Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 42 Records) |
Query Trace: Pendred Syndrome[original query] |
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Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. PloS one 2012 7 (11): 11. Yuan Y, Guo W, Tang J, Zhang G, Wang G, Han M, Zhang X, Yang S, He DZ, Dai P |
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 |
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. BMC medical genetics 2013 14 85. Landa Priya, Differ Ann-Marie, Rajput Kaukab, Jenkins Lucy, Bitner-Glindzicz Mar |
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 |
Screening of SLC26A4 gene in autoimmune thyroid diseases. International journal of immunogenetics 2012 Dec . Kallel R, Niasme-Grare M, Belguith-Maalej S, Mnif M, Abid M, Ayadi H, Masmoudi S, Jonard L, Hadj Kacem H |
Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients. International journal of pediatric otorhinolaryngology 2013 Mar 77 (3): 410-3. de Moraes Vanessa Cristine Sousa, dos Santos Nathalia Zocal Pereira, Ramos Priscila Zonzini, Svidnicki Maria Carolina Costa Melo, Castilho Arthur Menino, Sartorato Edi Lúc |
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, |
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 |
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 |
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 |
[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 |
Comprehensive analysis of syndromic hearing loss patients in Japan. Scientific reports 2019 8 9 (1): 11976. Ideura Michie, Nishio Shin-Ya, Moteki Hideaki, Takumi Yutaka, Miyagawa Maiko, Sato Teruyuki, Kobayashi Yumiko, Ohyama Kenji, Oda Kiyoshi, Matsui Takamichi, Ito Tsukasa, Suzumura Hiroshi, Nagai Kyoko, Izumi Shuji, Nishiyama Nobuhiro, Komori Manabu, Kumakawa Kozo, Takeda Hidehiko, Kishimoto Yoko, Iwasaki Satoshi, Furutate Sakiko, Ishikawa Kotaro, Fujioka Masato, Nakanishi Hiroshi, Nakayama Jun, Horie Rie, Ohta Yumi, Naito Yasushi, Kakudo Mariko, Sakaguchi Hirofumi, Kataoka Yuko, Sugahara Kazuma, Hato Naohito, Nakagawa Takashi, Tsuchihashi Nana, Kanda Yukihiko, Kihara Chiharu, Tono Tetsuya, Miyanohara Ikuyo, Ganaha Akira, Usami Shin-Ic |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys. Molecular genetics & genomic medicine 2022 1 10 (2): e1868. Said Mariem Ben, Ayed Ikhlas Ben, Elloumi Ines, Hasnaoui Mehdi, Souissi Amal, Idriss Nabil, Aloulou Hajer, Chabchoub Imen, Maâlej Bayen, Driss Dorra, Masmoudi Sab |
Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases. European review for medical and pharmacological sciences 2023 7 27 (12): 5390-5396. Y-L Li, F-Y Gong, Z-Y Dang, W Xiong, M-D Zhang, Y-X Wang, C-C Wang, Z-G J |
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). Genes 2023 4 14 (4): . Valeriia Yu Danilchenko, Marina V Zytsar, Ekaterina A Maslova, Konstantin E Orishchenko, Olga L Posu |
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais. BMC medical genomics 2024 1 17 (1): 9. Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelers |
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