SLC26A4 Genotypes and Phenotypes Associated with Enlargement of the Vestibular Aqueduct

The Role of Pendrin in the Development of the Murine Inner Ear

(2011) Philine Wangemann   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Identification of SLC26A4 Mutations in Patients with Hearing Loss and Enlarged Vestibular Aqueduct Using High-Resolution Melting Curve Analysis

(2011) Stephen Mercer et al.   Genetic Testing and Molecular Biomarkers

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

(2010) Laurence Jonard et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome

(2009) Tao Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluation of the Thyroid in Patients With Hearing Loss and Enlarged Vestibular Aqueducts

(2009) Anne C. Madeo et al.   ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY

Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome

(2009) Chen-Chi Wu et al.   AUDIOLOGY AND NEURO-OTOLOGY

Response to: The c.−103T>C variant in the 5′-UTR ofSLC26A4gene: a pathogenic mutation or coincidental polymorphism?

(2009) Byung Yoon Choi et al.   HUMAN MUTATION

The c.−103T>C variant in the 5′-UTR ofSLC26A4gene: a pathogenic mutation or coincidental polymorphism?

(2009) Tao Yang et al.   HUMAN MUTATION

Hypo-FunctionalSLC26A4variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

(2009) Byung Yoon Choi et al.   HUMAN MUTATION

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes

(2009) B Y Choi et al.   JOURNAL OF MEDICAL GENETICS

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome

(2009) Silvia Dossena et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Temporal bone abnormalities associated with hearing loss in waardenburg syndrome

(2003) Colm Madden et al.   LARYNGOSCOPE