HuGE Literature Finder
Records 1-10
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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 |
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[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 |
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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 |
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Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia.
The Journal of clinical endocrinology and metabolism 2012 Feb . Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N |
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Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Fertility and sterility 2011 Apr 95 (5): 1613-20.e1-7. Xu Ning, Kim Hyung-Goo, Bhagavath Balasubramanian, Cho Sung-Gyu, Lee Jae Ho, Ha Kyungsoo, Meliciani Irene, Wenzel Wolfgang, Podolsky Robert H, Chorich Lynn P, Stackhouse Kathryn A, Grove Anna M H, Odom Lawrence N, Ozata Metin, Bick David P, Sherins Richard J, Kim Soo-Hyun, Cameron Richard S, Layman Lawrence |
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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 |
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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 |
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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 |
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KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.
Molecular human reproduction 2007 Mar 13 (3): 165-70. Bhagavath Balasubramanian, Xu Ning, Ozata Metin, Rosenfield Robert L, Bick David P, Sherins Richard J, Layman Lawrence |
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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 |
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- Page last updated:Mar 02, 2021
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