Works matching Pendred syndrome
Results: 259
Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders.
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- Russian Journal of Genetics, 2017, v. 53, n. 1, p. 128, doi. 10.1134/S1022795416120085
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- Article
Goiter and hearing impairment: A case of a male patient with Pendred syndrome.
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- 2014
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- Publication type:
- Case Study
COCHLEAR IMPLANTATION IN CHILDREN WITH ENLARGED VESTIBULAR AQUEDUCT (EVA): RELATIONSHIP TO PENDRED SYNDROME DIAGNOSIS, SURGICAL OUTCOMES, AND RADIOLOGICAL FINDINGS.
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- Journal of Hearing Science, 2023, v. 13, n. 2, p. 29, doi. 10.17430/jhs/166669
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- Article
Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant.
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- Annals of Otology, Rhinology & Laryngology, 2024, v. 133, n. 9, p. 828, doi. 10.1177/00034894241261491
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- Article
p.Y556C is a Recurrent Mutation in Pendred Syndrome causing Gene SLC26A4 in Punjabi Population.
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- Pakistan Journal of Zoology, 2018, v. 50, n. 3, p. 1113, doi. 10.17582/journal.pjz/2018.50.3.1113.1118
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- Article
Pendred Syndrome in a Newborn with Neck Swelling: A Case Report.
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- 2016
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- Publication type:
- journal article
Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct.
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- Acta Oto-Laryngologica (Supplement), 2020, v. 140, n. 1, p. 46, doi. 10.1080/00016489.2019.1689293
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- Article
Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct -- clinical challenges, surgical results, and complications.
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- Acta Oto-Laryngologica (Supplement), 2016, v. 136, n. 10, p. 1064, doi. 10.1080/00016489.2016.1185538
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- Article
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.
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- 2017
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- Publication type:
- journal article
Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome.
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- Balkan Medical Journal, 2021, v. 38, n. 4, p. 244, doi. 10.5152/balkanmedj.2021.20182
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- Article
Patients with Pendred syndrome: is cochlear implantation beneficial?
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- Clinical Otolaryngology, 2016, v. 41, n. 4, p. 386, doi. 10.1111/coa.12532
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- Publication type:
- Article
A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family.
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- International Journal of Audiology, 2019, v. 58, n. 10, p. 628, doi. 10.1080/14992027.2019.1619945
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- Article
Bipolar disorder in Pendred syndrome: A case report of two siblings.
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- 2014
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- Publication type:
- Letter to the Editor
Congenital Goitrous Hypothyroidism, Deafness and Iodide Organification Defect in Four Siblings: Pendred or Pseudo-Pendred Syndrome?
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- Journal of Clinical Research in Pediatric Endocrinology, 2010, v. 2, n. 2, p. 81, doi. 10.4274/jcrpe.v2i2.81
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- Publication type:
- Article
A case of Pendred's syndrome presenting with amenorrhea.
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- 1996
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- Publication type:
- journal article
Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis.
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- Journal of International Advanced Otology, 2020, v. 16, n. 3, p. 432, doi. 10.5152/iao.2020.9039
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- Article
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.
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- Audiology & Neurotology, 2010, v. 15, n. 1, p. 57, doi. 10.1159/000231567
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- Article
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
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- Genes, 2021, v. 12, n. 10, p. 1569, doi. 10.3390/genes12101569
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- Article
Pendred’s Syndrome.
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- European Neurology, 2007, v. 58, n. 3, p. 189, doi. 10.1159/000104724
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- Article
CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome.
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- Cellular Physiology & Biochemistry (Karger AG), 2013, v. 32, n. 7, p. 166, doi. 10.1159/000356636
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- Article
CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome.
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- Cellular Physiology & Biochemistry (Karger AG), 2013, v. 32, p. 166, doi. 10.1159/000356636
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- Publication type:
- Article
Screening ofSLC26A4(PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
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- Clinical Genetics, 2004, v. 66, n. 4, p. 333, doi. 10.1111/j.1399-0004.2004.00296.x
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- Article
Cochlear implantation in Pendred syndrome.
