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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.
Hum Mol Genet. 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591.
Hum Mol Genet. 2001.
PMID: 11468277
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.
Udar N, Yellore V, Chalukya M, Yelchits S, Silva-Garcia R, Small K; BPES Consortium.
Udar N, et al. Among authors: yelchits s.
Hum Mutat. 2003 Sep;22(3):222-8. doi: 10.1002/humu.10251.
Hum Mutat. 2003.
PMID: 12938087
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Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.
Udar N, Yelchits S, Chalukya M, Yellore V, Nusinowitz S, Silva-Garcia R, Vrabec T, Hussles Maumenee I, Donoso L, Small KW.
Udar N, et al. Among authors: yelchits s.
Hum Mutat. 2003 Feb;21(2):170-1. doi: 10.1002/humu.9109.
Hum Mutat. 2003.
PMID: 12552567
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North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus.
Small KW, Puech B, Mullen L, Yelchits S.
Small KW, et al. Among authors: yelchits s.
Mol Vis. 1997 Jan 2;3:1.
Mol Vis. 1997.
PMID: 9238090
Free article.
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A North Carolina macular dystrophy phenotype in a Belizean family maps to the MCDR1 locus.
Rabb MF, Mullen L, Yelchits S, Udar N, Small KW.
Rabb MF, et al. Among authors: yelchits s.
Am J Ophthalmol. 1998 Apr;125(4):502-8. doi: 10.1016/s0002-9394(99)80191-3.
Am J Ophthalmol. 1998.
PMID: 9559736
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North Carolina macular dystrophy (MCDR1) in Texas.
Small KW, Garcia CA, Gallardo G, Udar N, Yelchits S.
Small KW, et al. Among authors: yelchits s.
Retina. 1998;18(5):448-52.
Retina. 1998.
PMID: 9801042
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North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis.
Small KW, Udar N, Yelchits S, Klein R, Garcia C, Gallardo G, Puech B, Puech V, Saperstein D, Lim J, Haller J, Flaxel C, Kelsell R, Hunt D, Evans K, Lennon F, Pericak-Vance M.
Small KW, et al. Among authors: yelchits s.
Mol Vis. 1999 Dec 29;5:38.
Mol Vis. 1999.
PMID: 10617775
Free article.
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