Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2001-1-26
pubmed:abstractText
Using linkage analysis, we identified a novel dominant locus, DFNA25, for delayed-onset, progressive, high-frequency, nonsyndromic sensorineural hearing loss in a large, multigenerational United States family of Czech descent. On the basis of recombinations in affected individuals, we determined that DFNA25 is located in a 20-cM region of chromosome 12q21-24 between D12S327 (centromeric) and D12S84 (telomeric), with a maximum two-point LOD score of 6.82, at recombination fraction.041, for D12S1030. Candidate genes in this region include ATP2A2, ATP2B1, UBE3B, and VR-OAC. DFNA25 may be the human ortholog of bronx waltzer (bv).
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-10080178, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-10793008, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-10962193, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-11081638, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-1674727, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-1952587, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-3365524, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-5006530, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-6587361, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-8595423, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-8634327, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-8817303, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-8849440, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-8979035, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-9012420, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-9106521, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-9139825, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-9321462, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-9697703, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-9718341, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-9843209, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-9843210, http://linkedlifedata.com/resource/pubmed/commentcorrection/11115382-9949203
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
68
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
254-60
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed-meshheading:11115382-Adult, pubmed-meshheading:11115382-Age of Onset, pubmed-meshheading:11115382-Child, Preschool, pubmed-meshheading:11115382-Chromosome Mapping, pubmed-meshheading:11115382-Chromosomes, Human, Pair 12, pubmed-meshheading:11115382-Czechoslovakia, pubmed-meshheading:11115382-Female, pubmed-meshheading:11115382-Gene Frequency, pubmed-meshheading:11115382-Genes, Dominant, pubmed-meshheading:11115382-Haplotypes, pubmed-meshheading:11115382-Hearing Loss, Sensorineural, pubmed-meshheading:11115382-Humans, pubmed-meshheading:11115382-Lod Score, pubmed-meshheading:11115382-Lymphocytes, pubmed-meshheading:11115382-Male, pubmed-meshheading:11115382-Models, Genetic, pubmed-meshheading:11115382-Pedigree, pubmed-meshheading:11115382-Penetrance, pubmed-meshheading:11115382-Presbycusis, pubmed-meshheading:11115382-Syndrome, pubmed-meshheading:11115382-United States
pubmed:year
2001
pubmed:articleTitle
DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.
pubmed:affiliation
Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, MI, 48109, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't