Výsledky vyhledávání - "J. B. Kenyon"

Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family

Autor: K. Weipoltshammer, Franz Wachtler, P. Franz, Denise M. Hoover, J. B. Kenyon, Karin Kirschhofer, William J. Kimberling

Publikováno v: Cytogenetic and Genome Research. 82:126-130

A four-generation family suffering from an autosomal-dominant, congenital, nonprogressive, nonsyndromic hearing loss was found in a rural region of Austria. The hearing loss was moderate to severe, a pure tone audiogram showing a U-shaped form with m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb90e67271fd0f9428156bc5e6cc21d0
https://doi.org/10.1159/000015086

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Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene toa 1.25 Mb region on chromosome 1p

Autor: P. van Hauwe, Frank Declau, Richard J.H. Smith, Henri A. M. Marres, M. van Ewijk, G. Van Camp, Cor W. R. J. Cremers, P. Van de Heyning, D. van Velzen, Isabelle Schatteman, Paul Coucke, P.H.G.M. Willems, J. B. Kenyon, J. Meyers, Bulantrisna Djelantik, Shelley D. Smith, Henricus P. M. Kunst

Publikováno v: Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 70-74
STARTPAGE=70;ENDPAGE=74;ISSN=0888-7543;TITLE=Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 41, 1, pp. 70-83
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 41, pp. 70-74
Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, 41, 70-83
Genomics: international journal of gene mapping and nucleotide sequencing

Thus far, 13 genes for autosomal dominant hearing loss have been localized to specific chromosomal regions, but none of the genes has been cloned. Only a single family has been linked to each of these loci, with the exception of DFNA2. DFNA2 was orig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baea333ab9f83752d831374fc14fbdfd
https://hdl.handle.net/2066/142538

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Linkage of usher syndrome type I gene (USH1B) to the long arm of chromosome 11

Autor: Richard J.H. Smith, A. M. Brower, Claes Möller, J. A. Grunkemeyer, D. J. Blackwood, L. D. Overbeck, Denise M. Hoover, Peter Beighton, S. Pieke Dahl, Michael D. Weston, P. Rowland, William Reardon, I. A. Priluck, S. Davenport, J. B. Kenyon, Jacquie Greenberg, William J. Kimberling

Publikováno v: Genomics. 14:988-994

Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05e92b4635fa6b3f8c0c0cc2b6209e7c
https://doi.org/10.1016/s0888-7543(05)80121-1

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Localization of the gene for branchiootorenal syndrome to chromosome 8q

Autor: Kevin B. Coppage, Kimberly Comeau, Richard J.H. Smith, J. B. Kenyon, Dwayne T. Capper, Sue Tinley, Shrawan Kumar, Jennifer K.B. Ankerstjerne, William J. Kimberling

Publikováno v: Genomics. 14:841-844

Branchiootorenal syndrome is an autosomal dominant disorder that affects an estimated 2% of profoundly deaf children. In addition to hearing impairment, it is characterized by a lop-ear deformity, preauricular pits, branchial cleft sinus tracts, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f439b960961e02e545e99ff0a4de8808
https://doi.org/10.1016/s0888-7543(05)80102-8

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Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family

Autor: Cor W. R. J. Cremers, Henri A. M. Marres, William J. Kimberling, Shrawan Kumar, Richard J.H. Smith, J. B. Kenyon

Publikováno v: Human Molecular Genetics. 1:491-495

Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder with variable clinical manifestations affecting branchial, renal and auditory development. Varying clinical expression of the disease between different families suggests that multipl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f494f9cbe0b455cf03fd0d933847b04
https://doi.org/10.1093/hmg/1.7.491

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Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation

Autor: J. B. Kenyon, William J. Kimberling, Hideichi Shinkawa, Satoshi Horai, Satoko Abe, Shin-ichi Usami, L. D. Overbeck, Denise M. Hoover, Michael D. Weston

Publikováno v: European journal of human genetics : EJHG. 6(6)

Thirteen Japanese families (ten of which were from the northern part of Japan), with sensorineural hearing loss associated with the 1555 A to G (A1555G) mitochondrial mutation, a known cause of non-syndromic hearing loss, were phylogenetically analys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3531d190a0674cdef1d2099355803f30
https://pubmed.ncbi.nlm.nih.gov/9887373

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Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation

Autor: Satoko Abe, J. B. Kenyon, Benjamin Moeller, Miyo Kasai, Hideichi Shinkawa, Shin-ichi Usami, William J. Kimberling

Publikováno v: The Laryngoscope. 107(4)

Five Japanese families showing aminoglycoside-induced hearing loss were genetically as well as clinically investigated. A mitochondrial mutation at nucleotide 1555 was found in 28 out of 32 subjects. One hundred American control subjects did not show

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9087dd9af7d4eb6395258d3367133e9d
https://pubmed.ncbi.nlm.nih.gov/9111378

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A novel locus for autosomal dominant non-syndromic hearing loss, DFNA13, maps to chromosome 6p

Autor: Richard J.H. Smith, M.S. Tomek, Matthew R. Brown, Shelley D. Smith, J. B. Kenyon, G. Van Camp, L. Van Laer

Publikováno v: The American journal of human genetics

SummaryNonsyndromic hearing loss (NSHL) is the most common type of hearing impairment in the elderly. Environmental and hereditary factors play an etiologic role, although the relative contribution of each is unknown. To date, 39 NSHL genes have been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8b77611e17220a21987b2d8b4fdb14d
https://hdl.handle.net/10067/213630151162165141

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Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family

Autor: J. B. Kenyon, Shrawan Kumar, Patricia A. Gabow, William J. Kimberling

Publikováno v: Human genetics. 87(2)

Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20becad95c3cd2ad06b2bb631f4b310c
https://pubmed.ncbi.nlm.nih.gov/1676697

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