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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Disease and PROKR2[original query]
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
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
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
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
The Journal of clinical endocrinology and metabolism 2021 Mar .
Vishnopolska Sebastian Alexis, Mercogliano Maria Florencia, Camilletti Maria Andrea, Mortensen Amanda Helen, Braslavsky Debora, Keselman Ana, Bergadá Ignacio, Olivieri Federico, Miranda Lucas, Marino Roxana, Ramírez Pablo, Pérez Garrido Natalia, Patiño Mejia Helen, Ciaccio Marta, Di Palma Maria Isabel, Belgorosky Alicia, Martí Marcelo Adrian, Kitzman Jacob Otto, Camper Sally Ann, Pérez-Millán Maria In
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
Clinical and genetic evaluation of children with short stature of unknown origin.
BMC medical genomics 2023 8 16 (1): 194.
Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B
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