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Page 1
Causes of hearing loss and implantation age in a cohort of Danish pediatric cochlear implant recipients.
Friis IJ, Aaberg K, Edholm B. Friis IJ, et al. Int J Pediatr Otorhinolaryngol. 2023 Aug;171:111640. doi: 10.1016/j.ijporl.2023.111640. Epub 2023 Jul 1. Int J Pediatr Otorhinolaryngol. 2023. PMID: 37441990
CONCLUSIONS: In the current study, the major causes of HL were alterations in the SLC26A4 gene: 13% with Pendred syndrome and 1% non-syndromic. Thirty-one (31%) had HL of unknown origin and almost half of these cases had inner ear malformations (n = 16)....
CONCLUSIONS: In the current study, the major causes of HL were alterations in the SLC26A4 gene: 13% with Pendred syndrome and …
A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.
Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K. Fujioka M, et al. Medicine (Baltimore). 2020 May;99(19):e19763. doi: 10.1097/MD.0000000000019763. Medicine (Baltimore). 2020. PMID: 32384426 Free PMC article. Clinical Trial.
INTRODUCTION: Pendred syndrome (PDS)/DFNB 4 is a disorder with fluctuating and progressive hearing loss, vertigo, and thyroid goiter. ...TRIAL REGISTRATION NUMBER: JMA-IIA00361; Pre-results....
INTRODUCTION: Pendred syndrome (PDS)/DFNB 4 is a disorder with fluctuating and progressive hearing loss, vertigo, and thyroid …
A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family.
Pourahmadiyan A, Alipour P, Fattahi N, Kasiri M, Rezaeian F, Taghipour-Sheshdeh A, Mohammadi-Asl J, Tabatabaiefar MA, Hashemzadeh Chaleshtori M. Pourahmadiyan A, et al. Int J Audiol. 2019 Oct;58(10):628-634. doi: 10.1080/14992027.2019.1619945. Epub 2019 Jun 12. Int J Audiol. 2019. PMID: 31187663
Therefore, to determine whether the variant was specifically associated with Pendred Syndrome (PDS) or DFNB4, biochemical analyses, PTA, thyroid scans by Tc99m, perchlorate discharge test and high-resolution CT scan of the temporal bone were carried out on the affec …
Therefore, to determine whether the variant was specifically associated with Pendred Syndrome (PDS) or DFNB4, biochemical anal …
Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.
Mikkelsen KS, Tranebjærg L, Mey K. Mikkelsen KS, et al. Cochlear Implants Int. 2019 Mar;20(2):100-103. doi: 10.1080/14670100.2018.1550849. Epub 2018 Nov 28. Cochlear Implants Int. 2019. PMID: 30484383
SLC26A4 mutations are associated with variable degrees of SNHL and enlarged vestibular aqueducts (EVA), identified either as non-syndromic EVA or classic Pendred syndrome; the latter also associated with thyroid dysfunction. The inner ear malformations in this group …
SLC26A4 mutations are associated with variable degrees of SNHL and enlarged vestibular aqueducts (EVA), identified either as non-syndromic E …
HASHIMOTO THYROIDITIS AND VESTIBULAR DYSFUNCTION.
Chiarella G, Russo D, Monzani F, Petrolo C, Fattori B, Pasqualetti G, Cassandro E, Costante G. Chiarella G, et al. Endocr Pract. 2017 Jul;23(7):863-868. doi: 10.4158/EP161635.RA. Epub 2017 May 23. Endocr Pract. 2017. PMID: 28534686 Review.
In recent years, two well-designed prospective studies have provided convincing evidence that the association is not random. One article reported that patients with Meniere disease (MD) had a significantly higher prevalence of positive anti-thyroid autoantibody as compared …
In recent years, two well-designed prospective studies have provided convincing evidence that the association is not random. One arti …
An unfortunate case of Pendred syndrome.
Sanei-Moghaddam A, Wilson T, Kumar S, Gray R. Sanei-Moghaddam A, et al. J Laryngol Otol. 2011 Sep;125(9):965-7. doi: 10.1017/S0022215111001630. Epub 2011 Jul 12. J Laryngol Otol. 2011. PMID: 21745434 Review.
METHOD: Case report and review of the English language literature concerning Pendred syndrome and cochlear implantation in Pendred syndrome patients. RESULT: Pendred syndrome is an autosomal recessive disorder which mainly affects the inn …
METHOD: Case report and review of the English language literature concerning Pendred syndrome and cochlear implantation in …
Absence of primary hypothyroidism and goiter in Slc26a4 (-/-) mice fed on a low iodine diet.
Calebiro D, Porazzi P, Bonomi M, Lisi S, Grindati A, De Nittis D, Fugazzola L, Marinò M, Bottà G, Persani L. Calebiro D, et al. J Endocrinol Invest. 2011 Sep;34(8):593-8. doi: 10.3275/7262. Epub 2010 Sep 9. J Endocrinol Invest. 2011. PMID: 20834201
BACKGROUND: Mutations in the SLC26A4 gene, coding for the anion transporter pendrin, are responsible for Pendred syndrome, characterized by congenital sensorineural deafness and dyshormonogenic goiter. ...These experimental data, together with those coming from a re …
BACKGROUND: Mutations in the SLC26A4 gene, coding for the anion transporter pendrin, are responsible for Pendred syndrome, cha …
Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene.
Banghova K, Cinek O, Al Taji E, Zapletalova J, Vidura R, Lebl J. Banghova K, et al. J Pediatr Endocrinol Metab. 2008 Dec;21(12):1179-84. doi: 10.1515/jpem.2008.21.12.1179. J Pediatr Endocrinol Metab. 2008. PMID: 19189692
We report a young woman with genetically confirmed Pendred syndrome and discuss the current therapeutic strategies of dyshormonogenetic goitre. ...It is known that dyshormonogenetic goitres have a tendency to grow despite appropriate treatment with L-thyroxine. Mana …
We report a young woman with genetically confirmed Pendred syndrome and discuss the current therapeutic strategies of dyshormo …
15 results