Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 41 Records) |
Query Trace: SOX10[original query] |
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Cumulative genetic risk predicts platinum/taxane-induced neurotoxicity. Clinical cancer research : an official journal of the American Association for Cancer Research 2013 Oct 19 (20): 5769-76. McWhinney-Glass Sarah, Winham Stacey J, Hertz Daniel L, Yen Revollo Jane, Paul Jim, He Yijing, Brown Robert, Motsinger-Reif Alison A, McLeod Howard L, |
Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients. European journal of medical genetics 2015 Sep 58 (9): 466-70. Ferreira Marie-Céleste, Dorboz Imen, Rodriguez Diana, Boespflug Tanguy Odi |
[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 |
Human Pigmentation, Cutaneous Vitamin D Synthesis and Evolution: Variants of Genes (SNPs) Involved in Skin Pigmentation Are Associated with 25(OH)D Serum Concentration. Anticancer research 2016 Mar 36 (3): 1429-37. Rossberg Willi, Saternus Roman, Wagenpfeil Stefan, Kleber Marcus, März Winfried, Reichrath Sandra, Vogt Thomas, Reichrath Jö |
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 |
Quantitative Analysis of Immune Infiltrates in Primary Melanoma. Cancer immunology research 2018 2 6 (4): 481-493. Gartrell Robyn D, Marks Douglas K, Hart Thomas D, Li Gen, Davari Danielle R, Wu Alan, Blake Zoë, Lu Yan, Askin Kayleigh N, Monod Anthea, Esancy Camden L, Stack Edward C, Jia Dan Tong, Armenta Paul M, Fu Yichun, Izaki Daisuke, Taback Bret, Rabadan Raul, Kaufman Howard L, Drake Charles G, Horst Basil A, Saenger Yvonne |
Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China. Medical science monitor : international medical journal of experimental and clinical research 2019 Aug 25 5801-5812. Liu Xiangyin, Xi Qi, Li Leilei, Wang Qiyuan, Jiang Yuting, Zhang Hongguo, Liu Ruizhi, Wang Ruix |
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- |
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Annals of neurology 2019 Mar 85 (3): 316-330. Tao Feifei, Beecham Gary W, Rebelo Adriana P, Svaren John, Blanton Susan H, Moran John J, Lopez-Anido Camila, Morrow Jasper M, Abreu Lisa, Rizzo Devon, Kirk Callyn A, Wu Xingyao, Feely Shawna, Verhamme Camiel, Saporta Mario A, Herrmann David N, Day John W, Sumner Charlotte J, Lloyd Thomas E, Li Jun, Yum Sabrina W, Taroni Franco, Baas Frank, Choi Byung-Ok, Pareyson Davide, Scherer Steven S, Reilly Mary M, Shy Michael E, Züchner Stephan, |
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 |
Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease. Molecular and cellular endocrinology 2020 8 517 110968. Gach Agnieszka, Pinkier Iwona, Sa?aci?ska Kinga, Szarras-Czapnik Maria, Salachna Dominik, Kuci?ska Agata, Rybak-Krzyszkowska Magda, Sakowicz Aga |
Conjunctival nevi and melanoma: multiparametric immunohistochemical analysis, including p16, SOX10, HMB45, and Ki-67. Human pathology 2020 7 103 107-119. Milman Tatyana, Zhang Qiang, Ang SuMae, Elder David, Ida Cristiane M, Salomao Diva R, Lally Sara E, Shields Jerry A, Hamershock Rose A, Sioufi Kareem, Shields Carol L, Eagle Ralph |
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 |
HMGA2-WIF1 Rearrangements Characterize a Distinctive Subset of Salivary Pleomorphic Adenomas With Prominent Trabecular (Canalicular Adenoma-like) Morphology. The American journal of surgical pathology 2021 7 46 (2): 190-199. Agaimy Abbas, Ihrler Stephan, Ban??ková Martina, Costés Martineau Valérie, Mantsopoulos Konstantinos, Hartmann Arndt, Iro Heinrich, Stoehr Robert, Skálová Ale |
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China. Frontiers in genetics 2021 12 637096. Cai Luhang, Liu Ya, Xu Yaping, Yang Hang, Lv Lihui, Li Yang, Chen Qiongqiong, Lin Xiaojiang, Yang Yihui, Hu Guangwei, Zheng Guofeng, Zhou Jing, Qian Qiyong, Xu Mei-Ai, Fang Jin, Ding Jianjun, Chen Wei, Gao Jio |
Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports. Genes 2021 Feb 12 (2): . Peplonska Beata, Piestrzynska-Kajtoch Agata, Huminska-Lisowska Kinga, Adamczyk Jakub Grzegorz, Siewierski Marcin, Gurgul Artur, Fornal Agnieszka, Michalowska-Sawczyn Monika, Zekanowski Cezary, Cieszczyk Pawel, Berdynski Mariu |
Triple-negative breast lobular carcinoma: a luminal androgen receptor carcinoma with specific ESRRA mutations. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2021 Mar . Bergeron Anthony, MacGrogan Gaëtan, Bertaut Aurélie, Ladoire Sylvain, Arveux Patrick, Desmoulins Isabelle, Bonnefoi Hervé, Loustalot Catherine, Auriol Sophie, Beltjens Françoise, Degrolard-Courcet Emilie, Charon-Barra Céline, Richard Corentin, Boidot Romain, Arnould Laure |
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 variants predictive of chemotherapy-induced peripheral neuropathy symptoms in gynecologic cancer survivors. Gynecologic oncology 2021 Oct . Thomaier Lauren, Darst Burcu F, Jewett Patricia, Hoffmann Cody, Brown Katherine, Makaram Aditi, Blaes Anne, Argenta Peter, Teoh Deanna, Vogel Rachel |
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 |
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes. Orphanet journal of rare diseases 2022 3 17 (1): 114. Mutai Hideki, Momozawa Yukihide, Kamatani Yoichiro, Nakano Atsuko, Sakamoto Hirokazu, Takiguchi Tetsuya, Nara Kiyomitsu, Kubo Michiaki, Matsunaga Tats |
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 |
The interplay of common genetic variants NRG1 rs2439302 and RET rs2435357 increases the risk of developing Hirschsprung's disease. Frontiers in cell and developmental biology 2023 7 11 1184799. Shuiqing Chi, Shuai Li, Guoqing Cao, Jialing Guo, Yunqiao Han, Yun Zhou, Xi Zhang, Yibo Li, Zhibin Luo, Xiangyang Li, Liying Rong, Mengxin Zhang, Linglu Li, Shaotao Ta |
Clinicopathological characteristics of the SOX10+ subset of HER2+ breast cancer. Annals of diagnostic pathology 2023 1 63 152087. Weisman Paul, Yu Qiqi, Xu J |
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- Page last updated:Apr 16, 2024
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