Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Hypogonadism and PROK2[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 |
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 |
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 |
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 |
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 |
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 |
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 |
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series. International journal of molecular sciences 2023 4 24 (8): . Rossella Cannarella, Carmelo Gusmano, Rosita A Condorelli, Andrea Bernini, Jurgen Kaftalli, Paolo Enrico Maltese, Stefano Paolacci, Astrit Dautaj, Giuseppe Marceddu, Matteo Bertelli, Sandro La Vignera, Aldo E Caloge |
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