Results 21 to 30 of about 2,252,434 (232)

SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report. [PDF]

Medicine (Baltimore), 2022
Rationale: Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, inner ear malformations, goiter, and abnormal organification of iodide.
Lu YT, Lu YT, Wang L, Hou LL, Zheng PP, Xu Q, Deng DT.   +6 more
europepmc   +2 more sources

Histopathological Features of Pendred Syndrome Thyroids Align with Differences in the Expression of Thyroid-Specific Markers, Apical Iodide Transporters, and Ciliogenesis Process. [PDF]

Endocr Pathol, 2022
Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the gene that encodes pendrin. Pendred thyroid tissue is supposedly altered by the absence of functional pendrin, but it is still unknown whether other iodide exchangers ...
Vázquez-Román V, Cameselle-Teijeiro JM, Fernández-Santos JM, Ríos-Moreno MJ, Loidi L, Ortiz T, Martín-Lacave I.   +6 more
europepmc   +2 more sources

Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis [PDF]

Journal of International Advanced Otology, 2020
Kirsty Biggs, Amy Lovett , Chris Metcalfe, Jameel Muzaffar , Peter Monksfield , Manohar Bance   +5 more
doaj   +3 more sources

Pendred syndrome: Advances in diagnostics and unresolved therapeutic challenges

Problemy Pielęgniarstwa
Pendred syndrome remains a condition characterised by numerous complexities and unresolved aspects despite significant advancements in understanding its aetiology and clinical manifestations.
Olga Domańska, Kinga Brzdęk, Michał Brzdęk, Szymon Wiśniewski, Wiktor Baran   +4 more
doaj   +2 more sources

PENDRED syndrome with ectopic thyroid: About a delayed diagnosis

World Journal of Advanced Research and Reviews, 2023
We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of total thyroidectomy 13 years ago .And presented when aged 30 with a cervical abscess of ectopic thyroid.
Chtioui Sara, Aliazov Si, S. Rafi, G. Mghari, N. Ansari   +4 more
semanticscholar   +2 more sources

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4. [PDF]

Medicine (Baltimore), 2020
Supplemental Digital Content is available in the ...
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.   +14 more
europepmc   +2 more sources

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. [PDF]

BMC Med Genet, 2013
Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia.
Landa P, Differ AM, Rajput K, Jenkins L, Bitner-Glindzicz M.   +4 more
europepmc   +4 more sources

Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss [PDF]

Iranian Journal of Public Health, 2011
Background: Hearing loss (HL) is the most frequent sensory birth defect in humans. Autosomal recessive non-syn­dromic HL (ARNSHL) is the most common type of hereditary HL.
MA Tabatabaiefar , F Alasti, M Montazer Zohour, L Shariati, E Farrokhi , DD Farhud , GV Camp, MR Noori-Daloii, M Hashemzadeh Chaleshtori   +8 more
doaj   +7 more sources

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis [PDF]

Orphanet Journal of Rare Diseases, 2019
Background Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts   +8 more
doaj   +5 more sources

Surgical Treatment Of Pendred Syndrome With Thyroid Nodule: A Case Report

Nusantara Medical Science Journal
Introduction and importance: Pendred syndrome (PS) is a genetic disease inherited in an autosomal recessive pattern. In PS patients, the ability of thyroid gland to accumulate iodide in the follicle lumen is disrupted, causing insufficient thyroid ...
Djonny Ferianto, S. A. Syamsu, Vannes Caesar Palebangan Sapan, Indra, Elridho Sampepajung, John Pieter Jr.   +5 more
semanticscholar   +3 more sources