Martin BM - Search Results

1

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.

Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E. Winfield SL, et al. Among authors: martin bm. Genome Res. 1997 Oct;7(10):1020-6. doi: 10.1101/gr.7.10.1020. Genome Res. 1997. PMID: 9331372 Free PMC article.

2

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

Tayebi N, Reissner KJ, Lau EK, Stubblefield BK, Klineburgess AC, Martin BM, Sidransky E. Tayebi N, et al. Among authors: martin bm. Pediatr Res. 1998 May;43(5):571-8. doi: 10.1203/00006450-199805000-00003. Pediatr Res. 1998. PMID: 9585001

3

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

Orvisky E, Park JK, Parker A, Walker JM, Martin BM, Stubblefield BK, Uyama E, Tayebi N, Sidransky E. Orvisky E, et al. Among authors: martin bm. Hum Mutat. 2002 Apr;19(4):458-9. doi: 10.1002/humu.9024. Hum Mutat. 2002. PMID: 11933202

4

Gaucher's disease: advances and challenges.

Martin BM, Sidransky E, Ginns EI. Martin BM, et al. Adv Pediatr. 1989;36:277-306. Adv Pediatr. 1989. PMID: 2675571 Review. No abstract available.

5

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.

Orvisky E, Park JK, LaMarca ME, Ginns EI, Martin BM, Tayebi N, Sidransky E. Orvisky E, et al. Among authors: martin bm. Mol Genet Metab. 2002 Aug;76(4):262-70. doi: 10.1016/s1096-7192(02)00117-8. Mol Genet Metab. 2002. PMID: 12208131

6

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E. Park JK, et al. Among authors: martin bm. Pediatr Res. 2003 Mar;53(3):387-95. doi: 10.1203/01.PDR.0000049515.79882.94. Pediatr Res. 2003. PMID: 12595585

7

A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.

LaMarca ME, Goldstein M, Tayebi N, Arcos-Burgos M, Martin BM, Sidransky E. LaMarca ME, et al. Among authors: martin bm. J Hum Genet. 2004;49(4):220-222. doi: 10.1007/s10038-004-0134-7. Epub 2004 Mar 13. J Hum Genet. 2004. PMID: 15024629

8

Treatment of Gaucher's disease.

Sidransky E, Martin B, Ginns EI. Sidransky E, et al. N Engl J Med. 1993 May 27;328(21):1566; author reply 1567. N Engl J Med. 1993. PMID: 8479500 No abstract available.

9

Association of an X-chromosome dodecamer insertional variant allele with mental retardation.

Philibert RA, King BH, Winfield S, Cook EH, Lee YH, Stubblefield B, Damschroder-Williams P, Dea C, Palotie A, Tengstrom C, Martin BM, Ginns EI. Philibert RA, et al. Among authors: martin bm. Mol Psychiatry. 1998 Jul;3(4):303-9. doi: 10.1038/sj.mp.4000442. Mol Psychiatry. 1998. PMID: 9702738

10

The characterization and sequence analysis of thirty CTG-repeat containing genomic cosmid clones.

Philibert RA, Horelli-Kuitunen N, Robb AS, Lee YH, Long RT, Damschroder-Williams P, Martin BM, Brennan MB, Palotie A, Ginns EI. Philibert RA, et al. Among authors: martin bm. Eur J Hum Genet. 1998 Jan;6(1):89-94. doi: 10.1038/sj.ejhg.5200157. Eur J Hum Genet. 1998. PMID: 9781019

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