AAAAAA

   
Results: 1-25 | 26-50 | 51-57
Results: 1-25/57
Onset, extent, and duration of dehydration in the Southern Hemisphere polar vortex
Authors: Stone, EM Tabazadeh, A Jensen, E Pumphrey, HC Santee, ML Mergenthaler, JL
Citation: Em. Stone et al., Onset, extent, and duration of dehydration in the Southern Hemisphere polar vortex, J GEO RES-A, 106(D19), 2001, pp. 22979-22989
Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR
Authors: Wang, WH McNatt, LG Shepard, AR Jacobson, N Nishimura, DY Stone, EM Sheffield, VC Clark, AF
Citation: Wh. Wang et al., Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR, MOL VIS, 7(13), 2001, pp. 89-94
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
Authors: Mykytyn, K Braun, T Carmi, R Haider, NB Searby, CC Shastri, M Beck, G Wright, AF Iannaccone, A Elbedour, K Riise, R Baldi, A Raas-Rothschild, A Gorman, SW Duhl, DM Jacobson, SG Casavant, T Stone, EM Sheffield, VC
Citation: K. Mykytyn et al., Identification of the gene that, when mutated, causes the human obesity syndrome BBS4, NAT GENET, 28(2), 2001, pp. 188-191
TCL1 is activated by chromosomal rearrangement or by hypomethylation
Authors: Yuille, MR Condie, A Stone, EM Wilsher, J Bradshaw, PS Brooks, L Catovsky, D
Citation: Mr. Yuille et al., TCL1 is activated by chromosomal rearrangement or by hypomethylation, GENE CHROM, 30(4), 2001, pp. 336-341
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
Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
Authors: Biswas, S Munier, FL Yardley, J Hart-Holden, N Perveen, R Cousin, P Sutphin, JE Noble, B Batterbury, M Kielty, C Hackett, A Bonshek, R Ridgway, A McLeod, D Sheffield, VC Stone, EM Schorderet, DF Black, GCM
Citation: S. Biswas et al., Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy, HUM MOL GEN, 10(21), 2001, pp. 2415-2423
Molecular genetics of age-related macular degeneration
Authors: Stone, EM Sheffield, VC Hageman, GS
Citation: Em. Stone et al., Molecular genetics of age-related macular degeneration, HUM MOL GEN, 10(20), 2001, pp. 2285-2292
Non-secretion of mutant proteins of the glaucoma gene myocilin in culturedtrabecular meshwork cells and in aqueous humor
Authors: Jacobson, N Andrews, M Shepard, AR Nishimura, D Searby, C Fingert, JH Hageman, G Mullins, R Davidson, BL Kwon, YH Alward, WLM Stone, EM Clark, AF Sheffield, VC
Citation: N. Jacobson et al., Non-secretion of mutant proteins of the glaucoma gene myocilin in culturedtrabecular meshwork cells and in aqueous humor, HUM MOL GEN, 10(2), 2001, pp. 117-125
N-acetyltransferases, sulfotransferases and heterocyclic amine activation in the breast
Authors: Williams, JA Stone, EM Fakis, G Johnson, N Cordell, JA Meinl, W Glatt, H Sim, E Phillips, DH
Citation: Ja. Williams et al., N-acetyltransferases, sulfotransferases and heterocyclic amine activation in the breast, PHARMACOGEN, 11(5), 2001, pp. 373-388
The molecular genetics of Bardet-Biedl syndrome
Authors: Sheffield, VC Nishimura, D Stone, EM
Citation: Vc. Sheffield et al., The molecular genetics of Bardet-Biedl syndrome, CUR OP GEN, 11(3), 2001, pp. 317-321
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 for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier
Authors: Craig, JE Baird, PN Healey, DL McNaught, AI McCartney, PJ Rait, JL Dickinson, JL Roe, L Fingert, JH Stone, EM Mackey, DA
Citation: Je. Craig et al., Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier, OPHTHALMOL, 108(9), 2001, pp. 1607-1620
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
