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Results: 1-19 |
Results: 19
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
Authors: Liburd, N Ghosh, M Riazuddin, S Naz, S Khan, S Ahmed, Z Riazuddin, S Liang, Y Menon, PSN Smith, T Smith, ACM Chen, KS Lupski, JR Wilcox, ER Potocki, L Friedman, TB
Citation: N. Liburd et al., Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome, HUM GENET, 109(5), 2001, pp. 535-541
Audiologic aspects of the search for DFNA20: A gene causing late-onset, progressive, sensorineural hearing loss
Authors: Elfenbein, JL Fisher, RA Wei, S Morell, RJ Stewart, C Friedman, TB Friderici, K
Citation: Jl. Elfenbein et al., Audiologic aspects of the search for DFNA20: A gene causing late-onset, progressive, sensorineural hearing loss, EAR HEAR, 22(4), 2001, pp. 279-288
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
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness
Authors: Ben-Yosef, T Wattenhofer, M Riazuddin, S Ahmed, ZM Scot, HS Kudoh, J Shibuya, K Antonarakis, SE Bonne-Tamir, B Radhakrishna, U Naz, S Ahmed, Z Riazuddin, S Pandya, A Nance, WE Wilcox, ER Friedman, TB Morell, RJ
Citation: T. Ben-yosef et al., Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness, J MED GENET, 38(6), 2001, pp. 396-400
Myosin XVA expression in the pituitary and in other neuroendocrine tissuesand tumors
Authors: Lloyd, RV Vidal, S Jin, L Zhang, SY Kovacs, K Horvath, E Scheithauer, BW Boger, ETA Fridell, RA Friedman, TB
Citation: Rv. Lloyd et al., Myosin XVA expression in the pituitary and in other neuroendocrine tissuesand tumors, AM J PATH, 159(4), 2001, pp. 1375-1382
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
The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells
Authors: Anderson, DW Probst, FJ Belyantseva, IA Fridell, RA Beyer, L Martin, DM Wu, D Kachar, B Friedman, TB Raphael, Y Camper, SA
Citation: Dw. Anderson et al., The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells, HUM MOL GEN, 9(12), 2000, pp. 1729-1738
A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25
Authors: Morell, RJ Friderici, KH Wei, SN Elfenbein, JL Friedman, TB Fisher, RA
Citation: Rj. Morell et al., A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25, GENOMICS, 63(1), 2000, pp. 1-6
DFNB3 families and shaker-2 mice: Mutations in an unconventional myosin, MYO15
Authors: Friedman, TB Hinnant, JT Fridell, RA Wilcox, ER Raphael, Y Camper, SA
Citation: Tb. Friedman et al., DFNB3 families and shaker-2 mice: Mutations in an unconventional myosin, MYO15, ADV OTO-RH, 56, 2000, pp. 131-144
OTOF encodes multiple long and short isoforms: Genetic evidence that the long ones underlie recessive deafness DFNB9
Authors: Yasunaga, S Grati, M Chardenoux, S Smith, TN Friedman, TB Lalwani, AK Wilcox, ER Petit, C
Citation: S. Yasunaga et al., OTOF encodes multiple long and short isoforms: Genetic evidence that the long ones underlie recessive deafness DFNB9, AM J HU GEN, 67(3), 2000, pp. 591-600
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
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
Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2
Authors: Liang, Y Wang, AH Belyantseva, IA Anderson, DW Probst, FJ Barber, TD Miller, W Touchman, JW Jin, L Sullivan, SL Sellers, JR Camper, SA Lloyd, RV Kachar, B Friedman, TB Fridell, RA
Citation: Y. Liang et al., Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2, GENOMICS, 61(3), 1999, pp. 243-258
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2)
Authors: Probst, FJ Chen, KS Zhao, Q Wang, AH Friedman, TB Lupski, JR Camper, SA
Citation: Fj. Probst et al., A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2), GENOMICS, 55(3), 1999, pp. 348-352
PAX3 gene structure, alternative splicing and evolution
Authors: Barber, TD Barber, MC Cloutier, TE Friedman, TB
Citation: Td. Barber et al., PAX3 gene structure, alternative splicing and evolution, GENE, 237(2), 1999, pp. 311-319
Unconventional myosins and the genetics of hearing loss
Authors: Friedman, TB Sellers, JR Avraham, KB
Citation: Tb. Friedman et al., Unconventional myosins and the genetics of hearing loss, AM J MED G, 89(3), 1999, pp. 147-157
Deafness and mutations in the connexin 26 gene - Reply
Authors: Morell, RJ Friedman, TB
Citation: Rj. Morell et Tb. Friedman, Deafness and mutations in the connexin 26 gene - Reply, N ENG J MED, 340(16), 1999, pp. 1288-1288
Risultati: 1-19 |