Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss

Otolaryngology - Head and Neck Surgery (United States)

Volumn 149, Issue 3, 2013, Pages 478-487

  Shahzad, Mohsin ^a   Sivakumaran, Theru A ^a,b   Qaiser, Tanveer A ^c   Schultz, Julie M ^d   Hussain, Zawar ^c   Flanagan, Megan ^a   Bhinder, Munir A ^c   Kissell, Diane ^a   Greinwald Jr , John H ^a   Khan, Shaheen N ^c   Friedman, Thomas B ^d   Zhang, Kejian ^a,b   Riazuddin, Saima ^a,c   Riazuddin, Sheikh ^e,f   Ahmed, Zubair M ^a,c  

^a CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

^b UNIVERSITY OF CINCINNATI   (United States)

^c UNIVERSITY OF THE PUNJAB   (Pakistan)

^d NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^e UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^f UNIVERSITY OF LAHORE   (Pakistan)

Author keywords

CDH23; clinical diagnosis; genetic etiology; hearing loss; microdroplet PCR; MYO7A; next generation sequencing; PDS; Usher syndrome

Indexed keywords

CADHERIN 23; MYOSIN VIIA; PENDRIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL EVALUATION; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; FLUORESCENCE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE SEGREGATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC MARKER; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEARING IMPAIRMENT; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; OTOSEQ; PERCEPTION DEAFNESS; PHENOTYPE; PROSPECTIVE STUDY; PURE TONE AUDIOMETRY; SANGER SEQUENCING; SHORT TANDEM REPEAT; USHER SYNDROME;

CDH23; CLINICAL DIAGNOSIS; GENETIC ETIOLOGY; HEARING LOSS; MICRODROPLET PCR; MYO7A; NEXT-GENERATION SEQUENCING; PDS; USHER SYNDROME;

ALLELES; CADHERINS; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MICROSATELLITE REPEATS; MUTATION; MYOSINS; PAKISTAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES; USHER SYNDROMES;

EID: 84884385307     PISSN: 01945998     EISSN: 10976817     Source Type: Journal    
DOI: 10.1177/0194599813493075     Document Type: Article

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