Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 34 Records) |
Query Trace: Hypogonadism and FGFR1[original query] |
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Isolated cryptorchidism: no evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism. Molecular and cellular endocrinology 2011 Jul 341 (1-2): 35-8. Laitinen Eeva-Maria, Tommiska Johanna, Virtanen Helena E, Oehlandt Heidi, Koivu Rosanna, Vaaralahti Kirsi, Toppari Jorma, Raivio Tane |
A genetic basis for functional hypothalamic amenorrhea. The New England journal of medicine 2011 Jan 364 (3): 215-25. Caronia Lisa M, Martin Cecilia, Welt Corrine K, Sykiotis Gerasimos P, Quinton Richard, Thambundit Apisadaporn, Avbelj Magdalena, Dhruvakumar Sadhana, Plummer Lacey, Hughes Virginia A, Seminara Stephanie B, Boepple Paul A, Sidis Yisrael, Crowley William F, Martin Kathryn A, Hall Janet E, Pitteloud Nel |
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients. European journal of endocrinology / European Federation of Endocrine Societies 2013 Dec 169 (6): 805-9. Sarfati Julie, Fouveaut Corinne, Leroy Chrystel, Jeanpierre Marc, Hardelin Jean-Pierre, Dodé Catheri |
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 |
Genetics of congenital hypogonadotropic hypogonadism in Denmark. European journal of medical genetics 2014 Jul 57 (7): 345-8. Tommiska Johanna, Känsäkoski Johanna, Christiansen Peter, Jørgensen Niels, Lawaetz Jacob Gerner, Juul Anders, Raivio Tane |
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients. Experimental biology and medicine (Maywood, N.J.) 2015 Jun . Gu Wei-Jun, Zhang Qian, Wang Ying-Qian, Yang Guo-Qing, Hong Tian-Pei, Zhu Da-Long, Yang Jin-Kui, Ning Guang, Jin Nan, Chen Kang, Zang Li, Wang An-Ping, Du Jin, Wang Xian-Ling, Yang Li-Juan, Ba Jian-Ming, Lv Zhao-Hui, Dou Jing-Tao, Mu Yi-Mi |
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. Endocrine connections 2015 Jun 4 (2): 100-7. Correa Fernanda A, Trarbach Ericka B, Tusset Cintia, Latronico Ana Claudia, Montenegro Luciana R, Carvalho Luciani R, Franca Marcela M, Otto Aline P, Costalonga Everlayny F, Brito Vinicius N, Abreu Ana Paula, Nishi Mirian Y, Jorge Alexander A L, Arnhold Ivo J P, Sidis Yisrael, Pitteloud Nelly, Mendonca Berenice |
Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians. Clinical endocrinology 2015 Dec . Nair Sandhya, Jadhav Swati, Lila Anurag, Jagtap Varsha, Bukan Amol, Pandit Reshma, Ekbote Alka, Dharmalingam Mala, Kumar Prasanna, Kalra Pramila, Gandhi Pramod, Walia Rama, Sankhe Shilpa, Raghavan Vijaya, Shivane Vyankatesh, Menon Padma, Bandgar Tushar, Shah Nali |
[Children with idiopathic hypogonadotropic hypogonadism: clinical data analysis and mutations analysis of KAL1 and FGFR1 gene]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2014 Dec 52 (12): 942-7. Qin Miao, Gong Chunxiu, Qi Zhan, Wu Di, Liu Min, Gu Yi, Cao Bingyan, Li Wenjing, Liang Xuej |
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Molecular and cellular endocrinology 2016 12 437 86-96. Quaynor Samuel D, Bosley Maggie E, Duckworth Christina G, Porter Kelsey R, Kim Soo-Hyun, Kim Hyung-Goo, Chorich Lynn P, Sullivan Megan E, Choi Jeong-Hyeon, Cameron Richard S, Layman Lawrence |
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism. Journal of pediatric endocrinology & metabolism : JPEM 2017 Sep . Aoyama Kohei, Mizuno Haruo, Tanaka Tatsushi, Togawa Takao, Negishi Yutaka, Ohashi Kei, Hori Ikumi, Izawa Masako, Hamajima Takashi, Saitoh Shin |
Next-generation sequencing of patients with congenital anosmia. European journal of human genetics : EJHG 2017 12 25 (12): 1377-1387. Alkelai Anna, Olender Tsviya, Dode Catherine, Shushan Sagit, Tatarskyy Pavel, Furman-Haran Edna, Boyko Valery, Gross-Isseroff Ruth, Halvorsen Matthew, Greenbaum Lior, Milgrom Roni, Yamada Kazuya, Haneishi Ayumi, Blau Ilan, Lancet Dor |
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2018 9 127 (8): 538-544. Kim Ja Hye, Seo Go Hun, Kim Gu-Hwan, Huh Juyoung, Hwang Il Tae, Jang Ja-Hyun, Yoo Han-Wook, Choi Jin- |
Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism. Fertility and sterility 2018 8 110 (3): 486-495.e5. Zhou Chengming, Niu Yonghua, Xu Hao, Li Zongzhe, Wang Tao, Yang Weimin, Wang Shaogang, Wang Dao Wen, Liu Jiho |
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 |
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- |
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 |
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism. Genetics in medicine : official journal of the American College of Medical Genetics 2020 7 22 (11): 1759-1767. Acierno James S, Xu Cheng, Papadakis Georgios E, Niederländer Nicolas J, Rademaker Jesse D, Meylan Jenny, Messina Andrea, Kolesinska Zofia, Quinton Richard, Lang-Muritano Mariarosaria, Bartholdi Deborah, Halperin Irene, De Geyter Christian, Bouligand Jérôme, Bartoloni Lucia, Young Jacques, Santoni Federico A, Pitteloud Nel |
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 |
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 |
A case of Kallmann syndrome associated to a novel missense mutation of the FGFR1 gene. Acta bio-medica : Atenei Parmensis 2020 1 90 (4): 577-579. Scavone Maria, Chiarello Paola, Talarico Valentina, Mascaro Italia, Caglioti Claudia, Galati Maria Concetta, Raiola Giusep |
Comparison of Clinical Characteristics and Spermatogenesis in CHH Patients Caused by PROKR2 and FGFR1 Mutations. Reproductive sciences (Thousand Oaks, Calif.) 2021 5 28 (11): 3219-3227. Li Shuying, Zhao Yaling, Nie Min, Yang Yufan, Hao Ming, Mao Jiangfeng, Wu Xuey |
Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism. Journal of pediatric endocrinology & metabolism : JPEM 2021 4 34 (6): 771-780. Turkyilmaz Ayberk, Cayir Atilla, Yarali Oguzhan, Kurnaz Erdal, Kartal Baykan Emine, Arslan Ates Esra, Demirbilek Husey |
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 |
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 |
Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism. Frontiers in endocrinology 2022 13 846801. Wang Yi, Qin Miao, Fan Lijun, Gong Chunx |
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 |
Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations. Asian journal of andrology 2024 1 . Yu-Fan Yang, Hai-Lu Ma, Xi Wang, Min Nie, Jiang-Feng Mao, Xue-Yan |
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- Page last updated:Apr 16, 2024
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