20083784

Source:http://linkedlifedata.com/resource/pubmed/id/20083784

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0031437, umls-concept:C0163742, umls-concept:C0449258, umls-concept:C1384666, umls-concept:C1415077
pubmed:issue	1
pubmed:dateCreated	2010-1-19
pubmed:abstractText	To document the audiologic phenotype of children with biallelic GJB2 (connexin 26) mutations, and to correlate it with the genotype.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/R01 DC05248
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/8603209
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Connexins, http://linkedlifedata.com/resource/pubmed/chemical/connexin 26
pubmed:status	MEDLINE
pubmed:month	Jan
pubmed:issn	1538-361X
pubmed:author	pubmed-author:FeldmanHenry AHA, pubmed-author:FligorBrianB, pubmed-author:FrangulovAnnaA, pubmed-author:KennaMargaret AMA, pubmed-author:NeaultMarilyn WMW, pubmed-author:RehmHeidi LHL, pubmed-author:WuBai-LinBL
pubmed:issnType	Electronic
pubmed:volume	136
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	81-7
pubmed:meshHeading	pubmed-meshheading:20083784-Adolescent, pubmed-meshheading:20083784-Alleles, pubmed-meshheading:20083784-Audiometry, pubmed-meshheading:20083784-Chi-Square Distribution, pubmed-meshheading:20083784-Child, pubmed-meshheading:20083784-Child, Preschool, pubmed-meshheading:20083784-Connexins, pubmed-meshheading:20083784-Disease Progression, pubmed-meshheading:20083784-Female, pubmed-meshheading:20083784-Genetic Counseling, pubmed-meshheading:20083784-Genotype, pubmed-meshheading:20083784-Hearing Loss, Sensorineural, pubmed-meshheading:20083784-Humans, pubmed-meshheading:20083784-Infant, pubmed-meshheading:20083784-Infant, Newborn, pubmed-meshheading:20083784-Male, pubmed-meshheading:20083784-Mutation, pubmed-meshheading:20083784-Phenotype, pubmed-meshheading:20083784-Polymerase Chain Reaction, pubmed-meshheading:20083784-Prospective Studies, pubmed-meshheading:20083784-Young Adult
pubmed:year	2010
pubmed:articleTitle	Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.
pubmed:affiliation	Department of Otolaryngology and Communication Enhancement, Children's Hospital Boston, 300 Longwood Ave, LO-367, Boston, MA 02115, USA. margaret.kenna@childrens.harvard.edu
pubmed:publicationType	Journal Article, Research Support, N.I.H., Extramural