Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

1997 • 1,123 citations

The large vestibular aqueduct syndrome

1989 • 334 citations

Radiological malformations of the ear in pendred syndrome

1998 • 254 citations

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

1998 • 240 citations

Phenotypic manifestations of branchiootorenal syndrome

1995 • 200 citations

Two Frequent Missense Mutations in Pendred Syndrome

1998 • 188 citations

Pendred syndrome--100 years of underascertainment?

1997 • 182 citations

Enlarged Vestibular Aqueduct and Sensorineural Hearing Loss in Childhood

1995 • 121 citations

Large vestibular aqueduct and congenital sensorineural hearing loss

1992 • 99 citations

Familial Large Vestibular Aqueduct Syndrome

1996 • 94 citations

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

1998 • 82 citations

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the pendred gene

1999 • 69 citations

Three Familial Cases of Hearing Loss Associated with Enlargement of the Vestibular Aqueduct

1997 • 45 citations

Presentation of large vestibular aqueduct syndrome to a dizziness unit.

1992 • 37 citations

Otic capsule dysplasia: clinical and CT findings.

1990 • 35 citations

Large Vestibular Aqueduct Syndrome with Massive Endolymphatic Sacs

1995 • 31 citations

Enlargement of the vestibular aqueduct

1984 • 28 citations

CT-Scanning of the cochlea in Pendred's syndrome

1989 • 25 citations

The Gene for Pendred Syndrome Is Located between D7S501 and D7S692 in a 1.7-cM Region on Chromosome 7q

1997 • 25 citations

The variable intrafamiliar expressivity in Pendred's syndrome

1989 • 22 citations

Female Siblings with Pendred's Syndrome.

1994 • 8 citations

Deleted Work

1955 • 0 citations