Maumenee IH - Search Results

1

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.

Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Litt M, et al. Among authors: maumenee ih. Hum Mol Genet. 1997 May;6(5):665-8. doi: 10.1093/hmg/6.5.665. Hum Mol Genet. 1997. PMID: 9158139

2

A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22.

Kramer P, Yount J, Mitchell T, LaMorticella D, Carrero-Valenzuela R, Lovrien E, Maumenee I, Litt M. Kramer P, et al. Genomics. 1996 Aug 1;35(3):539-42. doi: 10.1006/geno.1996.0395. Genomics. 1996. PMID: 8812489 Free article.

3

Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts.

Bodker FS, Lavery MA, Mitchell TN, Lovrien EW, Maumenee IH. Bodker FS, et al. Among authors: maumenee ih. Am J Med Genet. 1990 Sep;37(1):54-9. doi: 10.1002/ajmg.1320370113. Am J Med Genet. 1990. PMID: 2240043

4

Posterior polar cataract: genetic analysis of a large family.

Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O. Finzi S, et al. Among authors: maumenee ih. Ophthalmic Genet. 2005 Sep;26(3):125-30. doi: 10.1080/13816810500229124. Ophthalmic Genet. 2005. PMID: 16272057

5

Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome.

Zhu D, Alcorn DM, Antonarakis SE, Levin LS, Huang PC, Mitchell TN, Warren AC, Maumenee IH. Zhu D, et al. Among authors: maumenee ih. Hum Genet. 1990 Nov;86(1):54-8. doi: 10.1007/BF00205172. Hum Genet. 1990. PMID: 1979306

6

Genetic basis of total colourblindness among the Pingelapese islanders.

Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH. Sundin OH, et al. Among authors: maumenee ih. Nat Genet. 2000 Jul;25(3):289-93. doi: 10.1038/77162. Nat Genet. 2000. PMID: 10888875

7

A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, Maumenee IH. Dharmaraj S, et al. Among authors: maumenee ih. Am J Hum Genet. 2000 Jan;66(1):319-26. doi: 10.1086/302719. Am J Hum Genet. 2000. PMID: 10631161 Free PMC article. No abstract available.

8

Colobomatous malformations of the eye.

Maumenee IH, Mitchell TN. Maumenee IH, et al. Trans Am Ophthalmol Soc. 1990;88:123-32; discussion 133-5. Trans Am Ophthalmol Soc. 1990. PMID: 2095017 Free PMC article. No abstract available.

9

Molecular genetics of human blue cone monochromacy.

Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al. Nathans J, et al. Among authors: maumenee ih. Science. 1989 Aug 25;245(4920):831-8. doi: 10.1126/science.2788922. Science. 1989. PMID: 2788922

10

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

Macke JP, Davenport CM, Jacobson SG, Hennessey JC, Gonzalez-Fernandez F, Conway BP, Heckenlively J, Palmer R, Maumenee IH, Sieving P, et al. Macke JP, et al. Among authors: maumenee ih. Am J Hum Genet. 1993 Jul;53(1):80-9. Am J Hum Genet. 1993. PMID: 8317502 Free PMC article.

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