Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 7 (of 7 Records) |
Query Trace: Apparent Mineralocorticoid Excess[original query] |
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Association between a variant in the 11 beta-hydroxysteroid dehydrogenase type 2 gene and primary hypertension. Journal of human hypertension 2000 Dec 14 (12): 819-23. Melander O, Orho-Melander M, Bengtsson K, Lindblad U, Råstam L, Groop L, Hulthén U |
Association studies between the HSD11B2 gene (encoding human 11beta-hydroxysteroid dehydrogenase type 2), type 1 diabetes mellitus and diabetic nephropathy. European journal of endocrinology / European Federation of Endocrine Societies 2002 Apr 146 (4): 553-8. Lavery Gareth G, McTernan Claire L, Bain Stephen C, Chowdhury Tahseen A, Hewison Martin, Stewart Paul |
Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations. Hypertension research : official journal of the Japanese Society of Hypertension 2006 Apr 29 (4): 243-52. Kamide Kei, Kokubo Yoshihiro, Hanada Hironori, Nagura Junko, Yang Jin, Takiuchi Shin, Tanaka Chihiro, Banno Mariko, Miwa Yoshikazu, Yoshii Masayoshi, Matayoshi Tetsutaro, Yasuda Hisayo, Horio Takeshi, Okayama Akira, Tomoike Hitonobu, Kawano Yuhei, Miyata Toshiyu |
11ß-Hydroxysteroid dehydrogenase type 2 in hypertension: comparison of phenotype and genotype analysis. Journal of human hypertension 2013 Aug 27 (8): 510-5. Kosicka K, Cymerys M, Majchrzak-Celi?ska A, Chuchracki M, G?ówka F |
Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11?-hydroxysteroid dehydrogenase type 2 deficiency. Proceedings of the National Academy of Sciences of the United States of America 2017 12 114 (52): E11248-E11256. Yau Mabel, Haider Shozeb, Khattab Ahmed, Ling Chen, Mathew Mehr, Zaidi Samir, Bloch Madison, Patel Monica, Ewert Sinead, Abdullah Wafa, Toygar Aysenur, Mudryi Vitalii, Al Badi Maryam, Alzubdi Mouch, Wilson Robert C, Al Azkawi Hanan Said, Ozdemir Hatice Nur, Abu-Amer Wahid, Hertecant Jozef, Razzaghy-Azar Maryam, Funder John W, Al Senani Aisha, Sun Li, Kim Se-Min, Yuen Tony, Zaidi Mone, New Maria |
Clinical, Biochemical, and Genetic Characteristics of "Nonclassic" Apparent Mineralocorticoid Excess Syndrome. The Journal of clinical endocrinology and metabolism 2018 9 104 (2): 595-603. Tapia-Castillo Alejandra, Baudrand Rene, Vaidya Anand, Campino Carmen, Allende Fidel, Valdivia Carolina, Vecchiola Andrea, Lagos Carlos F, Fuentes Cristóbal A, Solari Sandra, Martínez-Aguayo Alejandro, García Hernán, Carvajal Cristian A, Fardella Carlos |
Atypical haemolytic uraemic syndrome in the era of terminal complement inhibition- An observational cohort study. Blood 2023 6 . Vicky Brocklebank, Patrick R Walsh, Kate Smith-Jackson, Thomas M Hallam, Kevin J Marchbank, Valerie Wilson, Theophile Bigirumurame, Tina Dutt, Emma K Montgomery, Michal Malina, Edwin Ks Wong, Sally Johnson, Neil Sheerin, David Kavana |
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- Page last updated:Apr 29, 2024
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