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Results: 1-25 | 26-29
Results: 1-25/29
Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness
Authors: Bykhovskaya, Y Yang, HY Taylor, K Hang, T Tun, RYM Estivill, X Casano, RAMS Majamaa, K Shohat, M Fischel-Ghodsian, N
Citation: Y. Bykhovskaya et al., Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness, GENET MED, 3(3), 2001, pp. 177-180
A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice
Authors: Johnson, KR Zheng, QY Bykhovskaya, Y Spirina, O Fischel-Ghodsian, N
Citation: Kr. Johnson et al., A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice, NAT GENET, 27(2), 2001, pp. 191-194
Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
Authors: Guan, MX Fischel-Ghodsian, N Attardi, G
Citation: Mx. Guan et al., Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation, HUM MOL GEN, 10(6), 2001, pp. 573-580
Mitochondrial cytochrome oxidase immunolabeling in aged human temporal bones
Authors: Keithley, EM Harris, B Desai, K Linthicum, F Fischel-Ghodsian, N
Citation: Em. Keithley et al., Mitochondrial cytochrome oxidase immunolabeling in aged human temporal bones, HEARING RES, 157(1-2), 2001, pp. 93-99
Mitochondrial DNA mutations and diabetes: Another step toward individualized medicine
Authors: Fischel-Ghodsian, N
Citation: N. Fischel-ghodsian, Mitochondrial DNA mutations and diabetes: Another step toward individualized medicine, ANN INT MED, 134(9), 2001, pp. 777-779
Homoplasmic mitochondrial DNA diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders
Authors: Fischel-Ghodsian, N
Citation: N. Fischel-ghodsian, Homoplasmic mitochondrial DNA diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders, MOL GEN MET, 71(1-2), 2000, pp. 93-99
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
Authors: Guan, MX Fischel-Ghodsian, N Attardi, G
Citation: Mx. Guan et al., A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity, HUM MOL GEN, 9(12), 2000, pp. 1787-1793
Heart-specific splice-variant of a human mitochondrial ribosomal protein (mRNA processing; tissue specific splicing)
Authors: Spirina, O Bykhovskaya, Y Kajava, AV O'Brien, TW Nierlich, DP Mougey, EB Sylvester, JE Graack, HR Wittmann-Liebold, B Fischel-Ghodsian, N
Citation: O. Spirina et al., Heart-specific splice-variant of a human mitochondrial ribosomal protein (mRNA processing; tissue specific splicing), GENE, 261(2), 2000, pp. 229-234
The Familial Mediterranean Fever protein interacts and colocalizes with a putative Golgi transporter
Authors: Chen, XG Bykhovskaya, Y Tidow, N Hamon, M Bercovitz, Z Spirina, O Fischel-Ghodsian, N
Citation: Xg. Chen et al., The Familial Mediterranean Fever protein interacts and colocalizes with a putative Golgi transporter, P SOC EXP M, 224(1), 2000, pp. 32-40
Familial Mediterranean fever: Effects of genotype and ethnicity on inflammatory attacks and amyloidosis
Authors: Mimouni, A Magal, N Stoffman, N Shohat, T Minasian, A Krasnov, M Halpern, GJ Rotter, JI Fischel-Ghodsian, N Danon, YL Shohat, M
Citation: A. Mimouni et al., Familial Mediterranean fever: Effects of genotype and ethnicity on inflammatory attacks and amyloidosis, PEDIATRICS, 105(5), 2000, pp. E701-E707
Temporal bone histopathology in connexin 26-related hearing loss
Authors: Jun, AI McGuirt, WT Hinojosa, R Green, GE Fischel-Ghodsian, N Smith, RJH
Citation: Ai. Jun et al., Temporal bone histopathology in connexin 26-related hearing loss, LARYNGOSCOP, 110(2), 2000, pp. 269-275
Mammalian mitochondrial ribosomal proteins (4) - Amino acid sequencing, characterization, and identification of corresponding gene sequences
Authors: O'Brien, TW Liu, JG Sylvester, JE Mougey, EB Fischel-Ghodsian, N Thiede, B Wittmann-Liebold, B Graack, HR
Citation: Tw. O'Brien et al., Mammalian mitochondrial ribosomal proteins (4) - Amino acid sequencing, characterization, and identification of corresponding gene sequences, J BIOL CHEM, 275(24), 2000, pp. 18153-18159
Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin
Authors: Tidow, N Chen, XG Muller, C Kawano, S Gombart, AF Fischel-Ghodsian, N Koeffler, HP
