Gahl WA - Search Results

1

The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.

Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED. Touchman JW, et al. Among authors: gahl wa. Genome Res. 2000 Feb;10(2):165-73. doi: 10.1101/gr.10.2.165. Genome Res. 2000. PMID: 10673275 Free PMC article.

2

Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13.

McDowell G, Isogai T, Tanigami A, Hazelwood S, Ledbetter D, Polymeropoulos MH, Lichter-Konecki U, Konecki D, Town MM, Van't Hoff WV, Weissenbach J, Gahl WA. McDowell G, et al. Among authors: gahl wa. Biochem Mol Med. 1996 Aug;58(2):135-41. doi: 10.1006/bmme.1996.0041. Biochem Mol Med. 1996. PMID: 8812732

3

Benign cystinosis patients.

Gahl WA, McDowell G, Kaiser-Kupfer MI. Gahl WA, et al. Cornea. 1996 Jan;15(1):101-2. doi: 10.1097/00003226-199601000-00019. Cornea. 1996. PMID: 8907390 No abstract available.

4

Inherited disorders of glycoprotein synthesis: cell biological insights.

McDowell G, Gahl WA. McDowell G, et al. Among authors: gahl wa. Proc Soc Exp Biol Med. 1997 Jun;215(2):145-57. doi: 10.3181/00379727-215-44121. Proc Soc Exp Biol Med. 1997. PMID: 9160042 Review.

5

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.

6

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

7

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.

8

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

9

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.

10

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.

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