Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 64 Records) |
Query Trace: IHH[original query] |
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PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a G?-protein leads to biased signaling. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2018 12 33 (3): 4538-4546. Zhao Yaguang, Wu Jiayu, Jia Hong, Wang Xinying, Zheng Ruizhi, Jiang Fang, Chen Dan-Na, Chen Zhiheng, Li Jia- |
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 |
Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism. Fertility and sterility 2019 11 113 (1): 158-166. Men Meichao, Wu Jiayu, Zhao Yaguang, Xing Xiaoliang, Jiang Fang, Zheng Ruizhi, Li Jia- |
Hedgehog signalling network gene status analysis in paediatric intracranial germ cell tumours. Folia neuropathologica 2019 57 (3): 227-238. Kuleszo Dominika, Lipska-Zi?tkiewicz Beata, Koczkowska Magdalena, Zakrzewski Krzysztof, Grajkowska Wies?awa, Roszkowski Marcin, Dembowska-Bagi?ska Bo?enna, Czarnota Katarzyna, Adamkiewicz-Dro?y?ska El?bieta, I?ycka-?wieszewska E |
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature. The Journal of clinical endocrinology and metabolism 2019 1 104 (6): 2023-2030. Freire Bruna L, Homma Thais K, Funari Mariana F A, Lerario Antônio M, Vasques Gabriela A, Malaquias Alexsandra C, Arnhold Ivo J P, Jorge Alexander A |
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea. The Journal of clinical endocrinology and metabolism 2020 9 106 (3): e1441-e1452. Delaney Angela, Burkholder Adam B, Lavender Christopher A, Plummer Lacey, Mericq Veronica, Merino Paulina M, Quinton Richard, Lewis Katie L, Meader Brooke N, Albano Alessandro, Shaw Natalie D, Welt Corrine K, Martin Kathryn A, Seminara Stephanie B, Biesecker Leslie G, Bailey-Wilson Joan E, Hall Janet |
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 |
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD). Frontiers in endocrinology 2020 7 11 368. Budny Bartlomiej, Zemojtel Tomasz, Kaluzna Malgorzata, Gut Pawel, Niedziela Marek, Obara-Moszynska Monika, Rabska-Pietrzak Barbara, Karmelita-Katulska Katarzyna, Stajgis Marek, Ambroziak Urszula, Bednarczuk Tomasz, Wrotkowska Elzbieta, Bukowska-Olech Ewelina, Jamsheer Aleksander, Ruchala Marek, Ziemnicka Katarzy |
Combined in vitro and in silico analyses of FGFR1 variants: genotype-phenotype study in idiopathic hypogonadotropic hypogonadism. Clinical genetics 2020 Jul . Wang Daoqi, Niu Yonghua, Tan Jiahong, Chen Yinwei, Xu Hao, Ling Qing, Gong Jianan, Ling Le, Wang Jiaxin, Wang Tao, Liu Jiho |
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 |
Integrative analysis of genomic and epigenetic regulation of endometrial cancer. Aging 2020 5 12 (10): 9260-9274. Zhong Qihang, Fan Junpeng, Chu Honglei, Pang Mujia, Li Junsheng, Fan Yong, Liu Ping, Wu Congying, Qiao Jie, Li Rong, Hang Ji |
Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism. Journal of medical genetics 2020 5 58 (1): 66-72. Men Meichao, Wang Xinying, Wu Jiayu, Zeng Wang, Jiang Fang, Zheng Ruizhi, Li Jia- |
Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism. Asian journal of andrology 2020 11 23 (3): 288-293. Zhang Jian, Tang Shu-Yan, Zhu Xiao-Bin, Li Peng, Lu Jian-Qi, Cong Jiang-Shan, Wang Ling-Bo, Zhang Feng, Li Zhe |
