Works matching Pendred syndrome

Results: 268

Goiter and hearing impairment: A case of a male patient with Pendred syndrome.

Published in:

2014

By:

ER-WEI HU;
LI-BIN LIU;
RUO-YU JIANG;
XIANG-HUI HE

Publication type:

Case Study

Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant.

Published in:

Annals of Otology, Rhinology & Laryngology, 2024, v. 133, n. 9, p. 828, doi. 10.1177/00034894241261491

By:

Chen, Yung-Hsuan;
Lin, Wei-Che;
Hwang, Chung-Feng;
Tsai, Meng-Han;
Yang, Chao-Hui

Publication type:

Article

Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders.

Published in:

Russian Journal of Genetics, 2017, v. 53, n. 1, p. 128, doi. 10.1134/S1022795416120085

By:

Mironovich, O.;
Bliznetz, E.;
Markova, T.;
Geptner, E.;
Lalayants, M.;
Zelikovich, E.;
Tavartkiladze, G.;
Polyakov, A.

Publication type:

Article

COCHLEAR IMPLANTATION IN CHILDREN WITH ENLARGED VESTIBULAR AQUEDUCT (EVA): RELATIONSHIP TO PENDRED SYNDROME DIAGNOSIS, SURGICAL OUTCOMES, AND RADIOLOGICAL FINDINGS.

Published in:

Journal of Hearing Science, 2023, v. 13, n. 2, p. 29, doi. 10.17430/jhs/166669

By:

Remjasz-Jurek, Agnieszka;
Clarós, Pedro;
Clarós-Pujol, Astrid;
Clarós, Andres

Publication type:

Article

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Published in:

2017

By:

Yock-Ping Chow;
Abdul Murad, Nor Azian;
Rani, Zamzureena Mohd;
Jia-Shiun Khoo;
Pei-Sin Chong;
Loo-Ling Wu;
Jamal, Rahman;
Chow, Yock-Ping;
Mohd Rani, Zamzureena;
Khoo, Jia-Shiun;
Chong, Pei-Sin;
Wu, Loo-Ling

Publication type:

journal article

Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct.

Published in:

Acta Oto-Laryngologica (Supplement), 2020, v. 140, n. 1, p. 46, doi. 10.1080/00016489.2019.1689293

By:

Mey, Kristianna;
Percy-Smith, Lone;
Hallstrøm, Maria;
Sandvej, Matilde;
Cayé-Thomasen, Per

Publication type:

Article

Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct -- clinical challenges, surgical results, and complications.

Published in:

Acta Oto-Laryngologica (Supplement), 2016, v. 136, n. 10, p. 1064, doi. 10.1080/00016489.2016.1185538

By:

Mey, Kristianna;
Bille, Michael;
Cayé-Thomasen, Per

Publication type:

Article

p.Y556C is a Recurrent Mutation in Pendred Syndrome causing Gene SLC26A4 in Punjabi Population.

Published in:

Pakistan Journal of Zoology, 2018, v. 50, n. 3, p. 1113, doi. 10.17582/journal.pjz/2018.50.3.1113.1118

By:

Zahra, Sana

Publication type:

Article

Pendred Syndrome in a Newborn with Neck Swelling: A Case Report.

Published in:

2016

By:

Ajij, Mohemmed;
Shambhavi;
Patra, Bijoy;
Singh, Ankur;
Kapoor, Seema

Publication type:

journal article

Patients with Pendred syndrome: is cochlear implantation beneficial?

Published in:

Clinical Otolaryngology, 2016, v. 41, n. 4, p. 386, doi. 10.1111/coa.12532

By:

Nierop, J.W.I.;
Huinck, W.J.;
Pennings, R.J.E.;
Admiraal, R.J.C.;
Mylanus, E.A.M.;
Kunst, H.P.M.

Publication type:

Article

Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome.

Published in:

Balkan Medical Journal, 2021, v. 38, n. 4, p. 244, doi. 10.5152/balkanmedj.2021.20182

By:

Skrivan, Jiri;
Jurovcik, Michal;
Aksenovova, Zdenka;
Astl, Jaromír;
Pourova, Radka Kremlikova;
Dytrych, Petra;
Sieger, Tomas

Publication type:

Article

A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family.

