Gahl WA - Search Results

1

Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H. Anikster Y, et al. Among authors: gahl wa. Am J Hum Genet. 2002 Aug;71(2):407-14. doi: 10.1086/341606. Epub 2002 Jun 7. Am J Hum Genet. 2002. PMID: 12058346 Free PMC article.

2

Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets.

Chen D, Guo J, Miki T, Tachibana M, Gahl WA. Chen D, et al. Among authors: gahl wa. Biochem Mol Med. 1997 Feb;60(1):27-37. doi: 10.1006/bmme.1996.2559. Biochem Mol Med. 1997. PMID: 9066979

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

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.

6

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.

7

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).

Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA. Anikster Y, et al. Among authors: gahl wa. Mol Genet Metab. 1999 Feb;66(2):111-6. doi: 10.1006/mgme.1998.2790. Mol Genet Metab. 1999. PMID: 10068513

8

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.

Seppala R, Lehto VP, Gahl WA. Seppala R, et al. Among authors: gahl wa. Am J Hum Genet. 1999 Jun;64(6):1563-9. doi: 10.1086/302411. Am J Hum Genet. 1999. PMID: 10330343 Free PMC article.

9

Mutations of CTNS causing intermediate cystinosis.

Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT. Thoene J, et al. Mol Genet Metab. 1999 Aug;67(4):283-93. doi: 10.1006/mgme.1999.2876. Mol Genet Metab. 1999. PMID: 10444339

10

CTNS mutations in patients with cystinosis.

Anikster Y, Shotelersuk V, Gahl WA. Anikster Y, et al. Among authors: gahl wa. Hum Mutat. 1999;14(6):454-8. doi: 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H. Hum Mutat. 1999. PMID: 10571941 Review.

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