Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Hyperplasia and ARMC5[original query] |
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Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. The Journal of clinical endocrinology and metabolism 2014 Jun 99 (6): E1113-9. Faucz Fabio R, Zilbermint Mihail, Lodish Maya B, Szarek Eva, Trivellin Giampaolo, Sinaii Ninet, Berthon Annabel, Libé Rossella, Assié Guillaume, Espiard Stéphanie, Drougat Ludivine, Ragazzon Bruno, Bertherat Jerome, Stratakis Constantine |
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 multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype. Endocrine 2016 Apr . Albiger N M, Regazzo D, Rubin B, Ferrara A M, Rizzati S, Taschin E, Ceccato F, Arnaldi G, Pecori Giraldi F, Stigliano A, Cerquetti L, Grimaldi F, De Menis E, Boscaro M, Iacobone M, Occhi G, Scaroni |
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 |
Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia. Endocrine connections 2018 10 7 (11): 1136-41. Liu Qiuli, Wang Lin-Ang, Su Jian, Tong Dali, Lan Weihua, Wang Luofu, Liu Gaolei, Zhang Jun, Zhang Victor Wei, Zhang Dianzheng, Chen Rongrong, Zhu Qingyi, Jiang J |
ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia. PloS one 2018 1 13 (1): e0191602. Yu Liping, Zhang Junqing, Guo Xiaohui, Chen Xiaoyu, He Zhisong, He Q |
ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers. Journal of the Endocrine Society 2019 9 3 (10): 1837-1846. Kyo Chika, Usui Takeshi, Kosugi Rieko, Torii Mizuki, Yonemoto Takako, Ogawa Tatsuo, Kotani Masato, Tamura Naohisa, Yamamoto Yutaro, Katabami Takuyuki, Kurihara Isao, Saito Kohei, Kanamoto Naotetsu, Fukuoka Hidenori, Wada Norio, Murabe Hiroyuki, Inoue Tatsuhi |
ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1). The Journal of clinical endocrinology and metabolism 2020 9 105 (12): e4531-42. Damjanovic Svetozar S, Antic Jadranka A, Elezovic-Kovacevic Valentina I, Dundjerovic Dusko M, Milicevic Ivana T, Beleslin-Cokic Bojana B, Ilic Bojana B, Rodic Gordana S, Berthon Annabel, Maria Andrea Gutierrez, Faucz Fabio R, Stratakis Constantine |
ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report. Case reports in endocrinology 2020 9 2020 8848151. Ferreira M J, Pedro J, Salazar D, Costa C, Aragão Rodrigues J, Costa M M, Grangeia A, Castedo J L, Carvalho |
Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules. Frontiers in endocrinology 2020 3 11 36. Mariani Beatriz Marinho de Paula, Nishi Mirian Yumie, Wanichi Ingrid Quevedo, Brondani Vania Balderrama, Lacombe Amanda Meneses Ferreira, Charchar Helaine, Pereira Maria Adelaide Albergaria, Srougi Victor, Tanno Fabio Yoshiaki, Ceccato Filippo, Regazzo Daniela, Barbot Mattia, Occhi Gianluca, Albiger Nora Maria Elvira, Vieira-Corrêa Marcelo, Kater Claudio Elias, Scaroni Carla, Chambô José Luis, Zerbini Maria Claudia Nogueira, Mendonca Berenice B, Almeida Madson Q, Fragoso Maria Candida Barisson Villar |
KDM1A inactivation causes hereditary food-dependent Cushing syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 2021 12 24 (2): 374-383. Vaczlavik Anna, Bouys Lucas, Violon Florian, Giannone Gaetan, Jouinot Anne, Armignacco Roberta, Cavalcante Isadora P, Berthon Annabel, Letouzé Eric, Vaduva Patricia, Barat Maxime, Bonnet Fidéline, Perlemoine Karine, Ribes Christopher, Sibony Mathilde, North Marie-Odile, Espiard Stéphanie, Emy Philippe, Haissaguerre Magalie, Tauveron Igor, Guignat Laurence, Groussin Lionel, Dousset Bertrand, Reincke Martin, Fragoso Maria C, Stratakis Constantine A, Pasmant Eric, Libé Rossella, Assié Guillaume, Ragazzon Bruno, Bertherat Jérô |
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 |
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