Human Genome Epidemiology Literature Finder
|
Records 1 - 20 (of 20 Records) |
| Query Trace: Syndrome and Mitf[original query] |
|---|
| [Mutation analysis of seven patients with Waardenburg syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016 Jun 33 (3): 312-5. Hao Ziqi, Zhou Yongan, Li Pengli, Zhang Quanbin, Li Jiao, Wang Pengfei, Li Xiangshao, Feng Yo |
| CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. Cancer letters 2016 May . Betti M, Aspesi A, Biasi A, Casalone E, Ferrante D, Ogliara P, Gironi L C, Giorgione R, Farinelli P, Grosso F, Libener R, Rosato S, Turchetti D, Maffè A, Casadio C, Ascoli V, Dianzani C, Colombo E, Piccolini E, Pavesi M, Miccoli S, Mirabelli D, Bracco C, Righi L, Boldorini R, Papotti M, Matullo G, Magnani C, Pasini B, Dianzani |
| Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome. Scientific reports 2016 Oct 6 35498. Sun Lianhua, Li Xiaohua, Shi Jun, Pang Xiuhong, Hu Yechen, Wang Xiaowen, Wu Hao, Yang T |
| Clinical and genetic investigation of families with type II Waardenburg syndrome. Molecular medicine reports 2016 Jan . Chen Yong, Yang Fuwei, Zheng Hexin, Zhou Jianda, Zhu Ganghua, Hu Peng, Wu Weiji |
| Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3. JAMA dermatology 2017 11 153 (11): 1122-1129. Delaunay Juliette, Martin Ludovic, Bressac-de Paillerets Brigitte, Duru Gerard, Ingster Olivier, Thomas L |
| Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families. Molecular medicine reports 2017 11 17 (1): 172-178. Wang Li, Qin Litao, Li Tao, Liu Hongjian, Ma Lingcao, Li Wan, Wu Dong, Wang Hongdan, Guo Qiannan, Guo Liangjie, Liao Shix |
| A Comprehensive Genetic and Clinical Evaluation of Waardenburg Syndrome Type II in a Set of Iranian Patients. International journal of molecular and cellular medicine 2018 9 7 (1): 17-23. Jalilian Nazanin, Tabatabaiefar Mohammad Amin, Yazdanpanah Mahboubeh, Darabi Elham, Bahrami Tayyeb, Zekri Ali, Noori-Daloii Mohammad Re |
| 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 |
| New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing. Neural plasticity 2019 2019 7143458. Li Wu, Mei Lingyun, Chen Hongsheng, Cai Xinzhang, Liu Yalan, Men Meichao, Liu Xue Zhong, Yan Denise, Ling Jie, Feng Yo |
| A clinical and genetic study of 16 Japanese families with Waardenburg syndrome. Gene 2019 4 704 86-90. Minami Shujiro B, Nara Kiyomitsu, Mutai Hideki, Morimoto Noriko, Sakamoto Hirokazu, Takiguchi Tetsuya, Kaga Kimitaka, Matsunaga Tats |
| Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome. Gene 2019 3 702 99-106. Dai Wenting, Wu Jiayu, Zhao Yaguang, Jiang Fang, Zheng Ruizhi, Chen Dan-Na, Men Meichao, Li Jia- |
| The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families. International journal of pediatric otorhinolaryngology 2019 12 130 109806. Liu Qin, Cheng Jing, Lu Yu, Zhou Jia, Wang Li, Yang Changliang, Yang Guang, Yang Hui, Cao Jingyuan, Zhang Zhao, Sun |
| Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing. Molecular genetics & genomic medicine 2020 1 8 (3): e1128. Ren Shumin, Chen Xiaojie, Kong Xiangdong, Chen Yibing, Wu Qinghua, Jiao Zhihui, Shi Huiro |
| A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2. Molecular syndromology 2021 8 12 (4): 244-249. Li Ying, Xu Yajuan, Li Genxia, Chen Kang, Yu Haiyang, Gao Jinshuang, Tian Weifang, Liu Yuehua, Liu Pingping, Zhang Linlin, Zhang Zh |
| Exome-based investigation of the genetic basis of human pigmentary glaucoma. BMC genomics 2021 Jun 22 (1): 477. van der Heide Carly, Goar Wes, Meyer Kacie J, Alward Wallace L M, Boese Erin A, Sears Nathan C, Roos Ben R, Kwon Young H, DeLuca Adam P, Siggs Owen M, Gonzaga-Jauregui Claudia, Sheffield Val C, Wang Kai, Stone Edwin M, Mullins Robert F, Anderson Michael G, Fan Bao Jian, Ritch Robert, Craig Jamie E, Wiggs Janey L, Scheetz Todd E, Fingert John |
| Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype. Genetics in medicine : official journal of the American College of Medical Genetics 2021 6 23 (9): 1636-1647. Polubothu Satyamaanasa, Zecchin Davide, Al-Olabi Lara, Lionarons Daniël A, Harland Mark, Horswell Stuart, Thomas Anna C, Hunt Lilian, Wlodarchak Nathan, Aguilera Paula, Brand Sarah, Bryant Dale, Carrera Cristina, Chen Hui, Elgar Greg, Harwood Catherine A, Howell Michael, Larue Lionel, Loughlin Sam, MacDonald Jeff, Malvehy Josep, Barberan Sara Martin, da Silva Vanessa Martins, Molina Miriam, Morrogh Deborah, Moulding Dale, Nsengimana Jérémie, Pittman Alan, Puig-Butillé Joan-Anton, Parmar Kiran, Sebire Neil J, Scherer Stephen, Stadnik Paulina, Stanier Philip, Tell Gemma, Waelchli Regula, Zarrei Mehdi, Puig Susana, Bataille Véronique, Xing Yongna, Healy Eugene, Moore Gudrun E, Di Wei-Li, Newton-Bishop Julia, Downward Julian, Kinsler Veronica |
| Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia. JAMA network open 2021 11 4 (11): e2132615. Gupta Sounak, Erickson Lori A, Lohse Christine M, Shen Wei, Pitel Beth A, Knight Shannon M, Halling Kevin C, Herrera-Hernandez Loren, Boorjian Stephen A, Thompson R Houston, Leibovich Bradley C, Jimenez Rafael E, Cheville John |
| 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 |
| Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome. Human genetics 2022 12 142 (3): 419-430. Li Xiaohong, Huang Shasha, Wang Guojian, Kang Dongyang, Han Mingyu, Wu Xiedong, Yang Jinyuan, Zheng Qiuchen, Zhao Chaoyue, Yuan Yongyi, Dai |
| Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients. International journal of molecular sciences 2023 11 24 (21): . Bianca Costa Soares de Sá, Luciana Facure Moredo, Giovana Tardin Torrezan, Felipe Fidalgo, Érica Sara Souza de Araújo, Maria Nirvana Formiga, João Pereira Duprat, Dirce Maria Carra |
- Page last reviewed:Feb 1, 2024
- Content source: