Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 42 Records) |
| Query Trace: Disease and SLC26A4[original query] |
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| Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India. Gene 2015 Dec 573 (2): 239-45. Adhikary Bidisha, Ghosh Sudakshina, Paul Silpita, Bankura Biswabandhu, Pattanayak Arup Kumar, Biswas Subhradev, Maity Biswanath, Das Madhusud |
| Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family. Iranian journal of basic medical sciences 2016 Jul 19 (7): 772-8. Reiisi Somayeh, Tabatabaiefar Mohammad Amin, Sanati Mohammad Hosein, Chaleshtori Morteza Hashemzad |
| High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China. European journal of medical genetics 2016 Aug . Jiang Hong, Wu Jinhua, Ke Shengzhong, Hu Yue, Fei Anxing, Zhen Yan, Yu Jin, Zhu Kuich |
| Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ. The Journal of clinical endocrinology and metabolism 2016 Aug jc20161879. Nicholas A K, Serra E G, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb A M, AlMaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray P G, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies J H, Puthi V, Park S-M, Massoud A F, Gregory J W, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher E R, Chatterjee K, Anderson C A, Schoenmakers |
| Discrepancies between video head impulse and caloric tests in patients with enlarged vestibular aqueduct. The Laryngoscope 2016 Jul . Jung Jinsei, Suh Michelle J, Kim Sung Hu |
| Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. Thyroid : official journal of the American Thyroid Association 2016 Jul . Löf Christoffer, Patyra Konrad, Kuulasmaa Teemu, Vangipurapu Jagadish, Undeutsch Henriette, Jäschke Holger, Pajunen Tuulia, Kero Andreina, Krude Heiko, Biebermann Heike, Kleinau Gunnar, Kühnen Peter, Rantakari Krista, Miettinen Päivi, Kirjavainen Turkka, Pursiheimo Juha-Pekka, Mustila Taina, Jääskeläinen Jarmo, Ojaniemi Marja, Toppari Jorma, Ignatius Jaakko, Laakso Markku, Kero Juk |
| High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. PloS one 2018 13 (9): e0204323. Makretskaya Nina, Bezlepkina Olga, Kolodkina Anna, Kiyaev Alexey, Vasilyev Evgeny V, Petrov Vasily, Kalinenkova Svetlana, Malievsky Oleg, Dedov Ivan I, Tiulpakov Anato |
| Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. International journal of endocrinology 2018 8 2018 8986475. Chen Xi, Kong Xiaohong, Zhu Jie, Zhang Tingting, Li Yanwei, Ding Guifeng, Wang Huiju |
| Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. The Journal of clinical endocrinology and metabolism 2018 3 103 (5): 1889-1898. Zou Minjing, Alzahrani Ali S, Al-Odaib Ali, Alqahtani Mohammad A, Babiker Omer, Al-Rijjal Roua A, BinEssa Huda A, Kattan Walaa E, Al-Enezi Anwar F, Al Qarni Ali, Al-Faham Manar S A, Baitei Essa Y, Alsagheir Afaf, Meyer Brian F, Shi Yuf |
| Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease. Frontiers in genetics 2019 10 76. Gallego-Martinez Alvaro, Requena Teresa, Roman-Naranjo Pablo, Lopez-Escamez Jose |
| Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features. 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 9 278 (7): 2305-2312. Forli F, Lazzerini F, Auletta G, Bruschini L, Berrettini |
| Investigation of DFNB4 SLC26A4 mutation in patients with enlarged vestibular aquaduct. International journal of pediatric otorhinolaryngology 2020 Nov 138 110379. Kinoglu Kubilay, Orhan Kadir Serkan, Kara Hakan, Öztürk Oguz, Polat Beldan, Aydogan Hülya, Çelik Mehmet, Ceviz Ayse Begüm, Güldiken Yah |
| Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene. PloS one 2020 1 15 (1): e0225368. Hasnain Mirza Jawad Ul, Shoaib Muhammad, Qadri Salman, Afzal Bakhtawar, Anwar Tehreem, Abbas Syed Hassan, Sarwar Amina, Talha Malik Hafiz Muhammad, Tariq Pervez Muhamm |
| Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo. Current medical science 2021 Aug 41 (4): 673-679. Gao Yun, Wang Hong-Yang, Guan Jing, Lan Lan, Zhao Cui, Xie Lin-Yi, Wang Da-Yong, Wang Qiu- |
| Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. Frontiers in genetics 2021 6 12 641925. Fareed Mohd, Sharma Varun, Singh Inderpal, Rehman Sayeed Ur, Singh Gurdarshan, Afzal Mohamm |
| Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran. Intractable & rare diseases research 2021 2 10 (1): 23-30. Koohiyan Mahbobeh, Hashemzadeh-Chaleshtori Morteza, Tabatabaiefar Mohammad Am |
| Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism. The Journal of clinical endocrinology and metabolism 2021 10 107 (3): e1263-e1276. Albader Najla, Zou Minjing, BinEssa Huda A, Abdi Saba, Al-Enezi Anwar F, Meyer Brian F, Alzahrani Ali S, Shi Yuf |
| Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis. Endocrine 2022 5 77 (1): 86-101. Molina Maricel F, Papendieck Patricia, Sobrero Gabriela, Balbi Viviana A, Belforte Fiorella S, Martínez Elena Bueno, Adrover Ezequiela, Olcese María C, Chiesa Ana, Miras Mirta B, González Verónica G, Pio Mauricio Gomes, González-Sarmiento Rogelio, Targovnik Héctor M, Rivolta Carina |
| Molecular etiology study of hearing loss in 13 Chinese Han families. Frontiers in neurology 2022 12 13 1048218. Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J |
| Identification of potential susceptibility genes in patients with primary Sjögren's syndrome-associated pulmonary arterial hypertension through whole exome sequencing. Arthritis research & therapy 2023 9 25 (1): 175. Mucong Li, Yue Shi, Jiuliang Zhao, Qian Wang, Mengtao Li, Xiuli Zh |
| Genetic diagnosis of fetal microcephaly at a single tertiary center in China. Frontiers in genetics 2023 5 14 1112153. You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li |
| [A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
| Preimplantation genetic testing for hereditary hearing loss in Chinese population. Journal of assisted reproduction and genetics 2023 4 . Bi Qingling, Huang Shasha, Wang Hui, Gao Xue, Ma Minyue, Han Mingyu, Lu Sijia, Kang Dongyang, Nourbakhsh Aida, Yan Denise, Blanton Susan, Liu Xuezhong, Yuan Yongyi, Yao Yuanqing, Dai |
| Next-generation sequencing for genetic testing of hearing loss populations. Clinica chimica acta; international journal of clinical chemistry 2023 12 552 117693. Lulu Wang, Gang Liu, Dingyuan Ma, Huasha Zeng, Yuguo Wang, Chunyu Luo, Jingjing Zhang, Zhengfeng |
| Functional characterization of thyroid peroxidase missense variants causing thyroid dyshormonogenesis in Asian Indian population. Hormone research in paediatrics 2024 7 . Asodu Sandeep Sarma, Ankush Desai, Madhava Rao, Jaya Prakash Sahoo, Channabasappa Shivaprasad, Prajnya Ranganath, Pragna Lakshmi, Lorraine D'Sa, Ashwin Dal |
| Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients. Iranian journal of public health 2024 6 53 (2): 453-461. Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorif |
| Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia. Croatian medical journal 2024 6 65 (3): 198-208. Ivona Sansovi?, Ana-Maria Meaši?, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak, Katarina Vulin, Bernarda Lozi?, Mijana Kero, Sanda Huljev Frkovi?, Silvija Pušelj |
| Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China. Heliyon 2024 12 10 (20): e38802. Jingyu Li, Shiyu Zhou, Jiahong Pei, Wanzhen Li, Rongjie Cui, Xiaofei Ren, Jingru Wei, Qian Li, Baosheng Zhu, Yaliang Sa, Yunlong |
| Correlation between the etiology of severe hearing loss and endolymphatic hydrops. 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 2024 10 . Sung-Min Park, Jin Hee Han, Jung Kyu Lee, Byung Se Choi, Yun Jung Bae, Byung Yoon Ch |
| Genetic predisposition to differentiated thyroid cancer among Polish population. Polish archives of internal medicine 2024 1 . Martyna Borowczyk, Mateusz Sypniewski, Joanna Szyda, Ma?gorzata Braszka, Katarzyna Ziemnicka, Marek Rucha?a, Michalina Oszywa, Zbigniew J Król, Paula Dobo |
- Page last reviewed:Feb 1, 2024
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