Associated Papers
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.
Sklenar M et al.
Molecular Medicine (cambridge, Mass.), 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.
Alerasool M et al.
Clinical Genetics, 2024
Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies.
Yilmaz U et al.
Ear, Nose, & Throat Journal, 2024
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
Zhuri D et al.
The Journal of International Advanced Otology, 2024
High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation.
Rodriguez-Valero M et al.
Laryngoscope Investigative Otolaryngology, 2024
Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing.
Rezaie N et al.
Molecular Biology Reports, 2024
Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.
Li YQ et al.
Bmc Medical Genomics, 2024
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Alkhidir S et al.
Scientific Reports, 2024
Postnatal genetic umbilical cord analysis for earliest possible detection of inherited hearing impairment.
Ketterer MC 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, 2023
Next-generation sequencing improves precision medicine in hearing loss.
Imizcoz T et al.
Frontiers in Genetics, 2023
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A et al.
Human Genetics, 2022
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 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
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.
Budde BS et al.
Clinical Genetics, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Genetics of hearing loss in the Arab population of Northern Israel.
Danial-Farran N et al.
European Journal of Human Genetics : Ejhg, 2018
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.
Almontashiri NAM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Cengiz FB et al.
International Journal of Pediatric Otorhinolaryngology, 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
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.
de Moraes VCS et al.
Molecular Medicine (cambridge, Mass.), 2016
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 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
The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.
Yazdanpanahi N et al.
International Journal of Audiology, 2015
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
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
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.
Yao G et al.
International Journal of Pediatric Otorhinolaryngology, 2013
A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.
Babanejad M et al.
American Journal of Medical Genetics. Part A, 2012
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
Chen N et al.
The Journal of Molecular Diagnostics : Jmd, 2011
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
Kahrizi K et al.
European Journal of Pediatrics, 2009
Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.
Lofrano-Porto A et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
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.
Pera A et al.
European Journal of Human Genetics : Ejhg, 2008
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
Usami S et al.
Acta Oto-laryngologica, 2008
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
Prasad S et al.
American Journal of Medical Genetics. Part A, 2004
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.
Tsukamoto K et al.
European Journal of Human Genetics : Ejhg, 2003
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
López-Bigas N et al.
Human Mutation, 2002
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
Fugazzola L et al.
Pediatric Research, 2002
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
López-Bigas N et al.
Human Mutation, 2001
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Campbell C et al.
Human Mutation, 2001
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.
Fugazzola L et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
[Pendred syndrome and nonsyndromic related deafness: a same entity?].
Wemeau JL et al.
Bulletin De L'academie Nationale De Medecine, 0