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies. European journal of endocrinology 2021 9 185 (5): 691-705. Sentchordi-Montané Lucía, Benito-Sanz Sara, Aza-Carmona Miriam, Díaz-González Francisca, Modamio-Høybjør Silvia, de la Torre Carolina, Nevado Julián, Ruiz-Ocaña Pablo, Bezanilla-López Carolina, Prieto Pablo, Bahíllo-Curieses Pilar, Carcavilla Atilano, Mulero-Collantes Inés, Barreda-Bonis Ana C, Cruz-Rojo Jaime, Ramírez-Fernández Joaquín, Bermúdez de la Vega José Antonio, Travessa André M, González de Buitrago Amigo Jesús, Del Pozo Angela, Vallespín Elena, Solís Mario, Goetz Carlos, Campos-Barros Ángel, Santos-Simarro Fernando, González-Casado Isabel, Ros-Pérez Purificación, Parrón-Pajares Manuel, Heath Karen |
Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty. European journal of endocrinology 2021 8 185 (5): 617-627. Saengkaew Tansit, Patel Heena R, Banerjee Kausik, Butler Gary, Dattani Mehul T, McGuigan Michael, Storr Helen L, Willemsen Ruben H, Dunkel Leo, Howard Sasha |
Exploring the Genetic Diversity of Isolated Hypogonadotropic Hypogonadism and Its Phenotypic Spectrum: A Case Series. Journal of reproduction & infertility 2021 3 22 (1): 38-46. Danda Vijay Sheker Reddy, Paidipelly Srinivas Rao, Verepula Madhavi, Lodha Piyush, Thaduri Krishna Reddy, Konda Chaitanya, Ruhi Aps |
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 |
DLG2 Mutations in the Etiology of Pubertal Delay and Idiopathic Hypogonadotropic Hypogonadism. Hormone research in paediatrics 2021 Oct . Turan Ihsan, Demir Korcan, Mengen Eda, Kotan Leman Damla, Gürbüz Fatih, Yüksel Bilgin, Topaloglu Ali Kem |
Cell adhesion molecule L1 like plays a role in the pathogenesis of idiopathic hypogonadotropic hypogonadism. Journal of endocrinological investigation 2021 1 44 (8): 1739-1751. Chen Y, Sun T, Niu Y, Wang D, Liu K, Wang T, Wang S, Xu H, Liu |
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 |
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay. Genetics in medicine : official journal of the American College of Medical Genetics 2022 Sep . Lippincott Margaret F, Xu Wanxue, Smith Abigail A, Miao Xinyu, Lafont Agathe, Shennib Omar, Farley Gordon J, Sabbagh Riwa, Delaney Angela, Stamou Maria, Plummer Lacey, Salnikov Kathryn, Georgopoulos Neoklis A, Mericq Veronica, Quinton Richard, Mau-Them Frederic Tran, Nambot Sophie, Hamad Asma, Brittain Helen, Tooze Rebecca S, Calpena Eduardo, Wilkie Andrew O M, Willems Marjolaine, Crowley William F, Balasubramanian Ravikumar, Lamarche-Vane Nathalie, Davis Erica E, Seminara Stephanie |
[Analysis of PROKR2 gene mutation in patients with hypogonadotropic hypogonadism]. Zhonghua nei ke za zhi 2022 8 61 (8): 933-936. Xie Y D, Zheng R Z, Han H J, Yuan J D, Li Jia |
SLIT2 Rare Sequencing Variants Identified in Idiopathic Hypogonadotropic Hypogonadism. Hormone research in paediatrics 2022 7 95 (4): 384-392. Wu Jiayu, Fang Zhenghuan, Wang Xinying, Zeng Wang, Zhao Yaguang, Jiang Fang, Chen Dan-Na, Zheng Ruizhi, Li Jinchen, Men Meichao, Li Jia- |
Reproductive phenotypes and genotypes in men with IHH. The Journal of clinical endocrinology and metabolism 2022 10 . Dwyer Andrew A, Stamou Maria, Anghel Ella, Hornstein Shira, Chen Danna, Salnikov Kathryn B, McDonald Isabella R, Plummer Lacey, Seminara Stephanie B, 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 |
High Population Frequency of GNRHR p.Q106R in Malta: An Evaluation of Fertility and Hormone Profiles in Heterozygotes. Journal of the Endocrine Society 2024 1 8 (2): bvad172. Clayton John Axiak, Adrian Pleven, Ritienne Attard, Francesca Borg Carbott, Jean-Paul Ebejer, Ian Brincat, Karen Cassar, Mark Gruppetta, Josanne Vassallo, Stephanie Bezzina Wettinger, Rosienne Farrug |
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- Page last updated:Apr 22, 2024
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