al. Among authors: gahl wa. Am J Hum Genet. 1998 Sep;63(3):920-1. doi: 10.1086/302027. Am J Hum Genet. 1998. PMID: 9718357 Free PMC article. No abstract available.

9

Hermansky-Pudlak syndrome: models for intracellular vesicle formation.

Shotelersuk V, Gahl WA. Shotelersuk V, et al. Among authors: gahl wa. Mol Genet Metab. 1998 Oct;65(2):85-96. doi: 10.1006/mgme.1998.2729. Mol Genet Metab. 1998. PMID: 9787100 Review.

10

CTNS mutations in an American-based population of cystinosis patients.

Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA. Shotelersuk V, et al. Among authors: gahl wa. Am J Hum Genet. 1998 Nov;63(5):1352-62. doi: 10.1086/302118. Am J Hum Genet. 1998. PMID: 9792862 Free PMC article.

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