Inherited hearing loss: Molecular genetics and diagnostic testing

Expert Opinion on Medical Diagnostics

Volumn 2, Issue 3, 2008, Pages 231-248

  Vele, Oana ^a   Schrijver, Iris ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Connexin; Deafness; Hearing loss; Molecular diagnostics; Non syndromic; Sensorineural hearing loss; Syndromic

Indexed keywords

ACTIN; AMINOGLYCOSIDE ANTIBIOTIC AGENT; CELL MEMBRANE PROTEIN; COCHLIN; COLLAGEN TYPE 4; GAP JUNCTION PROTEIN; GENE PRODUCT; MERLIN; MITOCHONDRIAL DNA; MOLECULAR MOTOR; OTOFERLIN; PENDRIN; POTASSIUM CHANNEL KCNQ; POTASSIUM CHANNEL KCNQ4; PRESTIN; REACTIVE OXYGEN METABOLITE; RNA 12S; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL; VOLTAGE GATED SODIUM CHANNEL; WOLFRAMIN;

ALPORT SYNDROME; AUTOSOMAL DISORDER; BRANCHIOOTORENAL SYNDROME; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ACCURACY; EARLY DIAGNOSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HIDROTIC ECTODERMAL DYSPLASIA; HUMAN; LINKAGE ANALYSIS; LONG QT SYNDROME; MITOCHONDRIAL DNA DISORDER; MOHR TRANEBJAERG SYDROME; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; PENDRED SYNDROME; PERCEPTION DEAFNESS; PROTEIN EXPRESSION; PROTEIN FUNCTION; REAL TIME POLYMERASE CHAIN REACTION; REVIEW; STICKLER SYNDROME; USHER SYNDROME; WAARDENBURG SYNDROME; WOLFRAM SYNDROME; X CHROMOSOME LINKED DISORDER;

EID: 70349316991     PISSN: 17530059     EISSN: 17530067     Source Type: Journal    
DOI: 10.1517/17530059.2.3.231     Document Type: Review

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