Mapping and Cloning of Genes for Inherited Hearing Impairment
暂无分享,去创建一个
[1] Christine E. Seidman,et al. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction , 1998, Nature Genetics.
[2] G. Mollet,et al. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. , 1998, American journal of human genetics.
[3] P. Lijnzaad,et al. A physical map of 30,000 human genes. , 1998, Science.
[4] G. Richardson,et al. Nonsyndromic hearing impairment is associated with a mutation in DFNA5 , 1998, Nature Genetics.
[5] D. Kelsell,et al. Connexin mutations in deafness , 1998, Nature.
[6] J. McGee,et al. Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome , 1998, Hearing Research.
[7] Y. Raphael,et al. Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene. , 1998, Science.
[8] C. Morton,et al. Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. , 1998, Science.
[9] C. Nusbaum,et al. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. , 1998, Science.
[10] J. W. Askew,et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. , 1998, American journal of human genetics.
[11] J. Lupski,et al. Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2. , 1998, American journal of human genetics.
[12] V. Sheffield,et al. Connexin mutations and hearing loss , 1998, Nature.
[13] J. Battey,et al. Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. , 1997, Genomics.
[14] V. Sheffield,et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) , 1997, Nature Genetics.
[15] Leonid Kruglyak,et al. The use of a genetic map of biallelic markers in linkage studies , 1997, Nature Genetics.
[16] J. Baker,et al. Genotypic selection of mutated DNA sequences using mismatch cleavage analysis, a possible basis for novel mutation assays. , 1997, Mutagenesis.
[17] J. Nathans,et al. Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[18] C. Woods,et al. Potassium permanganate and tetraethylammonium chloride are a safe and effective substitute for osmium tetroxide in solid-phase fluorescent chemical cleavage of mismatch. , 1997, Nucleic acids research.
[19] D. Kelsell,et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness , 1997, nature.
[20] J. Weissenbach,et al. A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family , 1997, Nature Genetics.
[21] F. Ayala,et al. Assessing dissimilarity of genes by comparing their RNAse A mismatch cleavage patterns. , 1996, Genetics.
[22] P. Deloukas,et al. A Gene Map of the Human Genome , 1996, Science.
[23] J. Lupski,et al. A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. , 1996, Genomics.
[24] F Greenberg,et al. Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. , 1996, American journal of human genetics.
[25] P. Modrich,et al. Mutation detection with MutH, MutL, and MutS mismatch repair proteins. , 1996, Proceedings of the National Academy of Sciences of the United States of America.
[26] Cécile Fizames,et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites , 1996, Nature.
[27] R. Friedman. Transgenic insertional mutagenesis. Applications to inner-ear genetics. , 1996, Archives of otolaryngology--head & neck surgery.
[28] E. Lander,et al. Mapping the mouse genome: current status and future prospects. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[29] Gregory D. Schuler,et al. ESTablishing a human transcript map , 1995, Nature Genetics.
[30] J. Sikela,et al. Gene–based sequence–tagged–sites (STSs) as the basis for a human gene map , 1995, Nature Genetics.
[31] P. Meltzer,et al. Identification of 3'-terminal exons from yeast artificial chromosomes. , 1995, PCR methods and applications.
[32] M Bitner-Glindzicz,et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4 , 1995, Science.
[33] M. Daly,et al. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. , 1995, American journal of human genetics.
[34] F. Bieber,et al. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. , 1994, Genomics.
[35] S. Brown. Integrating maps of the mouse genome. , 1994, Current opinion in genetics & development.
[36] Cécile Fizames,et al. The 1993–94 Généthon human genetic linkage map , 1994, Nature Genetics.
[37] Jurg Ott,et al. Handbook of Human Genetic Linkage , 1994 .
[38] S. Altschul,et al. Issues in searching molecular sequence databases , 1994, Nature Genetics.
[39] E. Lander,et al. A genetic linkage map of the mouse: current applications and future prospects. , 1993, Science.
[40] S. Paulo.,et al. Autozygosity mapping, complex consanguinity, and autosomal recessive disorders. , 1993, Journal of medical genetics.
[41] M. Boguski,et al. dbEST — database for “expressed sequence tags” , 1993, Nature Genetics.
[42] D. Vetrie,et al. Construction of a yeast artificial chromosome contig encompassing the human alpha 5(IV) collagen gene (COL4A5). , 1992, Genomics.
[43] G. Gyapay,et al. A second-generation linkage map of the human genome , 1992, Nature.
[44] M. King,et al. The gene for an inherited form of deafness maps to chromosome 5q31. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[45] C. Baldwin,et al. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome , 1992, Nature.
[46] R. Balling,et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene , 1992, Nature.
[47] S. O’Brien,et al. Detecting single base substitutions as heteroduplex polymorphisms. , 1992, Genomics.
[48] A. Kerlavage,et al. Complementary DNA sequencing: expressed sequence tags and human genome project , 1991, Science.
[49] R. Myers,et al. Exon trapping: a genetic screen to identify candidate transcribed sequences in cloned mammalian genomic DNA. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[50] E. Myers,et al. Basic local alignment search tool. , 1990, Journal of molecular biology.
[51] A. Read,et al. Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. , 1990, American journal of human genetics.
[52] D. Le Paslier,et al. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[53] J. Riley,et al. A 3.5 genome equivalent multi access YAC library: construction, characterisation, screening and storage. , 1990, Nucleic acids research.
[54] Y. Lau,et al. A PCR artifact: generation of heteroduplexes. , 1989, American journal of human genetics.
[55] N. Niikawa,et al. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). , 1989, American journal of medical genetics.
[56] T. Sekiya,et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[57] J. Weber,et al. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. , 1989, American journal of human genetics.
[58] M. Frohman,et al. Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[59] R. D. Campbell,et al. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[60] R. Butkowski,et al. Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane. , 1987, The Journal of clinical investigation.
[61] E S Lander,et al. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. , 1987, Science.
[62] A. Michael,et al. Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis. , 1986, The Journal of clinical investigation.
[63] R. Myers,et al. Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. , 1985, Nucleic acids research.
[64] L. Lerman,et al. Length-independent separation of DNA restriction fragments in two-dimensional gel electrophoresis , 1979, Cell.
[65] J. Gómez-Márquez. [Vascular trauma. Our experience with 43 cases]. , 1966, Revista medica hondurena.
[66] R. Cotton,et al. Chemical cleavage of mismatch: A new look at an established method , 1998, Human mutation.
[67] C. Cremers,et al. Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. , 1997, Genetic testing.
[68] J. Lupski,et al. Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. , 1997, Genomics.
[69] A. Faerman,et al. Transgenic mice: production and analysis of expression. , 1997, Methods in cell biology.
[70] A. Markham,et al. Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. , 1996, Human molecular genetics.
[71] D. Church,et al. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification , 1994, Nature Genetics.
[72] J. Weissenbach,et al. A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q , 1994, Nature Genetics.
[73] K. Tryggvason,et al. Molecular genetics of Alport syndrome. , 1993, Kidney international.
[74] V. Sheffield,et al. Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. , 1989, Proceedings of the National Academy of Sciences of the United States of America.