Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
暂无分享,去创建一个
J. Veltman | H. Kremer | Majida Charif | G. Nürnberg | P. Nürnberg | Yun Li | B. Wollnik | A. Barakat | C. Kubisch | Redouane Boulouiz | Ingelore Baessmann | M. Schraders | Simon von Ameln | R. Admiraal | M. Kandil | E. Pohl | M. Charif
[1] Mohsin Shahzad,et al. Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. , 2010, American journal of human genetics.
[2] A. Dror,et al. Hearing loss: mechanisms revealed by genetics and cell biology. , 2009, Annual review of genetics.
[3] Kuang-Yung Huang,et al. Phostensin caps to the pointed end of actin filaments and modulates actin dynamics. , 2009, Biochemical and biophysical research communications.
[4] U. Müller,et al. Mechanotransduction by Hair Cells: Models, Molecules, and Mechanisms , 2009, Cell.
[5] D. Stephan,et al. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. , 2009, American journal of human genetics.
[6] G. Bernardi,et al. Mapping Insertions, Deletions and SNPs on Venter's Chromosomes , 2009, PloS one.
[7] G. Nürnberg,et al. A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family , 2008, American journal of medical genetics. Part A.
[8] Steve D. M. Brown,et al. Quiet as a mouse: dissecting the molecular and genetic basis of hearing , 2008, Nature Reviews Genetics.
[9] K. Zerres,et al. Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings , 2007, Journal of Medical Genetics.
[10] L. Tarantino,et al. A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell Function , 2007, The Journal of Neuroscience.
[11] T. Walsh,et al. From flies' eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30 , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[12] Lon R. Cardon,et al. GRR: graphical representation of relationship errors , 2001, Bioinform..
[13] S. Lovett,et al. Instability of repetitive DNA sequences: The role of replication in multiple mechanisms , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[14] Nicolas Produit,et al. Parametric and nonparametric multipoint linkage analysis with imprinting and two-locus-trait models: application to mite sensitization. , 2000, American journal of human genetics.
[15] J R O'Connell,et al. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. , 1998, American journal of human genetics.
[16] V. Thomson,et al. Newborn Hearing Screening: The Great Omission , 1998, Pediatrics.
[17] L Kruglyak,et al. Parametric and nonparametric linkage analysis: a unified multipoint approach. , 1996, American journal of human genetics.
[18] N. E. MORTON,et al. Genetic Epidemiology of Hearing Impairment , 1991, Annals of the New York Academy of Sciences.
[19] S. Riazuddin,et al. DFNB79: reincarnation of a nonsyndromic deafness locus on chromosome 9q34.3 , 2010, European Journal of Human Genetics.
[20] Vickie Thomson,et al. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. , 2002, Pediatrics.
[21] Shinsei Minoshima,et al. Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness , 2001, Nature Genetics.