Year |
Citation |
Score |
2005 |
Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O. Posterior polar cataract: genetic analysis of a large family. Ophthalmic Genetics. 26: 125-30. PMID 16272057 DOI: 10.1080/13816810500229124 |
0.639 |
|
2000 |
Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH. Genetic basis of total colourblindness among the Pingelapese islanders. Nature Genetics. 25: 289-93. PMID 10888875 DOI: 10.1038/77162 |
0.554 |
|
2000 |
Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, Maumenee IH. A novel locus for Leber congenital amaurosis maps to chromosome 6q. American Journal of Human Genetics. 66: 319-26. PMID 10631161 DOI: 10.1086/302719 |
0.603 |
|
1997 |
Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Human Molecular Genetics. 6: 665-8. PMID 9158139 DOI: 10.1093/Hmg/6.5.665 |
0.631 |
|
1996 |
Kramer P, Yount J, Mitchell T, LaMorticella D, Carrero-Valenzuela R, Lovrien E, Maumenee I, Litt M. A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. Genomics. 35: 539-42. PMID 8812489 DOI: 10.1006/Geno.1996.0395 |
0.647 |
|
1990 |
Bodker FS, Lavery MA, Mitchell TN, Lovrien EW, Maumenee IH. 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. American Journal of Medical Genetics. 37: 54-9. PMID 2240043 DOI: 10.1002/Ajmg.1320370113 |
0.61 |
|
1990 |
Zhu D, Alcorn DM, Antonarakis SE, Levin LS, Huang PC, Mitchell TN, Warren AC, Maumenee IH. Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome. Human Genetics. 86: 54-8. PMID 1979306 DOI: 10.1007/Bf00205172 |
0.555 |
|
1986 |
Maumenee IH, Alston A, Mets MB, Flynn JT, Mitchell TN, Beaty TH. Inheritance of congenital esotropia. Transactions of the American Ophthalmological Society. 84: 85-93. PMID 3590483 |
0.316 |
|
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