Results 41 to 50 of about 7,226 (202)

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System. [PDF]

Mol Genet Genomic Med
Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Wang Z, Bai W, Cai X, Huang S, Zeng J, Liang X, Hong X.   +6 more
europepmc   +2 more sources

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

, 2013
Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia.
Bitner-Glindzicz, M, Differ, AM, Jenkins, L, Landa, P, Rajput, K   +4 more
core   +2 more sources

Genotyping Data and Novel Haplotype Diversity of STR Markers in the SLC26A4 Gene Region in Five Ethnic Groups of the Iranian Population [PDF]

, 2014
Background and Aims: SLC26A4 gene mutations are the second currently identifiable genetic cause of autosomal recessive nonsyndromic hearing loss after GJB2 mutations.
Hashemzadeh-Chaleshtori, Morteza., Mesrian Tanha, Hamzeh., Mojtabavi Naeini, Marjan., Vallian-Brojeni, Sadegh.   +3 more
core   +1 more source

Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct. [PDF]

Clin Exp Otorhinolaryngol, 2019
To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families.Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling and parents respectively.
Yu Y, Yang Y, Lu J, Jin Y, Yang Y, Hong E, Shi J, Chen F, Han S, Chu P, Guo Y, Ni X.   +11 more
europepmc   +3 more sources

Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation

Stem Cell Research, 2019
SLC26A4 is the second most frequent gene implicated in congenital hearing loss after GJB2 mutations. Here, we report the generation of induced pluripotent stem cells (iPSCs), from a patient who was carrying a homozygous c.919-2A>G variant in the SLC26A4 ...
Yen-Fu Cheng, Yen-Hui Chan, Chin-Ju Hu, Ying-Chang Lu, Tsubasa Saeki, Makoto Hosoya, Chika Saegusa, Masato Fujioka, Hideyuki Okano, Shih-Ming Weng, Chuan-Jen Hsu, Kuo-Hsuan Chang, Chen-Chi Wu   +12 more
doaj   +1 more source

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. [PDF]

, 2019
BACKGROUND: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
A Bettinelli, A Garcia Castano, A Sanei-Moghaddam, A Shibli Al, Anoush Azarfar, CM Bates, DB Simon, DB Simon, DB Simon, Dor Mohammad Kordi-Tamandani, Ehsan Ghayoor Karimiani, F Tinsa, Farkhondeh Behjati, FC Bartter, G Morineau, G Vilotijevic-Dautovic, H Blons, H Saneian, HJ Gitelman, I Kurtz, I Pela, I Zelikovic, I Zelikovic, Isabel Schüle, J Souza-Menezes, JJ Gorgojo, JL Wemeau, K Kosicka, K Laghmani, K Nozu, M Konrad, M Soleimani, M Yau, Maryam Najafi, Miriam Schmidts, MJ Galaviz-Ballesteros, MJ McGinniss, MM Dahabreh, N Kandasamy, ND Rendtorff, O Eğrıtaş, P Hoglund, R Birkenhäger, S Baumner, S Makela, S Watanabe, Simin Sadeghi-Bojd, W Reardon, YF Guo, Zeineb Bakey   +49 more
core   +3 more sources

A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family [PDF]

, 2014
BACKGROUND: The genetic basis of autosomal dominant nonsyndromic hearing loss is complex. Genetic factors are responsible for approximately 50% of cases with congenital hearing loss. However, no previous studies have documented the clinical phenotype and
Bai, Haihua, Chen, Yujie, Guilan,, Liu, Yangjian, Narisu, Narisu, Suyalatu,, Temuribagen,, Wu, Huiguang, Wu, Qizhu, Yang, Xukui   +9 more
core   +2 more sources

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

, 2017
List of PCR primers used.
Jia-Shiun Khoo, Loo-Ling Wu, Nor Azian Abdul Murad, Pei-Sin Chong, Rahman Jamal, Yock-Ping Chow, Zamzureena Mohd Rani   +6 more
core   +3 more sources

Association of intronic repetition of SLC26A4 gene with Hashimoto thyroiditis disease

Genetics Research, 2013
SummaryIntronic microsatellites repeats were implicated in the pathogenic mechanisms of several diseases. SLC26A4 gene, involved in the genetic susceptibility of autoimmune thyroid disease (AITD), harbours large non-coding introns. Using the tandem repeat finder (TRF) Software, two new polymorphic microsatellite markers, rs59736472 and rs57250751 ...
Salima, Belguith-Maalej, Rihab, Kallel, Mouna, Mnif, Mohamed, Abid, Hammadi, Ayadi, Hassen Hadj, Kacem   +5 more
openaire   +2 more sources

Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

Journal of Translational Medicine, 2008
Background The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations.
Wu Bailin, Yuan Huijun, Kang Dongyang, Yu Fei, Zhu Xiuhui, Huang Deliang, Yuan Yongyi, Dai Pu, Han Dongyi, Wong Lee-Jun C   +9 more
doaj   +1 more source