Published in:

International Journal of Audiology, 2019, v. 58, n. 10, p. 628, doi. 10.1080/14992027.2019.1619945

By:

Pourahmadiyan, Azam;
Alipour, Paria;
Fattahi, Najmeh;
Kasiri, Mahbubeh;
Rezaeian, Fateme;
Taghipour-Sheshdeh, Afsaneh;
Mohammadi-Asl, Javad;
Tabatabaiefar, Mohammad Amin;
Hashemzadeh Chaleshtori, Morteza

Publication type:

Article

Bipolar disorder in Pendred syndrome: A case report of two siblings.

Published in:

2014

By:

Chauhan, Shravani;
Tripathi, Praveen;
Goyal, Priyanka;
Kumar, Deepak

Publication type:

Letter to the Editor

Congenital Goitrous Hypothyroidism, Deafness and Iodide Organification Defect in Four Siblings: Pendred or Pseudo-Pendred Syndrome?

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2010, v. 2, n. 2, p. 81, doi. 10.4274/jcrpe.v2i2.81

By:

Kara, Cengiz;
Kıliç, Mehtap;
Uçaktürk, Ahmet;
Aydın, Murat

Publication type:

Article

Pendred Syndrome with Retrosternal Goitre- A Rare Case Report.

Published in:

2013

By:

Sreekar, H.;
Uppin, V.;
Patil, Santosh;
Mutkekar, Amol;
Tejus, C.

Publication type:

Report

Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome.

Published in:

Audiology & Neurotology, 2010, v. 15, n. 1, p. 57, doi. 10.1159/000231567

By:

Chen-Chi Wu;
Ying-Chang Lu;
Pei-Jer Chen;
Po-Lin Yeh;
Yi-Nin Su;
Wuh-Liang Hwu;
Chuan-Jen Hsu

Publication type:

Article

Solitary thyroid nodule as presenting symptom of Pendred syndrome caused by a novel splice-site mutation in intron 8 of the SLC26A4 gene.

Published in:

2003

By:

Massa, Guy;
Jaenen, Nele;
de Varebeke, Sebastien Jannsens;
Peeters, Nils;
Wuys, Wim;
de Varebeke, Sebastien Janssens;
Wuyts, Wim

Publication type:

journal article

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

Published in:

Genes, 2021, v. 12, n. 10, p. 1569, doi. 10.3390/genes12101569

By:

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

Publication type:

Article

Pendred’s Syndrome.

Published in:

European Neurology, 2007, v. 58, n. 3, p. 189, doi. 10.1159/000104724

By:

Pearce, J. M. S.

Publication type:

Article

Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.

Published in:

Neuroradiology, 2024, v. 66, n. 8, p. 1397, doi. 10.1007/s00234-024-03386-z

By:

D'Arco, Felice;
Kandemirli, Sedat G.;
Dahmoush, Hisham M.;
Alves, Cesar A. P. F.;
Severino, Mariasavina;
Dellepiane, Francesco;
Robson, Caroline D.;
Lequin, Maarten H.;
Rossi-Espagnet, Camilla;
O'Brien, William T.;
Nash, Robert;
Clement, Emma;
Juliano, Amy F.

Publication type:

Article

Cochlear implantation in Pendred syndrome.

Published in:

Cochlear Implants International: An Interdisciplinary Journal, 2011, v. 12, n. 3, p. 157, doi. 10.1179/146701011X12950038111819

By:

Kontorinis, Georgios;
Lenarz, Thomas;
Lesinski-Schiedat, Anke;
Neuburger, Juergen

Publication type:

Article

CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2013, v. 32, n. 7, p. 166, doi. 10.1159/000356636

By:

Roesch, Sebastian;
Moser, Gerhard;
Rasp, Gerd;
Tóth, Miklós

Publication type:

Article

CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2013, v. 32, p. 166, doi. 10.1159/000356636

By:

Roesch, Sebastian;
Moser, Gerhard;
Rasp, Gerd;
Tóth, Miklós

Publication type:

Article

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

Published in:

Journal of International Advanced Otology, 2020, v. 16, n. 3, p. 432, doi. 10.5152/iao.2020.9039

By:

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

Publication type:

Article

Pendredův syndrom v České republice.

Published in:

Otorhinolaryngology & Phoniatrics / Otorinolaryngologie a Foniatrie, 2011, v. 60, n. 2, p. 103

By:

Katra, R.;
Pourová, R.;
Dytrych, P.;
Jelínková, H.;
Kabelka, Z.;
Dvořáková, M.;
Astl, J.

Publication type:

Article

A case of Pendred's syndrome presenting with amenorrhea.

Published in:

1996

By:

Mushayandebvu, Taonei I.;
Santoro, Nanette F.;
Colón, José M.;
Mushayandebvu, T I;
Santoro, N F;
Colón, J M

Publication type:

journal article

Mondini Cochlea in Pendred's Syndrome A Histological Study.

Published in:

Acta Oto-Laryngologica, 1986, v. 102, n. 3/4, p. 239, doi. 10.3109/00016488609108673

By:

Johnsen, Torsten;
Jørgensen, Martin Balslev;
Johnsen, Steen

Publication type:

Article

Screening ofSLC26A4(PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

Published in:

Clinical Genetics, 2004, v. 66, n. 4, p. 333, doi. 10.1111/j.1399-0004.2004.00296.x

By:

Blons, H.;
Feldmann, D.;
Duval, V.;
Messaz, O.;
Denoyell, F.;
Loundon, N.;
Sergout-Allaoui, A.;
Houang, M.;
Duriez, F.;
Lacombe, D.;
Delobel, B.;
Leman, J.;
Catros, H.;
Journel, H.;
Drouin-Garraud, V.;
Obstoy, M.-F.;
Toutain, A.;
Oden, S.;
Toublanc, J. E.;
Couderc, R.

Publication type:

Article

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts.

Published in:

BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-85

By:

Landa, Priya;
Differ, Ann-Marie;
Rajput, Kaukab;
Jenkins, Lucy;
Bitner-Glindzicz, Maria

Publication type:

Article

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 888, doi. 10.1038/ejhg.2008.30

By:

Pera, Alejandra;
Villamar, Manuela;
Viñuela, Antonio;
Gandía, Marta;
Medà, Carme;
Moreno, Felipe;
Hernández-Chico, Concepción

Publication type:

Article

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 916, doi. 10.1038/sj.ejhg.5201073

By:

Tsukamoto, Koji;
Suzuki, Hiroaki;
Harada, Daisuke;
Namba, Atsushi;
Abe, Satoko;
Usami, Shin-ichi

Publication type:

Article

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 5, p. 266, doi. 10.1038/jhg.2009.21

By:

Anwar, Saima;
Riazuddin, Saima;
Ahmed, Zubair M.;
Tasneem, Saba;
Ateeq-ul-Jaleel;
Khan, Shahid Y.;
Griffith, Andrew J.;
Friedman, Thomas B.;
Riazuddin, Sheikh

Publication type:

Article

Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.

Published in:

Clinical Genetics, 2014, v. 86, n. 3, p. 270, doi. 10.1111/cge.12273

By:

Lee, H.J.;
Jung, J.;
Shin, J.W.;
Song, M.H.;
Kim, S.H.;
Lee, J.‐H.;
Lee, K.‐A.;
Shin, S.;
Kim, U.‐K.;
Bok, J.;
Lee, K.‐Y.;
Choi, J.Y.;
Park, H.J.

Publication type:

Article

Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct.

Published in:

Laryngoscope, 2025, v. 135, n. 2, p. 848, doi. 10.1002/lary.31752

By:

Zhuang, Boxiang;
Du, Haiqiao;
Chen, Chenyu;
Li, Menghua;
Kang, Shuoshuo;
Wang, Qian;
Wang, Shuwei;
Guo, Weiwei;
Lin, Chang;
Li, Jianan;
Yang, Shiming;
Wang, Rong

Publication type:

Article

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

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01023-z

By:

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

Publication type:

Article

Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.

Published in:

2019

By:

Mikkelsen, Kasper Sandager;
Tranebjærg, Lisbeth;
Mey, Kristianna

Publication type:

journal article

Unresolved questions regarding human hereditary deafness.

Published in:

Oral Diseases, 2017, v. 23, n. 5, p. 551, doi. 10.1111/odi.12516

By:

Rehman, AU;
Friedman, TB;
Griffith, AJ

Publication type:

Article

Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome.

Published in:

2003

By:

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

Publication type:

journal article

Thyroidectomy in a Patient with Multinodular Dyshormonogenetic Goitre - A Case of Pendred Syndrome Confirmed by Mutations in the PDS/SLC26A4 Gene.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 12, p. 1179, doi. 10.1515/JPEM.2008.21.12.1179

By:

Banghova, Karolina;
Cinek, Ondrej;
Al Taji, Eva;
Zapletalova, Jirina;
Vidura, Radan;
Lebl, Jan

Publication type:

Article

Pendred syndrome.

Published in:

Expert Review of Endocrinology & Metabolism, 2008, v. 3, n. 5, p. 635, doi. 10.1586/17446651.3.5.635

By:

Abeal, Joaquin Lado

Publication type:

Article

Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes.

