Associated Papers
Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.
Sklenar M et al.
Molecular Medicine (cambridge, Mass.), 2025
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E et al.
Molecular Medicine (cambridge, Mass.), 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.
Aliazami F et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).
Danilchenko VY et al.
Genes, 2023
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
Chelleri C et al.
Human Mutation, 2023
Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies
Klarov LA et al.
International Journal of Molecular Sciences, 2022
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2022
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A et al.
Communications Biology, 2022
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Tissue sensitivity to thyroid hormones may change over time.
Radetti G et al.
European Thyroid Journal, 2022
Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran.
Koohiyan M et al.
Intractable & Rare Diseases Research, 2021
Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.
Bałdyga N et al.
Audiology & Neuro-otology, 2021
Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India.
Chandru J et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2020
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?
Medda E et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss.
Wu L et al.
Bioscience Reports, 2019
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort.
Carvalho SDCES et al.
Bmc Research Notes, 2018
Homology of pendrin, sodium-iodide symporter and apical iodide transporter.
Benvenga S et al.
Frontiers in Bioscience (landmark Edition), 2018
Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.
Likar T et al.
Plos One, 2018
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
Chattaraj P et al.
Journal of Medical Genetics, 2017
A frequent oligogenic involvement in congenital hypothyroidism.
de Filippis T et al.
Human Molecular Genetics, 2017
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Indispensable Role of Ion Channels and Transporters in the Auditory System.
Mittal R et al.
Journal of Cellular Physiology, 2017
[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].
Mironovich OL et al.
Genetika, 2017
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
Löf C et al.
Thyroid : Official Journal of the American Thyroid Association, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review.
Tsukada K et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
A systematic review of genetic studies of thyroid disorders in Taiwan.
Huang CJ et al.
Journal of the Chinese Medical Association : Jcma, 2015
The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.
Yazdanpanahi N et al.
International Journal of Audiology, 2015
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
Soh LM et al.
European Journal of Endocrinology, 2015
Patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss and endolymphatic hydrops.
Yoshida T et al.
The Journal of Laryngology and Otology, 2015
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
Jiang Y et al.
Plos One, 2015
Identification of a founder mutation for Pendred syndrome in families from northwest Iran.
Mohseni M et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
Ladsous M et al.
Thyroid : Official Journal of the American Thyroid Association, 2014
Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.
Kühnen P et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Mutations in the Pendred Syndrome (PDS/SLC26A) gene: an increasingly complex phenotypic spectrum from goiter to thyroid hypoplasia.
Kopp P
The Journal of Clinical Endocrinology and Metabolism, 2014
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
Rendtorff ND et al.
Clinical Genetics, 2013
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.
Huang CJ et al.
International Journal of Pediatric Otorhinolaryngology, 2013
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
Landa P et al.
Bmc Medical Genetics, 2013
Screening of SLC26A4 gene in autoimmune thyroid diseases.
Kallel R et al.
International Journal of Immunogenetics, 2013
Etiology and audiological outcomes at 3 years for 364 children in Australia.
Dahl HH et al.
Plos One, 2013
[SLC26A4 mutations in a Chinese deafness family discovered by next-generation sequencing technology].
Mao J et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2012
Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.
Cirello V et al.
Molecular and Cellular Endocrinology, 2012