Localization of the gene for branchiootorenal syndrome to chromosome 8q
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 renal anomalies. The pathogenesis of the disease r...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 1992-12, Vol.14 (4), p.841-844 |
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| container_title | Genomics (San Diego, Calif.) |
| container_volume | 14 |
| creator | Smith, Richard J.H. Coppage, Kevin B. Ankerstjerne, Jennifer K.B. Capper, Dwayne T. Kumar, Shrawan Kenyon, Judy Tinley, Sue Comeau, Kimberly Kimberling, William J. |
| description | 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 renal anomalies. The pathogenesis of the disease remains unknown; however, the defective gene has been localized to chromosome 8q by family linkage studies. |
| doi_str_mv | 10.1016/S0888-7543(05)80102-8 |
| format | Article |
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In addition to hearing impairment, it is characterized by a lop-ear deformity, preauricular pits, branchial cleft sinus tracts, and renal anomalies. The pathogenesis of the disease remains unknown; however, the defective gene has been localized to chromosome 8q by family linkage studies.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1016/S0888-7543(05)80102-8</identifier><identifier>PMID: 1478663</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>550400 - Genetics ; Abnormalities, Multiple - genetics ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; BODY ; Chromosome Mapping ; CHROMOSOMES ; Chromosomes, Human, Pair 8 ; Complex syndromes ; CONGENITAL DISEASES ; DISEASES ; DNA, Satellite ; Ear - abnormalities ; Female ; GENETIC MAPPING ; Hearing Disorders - genetics ; HEREDITARY DISEASES ; HUMAN CHROMOSOME 8 ; HUMAN CHROMOSOMES ; Humans ; Kidney - abnormalities ; KIDNEYS ; Male ; MAPPING ; Medical genetics ; Medical sciences ; ORGANS ; PATHOGENESIS ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Genetic ; SENSE ORGANS DISEASES ; Syndrome</subject><ispartof>Genomics (San Diego, Calif.), 1992-12, Vol.14 (4), p.841-844</ispartof><rights>1992 Academic Press, Inc. All rights reserved</rights><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c542t-cc7e4452fd0a3d202489353424816a663f002283af29838adb52313631fc32a63</citedby><cites>FETCH-LOGICAL-c542t-cc7e4452fd0a3d202489353424816a663f002283af29838adb52313631fc32a63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0888754305801028$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3536,27903,27904,65309</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4496900$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1478663$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/6483450$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Smith, Richard J.H.</creatorcontrib><creatorcontrib>Coppage, Kevin B.</creatorcontrib><creatorcontrib>Ankerstjerne, Jennifer K.B.</creatorcontrib><creatorcontrib>Capper, Dwayne T.</creatorcontrib><creatorcontrib>Kumar, Shrawan</creatorcontrib><creatorcontrib>Kenyon, Judy</creatorcontrib><creatorcontrib>Tinley, Sue</creatorcontrib><creatorcontrib>Comeau, Kimberly</creatorcontrib><creatorcontrib>Kimberling, William J.</creatorcontrib><title>Localization of the gene for branchiootorenal syndrome to chromosome 8q</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>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 renal anomalies. The pathogenesis of the disease remains unknown; however, the defective gene has been localized to chromosome 8q by family linkage studies.</description><subject>550400 - Genetics</subject><subject>Abnormalities, Multiple - genetics</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>BODY</subject><subject>Chromosome Mapping</subject><subject>CHROMOSOMES</subject><subject>Chromosomes, Human, Pair 8</subject><subject>Complex syndromes</subject><subject>CONGENITAL DISEASES</subject><subject>DISEASES</subject><subject>DNA, Satellite</subject><subject>Ear - abnormalities</subject><subject>Female</subject><subject>GENETIC MAPPING</subject><subject>Hearing Disorders - genetics</subject><subject>HEREDITARY DISEASES</subject><subject>HUMAN CHROMOSOME 8</subject><subject>HUMAN CHROMOSOMES</subject><subject>Humans</subject><subject>Kidney - abnormalities</subject><subject>KIDNEYS</subject><subject>Male</subject><subject>MAPPING</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>ORGANS</subject><subject>PATHOGENESIS</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>SENSE ORGANS DISEASES</subject><subject>Syndrome</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkd9rFDEQx4Mo9Vr9EwqLSNGH1cnPzT6JFG0LBz6ozyGXnXiRvaRNcoX613f39qiPfZoJ85nMzPdLyDmFTxSo-vwTtNZtJwX_APKjBgqs1S_IioLuW62EeklWT8hrclrKXwDouWYn5ISKTivFV-RqnZwdwz9bQ4pN8k3dYvMHIzY-5WaTbXTbkFJNGaMdm_IQh5x22NTUuO2UpTK_9N0b8srbseDbYzwjv79_-3V53a5_XN1cfl23TgpWW-c6FEIyP4DlAwMmdM8lF1Okyk4beQDGNLee9ZprO2wk45QrTr3jzCp-Rt4t_6ZSgykuVHRbl2JEV40SmgsJE3SxQLc53e2xVLMLxeE42ohpX0zHhQDKngep6pigMINyAV1OpWT05jaHnc0PhoKZ7TAHO8ystQFpDnYYPfWdHwfsNzsc_nct-k_198e6LZMPftY7lCdMiF71h_FfFgwnae8D5vlyjA6HkOfDhxSeWeQROx-kHQ</recordid><startdate>19921201</startdate><enddate>19921201</enddate><creator>Smith, Richard J.H.</creator><creator>Coppage, Kevin B.</creator><creator>Ankerstjerne, Jennifer K.B.</creator><creator>Capper, Dwayne T.</creator><creator>Kumar, Shrawan</creator><creator>Kenyon, Judy</creator><creator>Tinley, Sue</creator><creator>Comeau, Kimberly</creator><creator>Kimberling, William J.</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>OTOTI</scope></search><sort><creationdate>19921201</creationdate><title>Localization of the gene for branchiootorenal syndrome to chromosome 8q</title><author>Smith, Richard J.H. ; Coppage, Kevin B. ; Ankerstjerne, Jennifer K.B. ; Capper, Dwayne T. ; Kumar, Shrawan ; Kenyon, Judy ; Tinley, Sue ; Comeau, Kimberly ; Kimberling, William J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c542t-cc7e4452fd0a3d202489353424816a663f002283af29838adb52313631fc32a63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>550400 - Genetics</topic><topic>Abnormalities, Multiple - genetics</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>Biological and medical sciences</topic><topic>BODY</topic><topic>Chromosome Mapping</topic><topic>CHROMOSOMES</topic><topic>Chromosomes, Human, Pair 8</topic><topic>Complex syndromes</topic><topic>CONGENITAL DISEASES</topic><topic>DISEASES</topic><topic>DNA, Satellite</topic><topic>Ear - abnormalities</topic><topic>Female</topic><topic>GENETIC MAPPING</topic><topic>Hearing Disorders - genetics</topic><topic>HEREDITARY DISEASES</topic><topic>HUMAN CHROMOSOME 8</topic><topic>HUMAN CHROMOSOMES</topic><topic>Humans</topic><topic>Kidney - abnormalities</topic><topic>KIDNEYS</topic><topic>Male</topic><topic>MAPPING</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>ORGANS</topic><topic>PATHOGENESIS</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>SENSE ORGANS DISEASES</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Smith, Richard J.H.</creatorcontrib><creatorcontrib>Coppage, Kevin B.</creatorcontrib><creatorcontrib>Ankerstjerne, Jennifer K.B.</creatorcontrib><creatorcontrib>Capper, Dwayne T.</creatorcontrib><creatorcontrib>Kumar, Shrawan</creatorcontrib><creatorcontrib>Kenyon, Judy</creatorcontrib><creatorcontrib>Tinley, Sue</creatorcontrib><creatorcontrib>Comeau, Kimberly</creatorcontrib><creatorcontrib>Kimberling, William J.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>OSTI.GOV</collection><jtitle>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Smith, Richard J.H.</au><au>Coppage, Kevin B.</au><au>Ankerstjerne, Jennifer K.B.</au><au>Capper, Dwayne T.</au><au>Kumar, Shrawan</au><au>Kenyon, Judy</au><au>Tinley, Sue</au><au>Comeau, Kimberly</au><au>Kimberling, William J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Localization of the gene for branchiootorenal syndrome to chromosome 8q</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1992-12-01</date><risdate>1992</risdate><volume>14</volume><issue>4</issue><spage>841</spage><epage>844</epage><pages>841-844</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>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 renal anomalies. The pathogenesis of the disease remains unknown; however, the defective gene has been localized to chromosome 8q by family linkage studies.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>1478663</pmid><doi>10.1016/S0888-7543(05)80102-8</doi><tpages>4</tpages></addata></record> |
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| ispartof | Genomics (San Diego, Calif.), 1992-12, Vol.14 (4), p.841-844 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | 550400 - Genetics Abnormalities, Multiple - genetics BASIC BIOLOGICAL SCIENCES Biological and medical sciences BODY Chromosome Mapping CHROMOSOMES Chromosomes, Human, Pair 8 Complex syndromes CONGENITAL DISEASES DISEASES DNA, Satellite Ear - abnormalities Female GENETIC MAPPING Hearing Disorders - genetics HEREDITARY DISEASES HUMAN CHROMOSOME 8 HUMAN CHROMOSOMES Humans Kidney - abnormalities KIDNEYS Male MAPPING Medical genetics Medical sciences ORGANS PATHOGENESIS Pedigree Polymerase Chain Reaction Polymorphism, Genetic SENSE ORGANS DISEASES Syndrome |
| title | Localization of the gene for branchiootorenal syndrome to chromosome 8q |
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