Hazelwood S - Search Results

1

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: hazelwood s. Biochem Mol Med. 1996 Aug;58(2):135-41. doi: 10.1006/bmme.1996.0041. Biochem Mol Med. 1996. PMID: 8812732

2

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: hazelwood s. Mol Genet Metab. 1998 Jun;64(2):99-107. doi: 10.1006/mgme.1998.2679. Mol Genet Metab. 1998. PMID: 9705234

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. 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

Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene.

Dell'Angelica EC, Aguilar RC, Wolins N, Hazelwood S, Gahl WA, Bonifacino JS. Dell'Angelica EC, et al. Among authors: hazelwood s. J Biol Chem. 2000 Jan 14;275(2):1300-6. doi: 10.1074/jbc.275.2.1300. J Biol Chem. 2000. PMID: 10625677 Free article.

5

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. 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

6

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. Among authors: hazelwood s. N Engl J Med. 1998 Apr 30;338(18):1258-64. doi: 10.1056/NEJM199804303381803. N Engl J Med. 1998. PMID: 9562579 Free article.

7

Images in clinical medicine. Colonic ileus.

Hazelwood S, Burton D. Hazelwood S, et al. N Engl J Med. 2006 Feb 16;354(7):e6. doi: 10.1056/NEJMicm050019. N Engl J Med. 2006. PMID: 16481631 Free article. No abstract available.

8

The incorporation of an ion channel gene mutation associated with the long QT syndrome (Q9E-hMiRP1) in a plasmid vector for site-specific arrhythmia gene therapy: in vitro and in vivo feasibility studies.

Burton DY, Song C, Fishbein I, Hazelwood S, Li Q, DeFelice S, Connolly JM, Perlstein I, Coulter DA, Levy RJ. Burton DY, et al. Among authors: hazelwood s. Hum Gene Ther. 2003 Jun 10;14(9):907-22. doi: 10.1089/104303403765701196. Hum Gene Ther. 2003. PMID: 12828861

9

Transcription factor Egr-1 in calcific aortic valve disease.

Ghazvini-Boroujerdi M, Clark J, Narula N, Palmatory E, Connolly JM, DeFelice S, Xu J, Jian B, Hazelwood S, Levy RJ. Ghazvini-Boroujerdi M, et al. Among authors: hazelwood s. J Heart Valve Dis. 2004 Nov;13(6):894-903. J Heart Valve Dis. 2004. PMID: 15597579

10

Balance Assessment Using a Handheld Smartphone with Principal Component Analysis for Anatomical Calibration.

Anthony EC, Kam OK, Klisch SM, Hazelwood SJ, Berg-Johansen B. Anthony EC, et al. Among authors: hazelwood sj. Sensors (Basel). 2024 Aug 23;24(17):5467. doi: 10.3390/s24175467. Sensors (Basel). 2024. PMID: 39275378 Free PMC article.

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