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■ Abbreviation / Long Form : PS / Pendred syndrome

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Total Number of Papers: 39
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Abbreviation:   PS  (>> Co-occurring Abbreviation)
Long Form:   Pendred syndrome
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No. Year Title Co-occurring Abbreviation
2016 Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications. CI, NSEVA
2016 Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging. EVA, HL
2016 Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism. CH, EVA
2015 The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. STRs
2014 Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. PDT
2014 Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication. ER
2013 A novel synonymous mutation causing complete skipping of exon 16 in the SLC26A4 gene in a Korean family with hearing loss. BDGP, DVA
2013 Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome. CT, EVA, qRT-PCR
2013 Screening of SLC26A4 gene in autoimmune thyroid diseases. AITD, GD, HT
10  2013 SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct. EVA
11  2012 A novel insertion-induced frameshift mutation of the SLC26A4 gene in a Korean family with Pendred syndrome. EVA
12  2012 Novel mutations in the SLC26A4 gene. EVA, mitDNA
13  2011 SLC26A4 expression among autoimmune thyroid tissues. AITD, FTC, GD, HT, MNG, MTC, PTC, Tg
14  2011 SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. EVA, NSEVA
15  2010 A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. ---
16  2010 SLC26A4 variations among Graves' hyper-functioning thyroid gland. AITD, EVA, GD, HT, NSHL
17  2010 Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). EVA, MD, NSHL
18  2010 Two missense mutations in SLC26A4 gene: a molecular and functional study. HL
19  2009 Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. ---
20  2009 Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister. RTH
21  2009 Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. ---
22  2008 A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. EVA
23  2008 Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene. EVA
24  2008 Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. FT3
25  2008 Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct. EVAS
26  2008 [Phenotypic evaluation of patients with Pendred syndrome]. ---
27  2007 Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan. H723R, S448L
28  2007 Genotype-phenotype correlations for SLC26A4-related deafness. EVA, SNHL
29  2007 High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein. SNHL
30  2007 Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). EVA
31  2006 Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. TPO
32  2006 Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and Pendred syndrome diagnosis. EED, EES, EVAs, HL
33  2006 New insights into the role of pendrin (SLC26A4) in inner ear fluid homeostasis. ---
34  2005 Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features. LVAS
35  2004 Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. ---
36  2004 The immunohistochemical analysis of pendrin in the mouse inner ear. PDS, Pds
37  2002 Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation. ---
38  2001 Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. ---
39  1999 Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. ---