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Select item 105220721.

ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules

Barbara Brito da Conceição, Isadora Pontes Cavalcante, Jean Lucas Kremer, Thais Barabba Auricino, Eduarda Corrêa Bento, Maria Claudia Nogueira Zerbini, Maria Candida Barisson Villares Fragoso, Claudimara Ferini Pacicco Lotfi

Arch Endocrinol Metab. 2020 Jul-Aug; 64(4): 390–401. Published online 2020 Mar 30. doi: 10.20945/2359-3997000000236

PMCID:: PMC10522072

Article PDF–10M

Select item 100940832.

New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)

Mara Giacché, Alessandra Panarotto, Luigi Mori, Pietro Luigi Poliani, Roberto Lanzi, Marco Schiavo Lena, Maurizio Castellano

Mol Genet Genomic Med. 2023 Apr; 11(4): e2126. Published online 2023 Feb 2. doi: 10.1002/mgg3.2126

PMCID:: PMC10094083

Article PDF–935K

Select item 100807893.

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations

Peng Tang, Jun Zhang, Song Peng, Xuzhi Yan, Yapeng Wang, Shuo Wang, Yao Zhang, Gaolei Liu, Jing Xu, Yiqiang Huang, Dianzheng Zhang, Qiuli Liu, Jun Jiang, Weihua Lan

BMC Endocr Disord. 2023; 23: 77. Published online 2023 Apr 7. doi: 10.1186/s12902-023-01324-3

PMCID:: PMC10080789

Article PDF–1.1M

Select item 93967814.

A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report

Wei Wang, Feng Wei

BMC Endocr Disord. 2022; 22: 211. Published online 2022 Aug 22. doi: 10.1186/s12902-022-01128-x

PMCID:: PMC9396781

Article PDF–1.5M

Select item 89891535.

An Overview of the Heterogeneous Causes of Cushing Syndrome Resulting From Primary Macronodular Adrenal Hyperplasia (PMAH)

Helaine Laiz Silva Charchar, Maria Candida Barisson Villares Fragoso

J Endocr Soc. 2022 May 1; 6(5): bvac041. Published online 2022 Mar 17. doi: 10.1210/jendso/bvac041

PMCID:: PMC8989153

Article PDF–7.1M

Select item 87290206.

MicroRNA expression signature and target prediction in familial and sporadic primary macronodular adrenal hyperplasia (PMAH)

Xiao-Gang Tan, Jie Zhu, Liang Cui

BMC Endocr Disord. 2022; 22: 11. Published online 2022 Jan 5. doi: 10.1186/s12902-021-00910-7

PMCID:: PMC8729020

Article PDF–1.4M

Select item 81083247.

A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia

Wen-Tao He, Xiong Wang, Wen Song, Xiao-Dong Song, Yan-Jun Lu, Yan-Kai Lv, Ting He, Xue-Feng Yu, Shu-Hong Hu

BMC Med Genomics. 2021; 14: 126. Published online 2021 May 10. doi: 10.1186/s12920-021-00896-0

PMCID:: PMC8108324

Article PDF–1.4M

Select item 79946208.

Molecular Genetic and Genomic Alterations in Cushing’s Syndrome and Primary Aldosteronism

Crystal D. C. Kamilaris, Constantine A. Stratakis, Fady Hannah-Shmouni

Front Endocrinol (Lausanne) 2021; 12: 632543. Published online 2021 Mar 12. doi: 10.3389/fendo.2021.632543

PMCID:: PMC7994620

Article PDF–1.1M

Select item 74275059.

Adrenocortical tumorigenesis: lessons from genetics

Crystal D. C. Kamilaris, Fady Hannah-Shmouni, Constantine A. Stratakis

Best Pract Res Clin Endocrinol Metab. Author manuscript; available in PMC 2021 May 23.

Published in final edited form as: Best Pract Res Clin Endocrinol Metab. 2020 May; 34(3): 101428. Published online 2020 May 23. doi: 10.1016/j.beem.2020.101428

PMCID:: PMC7427505

Article PDF–481K

Select item 737534010.

A New Insight into the Surgical Treatment of Primary Macronodular Adrenal Hyperplasia

Fabio Yoshiaki Tanno, Victor Srougi, Madson Q Almeida, Fernando Ide Yamauchi, Fernando Morbeck Almeida Coelho, Mirian Yumie Nishi, Maria Claudia Nogueira Zerbini, Iracy Silvia Correa Soares, Maria Adelaide Albergaria Pereira, Helaine Laiz Silva Charchar, Amanda Meneses Ferreira Lacombe, Vania Balderrama Brondani, Miguel Srougi, Willian Carlos Nahas, Berenice B Mendonca, José Luis Chambô, Maria Candida Barisson Villares Fragoso

J Endocr Soc. 2020 Aug 1; 4(8): bvaa083. Published online 2020 Jul 22. doi: 10.1210/jendso/bvaa083

PMCID:: PMC7375340

Article PDF–521K

Select item 701910011.

Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules

Beatriz Marinho de Paula Mariani, Mirian Yumie Nishi, Ingrid Quevedo Wanichi, Vania Balderrama Brondani, Amanda Meneses Ferreira Lacombe, Helaine Charchar, Maria Adelaide Albergaria Pereira, Victor Srougi, Fabio Yoshiaki Tanno, Filippo Ceccato, Daniela Regazzo, Mattia Barbot, Gianluca Occhi, Nora Maria Elvira Albiger, Marcelo Vieira-Corrêa, Claudio Elias Kater, Carla Scaroni, José Luis Chambô, Maria Claudia Nogueira Zerbini, Berenice B. Mendonca, Madson Q. Almeida, Maria Candida Barisson Villares Fragoso

Front Endocrinol (Lausanne) 2020; 11: 36. Published online 2020 Feb 7. doi: 10.3389/fendo.2020.00036

PMCID:: PMC7019100

Article PDF–776K

Select item 674984312.

ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers

Chika Kyo, Takeshi Usui, Rieko Kosugi, Mizuki Torii, Takako Yonemoto, Tatsuo Ogawa, Masato Kotani, Naohisa Tamura, Yutaro Yamamoto, Takuyuki Katabami, Isao Kurihara, Kohei Saito, Naotetsu Kanamoto, Hidenori Fukuoka, Norio Wada, Hiroyuki Murabe, Tatsuhide Inoue

J Endocr Soc. 2019 Oct 1; 3(10): 1837–1846. Published online 2019 Jul 23. doi: 10.1210/js.2019-00210

PMCID:: PMC6749843

Article PDF–538K

Select item 661547513.

High expression of adrenal P450 aromatase (CYP19A1) in association with ARMC5-primary bilateral macronodular adrenocortical hyperplasia

Annabel Berthon, Fady Hannah-Shmouni, Andrea Gutierrez Maria, Fabio R. Faucz, Constantine A. Stratakis

J Steroid Biochem Mol Biol. Author manuscript; available in PMC 2020 Jul 1.

Published in final edited form as: J Steroid Biochem Mol Biol. 2019 Jul; 191: 105316. Published online 2019 Apr 20. doi: 10.1016/j.jsbmb.2019.02.011

PMCID:: PMC6615475

Article PDF–876K

Select item 634711314.

Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) — case reports with literature review

Katarzyna Pasternak-Pietrzak, Constantine A. Stratakis, Elżbieta Moszczyńska, Agnieszka Lecka-Ambroziak, Michał Staniszewski, Urszula Wątrobińska, Charalampos Lyssikatos, Monika Prokop-Piotrkowska, Wiesława Grajkowska, Maciej Pronicki, Mieczysław Szalecki

Endokrynol Pol. Author manuscript; available in PMC 2019 Sep 27.

Published in final edited form as: Endokrynol Pol. 2018; 69(6): 675–681. Published online 2018 Sep 27. doi: 10.5603/EP.a2018.0063

PMCID:: PMC6347113

Article PDF–2.2M

Select item 634312715.

Successful Treatment of Estrogen Excess in Primary Bilateral Macronodular Adrenocortical Hyperplasia with Leuprolide Acetate

Fady Hannah-Shmouni, Andreas G. Moraitis, Vladimir Valera Romero, Fabio R. Faucz, Spyridon A. Mastroyannis, Annabel Berthon, Richard A. Failor, Maria Merino, Andrew P. Demidowich, Constantine A. Stratakis

Horm Metab Res. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Horm Metab Res. 2018 Feb; 50(2): 124–132. Published online 2017 Nov 28. doi: 10.1055/s-0043-122074

PMCID:: PMC6343127

Article PDF–2.5M

Select item 607483816.

Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function

A. Berthon, F.R. Faucz, S. Espiard, L. Drougat, J. Bertherat, C.A. Stratakis

Hum Mol Genet. 2017 Sep 15; 26(18): 3495–3507. Published online 2017 Jun 20. doi: 10.1093/hmg/ddx235

PMCID:: PMC6074838

Article PDF–2.2M

Select item 587093917.

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report

Qiuli Liu, Dali Tong, Jing Xu, Xingxia Yang, Yuting Yi, Dianzheng Zhang, Luofu Wang, Jun Zhang, Yao Zhang, Yaoming Li, Lianpeng Chang, Rongrong Chen, Yanfang Guan, Xin Yi, Jun Jiang

BMC Med Genet. 2018; 19: 49. Published online 2018 Mar 27. doi: 10.1186/s12881-018-0564-2

PMCID:: PMC5870939

Article PDF–2.1M

Select item 577301718.

Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report

Ping Jin, Muhammad Usman Janjua, Qin Zhang, Chang-sheng Dong, Youbo Yang, Zhao-hui Mo

J Med Case Rep. 2018; 12: 13. Published online 2018 Jan 18. doi: 10.1186/s13256-017-1529-3

PMCID:: PMC5773017

Article PDF–1.1M

Select item 539351419.

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences

Stéphanie Espiard, Ludivine Drougat, Rossella Libé, Guillaume Assié, Karine Perlemoine, Laurence Guignat, Gaelle Barrande, Françoise Brucker-Davis, Françoise Doullay, Stephanie Lopez, Emmanuel Sonnet, Florence Torremocha, Denis Pinsard, Nathalie Chabbert-Buffet, Marie-Laure Raffin-Sanson, Lionel Groussin, Françoise Borson-Chazot, Joël Coste, Xavier Bertagna, Constantine A. Stratakis, Felix Beuschlein, Bruno Ragazzon, Jérôme Bertherat

J Clin Endocrinol Metab. 2015 Jun; 100(6): E926–E935. Published online 2015 Apr 8. doi: 10.1210/jc.2014-4204

PMCID:: PMC5393514

Article

Select item 523596920.

Analysis of ARMC5 expression in human tissues

Annabel Berthon, Fabio Faucz, Jerome Bertherat, Constantine Stratakis

Mol Cell Endocrinol. Author manuscript; available in PMC 2018 Feb 5.

Published in final edited form as: Mol Cell Endocrinol. 2017 Feb 5; 441: 140–145. Published online 2016 Aug 24. doi: 10.1016/j.mce.2016.08.018

PMCID:: PMC5235969

Article PDF–1.4M

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