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Results: 1-25 | 26-47
Results: 1-25/47
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
Generation of a high-density rat EST map
Authors: Scheetz, TE Raymond, MR Nishimura, DY McClain, A Roberts, C Birkett, C Gardiner, J Zhang, J Butters, N Sun, C Kwitek-Black, A Jacob, H Casavant, TL Soares, MB Sheffield, VC
Citation: Te. Scheetz et al., Generation of a high-density rat EST map, GENOME RES, 11(3), 2001, pp. 497-502
Automated construction of high-density comparative maps between rat, human, and mouse
Authors: Kwitek, AE Tonellato, PJ Chen, D Gullings-Handley, J Cheng, YJS Twigger, S Scheetz, TE Casavant, TL Stoll, M Nobrega, MA Shiozawa, M Soares, MB Sheffield, VC Jacob, HJ
Citation: Ae. Kwitek et al., Automated construction of high-density comparative maps between rat, human, and mouse, GENOME RES, 11(11), 2001, pp. 1935-1943
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
Pendred syndrome, DFNB4, and PDS/SCL26A4 identification of eight novel mutations and possible genotype-phenotype correlations
Authors: Campbell, C Cucci, RA Prasad, S Green, GE Edeal, JB Galer, CE Karniski, LP Sheffield, VC Smith, RJH
Citation: C. Campbell et al., Pendred syndrome, DFNB4, and PDS/SCL26A4 identification of eight novel mutations and possible genotype-phenotype correlations, HUM MUTAT, 17(5), 2001, pp. 403-411
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
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
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families
Authors: Nurmi, EL Bradford, Y Chen, YH Hall, J Arnone, B Gardiner, MB Hutcheson, HB Gilbert, JR Pericak-Vance, MA Copeland-Yates, SA Michaelis, RC Wassink, TH Santangelo, SL Sheffield, VC Piven, J Folstein, SE Haines, JL Sutcliffe, JS
Citation: El. Nurmi et al., Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families, GENOMICS, 77(1-2), 2001, pp. 105-113
Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis
Authors: Shalev, H Mishori-Dery, A Kapelushnik, J Moser, A Sheffield, VC McClain, A Carmi, R
Citation: H. Shalev et al., Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis, PRENAT DIAG, 21(3), 2001, pp. 183-186
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
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
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
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
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
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
The vision of Typhoon Lengkieki
Authors: Sheffield, VC
Citation: Vc. Sheffield, The vision of Typhoon Lengkieki, NAT MED, 6(7), 2000, pp. 746-747
Mutations in MKKS cause Bardet-Biedl syndrome
Authors: Slavotinek, AM Stone, EM Mykytyn, K Heckenlively, JR Green, JS Heon, E Musarella, MA Parfrey, PS Sheffield, VC Biesecker, LG
Citation: Am. Slavotinek et al., Mutations in MKKS cause Bardet-Biedl syndrome, NAT GENET, 26(1), 2000, pp. 15-16
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
Authors: Haider, NB Jacobson, SG Cideciyan, AV Swiderski, R Streb, LM Searby, C Beck, G Hockey, R Hanna, DB Gorman, S Duhl, D Carmi, R Bennett, J Weleber, RG Fishman, GA Wright, AF Stone, EM Sheffield, VC
Citation: Nb. Haider et al., Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate, NAT GENET, 24(2), 2000, pp. 127-131
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)
Authors: Scott, DA Wang, R Kreman, TM Andrews, M McDonald, JM Bishop, JR Smith, RJH Karniski, LP Sheffield, VC
Citation: Da. Scott et al., Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4), HUM MOL GEN, 9(11), 2000, pp. 1709-1715
Risultati: 1-25 | 26-47