HuGE Literature Finder
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| 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 |
| Correlation between Pituitary Stalk Interruption Syndrome and Prokineticin Receptor 2 and Prokineticin 2 Mutations. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2016 Feb 38 (1): 37-41. Han Bai-Yu, Li Le-le, Wang Cheng-Zhi, Guo Qing-Hua, Lv Zhao-Hui, Mu Yi-Ming, Dou Jing-T |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. The Journal of clinical endocrinology and metabolism 2010 Feb 95 (2): 659-69. Sarfati Julie, Guiochon-Mantel Anne, Rondard Philippe, Arnulf Isabelle, Garcia-Piñero Alfons, Wolczynski Slawomir, Brailly-Tabard Sylvie, Bidet Maud, Ramos-Arroyo Maria, Mathieu Michèle, Lienhardt-Roussie Anne, Morgan Graeme, Turki Zinet, Bremont Catherine, Lespinasse James, Du Boullay Hélène, Chabbert-Buffet Nathalie, Jacquemont Sébastien, Reach Gérard, De Talence Nicole, Tonella Paolo, Conrad Bernard, Despert Francois, Delobel Bruno, Brue Thierry, Bouvattier Claire, Cabrol Sylvie, Pugeat Michel, Murat Arnaud, Bouchard Philippe, Hardelin Jean-Pierre, Dodé Catherine, Young Jacqu |
| 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 |
| 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 |
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