An analysis of allelic variation in the ABCA4 gene
Authors: Webster, AR Heon, E Lotery, AJ Vandenburgh, K Casavant, TL Oh, KT Beck, G Fishman, GA Lam, BL Levin, A Heckenlively, JR Jacobson, SG Weleber, RG Sheffield, VC Stone, EM
Citation: Ar. Webster et al., An analysis of allelic variation in the ABCA4 gene, INV OPHTH V, 42(6), 2001, pp. 1179-1189
Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders
Authors: Kuehn, MH Stone, EM Hageman, GS
Citation: Mh. Kuehn et al., Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders, INV OPHTH V, 42(13), 2001, pp. 3123-3129
Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells
Authors: Shepard, AR Jacobson, N Fingert, JH Stone, EM Sheffield, VC Clark, AF
Citation: Ar. Shepard et al., Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells, INV OPHTH V, 42(13), 2001, pp. 3173-3181
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension
Authors: Fingert, JH Clark, AF Craig, JE Alward, WLM Snibson, GR McLaughlin, M Tuttle, L Mackey, DA Sheffield, VC Stone, EM
Citation: Jh. Fingert et al., Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension, INV OPHTH V, 42(1), 2001, pp. 145-152
Autosomal dominant Stargardt-like macular dystrophy
Authors: Donoso, LA Edwards, AO Frost, A Vrabec, T Stone, EM Hageman, GS Perski, T
Citation: La. Donoso et al., Autosomal dominant Stargardt-like macular dystrophy, SURV OPHTHA, 46(2), 2001, pp. 149-163
Gideon's spies: The secret history of the Mossad
Authors: Stone, EM
Citation: Em. Stone, Gideon's spies: The secret history of the Mossad, MILIT LAW R, 169, 2001, pp. 196-206
Concentric retinitis pigmentosa: Clinicopathologic correlations
Authors: Milam, AH De Castro, EB Smith, JE Tang, WX John, SK Gorin, MB Stone, EM Aguirre, GD Jacobson, SG
Citation: Ah. Milam et al., Concentric retinitis pigmentosa: Clinicopathologic correlations, EXP EYE RES, 73(4), 2001, pp. 493-508
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration
Authors: Guymer, RH Heon, E Lotery, AJ Munier, FL Schorderet, DF Baird, PN McNeil, RJ Haines, H Sheffield, VC Stone, EM
Citation: Rh. Guymer et al., Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration, ARCH OPHTH, 119(5), 2001, pp. 745-751
Autosomal dominant Stargardt-like macular dystrophy - Founder effect and reassessment of genetic heterogeneity
Authors: Donoso, LA Frost, AT Stone, EM Weleber, RG MacDonald, IM Hageman, GS Cibis, GW Ritter, R Edwards, AO
Citation: La. Donoso et al., Autosomal dominant Stargardt-like macular dystrophy - Founder effect and reassessment of genetic heterogeneity, ARCH OPHTH, 119(4), 2001, pp. 564-570
Mutations in the CRB1 gene cause Leber congenital amaurosis
Authors: Lotery, AJ Jacobson, SG Fishman, GA Weleber, RG Fulton, AB Namperumalsamy, P Heon, E Levin, AV Grover, S Rosenow, JR Kopp, KK Sheffield, VC Stone, EM
Citation: Aj. Lotery et al., Mutations in the CRB1 gene cause Leber congenital amaurosis, ARCH OPHTH, 119(3), 2001, pp. 415-420
Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau disease
Authors: Allen, RC Webster, AR Sui, R Brown, J Taylor, CM Stone, EM
Citation: Rc. Allen et al., Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau disease, ARCH OPHTH, 119(11), 2001, pp. 1659-1665
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
Authors: Nishimura, DY Searby, CC Alward, WL Walton, D Craig, JE Mackey, DA Kawase, K Kanis, AB Patil, SR Stone, EM Sheffield, VC
Citation: Dy. Nishimura et al., A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye, AM J HU GEN, 68(2), 2001, pp. 364-372
Risultati: 1-25 | 26-50 | 51-57