Pendred syndrome.
W Reardon, RC Trembath - Journal of medical genetics, 1996 - ncbi.nlm.nih.gov
Almost uniquely among syndromic forms of deafness, Pendred syndrome has been the
subject of wide rangingepidemiological study indicating that it may account for up to 7.5% of …
subject of wide rangingepidemiological study indicating that it may account for up to 7.5% of …
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.
E Gausden, B Coyle, JA Armour, R Coffey… - Journal of medical …, 1997 - jmg.bmj.com
Pendred syndrome is the association between congenital sensorineural deafness and
goitre. The disorder is characterised by the incomplete discharge of radioiodide from a …
goitre. The disorder is characterised by the incomplete discharge of radioiodide from a …
The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q
P Coucke, G Van Camp, O Demirhan, Y Kabakkaya… - Genomics, 1997 - Elsevier
Pendred syndrome is an autosomal recessive disorder characterized by goiter and
congenital deafness. The primary defect is not yet known, although the gene causing …
congenital deafness. The primary defect is not yet known, although the gene causing …
Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation
S Masmoudi, I Charfedine, M Hmani… - American journal of …, 2000 - Wiley Online Library
Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter, and
positive perchlorate discharge test. Recently, this autosomal recessive disorder was shown …
positive perchlorate discharge test. Recently, this autosomal recessive disorder was shown …
Two frequent missense mutations in Pendred syndrome
P Van Hauwe, LA Everett, P Coucke… - Human molecular …, 1998 - academic.oup.com
Pendred syndrome is an autosomal recessive disorder characterized by early childhood
deafness and goiter. A century after its recognition as a syndrome by Vaughan Pendred, the …
deafness and goiter. A century after its recognition as a syndrome by Vaughan Pendred, the …
Pendred syndrome: clinical characteristics and molecular basis
P Kopp - Current Opinion in Endocrinology, Diabetes and …, 1999 - journals.lww.com
Pendred syndrome (OMIM 274600) is an autosomal, recessive disorder defined by the triad
of congenital deafness, goiter, and positive perchlorate test. After the cloning of the Pendred …
of congenital deafness, goiter, and positive perchlorate test. After the cloning of the Pendred …
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome
CWRJ Cremers, RJC Admiraal, PLM Huygen… - International journal of …, 1998 - Elsevier
Long-term hearing threshold-on-age follow-up data, including non-linear regression
analysis, are given for 12 consecutive Pendred patients. The clinical diagnosis of Pendred's …
analysis, are given for 12 consecutive Pendred patients. The clinical diagnosis of Pendred's …
Pendred syndrome--100 years of underascertainment?
W Reardon, R Coffey, PD Phelps… - QJM: monthly journal …, 1997 - academic.oup.com
Pendred syndrome is an autosomal recessive condition classically characterized by
deafness and goitre. Since both cochlear and thyroid pathology are required to secure the …
deafness and goitre. Since both cochlear and thyroid pathology are required to secure the …
Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene
S Abe, S Usami, DM Hoover, E Cohn… - American journal of …, 1999 - Wiley Online Library
The most common form of inner ear abnormality, enlarged vestibular aqueduct (EVA), is of
particular interest because it is associated with characteristic clinical findings, including …
particular interest because it is associated with characteristic clinical findings, including …
Pendred's syndrome: identification of the genetic defect a century after its recognition
P Kopp - Thyroid, 1999 - liebertpub.com
Pendred's syndrome is an autosomal recessive disease characterized by goiter and
congenital sensorineural deafness. Most patients with Pendred's syndrome are euthyroid …
congenital sensorineural deafness. Most patients with Pendred's syndrome are euthyroid …