Park JK - Search Results

1

Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E. Goker-Alpan O, et al. Among authors: park jk. J Pediatr. 2003 Aug;143(2):273-6. doi: 10.1067/S0022-3476(03)00302-0. J Pediatr. 2003. PMID: 12970647

2

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: park jk. Mol Genet Metab. 2002 Aug;76(4):262-70. doi: 10.1016/s1096-7192(02)00117-8. Mol Genet Metab. 2002. PMID: 12208131

3

Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E. Tayebi N, et al. Among authors: park jk. Am J Hum Genet. 2003 Mar;72(3):519-34. doi: 10.1086/367850. Epub 2003 Feb 13. Am J Hum Genet. 2003. PMID: 12587096 Free PMC article.

4

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. Pediatr Res. 2003 Mar;53(3):387-95. doi: 10.1203/01.PDR.0000049515.79882.94. Pediatr Res. 2003. PMID: 12595585

5

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. Clin Genet. 2002 Jan;61(1):32-4. doi: 10.1034/j.1399-0004.2002.610106.x. Clin Genet. 2002. PMID: 11903352

6

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: park jk. Hum Mutat. 2002 Apr;19(4):458-9. doi: 10.1002/humu.9024. Hum Mutat. 2002. PMID: 11933202

7

Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.

Tayebi N, Park J, Madike V, Sidransky E. Tayebi N, et al. Hum Genet. 2000 Oct;107(4):400-3. doi: 10.1007/s004390000380. Hum Genet. 2000. PMID: 11129343

8

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: park jk. 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.

9

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. 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.

10

A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.

Tayebi N, Andrews DQ, Park JK, Orvisky E, McReynolds J, Sidransky E, Krasnewich DM. Tayebi N, et al. Among authors: park jk. Am J Med Genet. 2002 Mar 15;108(3):241-6. doi: 10.1002/ajmg.10246. Am J Med Genet. 2002. PMID: 11891694

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