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Results: 1-10 |
Results: 10
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
Authors: Nishimura, DY Searby, CC Carmi, R Elbedour, K Van Maldergem, L Fulton, AB Lam, BL Powell, BR Swiderski, RE Bugge, KE Haider, NB Kwitek-Black, AE Ying, LH Duhl, DM Gorman, SW Heon, E Iannaccone, A Bonneau, D Biesecker, LG Jacobson, SG Stone, EM Sheffield, VC
Citation: Dy. Nishimura et al., Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2), HUM MOL GEN, 10(8), 2001, pp. 865-874
Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head
Authors: Clark, AF Kawase, K English-Wright, S Lane, D Steely, HT Yamamoto, T Kitazawa, Y Kwon, YH Fingert, JH Swiderski, RE Mullins, RF Hageman, GS Alward, WLM Sheffield, VC Stone, EM
Citation: Af. Clark et al., Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head, FASEB J, 15(7), 2001, pp. 1251-1253
Evidence supporting WNT2 as an autism susceptibility gene
Authors: Wassink, TH Piven, J Vieland, VJ Huang, J Swiderski, RE Pietila, J Braun, T Beck, G Folstein, SE Haines, JL Sheffield, VC
Citation: Th. Wassink et al., Evidence supporting WNT2 as an autism susceptibility gene, AM J MED G, 105(5), 2001, pp. 406-413
Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues
Authors: Clark, AF Steely, HT Dickerson, JE English-Wright, S Stropki, K McCartney, MD Jacobson, N Shepard, AR Clark, JI Matsushima, H Peskind, ER Leverenz, JB Wilkinson, CW Swiderski, RE Fingert, JH Sheffield, VC Stone, EM
Citation: Af. Clark et al., Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues, INV OPHTH V, 42(8), 2001, pp. 1769-1780
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms ina novel gene, TMEM2
Authors: Scott, DA Drury, S Sundstrom, RA Bishop, J Swiderski, RE Carmi, R Ramesh, A Elbedour, K Srisailapathy, CRS Keats, BJ Sheffield, VC Smith, RJH
Citation: Da. Scott et al., Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms ina novel gene, TMEM2, GENE, 246(1-2), 2000, pp. 265-274
Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization
Authors: Swiderski, RE Ross, JL Fingert, JH Clark, AF Alward, WLM Stone, EM Sheffield, VC
Citation: Re. Swiderski et al., Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization, INV OPHTH V, 41(11), 2000, pp. 3420-3428
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
Authors: Stone, EM Lotery, AJ Munier, FL Heon, E Piguet, B Guymer, RH Vandenburgh, K Cousin, P Nishimura, D Swiderski, RE Silvestri, G Mackey, DA Hageman, GS Bird, AC Sheffield, VC Schorderet, DF
Citation: Em. Stone et al., A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy, NAT GENET, 22(2), 1999, pp. 199-202
Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects
Authors: Swiderski, RE Reiter, RS Nishimura, DY Alward, WLM Kalenak, JW Searby, CS Stone, EM Sheffield, VC Lin, JJC
Citation: Re. Swiderski et al., Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects, DEV DYNAM, 216(1), 1999, pp. 16-27
The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23
Authors: Gorman, SW Haider, NB Grieshammer, U Swiderski, RE Kim, E Welch, JW Searby, C Leng, S Carmi, R Sheffield, VC Duhl, DM
Citation: Sw. Gorman et al., The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23, GENOMICS, 59(2), 1999, pp. 150-160
Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain
Authors: Swiderski, RE Ying, LH Cassell, MD Alward, WLM Stone, EM Sheffield, VC
Citation: Re. Swiderski et al., Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain, MOL BRAIN R, 68(1-2), 1999, pp. 64-72
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