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Results: 1-15 |
Results: 15
Prevalence of AIPL1 mutations in inherited retinal degenerative disease
Authors: Sohocki, MM Perrault, I Leroy, BP Payne, AM Dharmaraj, S Bhattacharya, SS Kaplan, J Maumenee, IH Koenekoop, R Meire, FM Birch, DG Heckenlively, JR Daiger, SP
Citation: Mm. Sohocki et al., Prevalence of AIPL1 mutations in inherited retinal degenerative disease, MOL GEN MET, 70(2), 2000, pp. 142-150
Genetic basis of total colourblindness among the Pingelapese islanders
Authors: Sundin, OH Yang, JM Li, YY Zhu, DP Hurd, JN Mitchell, TN Silva, ED Maumenee, IH
Citation: Oh. Sundin et al., Genetic basis of total colourblindness among the Pingelapese islanders, NAT GENET, 25(3), 2000, pp. 289-293
Retinal detachment in Marfan syndrome
Authors: Loewenstein, A Barequet, IS De Juan, E Maumenee, IH
Citation: A. Loewenstein et al., Retinal detachment in Marfan syndrome, RETINA, 20(4), 2000, pp. 358-363
A CRX null mutation is associated with both Leber congenital amaurosis anda normal ocular phenotype
Authors: Silva, E Yang, JM Li, YY Dharmaraj, S Sundin, OH Maumenee, IH
Citation: E. Silva et al., A CRX null mutation is associated with both Leber congenital amaurosis anda normal ocular phenotype, INV OPHTH V, 41(8), 2000, pp. 2076-2079
A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy
Authors: Kerrison, JB Miller, NR Hsu, FC Beaty, TH Maumenee, IH Smith, KH Savino, PJ Stone, EM Newman, NJ
Citation: Jb. Kerrison et al., A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy, AM J OPHTH, 130(6), 2000, pp. 803-812
A novel locus for Leber congenital amaurosis maps to chromosome 6q
Authors: Dharmaraj, S Li, YY Robitaille, JM Silva, E Zhu, DP Mitchell, TN Maltby, LP Baffoe-Bonnie, AB Maumenee, IH
Citation: S. Dharmaraj et al., A novel locus for Leber congenital amaurosis maps to chromosome 6q, AM J HU GEN, 66(1), 2000, pp. 319-326
Bestrophin gene mutations in patients with best vitelliform macular dystrophy
Authors: Caldwell, GM Kakuk, LE Griesinger, IB Simpson, SA Nowak, NJ Small, KW Maumenee, IH Rosenfeld, PJ Sieving, PA Shows, TB Ayyagari, R
Citation: Gm. Caldwell et al., Bestrophin gene mutations in patients with best vitelliform macular dystrophy, GENOMICS, 58(1), 1999, pp. 98-101
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation
Authors: Okajima, K Robinson, LK Hart, MA Abuelo, DN Cowan, LS Hasegawa, T Maumenee, IH Jabs, EW
Citation: K. Okajima et al., Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation, AM J MED G, 85(2), 1999, pp. 160-170
Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome
Authors: Rowe, PC Barron, DF Calkins, H Maumenee, IH Tong, PY Geraghty, MT
Citation: Pc. Rowe et al., Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome, J PEDIAT, 135(4), 1999, pp. 494-499
Ehlers-Danlos syndrome
Authors: Rowe, PC Barron, DF Calkins, H Maumenee, IH Tong, PY Geraghty, MT
Citation: Pc. Rowe et al., Ehlers-Danlos syndrome, J PEDIAT, 135(4), 1999, pp. 513-513
Hereditary macular diseases
Authors: Kelly, J Maumenee, IH
Citation: J. Kelly et Ih. Maumenee, Hereditary macular diseases, INT OPHTH C, 39(4), 1999, pp. 83-115
Genetic heterogeneity of dominant optic atrophy, Kjer type - Identification of a second locus on chromosome 18q12.2-12.3
Authors: Kerrison, JB Arnould, VJ Sallum, JMF Vagefi, MR Barmada, MM Li, YY Zhu, DP Maumenee, IH
Citation: Jb. Kerrison et al., Genetic heterogeneity of dominant optic atrophy, Kjer type - Identification of a second locus on chromosome 18q12.2-12.3, ARCH OPHTH, 117(6), 1999, pp. 805-810
Aniridia
Authors: Traboulsi, EI Zhu, ZP Maumenee, IH
Citation: Ei. Traboulsi et al., Aniridia, OX MG MED G, (36), 1998, pp. 99-114
Congenital nystagmus
Authors: Kerrison, JB Maumenee, IH
Citation: Jb. Kerrison et Ih. Maumenee, Congenital nystagmus, OX MG MED G, (36), 1998, pp. 513-537
Subluxation of the crystalline lens and associated systemic disease
Authors: Traboulsi, EI Maumenee, IH
Citation: Ei. Traboulsi et Ih. Maumenee, Subluxation of the crystalline lens and associated systemic disease, OX MG MED G, (36), 1998, pp. 605-627
Risultati: 1-15 |