Stone DL - Search Results

1

The E326K mutation and Gaucher disease: mutation or polymorphism?

Park JK, Tayebi N, Stubblefield BK, LaMarca ME, MacKenzie JJ, Stone DL, Sidransky E. Park JK, et al. Among authors: stone dl. Clin Genet. 2002 Jan;61(1):32-4. doi: 10.1034/j.1399-0004.2002.610106.x. Clin Genet. 2002. PMID: 11903352

2

Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.

Lau EK, Tayebi N, Ingraham LJ, Winfield SL, Koprivica V, Stone DL, Zimran A, Ginns EI, Sidransky E. Lau EK, et al. Among authors: stone dl. Hum Genet. 1999 Apr;104(4):293-300. doi: 10.1007/s004390050957. Hum Genet. 1999. PMID: 10369158

3

Type 2 gaucher disease: an expanding phenotype.

Tayebi N, Stone DL, Sidransky E. Tayebi N, et al. Among authors: stone dl. Mol Genet Metab. 1999 Oct;68(2):209-19. doi: 10.1006/mgme.1999.2918. Mol Genet Metab. 1999. PMID: 10527671 Review. No abstract available.

4

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Stone DL, et al. Hum Mutat. 2000;15(2):181-8. doi: 10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S. Hum Mutat. 2000. PMID: 10649495 Review.

5

Type 2 Gaucher disease: the collodion baby phenotype revisited.

Stone DL, Carey WF, Christodoulou J, Sillence D, Nelson P, Callahan M, Tayebi N, Sidransky E. Stone DL, et al. Arch Dis Child Fetal Neonatal Ed. 2000 Mar;82(2):F163-6. doi: 10.1136/fn.82.2.f163. Arch Dis Child Fetal Neonatal Ed. 2000. PMID: 10685993 Free PMC article.

6

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E. Koprivica V, et al. Among authors: stone dl. Am J Hum Genet. 2000 Jun;66(6):1777-86. doi: 10.1086/302925. Epub 2000 May 4. Am J Hum Genet. 2000. PMID: 10796875 Free PMC article.

7

Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.

Park JK, Koprivica V, Andrews DQ, Madike V, Tayebi N, Stone DL, Sidransky E. Park JK, et al. Among authors: stone dl. Am J Med Genet. 2001 Mar 1;99(2):147-51. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1144>3.0.co;2-1. Am J Med Genet. 2001. PMID: 11241475 Review.

8

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

Stone DL, van Diggelen OP, de Klerk JB, Gaillard JL, Niermeijer MF, Willemsen R, Tayebi N, Sidransky E. Stone DL, et al. Eur J Hum Genet. 1999 May-Jun;7(4):505-9. doi: 10.1038/sj.ejhg.5200315. Eur J Hum Genet. 1999. PMID: 10352942

9

Life-threatening splenic hemorrhage in two patients with Gaucher disease.

Stone DL, Ginns EI, Krasnewich D, Sidransky E. Stone DL, et al. Am J Hematol. 2000 Jun;64(2):140-2. doi: 10.1002/(sici)1096-8652(200006)64:2<140::aid-ajh14>3.0.co;2-t. Am J Hematol. 2000. PMID: 10814997 Free article.

10

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease.

Stone DL, Tayebi N, Coble C, Ginns EI, Sidransky E. Stone DL, et al. J Med Genet. 2000 Nov;37(11):E40. doi: 10.1136/jmg.37.11.e40. J Med Genet. 2000. PMID: 11073549 Free PMC article. Review. No abstract available.

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