Stambolian D - Search Results

1

Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.

Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ. Stambolian D, et al. Nat Genet. 1995 Jul;10(3):307-12. doi: 10.1038/ng0795-307. Nat Genet. 1995. PMID: 7670469

2

Macular deposits in galactokinase deficiency.

Hodes BL, Schietroma JM, Lane SS, Sadeghi J, Cunningham D, Stambolian D. Hodes BL, et al. Among authors: stambolian d. Metab Pediatr Syst Ophthalmol (1985). 1985;8(2-3):39-42. Metab Pediatr Syst Ophthalmol (1985). 1985. PMID: 3870945

3

Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2.

Ai Y, Basu M, Bergsma DJ, Stambolian D. Ai Y, et al. Among authors: stambolian d. Biochem Biophys Res Commun. 1995 Jul 17;212(2):687-91. doi: 10.1006/bbrc.1995.2023. Biochem Biophys Res Commun. 1995. PMID: 7542884

4

Mouse galactokinase: isolation, characterization, and location on chromosome 11.

Ai Y, Jenkins NA, Copeland NG, Gilbert DH, Bergsma DJ, Stambolian D. Ai Y, et al. Among authors: stambolian d. Genome Res. 1995 Aug;5(1):53-9. doi: 10.1101/gr.5.1.53. Genome Res. 1995. PMID: 8717055 Free article.

5

Fine structure of the human galactokinase GALK1 gene.

Bergsma DJ, Ai Y, Skach WR, Nesburn K, Anoia E, Van Horn S, Stambolian D. Bergsma DJ, et al. Among authors: stambolian d. Genome Res. 1996 Oct;6(10):980-5. doi: 10.1101/gr.6.10.980. Genome Res. 1996. PMID: 8908517 Free article.

6

Genetic mapping of a mouse ocular malformation locus, Tcm, to chromosome 4.

Zhou E, Grimes P, Favor J, Koeberlein B, Pretsch W, Neuhauser-Klaus A, Sidjanin D, Stambolian D. Zhou E, et al. Among authors: stambolian d. Mamm Genome. 1997 Mar;8(3):178-81. doi: 10.1007/s003359900385. Mamm Genome. 1997. PMID: 9069117

7

Mapping of the autosomal dominant cataract mutation (Coc) on mouse chromosome 16.

Sidjanin DJ, Grimes PA, Pretsch W, Neuhäuser-Klaus A, Favor J, Stambolian DE. Sidjanin DJ, et al. Among authors: stambolian de. Invest Ophthalmol Vis Sci. 1997 Nov;38(12):2502-7. Invest Ophthalmol Vis Sci. 1997. PMID: 9375568

8

Novel mutations in 13 probands with galactokinase deficiency.

Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D. Kolosha V, et al. Among authors: stambolian d. Hum Mutat. 2000;15(5):447-53. doi: 10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M. Hum Mutat. 2000. PMID: 10790206

9

A mouse model of galactose-induced cataracts.

Ai Y, Zheng Z, O'Brien-Jenkins A, Bernard DJ, Wynshaw-Boris T, Ning C, Reynolds R, Segal S, Huang K, Stambolian D. Ai Y, et al. Among authors: stambolian d. Hum Mol Genet. 2000 Jul 22;9(12):1821-7. doi: 10.1093/hmg/9.12.1821. Hum Mol Genet. 2000. PMID: 10915771

10

A 76-bp deletion in the Mip gene causes autosomal dominant cataract in Hfi mice.

Sidjanin DJ, Parker-Wilson DM, Neuhäuser-Klaus A, Pretsch W, Favor J, Deen PM, Ohtaka-Maruyama C, Lu Y, Bragin A, Skach WR, Chepelinsky AB, Grimes PA, Stambolian DE. Sidjanin DJ, et al. Among authors: stambolian de. Genomics. 2001 Jun 15;74(3):313-9. doi: 10.1006/geno.2001.6509. Genomics. 2001. PMID: 11414759

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