HuGE Literature Finder
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| Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation. International journal of pediatric otorhinolaryngology 2022 7 159 111218. Elander Johanna, Ullmark Tove, Ehrencrona Hans, Jonson Tord, Piccinelli Paul, Samuelsson Sofie, Löwgren Karolina, Falkenius-Schmidt Karolina, Ehinger Johannes, Stenfeldt Karin, Värendh Mar |
| Molecular diagnose of a large hearing loss population from China by targeted genome sequencing. Journal of human genetics 2022 8 67 (11): 643-649. Wu Jie, Cao Zongfu, Su Yu, Wang Yang, Cai Ruikun, Chen Jiyue, Gao Bo, Han Mingyu, Li Xiaohong, Zhang DeJun, Gao Xue, Huang Shasha, Huang Quanfei, Yuan Yongyi, Ma Xu, Dai |
| 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 |
| Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip. Journal of clinical medicine 2022 2 11 (4): . Ganaha Akira, Hishinuma Eiji, Kaname Tadashi, Hiratsuka Masahiro, Kondo Shunsuke, Tono Tetsu |
| Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts. International journal of pediatric otorhinolaryngology 2021 11 152 110975. Nakano Atsuko, Arimoto Yukiko, Mutai Hideki, Nara Kiyomitsu, Inoue Satomi, Matsunaga Tats |
| Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia). Diagnostics (Basel, Switzerland) 2021 12 11 (12): . Danilchenko Valeriia Yu, Zytsar Marina V, Maslova Ekaterina A, Bady-Khoo Marita S, Barashkov Nikolay A, Morozov Igor V, Bondar Alexander A, Posukh Olga |
| 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 |
| Pendred Syndrome, or Not Pendred Syndrome? That Is the Question. Genes 2021 10 12 (10): . Tesolin Paola, Fiorino Sofia, Lenarduzzi Stefania, Rubinato Elisa, Cattaruzzi Elisabetta, Ammar Lydie, Castro Veronica, Orzan Eva, Granata Claudio, Dell'Orco Daniele, Morgan Anna, Girotto Giorg |
| 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 |
| 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 |
| Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA. The Laryngoscope 2019 Nov 129 (11): 2574-2579. Mey Kristianna, Muhamad Ali A, Tranebjaerg Lisbeth, Rendtorff Nanna D, Rasmussen Stig H, Bille Michael, Cayé-Thomasen P |
| 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 Jul 40 101524. Cheng Yen-Fu, Chan Yen-Hui, Hu Chin-Ju, Lu Ying-Chang, Saeki Tsubasa, Hosoya Makoto, Saegusa Chika, Fujioka Masato, Okano Hideyuki, Weng Shih-Ming, Hsu Chuan-Jen, Chang Kuo-Hsuan, Wu Chen-C |
| SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct. BMC medical genetics 2019 Jul 20 (1): 118. Chao Janet R, Chattaraj Parna, Munjal Tina, Honda Keiji, King Kelly A, Zalewski Christopher K, Chien Wade W, Brewer Carmen C, Griffith Andrew |
| The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 2 40 (3): e178-e185. Mey Kristianna, Bille Michael, Rye Rasmussen Stig Hebbelstrup, Tranebjærg Lisbeth, Cayé-Thomasen P |
| [Identification of a novel mutation of SLC26A4 gene with enlarged vestibular aqueduct syndrome]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2018 6 31 (9): 694-696. Chen J, Shi L S, Zhou H, Zhu G J, Ma D B, Li J Y, Gao |
| Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct. The Journal of molecular diagnostics : JMD 2018 10 21 (1): 138-148. Lin Yin-Hung, Wu Chen-Chi, Lin Yi-Hsin, Lu Ying-Chang, Chen Chih-Shan, Liu Tien-Chen, Chen Pei-Lung, Hsu Chuan-J |
| [An analysis of the mutation in GJB2?GJB3?SLC26A4 and mtDNA12SrRNA in new born]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2017 May 31 (9): 664-666. Chai F, Zhao H L, Qiu S |
| [Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. Genetika 2017 Jan 53 (1): 88-99. Mironovich O L, Bliznetz E A, Markova T G, Geptner E N, Lalayants M R, Zelikovich E I, Tavartkiladze G A, Polyakov A |
| Hearing-loss-associated gene detection in neonatal intensive care unit. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2017 Jan 1-12. Yang S M, Liu Ying, Liu C, Yin A H, Wu Y F, Zheng X E, Yang H M, Yang |
| Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes. Molecular medicine reports 2016 May . Li Yunlong, Zhu Baoshe |
| Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism. Archives of endocrinology and metabolism 2016 Feb . Fu Chunyun, Zheng Haiyang, Zhang Shujie, Chen Yun, Su Jiasun, Wang Jin, Xie Bobo, Hu Xuyun, Fan Xin, Luo Jingsi, Li Chuan, Chen Rongyu, Shen Yiping, Chen Shao |
| Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). PloS one 2016 11 (4): e0153841. ?hurbanov Alexander Y, Karafet Tatiana M, Morozov Igor V, Mikhalskaia Valeriia Yu, Zytsar Marina V, Bondar Alexander A, Posukh Olga |
| Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. European journal of endocrinology / European Federation of Endocrine Societies 2015 Feb 172 (2): 217-26. Soh Lip Min, Druce Maralyn, Grossman Ashley B, Differ Ann-Marie, Rajput Liala, Bitner-Glindzicz Maria, Korbonits Már |
| The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. International journal of audiology 2015 Feb 54 (2): 124-30. Yazdanpanahi Nasrin, Tabatabaiefar Mohammad Amin, Bagheri Nader, Azadegan Dehkordi Fatemeh, Farrokhi Effat, Hashemzadeh Chaleshtori Morte |
| Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. Clinical genetics 2014 Sep 86 (3): 270-5. Lee H J, Jung J, Shin J W, Song M H, Kim S H, Lee J-H, Lee K-A, Shin S, Kim U-K, Bok J, Lee K-Y, Choi J Y, Park H |
| Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. Journal of human genetics 2014 May 59 (5): 262-8. Miyagawa Maiko, Nishio Shin-Ya, Usami Shin-Ichi, |
| Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. Thyroid : official journal of the American Thyroid Association 2014 Apr 24 (4): 639-48. Ladsous Miriam, Vlaeminck-Guillem Virginie, Dumur Viviane, Vincent Christophe, Dubrulle Frédérique, Dhaenens Claire-Marie, Wémeau Jean-Lou |
| Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome. Acta oto-laryngologica 2013 Dec 133 (12): 1242-9. Zhao Fei-Fan, Lan Lan, Wang Da-Yong, Han Bing, Qi Yue, Zhao Yali, Zong Liang, Li Qian, Wang Qiu- |
| [The clinical application of gene chips combined with CT examination in the diagnosis of large vestibular aqueduct syndrome patients]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2013 Oct 27 (19): 1073-5. Zhou Feng, Lin Ying, Luo Qiong, Chen Xiaoke, Huang Lifen, Liang Zijian, Wang Haitao, Yu Fe |
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- Page last updated:Mar 22, 2023
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