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Page 1
Pendred syndrome.
Wémeau JL, Kopp P. Wémeau JL, et al. Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):213-224. doi: 10.1016/j.beem.2017.04.011. Epub 2017 May 10. Best Pract Res Clin Endocrinol Metab. 2017. PMID: 28648509 Review.
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. ...While there is no renal phenotype und
Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/h
Pendred syndrome.
Glaser B. Glaser B. Pediatr Endocrinol Rev. 2003 Dec;1 Suppl 2:199-204; discussion 204. Pediatr Endocrinol Rev. 2003. PMID: 16444159 Review.
Pendred Syndrome, first described in 1896, is phenotypically characterized as the coexistence of sensorineural deafness and enlarged goiter with elevated iodine discharge after perchlorate administration. ...The pathophysiology of the hearing loss associated with
Pendred Syndrome, first described in 1896, is phenotypically characterized as the coexistence of sensorineural deafness and en
Unresolved questions regarding human hereditary deafness.
Rehman AU, Friedman TB, Griffith AJ. Rehman AU, et al. Oral Dis. 2017 Jul;23(5):551-558. doi: 10.1111/odi.12516. Epub 2016 Jul 11. Oral Dis. 2017. PMID: 27259978 Free PMC article. Review.
The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome/DFNB4 (PDS, OMIM 274600), (ii) Perrault syndrome (deafness and infertility) due to mutations of CLPP (PRTLS3, OMIM 614129), and (iii) the unexplained extensive cli …
The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome/DFNB4 (PDS, OMIM 274600 …
Syndromic Hearing Loss in Children.
Lewis M, Robson CD, D'Arco F. Lewis M, et al. Neuroimaging Clin N Am. 2023 Nov;33(4):563-580. doi: 10.1016/j.nic.2023.05.007. Epub 2023 Jul 4. Neuroimaging Clin N Am. 2023. PMID: 37741658 Review.
Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.
Honda K, Griffith AJ. Honda K, et al. Hum Genet. 2022 Apr;141(3-4):455-464. doi: 10.1007/s00439-021-02311-1. Epub 2021 Aug 3. Hum Genet. 2022. PMID: 34345941 Review.
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a transmembrane exchanger of anions and bases. ...A thyroid iodine organification defect can lead to multinodular g …
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. …
Genetics and phenomics of Pendred syndrome.
Bizhanova A, Kopp P. Bizhanova A, et al. Mol Cell Endocrinol. 2010 Jun 30;322(1-2):83-90. doi: 10.1016/j.mce.2010.03.006. Epub 2010 Mar 15. Mol Cell Endocrinol. 2010. PMID: 20298745 Review.
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, goiter and a partial defect in iodide organification. Goiter development and hypothyroidism vary and appear to depend on nutritional iodide intake. Pendred syndrom
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, goiter and a partial defect in io
Hereditary and familial thyroid tumours.
Guilmette J, Nosé V. Guilmette J, et al. Histopathology. 2018 Jan;72(1):70-81. doi: 10.1111/his.13373. Histopathology. 2018. PMID: 29239041 Review.
Among the first group are found syndromes characterised by a predominance of non-thyroidal tumours, including familial adenomatous polyposis, Cowden syndrome, Werner syndrome, Carney complex, and Pendred syndrome. The second group encompasses a spectrum of familial …
Among the first group are found syndromes characterised by a predominance of non-thyroidal tumours, including familial adenomatous polyposis …
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.
ABBREVIATIONS: AITD = autoimmune thyroid disease; BPPV = benign paroxysmal positional vertigo; EH = endolymphatic hydrops; HT = Hashimoto thyroiditis; L-T(4) = L-thyroxine; MD = Meniere disease; PS = Pendred syndrome; Tg = thyroglobulin; TPO = thyroid peroxidase; TS …
ABBREVIATIONS: AITD = autoimmune thyroid disease; BPPV = benign paroxysmal positional vertigo; EH = endolymphatic hydrops; HT = Hashimoto th …
Pendred syndrome and iodide transport in the thyroid.
Kopp P, Pesce L, Solis-S JC. Kopp P, et al. Trends Endocrinol Metab. 2008 Sep;19(7):260-8. doi: 10.1016/j.tem.2008.07.001. Epub 2008 Aug 7. Trends Endocrinol Metab. 2008. PMID: 18692402 Review.
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated with insufficient thyroid hormone synthesis. Goiter development and deve
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and
Imaging Findings in Syndromes with Temporal Bone Abnormalities.
Ginat DT. Ginat DT. Neuroimaging Clin N Am. 2019 Feb;29(1):117-128. doi: 10.1016/j.nic.2018.08.004. Epub 2018 Oct 29. Neuroimaging Clin N Am. 2019. PMID: 30466636 Review.
This article reviews the imaging features of selected congenital syndromes with temporal bone abnormalities, including Treacher Collins syndrome, oculo-auriculo-vertebral dysplasia spectrum, Klippel-Feil syndrome, branchio-oto-renal syndrome, Pierre Robin sequence, CHARGE syndrom …
This article reviews the imaging features of selected congenital syndromes with temporal bone abnormalities, including Treacher Collins synd …
55 results