Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 41 Records) |
| Query Trace: Syndrome and GJB2[original query] |
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| Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genetics in medicine : official journal of the American College of Medical Genetics 2010 Aug 12 (8): 512-6. Kimberling William J, Hildebrand Michael S, Shearer A Eliot, Jensen Maren L, Halder Jennifer A, Trzupek Karmen, Cohn Edward S, Weleber Richard G, Stone Edwin M, Smith Richard J |
| Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). Annals of human genetics 2010 Jul 74 (4): 299-307. Pourová Radka, Janousek Petr, Jurovcík Michal, Dvoráková Marcela, Malíková Marcela, Rasková Dagmar, Bendová Olga, Leonardi Emanuela, Murgia Alessandra, Kabelka Zdenek, Astl Jaromír, Seeman Pav |
| 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 |
| Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria. International journal of pediatric otorhinolaryngology 2014 Nov 78 (11): 1870-3. Lasisi Akeem O, Bademci Guney, Foster Joseph, Blanton Susan, Tekin Musta |
| WFS1 mutations in hearing-impaired children. International journal of audiology 2014 Jul 53 (7): 446-51. Häkli Sanna, Kytövuori Laura, Luotonen Mirja, Sorri Martti, Majamaa Ka |
| Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations. Genetics in medicine : official journal of the American College of Medical Genetics 2014 Dec 16 (12): 945-53. Vona Barbara, Müller Tobias, Nanda Indrajit, Neuner Cordula, Hofrichter Michaela A H, Schröder Jörg, Bartsch Oliver, Läßig Anne, Keilmann Annerose, Schraven Sebastian, Kraus Fabian, Shehata-Dieler Wafaa, Haaf Thom |
| 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, |
| High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss. Orphanet journal of rare diseases 2015 10 (1): 60. Mizutari Kunio, Mutai Hideki, Namba Kazunori, Miyanaga Yuko, Nakano Atsuko, Arimoto Yukiko, Masuda Sawako, Morimoto Noriko, Sakamoto Hirokazu, Kaga Kimitaka, Matsunaga Tats |
| A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology : JEADV 2016 May . Yang R, Hu Zl, Kong Qt, Li Ww, Zhang Ll, Du X, Huang Sy, Xia Xy, Sang |
| Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. International journal of pediatric otorhinolaryngology 2016 12 92 17-20. Wang Hong-Han, Feng Yong, Li Hai-Bo, Wu Hong, Mei Ling-Yun, Wang Xing-Wei, Jiang Lu, He Chu-Fe |
| 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 |
| [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 |
| Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018 Jul 39 (6): 732-738. Boudewyns An, van den Ende Jenneke, Sommen Manou, Wuyts Wim, Peeters Nils, Van de Heyning Paul, Van Camp G |
| Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome. Clinical genetics 2018 11 95 (3): 398-402. Somashekar Puneeth H, Girisha Katta M, Nampoothiri Sheela, Gowrishankar Kalpana, Devi Radha R, Gupta Neerja, Narayanan Dhanya L, Kaur Anupriya, Bajaj Shruti, Jagadeesh Sujatha, Lewis Leslie E S, Shailaja Shenoy, Shukla An |
| [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 |
| First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss. Turkish archives of otorhinolaryngology 2019 10 57 (3): 140-148. Özy?lmaz Berk, Mercan Gül Caner, K?rb?y?k Özgür, Özdemir Taha Re?id, Özkara Samira, Kaya Özge Özer, Kutbay Ya?ar Bekir, Erdo?an Kadri Murat, Güvenç Merve Saka, Koç Alt |
| Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes. Frontiers in genetics 2020 9 11 991. Xu Yun, Huang Zonghao, Li Cong, Zhu Congcong, Zhang Yuqin, Guo Tian'an, Liu Fangqi, Xu |
| Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10. Neural plasticity 2020 9 2020 8860837. Yu Xiaoyu, Lin Yun, Wu H |
| Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype. Journal of human genetics 2020 May . Cesca Federica, Bettella Elisa, Polli Roberta, Leonardi Emanuela, Aspromonte Maria Cristina, Sicilian Barbara, Stanzial Franco, Benedicenti Francesco, Sensi Alberto, Ciorba Andrea, Bigoni Stefania, Cama Elona, Scimemi Pietro, Santarelli Rosamaria, Murgia Alessand |
| Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population. Journal of advanced research 2021 7 31 13-24. Souissi Amal, Ben Said Mariem, Ben Ayed Ikhlas, Elloumi Ines, Bouzid Amal, Mosrati Mohamed Ali, Hasnaoui Mehdi, Belcadhi Malek, Idriss Nabil, Kamoun Hassen, Gharbi Nourhene, Gibriel Abdullah A, Tlili Abdelaziz, Masmoudi Sab |
| 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 |
| Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study. Hong Kong medical journal = Xianggang yi xue za zhi 2021 Feb . Chan O Y M, Leung T Y, Cao Y, Shi M M, Kwan A H W, Chung J P W, Choy K W, Chong S |
| Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria. European journal of human genetics : EJHG 2021 Nov . Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel |
| Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis. Frontiers in genetics 2021 10 12 707845. Han Shuang, Zhang Dejun, Guo Yingyuan, Fu Zeming, Guan Guofa |
| 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 |
| Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study. Cytogenetic and genome research 2022 5 162 (1-2): 1-9. Reis Cláudia Sousa, Quental Sofia, Fernandes Susana, Castedo Sérgio, Moura Carla Pin |
| [Genetic analysis of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 40 (1): 36-41. Yan Lulu, Liu Yingwen, Zhang Yuxin, Tian Liyun, Cao Juan, Li Hai |
| 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 |
| Follow-up of infants with mild-to-moderate sensorineural hearing loss over three years. International journal of pediatric otorhinolaryngology 2023 8 173 111697. Yanling Hu, Zhongfang Xia, Ping Ch |
| Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
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