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- Cochlear Implants International: An Interdisciplinary Journal, 2011, v. 12, n. 3, p. 157, doi. 10.1179/146701011X12950038111819
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- 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.
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- 2003
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- Publication type:
- journal article
Pendredův syndrom v České republice.
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- Otorhinolaryngology & Phoniatrics / Otorinolaryngologie a Foniatrie, 2011, v. 60, n. 2, p. 103
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- Publication type:
- Article
Mondini Cochlea in Pendred's Syndrome A Histological Study.
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- Acta Oto-Laryngologica, 1986, v. 102, n. 3/4, p. 239, doi. 10.3109/00016488609108673
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- Publication type:
- Article
Pendred Syndrome with Retrosternal Goitre- A Rare Case Report.
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- 2013
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- Publication type:
- Report
Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.
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- Neuroradiology, 2024, v. 66, n. 8, p. 1397, doi. 10.1007/s00234-024-03386-z
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- Article
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts.
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- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-85
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- Article
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.
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- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00600
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- Article
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
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- Journal of Human Genetics, 2009, v. 54, n. 5, p. 266, doi. 10.1038/jhg.2009.21
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- Article
Thyroidectomy in a Patient with Multinodular Dyshormonogenetic Goitre - A Case of Pendred Syndrome Confirmed by Mutations in the PDS/SLC26A4 Gene.
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- Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 12, p. 1179, doi. 10.1515/JPEM.2008.21.12.1179
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- Publication type:
- Article
Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes.
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- European Archives of Oto-Rhino-Laryngology, 2005, v. 262, n. 9, p. 737, doi. 10.1007/s00405-004-0884-z
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- Article
Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases.
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- European Review for Medical & Pharmacological Sciences, 2023, v. 27, n. 12, p. 5390
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- Article
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.
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- Clinical Genetics, 2014, v. 86, n. 3, p. 270, doi. 10.1111/cge.12273
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- 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.
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- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 888, doi. 10.1038/ejhg.2008.30
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- Publication type:
- Article
Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.
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- 2019
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- Publication type:
- journal 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
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- Publication type:
- journal 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.
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- European Journal of Human Genetics, 2003, v. 11, n. 12, p. 916, doi. 10.1038/sj.ejhg.5201073
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- Publication type:
- Article
Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01023-z
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- Publication type:
- Article
Hypokalemia and metabolic alkalosis in an Egyptian boy with Pendred syndrome.
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- Thyroid Research & Practice, 2020, v. 17, n. 1, p. 22, doi. 10.4103/trp.trp_13_20
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- Publication type:
- Article
Unresolved questions regarding human hereditary deafness.
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- Oral Diseases, 2017, v. 23, n. 5, p. 551, doi. 10.1111/odi.12516
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- Publication type:
- Article
Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.
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- 2019
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- Publication type:
- journal article
Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.
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- 2017
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- Publication type:
- journal 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
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- Publication type:
- 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.
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- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 7, p. 2469, doi. 10.1210/jcem.85.7.6694
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- Publication type:
- Article
Genetic Causes of Goiter and Deafness: Pendred Syndrome in a Girl and Cooccurrence of Pendred Syndrome and Resistance to Thyroid Hormone in Her Sister.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 6, p. 2106, doi. 10.1210/jc.2008-2361
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- Publication type:
- Article
Mutations in the PDS Gene in German Families with Pendred’s Syndrome: V138F Is a Founder Mutation.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 6, p. 2916, doi. 10.1210/jc.2002-021334
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- Publication type:
- Article
Mutations of the PDS Gene, Encoding Pendrin, Are Associated with Protein Mislocalization and Loss of Iodide Efflux: Implications for Thyroid Dysfunction in Pendred Syndrome.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 4, p. 1778, doi. 10.1210/jcem.87.4.8435
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- Article
Expression of PDS/Pds, the Pendred Syndrome Gene, in Endometrium.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 2, p. 938, doi. 10.1210/jcem.87.2.8390
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- Article