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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 …
Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.
Wu J, Cao Z, Su Y, Wang Y, Cai R, Chen J, Gao B, Han M, Li X, Zhang D, Gao X, Huang S, Huang Q, Yuan Y, Ma X, Dai P. Wu J, et al. J Hum Genet. 2022 Nov;67(11):643-649. doi: 10.1038/s10038-022-01066-5. Epub 2022 Aug 19. J Hum Genet. 2022. PMID: 35982127 Free PMC article.
Of the implicated 35 hearing loss genes, three common genes, including SLC26A4(278/588), GJB2(207/588), MT-RNR1(19/588), accounted for 85.54% (503/588) of the diagnosed cases, while 32 uncommon hearing loss genes, including MYO15A, MITF, OTOF, POU3F4, PTPN11, etc. accounted for t …
Of the implicated 35 hearing loss genes, three common genes, including SLC26A4(278/588), GJB2(207/588), MT-RNR1(19/588), accounted for 85.54 …
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.
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 …
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Tesolin P, Fiorino S, Lenarduzzi S, Rubinato E, Cattaruzzi E, Ammar L, Castro V, Orzan E, Granata C, Dell'Orco D, Morgan A, Girotto G. Tesolin P, et al. Genes (Basel). 2021 Oct 1;12(10):1569. doi: 10.3390/genes12101569. Genes (Basel). 2021. PMID: 34680964 Free PMC article.
Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. ...
Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear ma …
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 …
Cochlear implantation in patients with Pendred syndrome.
Patterson TE, Gonzalez VB, Carron JD. Patterson TE, et al. Am J Otolaryngol. 2021 Nov-Dec;42(6):103087. doi: 10.1016/j.amjoto.2021.103087. Epub 2021 May 19. Am J Otolaryngol. 2021. PMID: 34029917
OBJECTIVE: To examine the outcomes of cochlear implantation in children with Pendred Syndrome. MATERIAL AND METHODS: A retrospective case series of nine pediatric patients with Pendred syndrome undergoing cochlear implantation at a tertiary academic me …
OBJECTIVE: To examine the outcomes of cochlear implantation in children with Pendred Syndrome. MATERIAL AND METHODS: A retrosp …
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 …
Vestibular Function in Pendred Syndrome: Intact High Frequency VOR and Saccular Hypersensitivity.
West NC, Ryberg AC, Cayé-Thomasen P. West NC, et al. Otol Neurotol. 2021 Oct 1;42(9):e1327-e1332. doi: 10.1097/MAO.0000000000003270. Otol Neurotol. 2021. PMID: 34224544
OBJECTIVE: Although Pendred syndrome involves anatomical abnormalities in the vestibular system and patient-perceived dizziness, the literature on vestibular function is scarce. ...CONCLUSION: Despite dysmorphic vestibular anatomy and severe loss of hearing, the VHI …
OBJECTIVE: Although Pendred syndrome involves anatomical abnormalities in the vestibular system and patient-perceived dizzines …
Pendred syndrome in Tunisia.
Charfeddine I, Mnejja M, Hammami B, Chakroun A, Masmoudi S, Ayadi H, Ghorbel A. Charfeddine I, et al. Eur Ann Otorhinolaryngol Head Neck Dis. 2010 Mar;127(1):7-10. doi: 10.1016/j.anorl.2010.02.002. Epub 2010 Mar 24. Eur Ann Otorhinolaryngol Head Neck Dis. 2010. PMID: 20822748 Free article.
OBJECTIVES: We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome. PATIENTS AND METHODS: Three families from the south of Tunisia were identified as affected by Pendred syndrome. ...Hormone analys …
OBJECTIVES: We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome. PAT …
120 results