Citation: N. Tidow et al., Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin, BLOOD, 95(4), 2000, pp. 1451-1455
Candidate locus for a nuclear modifier gene for maternally inherited deafness
Authors: Bykhovskaya, Y Estivill, X Taylor, K Hang, T Hamon, M Casano, RAMS Yang, HY Rotter, JI Shohat, M Fischel-Ghodsian, N
Citation: Y. Bykhovskaya et al., Candidate locus for a nuclear modifier gene for maternally inherited deafness, AM J HU GEN, 66(6), 2000, pp. 1905-1910
Additional evidence of linkage between Crohn's disease and a putative locus on chromosome 12
Authors: Yang, HY Ohmen, JD Ma, YH Targan, SR Fischel-Ghodsian, N Rotter, JI
Citation: Hy. Yang et al., Additional evidence of linkage between Crohn's disease and a putative locus on chromosome 12, GENET MED, 1(5), 1999, pp. 194-198
A genome-wide search identifies potential new susceptibility loci for Crohn's disease
Authors: Ma, YH Ohmen, JD Li, ZM Bentley, L McElree, C Pressman, S Targan, SR Fischel-Ghodsian, N Rotter, JI Yang, HY
Citation: Yh. Ma et al., A genome-wide search identifies potential new susceptibility loci for Crohn's disease, INFLAMM B D, 5(4), 1999, pp. 271-278
Mitochondrial deafness mutations reviewed
Authors: Fischel-Ghodsian, N
Citation: N. Fischel-ghodsian, Mitochondrial deafness mutations reviewed, HUM MUTAT, 13(4), 1999, pp. 261-270
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis
Authors: Shohat, M Magal, N Shohat, T Chen, X Dagan, T Mimouni, A Danon, Y Lotan, R Ogur, G Sirin, A Schlezinger, M Halpern, GJ Schwabe, A Kastner, D Rotter, JI Fischel-Ghodsian, N
Citation: M. Shohat et al., Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis, EUR J HUM G, 7(3), 1999, pp. 287-292
Hearing impairment and neurological dysfunction associated with a mutationin the mitochondrial tRNA(Ser(UCN)) gene
Authors: Verhoeven, K Ensink, RJH Tiranti, V Huygen, PLM Johnson, DF Schatteman, I Van Laer, L Verstreken, M Van de Heyning, P Fischel-Ghodsian, N Zeviani, M Cremers, CWRJ Willems, PJ Van Camp, G
Citation: K. Verhoeven et al., Hearing impairment and neurological dysfunction associated with a mutationin the mitochondrial tRNA(Ser(UCN)) gene, EUR J HUM G, 7(1), 1999, pp. 45-51
Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications
Authors: Casano, RAMS Johnson, DF Bykhovskaya, Y Torricelli, F Bigozzi, M Fischel-Ghodsian, N
Citation: Rams. Casano et al., Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications, AM J OTOLAR, 20(3), 1999, pp. 151-156
Aminoglycoside-induced deafness associated with the mitochondrial DNA mutation A1555G
Authors: Shohat, M Fischel-Ghodsian, N Legum, C Halpern, GJ
Citation: M. Shohat et al., Aminoglycoside-induced deafness associated with the mitochondrial DNA mutation A1555G, AM J OTOLAR, 20(1), 1999, pp. 64-67
Identification and characterization of a zinc finger gene (ZNF213) from 16p13.3
Authors: Chen, XG Hamon, M Deng, ZM Centola, M Sood, R Taylor, K Kastner, DL Fischel-Ghodsian, N
Citation: Xg. Chen et al., Identification and characterization of a zinc finger gene (ZNF213) from 16p13.3, BBA-GENE ST, 1444(2), 1999, pp. 218-230
Maternally inherited nonsyndromic hearing loss
Authors: Friedman, RA Bykhovskaya, Y Sue, CM DiMauro, S Bradley, R Fallis-Cunningham, R Paradies, N Pensak, ML Smith, RJ Groden, J Li, XYC Fischel-Ghodsian, N
Citation: Ra. Friedman et al., Maternally inherited nonsyndromic hearing loss, AM J MED G, 84(4), 1999, pp. 369-372
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
Authors: Sue, CM Tanji, K Hadjigeorgiou, G Andreu, AL Nishino, I Krishna, S Bruno, C Hirano, M Shanske, S Bonilla, E Fischel-Ghodsian, N DiMauro, S Friedman, R
Citation: Cm. Sue et al., Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene, NEUROLOGY, 52(9), 1999, pp. 1905-1908
Linkage of Crohn's disease to the major histocompatibility complex region is detected by multiple non-parametric analyses
Authors: Yang, H Plevy, SE Taylor, K Tyan, D Fischel-Ghodsian, N McElree, C Targan, SR Rotter, JI
Citation: H. Yang et al., Linkage of Crohn's disease to the major histocompatibility complex region is detected by multiple non-parametric analyses, GUT, 44(4), 1999, pp. 519-526
Risultati: 1-25 | 26-29