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Select item 18670941.

Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4)

Tao Yang, Hilmar Vidarsson, Sandra Rodrigo-Blomqvist, Sally S. Rosengren, Sven Enerbäck, Richard J. H. Smith

Am J Hum Genet. 2007 Jun; 80(6): 1055–1063. Published online 2007 Apr 23. doi: 10.1086/518314

Correction in:: Am J Hum Genet. 2007 Sep; 81(3): 634.

PMCID:: PMC1867094

Abstract Article PDF–508K

Select item 36642182.

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

Akira Ganaha, Tadashi Kaname, Kumiko Yanagi, Kenji Naritomi, Tetsuya Tono, Shin-ichi Usami, Mikio Suzuki

BMC Med Genet. 2013; 14: 56. Published online 2013 May 24. doi: 10.1186/1471-2350-14-56

PMCID:: PMC3664218

Abstract Article PDF–1.1M

Select item 70677723.

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Mengnan Li, Shin-ya Nishio, Chie Naruse, Meghan Riddell, Sabrina Sapski, Tatsuya Katsuno, Takao Hikita, Fatemeh Mizapourshafiyi, Fiona M. Smith, Leanne T. Cooper, Min Goo Lee, Masahide Asano, Thomas Boettger, Marcus Krueger, Astrid Wietelmann, Johannes Graumann, Bryan W. Day, Andrew W. Boyd, Stefan Offermanns, Shin-ichiro Kitajiri, Shin-ichi Usami, Masanori Nakayama

Nat Commun. 2020; 11: 1343. Published online 2020 Mar 12. doi: 10.1038/s41467-020-15198-9

PMCID:: PMC7067772

Abstract Article PDF–4.2M

Select item 71609684.

Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes

Eva Lindberg, Claes Moller, Juha Kere, Satu Wedenoja, Agneta Anderzén-Carlsson

BMC Med Genet. 2020; 21: 79. Published online 2020 Apr 15. doi: 10.1186/s12881-020-01023-z

PMCID:: PMC7160968

Abstract Article PDF–425K

Select item 72203925.

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

Masato Fujioka, Takumi Akiyama, Makoto Hosoya, Kayoko Kikuchi, Yuto Fujiki, Yasuko Saito, Keisuke Yoshihama, Hiroyuki Ozawa, Keita Tsukada, Shin-ya Nishio, Shin-ichi Usami, Tatsuo Matsunaga, Tomonobu Hasegawa, Yasunori Sato, Kaoru Ogawa

Medicine (Baltimore) 2020 May; 99(19): e19763. Published online 2020 May 8. doi: 10.1097/MD.0000000000019763

PMCID:: PMC7220392

Abstract Article PDF–360K

Select item 75212316.

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome

Chuan Zhang, Shengju Hao, Qinghua Zhang, Furong Liu, Bingbo Zhou, Feng Xuan, Wang Xing, Xue Chen, Yan Wang, Panpan Ma, Zongfu Cao, Xu Ma

J Clin Lab Anal. 2020 Sep; 34(9): e23407. Published online 2020 Jul 14. doi: 10.1002/jcla.23407

PMCID:: PMC7521231

Abstract Article PDF–707K

Select item 75305977.

Pendred syndrome with hyperthyroidism

Yoshiro Kusano

J Rural Med. 2020 Oct; 15(4): 217–220. Published online 2020 Oct 1. doi: 10.2185/jrm.2020-011

PMCID:: PMC7530597

Abstract Article PDF–1.5M

Select item 34037138.

Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?

Anne C. Madeo, Ani Manichaikul, Shannon P. Pryor, Andrew J. Griffith

J Med Genet. Author manuscript; available in PMC 2012 Jul 24.

Published in final edited form as: J Med Genet. 2009 Jun; 46(6): 405–406. Published online 2009 Mar 15. doi: 10.1136/jmg.2008.063610

PMCID:: PMC3403713

Abstract Article PDF–279K

Select item 17343839.

Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome

P Coucke, P Van Hauwe, L Everett, O Demirhan, Y Kabakkaya, N Dietrich, R Smith, E Coyle, W Reardon, R Trembath, P Willems, E Green, G Van Camp

J Med Genet. 1999 Jun; 36(6): 475–477.

PMCID:: PMC1734383

Summary PDF–113K

Select item 790145610.

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

Kirsty Biggs, Amy Lovett, Chris Metcalfe, Jameel Muzaffar, Peter Monksfield, Manohar Bance

J Int Adv Otol. 2020 Dec; 16(3): 432–442. Published online 2020 Dec 1. doi: 10.5152/iao.2020.9039

PMCID:: PMC7901456

Abstract Article PDF–1.7M

Select item 320273411.

Localization and Functional Studies of Pendrin in the Mouse Inner Ear Provide Insight About the Etiology of Deafness in Pendred Syndrome

Ines E. Royaux, Inna A. Belyantseva, Tao Wu, Bechara Kachar, Lorraine A. Everett, Daniel C. Marcus, Eric D. Green

J Assoc Res Otolaryngol. 2003 Sep; 4(3): 394–404. Published online 2003 Apr 14. doi: 10.1007/s10162-002-3052-4

PMCID:: PMC3202734

Abstract Article PDF–480K

Select item 176296312.

Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome

W. Reardon, R. Coffey, T. Chowdhury, A. Grossman, H. Jan, K. Britton, P. Kendall-Taylor, R. Trembath

J Med Genet. 1999 Aug; 36(8): 595–598.

PMCID:: PMC1762963

Summary PDF–74K

Select item 503059913.

Delayed diagnosis of Pendred syndrome

Natalie Smith, Jean-Marie U-King-Im, Janaka Karalliedde

BMJ Case Rep. 2016; 2016: bcr2016215271. Published online 2016 Sep 12. doi: 10.1136/bcr-2016-215271

PMCID:: PMC5030599

Abstract Article PDF–482K

Select item 219074814.

Pendred Syndrome in Two Galician Families: Insights into Clinical Phenotypes through Cellular, Genetic, and Molecular Studies

Fernando Palos, María E. R. García-Rendueles, David Araujo-Vilar, Maria Jesús Obregon, Rosa Maria Calvo, Jose Cameselle-Teijeiro, Susana B. Bravo, Oscar Perez-Guerra, Lourdes Loidi, Barbara Czarnocka, Paula Alvarez, Samuel Refetoff, Lourdes Dominguez-Gerpe, Clara V. Alvarez, Joaquin Lado-Abeal

J Clin Endocrinol Metab. 2008 Jan; 93(1): 267–277. Published online 2007 Oct 16. doi: 10.1210/jc.2007-0539

PMCID:: PMC2190748

Abstract Article

Select item 312379515.

Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting

Neng Chen, Lisbeth Tranebjærg, Nanna Dahl Rendtorff, Iris Schrijver

J Mol Diagn. 2011 Jul; 13(4): 416–426. doi: 10.1016/j.jmoldx.2011.03.003

PMCID:: PMC3123795

Abstract Article PDF–1.2M

Select item 311849216.

Life-threatening metabolic alkalosis in Pendred syndrome

Narayanan Kandasamy, Laura Fugazzola, Mark Evans, Krishna Chatterjee, Fiona Karet

Eur J Endocrinol. 2011 Jul; 165(1): 167–170. doi: 10.1530/EJE-11-0101

PMCID:: PMC3118492

Abstract Article PDF–112K

Select item 853589117.

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question

Paola Tesolin, Sofia Fiorino, Stefania Lenarduzzi, Elisa Rubinato, Elisabetta Cattaruzzi, Lydie Ammar, Veronica Castro, Eva Orzan, Claudio Granata, Daniele Dell’Orco, Anna Morgan, Giorgia Girotto

Genes (Basel) 2021 Oct; 12(10): 1569. Published online 2021 Oct 1. doi: 10.3390/genes12101569