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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 8, 2023. (Total: 217765Documents)
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Records 1 - 14 (of 14 Records)

Query Trace: Syndrome and SOX10[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
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
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
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
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
Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2.
The Journal of international medical research 2020 11 48 (11): 300060520967540.
Liu Xiao-Wen, Wang Su-Yang, Xing Zhan-Kui, Zhu Yi-Ming, Ding Wen-Juan, Duan Lei, Cui Xiao, Xu Bai-Cheng, Li Shu-Juan, Guo Yu-F
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
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan .
Rojas Rebecca A, Kutateladze Anna A, Plummer Lacey, Stamou Maria, Keefe David L, Salnikov Kathyrn B, Delaney Angela, Hall Janet E, Sadreyev Ruslan, Ji Fei, Fliers Eric, Gambosova Katarina, Quinton Richard, Merino Paulina M, Mericq Veronica, Seminara Stephanie B, Crowley William F, Balasubramanian Ravikum
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Clinical endocrinology 2022 9 97 (6): 804-813.
Patil Virendra A, Lila Anurag Ranjan, Shah Nalini, Arya Sneha, Sarathi Vijaya, Shah Ravikumar, Jadhav Swati S, Memon Saba Samad, Karlekar Manjiri, Bandgar Tush
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
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