Published in:

European Archives of Oto-Rhino-Laryngology, 2005, v. 262, n. 9, p. 737, doi. 10.1007/s00405-004-0884-z

By:

Sugiura, Makoto;
Sato, Eisuke;
Nakashima, Tsutomu;
Sugiura, Junko;
Furuhashi, Atsushi;
Yoshino, Takahiko;
Nakayama, Atsuo;
Mori, Naoyoshi;
Murakami, Hideki;
Naganawa, Shinji

Publication type:

Article

Hypokalemia and metabolic alkalosis in an Egyptian boy with Pendred syndrome.

Published in:

Thyroid Research & Practice, 2020, v. 17, n. 1, p. 22, doi. 10.4103/trp.trp_13_20

By:

Metwalley, Kotb;
Farghaly, Hekma;
Metwalley, Mohamed

Publication type:

Article

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.

Published in:

Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00600

By:

Cirello, Valentina;
Giorgini, Valentina;
Castronovo, Chiara;
Marelli, Susan;
Mainini, Ester;
Sironi, Alessandra;
Recalcati, Maria Paola;
Pessina, Marco;
Giardino, Daniela;
Larizza, Lidia;
Persani, Luca;
Finelli, Palma;
Russo, Silvia;
Fugazzola, Laura

Publication type:

Article

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.

Published in:

2019

By:

Mey, Kristianna;
Muhamad, Ali A.;
Tranebjærg, Lisbeth;
Rendtorff, Nanna D.;
Rasmussen, Stig H.;
Bille, Michael;
Cayé‐Thomasen, Per;
Tranebjaerg, Lisbeth;
Cayé-Thomasen, Per

Publication type:

journal article

Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases.

Published in:

European Review for Medical & Pharmacological Sciences, 2023, v. 27, n. 12, p. 5390

By:

LI, Y.-L.;
GONG, F.-Y.;
DANG, Z.-Y.;
XIONG, W.;
ZHANG, M.-D.;
WANG, Y.-X.;
WANG, C.-C.;
JIN, Z.-G.

Publication type:

Article

Functional Characterization of Wild-Type and a Mutated Form of SLC26A4 Identified in a Patient with Pendred Syndrome.

Published in:

Cellular Physiology & Biochemistry (Karger AG), 2006, v. 17, n. 5/6, p. 245, doi. 10.1159/000094137

By:

Dossena, Silvia;
Vezzoli, Valeria;
Cerutti, Nadia;
Bazzini, Claudia;
Tosco, Marisa;
Sironi, Chiara;
Rodighiero, Simona;
Meyer, Giuliano;
Fascio, Umberto;
Fürst, Johannes;
Ritter, Markus;
Fugazzola, Laura;
Persani, Luca;
Zorowka, Patrick;
Storelli, Carlo;
Beck-Peccoz, Paolo;
Bottà, Guido;
Paulmichl, Markus

Publication type:

Article

Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.

Published in:

2017

By:

Rose, Jane;
Muskett, Julie A.;
King, Kelly A.;
Zalewski, Christopher K.;
Chattaraj, Parna;
Butman, John A.;
Kenna, Margaret A.;
Chien, Wade W.;
Brewer, Carmen C.;
Griffith, Andrew J.

Publication type:

journal article

Molecular Analysis of the Pendred’s Syndrome Gene and Magnetic Resonance Imaging Studies of the Inner Ear Are Essential for the Diagnosis of True Pendred’s Syndrome.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 7, p. 2469, doi. 10.1210/jcem.85.7.6694

By:

FUGAZZOLA, LAURA;
MANNAVOLA, DEBORAH;
CERUTTI, NADIA;
MAGHNIE, MOHAMED;
PAGELLA, FABIO;
BIANCHI, PAOLO;
WEBER, GIOVANNA;
LUCA, LUCA;
BECK-PECCOZ, PAOLO

Publication type:

Article

Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.

Published in:

2008

By:

Banghova, Karolina;
Al Taji, Eva;
Cinek, Ondrej;
Novotna, Dana;
Pourova, Radka;
Zapletalova, Jirina;
Hnikova, Olga;
Lebl, Jan

Publication type:

journal article

The Pendred syndrome gene encodes a chloride-iodide transport protein.

Published in:

Nature Genetics, 1999, v. 21, n. 4, p. 440, doi. 10.1038/7783

By:

Scott, Daryl A.;
Wang, Rong;
Kreman, Trisha M;
Sheffield, Val C.;
Karniski, Lawrence P

Publication type:

Article