Gahl WA - Search Results

1

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

Vilboux T, Malicdan MC, Chang YM, Guo J, Zerfas PM, Stephen J, Cullinane AR, Bryant J, Fischer R, Brooks BP, Zein WM, Wiggs EA, Zalewski CK, Poretti A, Bryan MM, Vemulapalli M, Mullikin JC, Kirby M, Anderson SM; NISC Comparative Sequencing Program; Huizing M, Toro C, Gahl WA, Gunay-Aygun M. Vilboux T, et al. Among authors: gahl wa. J Med Genet. 2016 May;53(5):318-29. doi: 10.1136/jmedgenet-2015-103416. Epub 2016 Jan 13. J Med Genet. 2016. PMID: 27095636 Free PMC article.

2

High-performance liquid chromatography of lipids for the identification of human metabolic disease.

Markello TC, Guo J, Gahl WA. Markello TC, et al. Among authors: gahl wa. Anal Biochem. 1991 Nov 1;198(2):368-74. doi: 10.1016/0003-2697(91)90441-u. Anal Biochem. 1991. PMID: 1799224

3

Molecular cloning of two novel rab genes from human melanocytes.

Chen D, Guo J, Miki T, Tachibana M, Gahl WA. Chen D, et al. Among authors: gahl wa. Gene. 1996 Sep 26;174(1):129-34. doi: 10.1016/0378-1119(96)00509-4. Gene. 1996. PMID: 8863739

4

RAB GTPases expressed in human melanoma cells.

Chen D, Guo J, Gahl WA. Chen D, et al. Among authors: gahl wa. Biochim Biophys Acta. 1997 Jan 10;1355(1):1-6. doi: 10.1016/s0167-4889(96)00169-3. Biochim Biophys Acta. 1997. PMID: 9030196 Free article.

5

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

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

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.

8

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

9

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.

Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA. Anikster Y, et al. Among authors: gahl wa. Pediatr Res. 2000 Jan;47(1):17-23. doi: 10.1203/00006450-200001000-00007. Pediatr Res. 2000. PMID: 10625078

10

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Hum Genet. 2000 Mar;106(3):370-3. doi: 10.1007/s004390051053. Hum Genet. 2000. PMID: 10798370

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