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Results: 1-10 |
Results: 10
Auditory dysfunction in Stickler syndrome
Authors: Szymko-Bennett, YM Mastroianni, MA Shotland, LI Davis, J Ondrey, FG Balog, JZ Rudy, SF McCullagh, L Levy, HP Liberfarb, RM Francomano, CA Griffith, AJ
Citation: Ym. Szymko-bennett et al., Auditory dysfunction in Stickler syndrome, ARCH OTOLAR, 127(9), 2001, pp. 1061-1068
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
Authors: Wilcox, ER Burton, QL Naz, S Riazuddin, S Smith, TN Ploplis, B Belyantseva, I Ben-Yosef, T Liburd, NA Morell, RJ Kachar, B Wu, DK Griffith, AJ Riazuddin, S Friedman, TB
Citation: Er. Wilcox et al., Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29, CELL, 104(1), 2001, pp. 165-172
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F
Authors: Ahmed, ZM Riazuddin, S Bernstein, SL Ahmed, Z Khan, S Griffith, AJ Morell, RJ Friedman, TB Riazuddin, S Wilcox, ER
Citation: Zm. Ahmed et al., Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F, AM J HU GEN, 69(1), 2001, pp. 25-34
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 arecaused by allelic mutations of the novel cadherin-like gene CDH23
Authors: Bork, JM Peters, LM Riazuddin, S Bernstein, SL Ahmed, ZM Ness, SL Polomeno, R Ramesh, A Schloss, M Srisailpathy, CRS Wayne, S Bellman, S Desmukh, D Ahmed, Z Khan, SN Kaloustian, VMD Li, XC Lalwani, A Riazuddin, S Bitner-Glindzicz, M Nance, WE Liu, XZ Wistow, G Smith, RJH Griffith, AJ Wilcox, ER Friedman, TB Morell, RJ
Citation: Jm. Bork et al., Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 arecaused by allelic mutations of the novel cadherin-like gene CDH23, AM J HU GEN, 68(1), 2001, pp. 26-37
Dominant modifier DFNM1 suppresses recessive deafness DFNB26
Authors: Riazuddin, S Castelein, CM Ahmed, ZM Lalwani, AK Mastroianni, MA Naz, S Smith, TN Liburd, NA Friedman, TB Griffith, AJ Riazuddin, S Wilcox, ER
Citation: S. Riazuddin et al., Dominant modifier DFNM1 suppresses recessive deafness DFNB26, NAT GENET, 26(4), 2000, pp. 431-434
Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome
Authors: Griffith, AJ Gebarski, SS Shepard, NT Kileny, PR
Citation: Aj. Griffith et al., Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome, ARCH OTOLAR, 126(7), 2000, pp. 891-894
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT
Authors: Griffith, AJ Chowdhry, AA Kurima, K Hood, LJ Keats, B Berlin, CI Morell, RJ Friedman, TB
Citation: Aj. Griffith et al., Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT, AM J HU GEN, 67(3), 2000, pp. 745-749
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
Authors: McGuirt, WT Prasad, SD Griffith, AJ Kunst, HPM Green, GE Shpargel, KB Runge, C Huybrechts, C Mueller, RF Lynch, E King, MC Brunner, HG Cremers, CWRJ Takanosu, M Li, SW Arita, M Mayne, R Prockop, DJ Van Camp, G Smith, RJH
Citation: Wt. Mcguirt et al., Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13), NAT GENET, 23(4), 1999, pp. 413-419
Making sense out of sound
Authors: Griffith, AJ Friedman, TB
Citation: Aj. Griffith et Tb. Friedman, Making sense out of sound, NAT GENET, 21(4), 1999, pp. 347-349
Optic, olfactory, and vestibular dysmorphogenesis in the homozygous mouse insertional mutant Tg9257
Authors: Griffith, AJ Ji, WZ Prince, ME Altschuler, RA Meisler, MH
Citation: Aj. Griffith et al., Optic, olfactory, and vestibular dysmorphogenesis in the homozygous mouse insertional mutant Tg9257, J CRAN GENE, 19(3), 1999, pp. 157-163
Risultati: 1-10 |