HuGE Literature Finder
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| 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 |
| 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 |
| [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 |
| Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. International journal of pediatric otorhinolaryngology 2017 10 101 167-171. Cengiz Filiz Basak, Yilmazer Rasim, Olgun Levent, Sennaroglu Levent, Kirazli Tayfun, Alper Hudaver, Olgun Yuksel, Incesulu Armagan, Atik Tahir, Huesca-Hernandez Fabiola, Domínguez-Aburto Juan, González-Rosado Garly, Hernandez-Zamora Edgar, Arenas-Sordo Maria de la Luz, Menendez Ibis, Orhan Kadir Serkan, Avci Hakan, Mahdieh Nejat, Bonyadi Mortaza, Foster Joseph, Duman Duygu, Ozkinay Ferda, Blanton Susan H, Bademci Guney, Tekin Musta |
| 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 |
| Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. Journal of translational medicine 2011 9 (1): 167. Huang Shasha, Han Dongyi, Yuan Yongyi, Wang Guojian, Kang Dongyang, Zhang Xin, Yan Xiaofei, Meng Xiaoxiao, Dong Min, Dai |
| Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. Archives of otolaryngology--head & neck surgery 2009 Jul 135 (7): 670-6. Madeo Anne C, Manichaikul Ani, Reynolds James C, Sarlis Nicholas J, Pryor Shannon P, Shawker Thomas H, Griffith Andrew |
| Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. Acta oto-laryngologica 2007 Dec 127 (12): 1292-7. Suzuki Hiroaki, Oshima Aki, Tsukamoto Koji, Abe Satoko, Kumakawa Kozo, Nagai Kyoko, Satoh Hitoshi, Kanda Yukihiko, Iwasaki Satoshi, Usami Shin-ic |
| Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct. Journal of endocrinological investigation 2004 May 27 (5): 430-5. Bogazzi F, Russo D, Raggi F, Ultimieri F, Berrettini S, Forli F, Grasso L, Ceccarelli C, Mariotti S, Pinchera A, Bartalena L, Martino |
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