Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Disease and IHH[original query] |
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| Is there a role for the IHH gene in Hirschsprung's disease? Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 2003 Dec 15 (6): 663-8. Garcia-Barceló M-M, Lee W-S, Sham M-H, Lui V C-H, Tam P K |
| Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism. Fertility and sterility 2014 Oct 102 (4): 1130-1136.e3. Izumi Yoko, Suzuki Erina, Kanzaki Susumu, Yatsuga Shuichi, Kinjo Saori, Igarashi Maki, Maruyama Tetsuo, Sano Shinichiro, Horikawa Reiko, Sato Naoko, Nakabayashi Kazuhiko, Hata Kenichiro, Umezawa Akihiro, Ogata Tsutomu, Yoshimura Yasunori, Fukami Ma |
| Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. American journal of human genetics 2016 Jul . Hildebrand Michael S, Griffin Nicole G, Damiano John A, Cops Elisa J, Burgess Rosemary, Ozturk Ezgi, Jones Nigel C, Leventer Richard J, Freeman Jeremy L, Harvey A Simon, Sadleir Lynette G, Scheffer Ingrid E, Major Heather, Darbro Benjamin W, Allen Andrew S, Goldstein David B, Kerrigan John F, Berkovic Samuel F, Heinzen Erin |
| Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations. European journal of endocrinology 2017 8 177 (4): 389-398. Nie Min, Xu Hongli, Chen Rongrong, Mao Jiangfeng, Wang Xi, Xiong Shuyu, Zheng Junjie, Yu Bingqing, Cui Mingxuan, Ma Wanlu, Huang Qibin, Zhang Hongbing, Wu Xuey |
| Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism. Clinical genetics 2019 Feb 95 (2): 320-324. Kotan Leman D, Isik Emregul, Turan Ihsan, Mengen Eda, Akkus Gamze, Tastan Mehmet, Gurbuz Fatih, Yuksel Bilgin, Topaloglu A Kem |
| Nocturnal Hypoxia Activation of the Hedgehog Signaling Pathway Affects Pediatric Nonalcoholic Fatty Liver Disease Severity. Hepatology communications 2019 7 3 (7): 883-893. Sundaram Shikha S, Swiderska-Syn Marzena, Sokol Ronald J, Halbower Ann C, Capocelli Kelley E, Pan Zhaoxing, Robbins Kristen, Graham Brian, Diehl Anna M |
| Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China. Journal of clinical laboratory analysis 2019 Dec e23139. Geng Dongfeng, Zhang Hongguo, Liu Xiangyin, Fei Jia, Jiang Yuting, Liu Ruizhi, Wang Ruixue, Zhang Guiro |
| Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort. The Journal of clinical endocrinology and metabolism 2019 11 105 (5): . Li Jia-Da, Wu Jiayu, Zhao Yaguang, Wang Xinying, Jiang Fang, Hou Qiao, Chen Dan-Na, Zheng Ruizhi, Yu Renhe, Zhou Wei, Men Meich |
| Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. Scientific reports 2020 7 10 (1): 10985. Kinjo Kenichi, Nagasaki Keisuke, Muroya Koji, Suzuki Erina, Ishiwata Keisuke, Nakabayashi Kazuhiko, Hattori Atsushi, Nagao Koji, Nozawa Ryu-Suke, Obuse Chikashi, Miyado Kenji, Ogata Tsutomu, Fukami Maki, Miyado Ma |
| CHD7 missense variants and clinical characteristics of Chinese males with infertility. Molecular genetics & genomic medicine 2020 6 8 (9): e1372. Li Leilei, Wang Ruixue, Yu Yang, Zhang Hongguo, Jiang Yuting, Yang Xiao, Liu Ruiz |
| Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience. Journal of the Formosan Medical Association = Taiwan yi zhi 2021 3 121 (1 Pt 1): 218-226. Cho Chih-Yi, Tsai Wen-Yu, Lee Cheng-Ting, Liu Shih-Yao, Huang Shu-Yuan, Chien Yin-Hsiu, Hwu Wuh-Liang, Lee Ni-Chung, Tung Yi-Chi |
| 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 |
| Whole-Exome Sequencing Analysis of Idiopathic Hypogonadotropic Hypogonadism: Comparison of Varicocele and Nonobstructive Azoospermia. Reproductive sciences (Thousand Oaks, Calif.) 2023 9 . Ziyang Ma, Yi Dai, Lei Jin, Yi Luo, Chen Guo, Rui Qu, Shengyin He, Yugao Liu, Yu Xia, Huan Liu, Lingnan Kong, Miaomiao Xu, Lanlan Zhang, Yue Zhao, Yushanjiang Suliya, Dongzhi Yuan, Luo Ya |
| A clinicopathological exploration of Hedgehog signaling: implications in oral carcinogenesis. Journal of cancer research and clinical oncology 2023 9 . Hitarth V Patel, Jigna S Joshi, Franky D Sh |
| How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism. Human genetics 2023 10 . Wanxue Xu, Lacey Plummer, Stephanie B Seminara, Ravikumar Balasubramanian, Margaret F Lippinco |
| Low MBOAT7 expression, a genetic risk for MASH, promotes a pro-fibrotic pathway involving hepatocyte TAZ upregulation. Hepatology (Baltimore, Md.) 2024 5 . Mary P Moore, Xiaobo Wang, John Paul Kennelly, Hongxue Shi, Yuki Ishino, Kuniyuki Kano, Junken Aoki, Alessandro Cherubini, Luisa Ronzoni, Xiuqing Guo, Naga P Chalasani, Shareef Khalid, Danish Saleheen, Mathew A Mitsche, Jerome I Rotter, Katherine P Yates, Luca Valenti, Nozomu Kono, Peter Tontonoz, Ira Tab |
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