Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: Hypogonadism and PROKR2[original query] |
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Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. The Journal of clinical endocrinology and metabolism 2008 Oct 93 (10): 4113-8. Abreu Ana Paula, Trarbach Ericka Barbosa, de Castro Margaret, Frade Costa Elaine Maria, Versiani Beatriz, Matias Baptista Maria Tereza, Garmes Heraldo Mendes, Mendonca Berenice Bilharinho, Latronico Ana Claud |
Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. Journal of andrology 0 30 (1): 41-5. Canto P, Munguía P, Söderlund D, Castro J J, Méndez J |
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clinical genetics 2009 Jan 75 (1): 65-71. Jongmans M C J, van Ravenswaaij-Arts C M A, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten H L, van der Donk K, Seminara S, Bergman J E H, Brunner H G, Crowley W F, Hoefsloot L |
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 |
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. The Journal of clinical endocrinology and metabolism 2013 Mar 98 (3): E547-57. McCabe Mark J, Gaston-Massuet Carles, Gregory Louise C, Alatzoglou Kyriaki S, Tziaferi Vaitsa, Sbai Oualid, Rondard Philippe, Masumoto Koh-hei, Nagano Mamoru, Shigeyoshi Yasufumi, Pfeifer Marija, Hulse Tony, Buchanan Charles R, Pitteloud Nelly, Martinez-Barbera Juan-Pedro, Dattani Mehul |
Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways. The Journal of clinical endocrinology and metabolism 2014 Mar 99 (3): E458-63. Libri Domenico Vladimiro, Kleinau Gunnar, Vezzoli Valeria, Busnelli Marta, Guizzardi Fabiana, Sinisi Antonio Agostino, Pincelli Angela Ida, Mancini Antonio, Russo Gianni, Beck-Peccoz Paolo, Loche Sandro, Crivellaro Claudio, Maghnie Mohamad, Krausz Csilla, Persani Luca, Bonomi Marco, |
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 |
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 |
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- |
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 |
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 |
Correlations Among Genotype and Outcome in Chinese Male Patients With Congenital Hypogonadotropic Hypogonadism Under HCG Treatment. The journal of sexual medicine 2020 3 17 (4): 645-657. Chen Yinwei, Sun Taotao, Niu Yonghua, Wang Daoqi, Xiong Zhiyong, Li Chuanzhou, Liu Kang, Qiu Youlan, Sun Yi, Gong Jianan, Wang Tao, Wang Shaogang, Xu Hao, Liu Jiho |
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 |
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 |
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 |
Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty. Italian journal of pediatrics 2021 1 47 (1): 5. Aiello Francesca, Cirillo Grazia, Cassio Alessandra, Di Mase Raffaella, Tornese Gianluca, Umano Giuseppina R, Miraglia Del Giudice Emanuele, Grandone An |
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 |
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort. Frontiers in genetics 2022 9 13 900574. Zidoune Housna, Ladjouze Asmahane, Chellat-Rezgoune Djalila, Boukri Asma, Dib Scheher Aman, Nouri Nassim, Tebibel Meryem, Sifi Karima, Abadi Noureddine, Satta Dalila, Benelmadani Yasmina, Bignon-Topalovic Joelle, El-Zaiat-Munsch Maeva, Bashamboo Anu, McElreavey K |
[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 |
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 |
[Analysis of a patient with Kallmann syndrome and a 45,X/46,XY karyotype]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 11 39 (11): 1275-1278. Ma Fuhui, Wang Xinling, Reziwanguli Wusiman, Chen Yuan, Guo Yanyi |
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency. Journal of clinical research in pediatric endocrinology 2023 6 . Asl? Derya Kardelen, Adam Najafli, Firdevs Ba?, Birsen Karaman, Güven Toksoy, ?ükran Poyrazo?lu, ?ahin Avc?, Umut Altuno?lu, Zehra Yava? Abal?, Ay?e P?nar Öztürk, Esin Karak?l?ç Özturan, Seher Ba?aran, Feyza Darendeliler, Z Oya Uygun |
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