Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

Alagramam, 2001, The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene, Nat Genet, 27, 99, 10.1038/83837

Angst, 2001, The cadherin superfamily: diversity in form and function, J Cell Sci, 114, 629, 10.1242/jcs.114.4.629

Astuto, 2000, Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I, Am J Hum Genet, 67, 1569, 10.1086/316889

Bitner-Glindzicz, 2000, A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene, Nat Genet, 26, 56, 10.1038/79178

Bolz, 2001, Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D, Nat Genet, 27, 108, 10.1038/83667

Bork, 2001, Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23, Am J Hum Genet, 68, 26, 10.1086/316954

Boughman, 1983, Usher syndrome: definition and estimate of prevalence from two high-risk populations, J Chronic Dis, 36, 595, 10.1016/0021-9681(83)90147-9

Broman, 1998, Comprehensive human genetic maps: individual and sex-specific variation in recombination, Am J Hum Genet, 63, 861, 10.1086/302011

Burge, 1997, Prediction of complete gene structures in human genomic DNA, J Mol Biol, 268, 78, 10.1006/jmbi.1997.0951

Chaib, 1997, A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21, Hum Mol Genet, 6, 27, 10.1093/hmg/6.1.27

Correa-Rotter, 1992, Loading and transfer control for northern hybridization, Biotechniques, 12, 154

Di Palma, 2001, Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D, Nat Genet, 27, 103, 10.1038/83660

Ewing, 1998, Base-calling of automated sequencer traces using phred. II. Error probabilities, Genome Res, 8, 186, 10.1101/gr.8.3.186

Ewing, 1998, Base-calling of automated sequencer traces using phred. I. Accuracy assessment, Genome Res, 8, 175, 10.1101/gr.8.3.175

Friedman, 2000, Modifier genes of hereditary hearing loss, Curr Opin Neurobiol, 10, 487, 10.1016/S0959-4388(00)00120-3

Friedman, 1999, Unconventional myosins and the genetics of hearing loss, Am J Med Genet, 89, 147, 10.1002/(SICI)1096-8628(19990924)89:3<147::AID-AJMG5>3.0.CO;2-6

Gibson, 1995, A type VII myosin encoded by the mouse deafness gene shaker-1, Nature, 374, 62, 10.1038/374062a0

Gordon, 1998, Consed: a graphical tool for sequence finishing, Genome Res, 8, 195, 10.1101/gr.8.3.195

Grimberg, 1989, A simple and efficient non-organic procedure for the isolation of genomic DNA from blood, Nucleic Acids Res, 17, 8390, 10.1093/nar/17.20.8390

Grondahl, 1987, Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway, Clin Genet, 31, 255, 10.1111/j.1399-0004.1987.tb02804.x

Hallgren, 1959, Retinitis pigmentosa combined with congenital deafness, with vestibulo-cerebellar ataxia and neural abnormality in a proportion of cases, Acta Psychiat Scand S138, 34, 1

Kaplan, 1992, A gene for Usher syndrome type I (USH1A) maps to chromosome 14q, Genomics, 14, 979, 10.1016/S0888-7543(05)80120-X

Kimberling, 1992, Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11, Genomics, 14, 988, 10.1016/S0888-7543(05)80121-1

Kimberling, 1991, Genetic studies of Usher syndrome, Ann NY Acad Sci, 630, 167, 10.1111/j.1749-6632.1991.tb19585.x

Lander, 2001, Initial sequencing and analysis of the human genome, Nature, 409, 860, 10.1038/35057062

Libby, 2001, Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B, Invest Ophthalmol Vis Sci, 42, 770

Liu, 1998, Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice, Nat Genet, 19, 117, 10.1038/470

Liu, 1999, Myosin VIIa participates in opsin transport through the photoreceptor cilium, J Neurosci, 19, 6267, 10.1523/JNEUROSCI.19-15-06267.1999

Liu, 2001, Coincident onset of expression of myosin VIIa and opsin in the cilium of the developing photoreceptor cell, Exp Eye Res, 72, 351, 10.1006/exer.2000.0963

Liu, 1998, Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome, Am J Hum Genet, 63, 909, 10.1086/302026

Liu, 1997, Mutations in the myosin VIIA gene cause non-syndromic recessive deafness, Nat Genet, 16, 188, 10.1038/ng0697-188

Liu, 1997, Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene, Nat Genet, 17, 268, 10.1038/ng1197-268

Nickerson, 1997, PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing, Nucleic Acids Res, 25, 2745, 10.1093/nar/25.14.2745

Nollet, 2000, Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members, J Mol Biol, 299, 551, 10.1006/jmbi.2000.3777

Nuutila, 1970, Dystrophia retinae pigmentosa—dysacusis syndrome (DRD): a study of the Usher- or Hallgren syndrome, J Genet Hum, 18, 57

Raphael, 2001, Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice, Hear Res, 151, 237, 10.1016/S0378-5955(00)00233-1

Salamov, 2000, Ab initio gene finding in Drosophila genomic DNA, Genome Res, 10, 516, 10.1101/gr.10.4.516

Schaffer, 1996, Faster linkage analysis computations for pedigrees with loops or unused alleles, Hum Hered, 46, 226, 10.1159/000154358

Schaible, 1956, av, Mouse News Lett, 15, 29

Schultz, 2000, SMART: a web-based tool for the study of genetically mobile domains, Nucleic Acids Res, 28, 231, 10.1093/nar/28.1.231

Shapiro, 1999, The diversity of cadherins and implications for a synaptic adhesive code in the CNS, Neuron, 23, 427, 10.1016/S0896-6273(00)80796-5

Smith, 1994, Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium, Am J Med Genet, 50, 32, 10.1002/ajmg.1320500107

Smith, 1992, Localization of two genes for Usher syndrome type I to chromosome 11, Genomics, 14, 995, 10.1016/S0888-7543(05)80122-3

Solovyev, 1997, The Gene-Finder computer tools for analysis of human and model organisms genome sequences, 294

Verpy, 2000, A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C, Nat Genet, 26, 51, 10.1038/79171

Wayne, 1996, Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10, Hum Mol Genet, 5, 1689, 10.1093/hmg/5.10.1689

Wayne, 1997, Localization of the Usher syndrome type IF (Ush1F) to chromosome 10, Am J Hum Genet Suppl, 61, 1752

Weil, 1995, Defective myosin VIIA gene responsible for Usher syndrome type 1B, Nature, 374, 60, 10.1038/374060a0

Weil, 1997, The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene, Nat Genet, 16, 191, 10.1038/ng0697-191

Wu, 1999, A striking organization of a large family of human neural cadherin-like cell adhesion genes, Cell, 97, 779, 10.1016/S0092-8674(00)80789-8

Zhang, 1997, Identification of protein coding regions in the human genome by quadratic discriminant analysis, Proc Natl Acad Sci USA, 94, 565, 10.1073/pnas.94.2.565

Zhang, 1998, Protein sequence similarity searches using patterns as seeds, Nucleic Acids Res, 26, 3986, 10.1093/nar/26.17.3986