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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 - 8 (of 8 Records)

Query Trace: Disease and ARMC5[original query]
ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.
Journal of human hypertension 2015 Oct .
Mulatero P, Schiavi F, Williams T A, Monticone S, Barbon G, Opocher G, Fallo
A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.
BMC medical genetics 2018 3 19 (1): 49.
Liu Qiuli, Tong Dali, Xu Jing, Yang Xingxia, Yi Yuting, Zhang Dianzheng, Wang Luofu, Zhang Jun, Zhang Yao, Li Yaoming, Chang Lianpeng, Chen Rongrong, Guan Yanfang, Yi Xin, Jiang J
The Association of ARMC5 with the Renin-Angiotensin-Aldosterone System, Blood Pressure, and Glycemia in African Americans.
The Journal of clinical endocrinology and metabolism 2020 May .
Joseph Joshua J, Zhou Xiaofei, Zilbermint Mihail, Stratakis Constantine A, Faucz Fabio R, Lodish Maya B, Berthon Annabel, Wilson James G, Hsueh Willa A, Golden Sherita H, Lin Shi
A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report.
BMC endocrine disorders 2022 8 22 (1): 211.
Wang Wei, Wei Fe
Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.
European journal of endocrinology 2022 5 187 (1): 123-134.
Bouys Lucas, Vaczlavik Anna, Jouinot Anne, Vaduva Patricia, Espiard Stéphanie, Assié Guillaume, Libé Rossella, Perlemoine Karine, Ragazzon Bruno, Guignat Laurence, Groussin Lionel, Bricaire Léopoldine, Cavalcante Isadora Pontes, Bonnet-Serrano Fidéline, Lefebvre Hervé, Raffin-Sanson Marie-Laure, Chevalier Nicolas, Touraine Philippe, Jublanc Christel, Vatier Camille, Raverot Gérald, Haissaguerre Magalie, Maione Luigi, Kroiss Matthias, Fassnacht Martin, Christin-Maitre Sophie, Pasmant Eric, Borson-Chazot Françoise, Tabarin Antoine, Vantyghem Marie-Christine, Reincke Martin, Kamenicky Peter, North Marie-Odile, Bertherat Jérô
Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.
European journal of endocrinology 2023 8 189 (2): 242-251.
Morelli Valentina, Elli Francesca Marta, Frigerio Sofia, Vena Walter, Palmieri Serena, Lucca Camilla, Maffini Maria Antonia, Contarino Andrea, Bagnaresi Francesca, Mantovani Giovanna, Arosio Mau
The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.
Frontiers in endocrinology 2024 7 15 1356870.
Julian Sun, Lin Ding, Liping He, Hang Fu, Rui Li, Jing Feng, Jianjun Dong, Lin Li
PDE11A is a phenotype modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: results of a 334 patients' series.
The Journal of clinical endocrinology and metabolism 2025 1 .
Patricia Vaduva, Lucas Bouys, Anne Jouinot, Stephanie Espiard, Albain Chansavang, Annabel Berthon, Mario Néou, Anna Vaczlavik, Florian Violon, Helaine Charchar, Matthias Kroiss, Gerald Raverot, Helene Lasolle, Laurence Guignat, Rossella Libé, Guillaume Assié, Antoine Tabarin, Peter Kamenicky, Eric Pasmant, Maria Fragoso, Constantine Stratakis, Bruno Ragazzon, Jérôme Berther
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