Works matching DE "PENDRED syndrome"

Results: 30

Identification of Novel Functional Null Allele of SLC26A4 Associated with Enlarged Vestibular Aqueduct and Its Possible Implication.

Published in:

Audiology & Neurotology, 2014, v. 19, n. 5, p. 319, doi. 10.1159/000366190

By:

Jang, Jeong Hun;
Jung, Jinsei;
Kim, Ah Reum;
Cho, Young Mi;
Kim, Min Young;
Lee, Sang Yeon;
Choi, Jae Young;
Lee, Jun Ho;
Choi, Byung Yoon

Publication type:

Article

Clinical significance of BRAF V600E mutation in 154 patients with thyroid nodules.

Published in:

Oncology Letters, 2015, v. 9, n. 6, p. 2633, doi. 10.3892/ol.2015.3119

By:

LINGYING YU;
LIZHEN MA;
QIAOFENG TU;
YI ZHANG;
YUEMING CHEN;
DAOJUN YU;
SHAOYU YANG

Publication type:

Article

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

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

Relationship between metabolic syndrome and nodular thyroid diseases.

Published in:

2018

By:

Kir, Seher;
Aydin, Yusuf;
Coskun, Hulya

Publication type:

journal 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

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

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

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

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

Evaluation of hearing screening in newborns in Poland.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2022, v. 97, n. 3, p. 249, doi. 10.5114/polp.2022.119899

By:

Bubula, Lidia;
Dardzińska, Nicol;
Dorobisz, Karolina

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

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

Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.

Published in:

Molecular Medicine Reports, 2016, v. 14, n. 1, p. 319, doi. 10.3892/mmr.2016.5280

By:

YUNLONG LI;
BAOSHENG ZHU

Publication type:

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

Clinical Insight into Congenital Hypothyroidism Among Children.

Published in:

Children, 2025, v. 12, n. 1, p. 55, doi. 10.3390/children12010055

By:

Korkmaz, Hüseyin Anıl

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

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0790-2

By:

Zhang, Jing;
Guan, Jing;
Wang, Hongyang;
Yin, Linwei;
Wang, Dayong;
Zhao, Lidong;
Zhou, Huifang;
Wang, Qiuju

Publication type:

Article

Mutation analysis of <italic>SLC26A4</italic> (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

Published in:

2018

By:

Nonose, Renata Watanabe;
Lezirovitz, Karina;
de Mello Auricchio, Maria Teresa Balester;
Batissoco, Ana Carla;
Yamamoto, Guilherme Lopes;
Mingroni-Netto, Regina Célia

Publication type:

Abstract

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

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

Correlation of vestibular aqueduct size with air-bone gap in enlarged vestibular aqueduct syndrome.

Published in:

2016

By:

Seo, Young Joon;
Kim, Jinna;
Choi, Jae Young

Publication type:

journal article

SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.

Published in:

Laryngoscope, 2010, v. 120, n. 2, p. 384, doi. 10.1002/lary.20722

By:

King, Kelly A.;
Choi, Byung Yoon;
Zalewski, Christopher;
Madeo, Anne C.;
Manichaikul, Ani;
Pryor, Shannon P.;
Ferruggiaro, Anne;
Eisenman, David;
Kim, H. Jeffrey;
Niparko, John;
Thomsen, James;
Butman, John A.;
Griffith, Andrew J.;
Brewer, Carmen C.

Publication type:

Article

Effect of SLC26 anion transporter disease-causing mutations on the stability of the homologous STAS domain of E. coli DauA (YchM).

Published in:

Biochemical Journal, 2016, v. 473, n. 5, p. 615, doi. 10.1042/BJ20151025

By:

Xiaoyun Bai;
Moraes, Trevor F.;
Reithmeier, Reinhart A. F.

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

Knowledge about goitre among female school-going children in Wellega Province, Ethiopia.

Published in:

Tanzania Journal of Health Research, 2018, v. 20, n. 4, p. 1, doi. 10.4314/thrb.v20i4.5

By:

ABESSA, ZEKARIAS F.;
MASHALLA, YOHANA J.

Publication type:

Article

Heterogenous Morphologic forms of Goiter in Autoimmune thyroid disease: An Insight based on a Prospective Surgical series of 88 cases.

Published in:

World Journal of Endocrine Surgery, 2014, v. 6, n. 2, p. 71, doi. 10.2005/jp-journals-10002-1140

By:

Bhargav, P. R. K.

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