Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 37 Records) |
| Query Trace: Cushing's Syndrome[original query] |
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| Venous thromboembolism in patients with Cushing's syndrome: need of a careful investigation of the prothrombotic risk profile. Pituitary 2013 Jun 16 (2): 175-81. Koutroumpi S, Daidone V, Sartori M T, Cattini M G, Albiger N M, Occhi G, Ferasin S, Frigo A, Mantero F, Casonato A, Scaroni |
| Somatic mutations of the catalytic subunit of cyclic AMP-dependent protein kinase (PRKACA) gene in Japanese patients with several adrenal adenomas secreting cortisol [Rapid Communication]. Endocrine journal 2014 61 (8): 825-32. Nakajima Yasuyo, Okamura Takashi, Gohko Tamae, Satoh Tetsurou, Hashimoto Koshi, Shibusawa Nobuyuki, Ozawa Atsushi, Ishii Sumiyasu, Tomaru Takuya, Horiguchi Kazuhiko, Okada Shuichi, Takata Daisuke, Rokutanda Nana, Horiguchi Jun, Tsushima Yoshito, Oyama Tetsunari, Takeyoshi Izumi, Yamada Masano |
| Novel somatic mutations in the catalytic subunit of the protein kinase A as a cause of adrenal Cushing's syndrome: a European multicentric study. The Journal of clinical endocrinology and metabolism 2014 Oct 99 (10): E2093-100. Di Dalmazi Guido, Kisker Caroline, Calebiro Davide, Mannelli Massimo, Canu Letizia, Arnaldi Giorgio, Quinkler Marcus, Rayes Nada, Tabarin Antoine, Laure Jullié Marie, Mantero Franco, Rubin Beatrice, Waldmann Jens, Bartsch Detlef K, Pasquali Renato, Lohse Martin, Allolio Bruno, Fassnacht Martin, Beuschlein Felix, Reincke Mart |
| Common genetic variants in the glucocorticoid receptor and the 11ß-hydroxysteroid dehydrogenase type 1 genes influence long-term cognitive impairments in patients with Cushing's syndrome in remission. The Journal of clinical endocrinology and metabolism 2014 Sep 99 (9): E1803-7. Ragnarsson Oskar, Glad Camilla A M, Berglund Peter, Bergthorsdottir Ragnhildur, Eder Derek N, Johannsson Gudmund |
| Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome. Science (New York, N.Y.) 2014 May 344 (6186): 913-7. Cao Yanan, He Minghui, Gao Zhibo, Peng Ying, Li Yanli, Li Lin, Zhou Weiwei, Li Xiangchun, Zhong Xu, Lei Yiming, Su Tingwei, Wang Hang, Jiang Yiran, Yang Lin, Wei Wei, Yang Xu, Jiang Xiuli, Liu Li, He Juan, Ye Junna, Wei Qing, Li Yingrui, Wang Weiqing, Wang Jun, Ning Gua |
| 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 |
| Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. The New England journal of medicine 2014 Mar 370 (11): 1019-28. Beuschlein Felix, Fassnacht Martin, Assié Guillaume, Calebiro Davide, Stratakis Constantine A, Osswald Andrea, Ronchi Cristina L, Wieland Thomas, Sbiera Silviu, Faucz Fabio R, Schaak Katrin, Schmittfull Anett, Schwarzmayr Thomas, Barreau Olivia, Vezzosi Delphine, Rizk-Rabin Marthe, Zabel Ulrike, Szarek Eva, Salpea Paraskevi, Forlino Antonella, Vetro Annalisa, Zuffardi Orsetta, Kisker Caroline, Diener Susanne, Meitinger Thomas, Lohse Martin J, Reincke Martin, Bertherat Jérome, Strom Tim M, Allolio Bru |
| Body composition and bone mineral density in women with Cushing's syndrome in remission and the association with common genetic variants influencing glucocorticoid sensitivity. European journal of endocrinology / European Federation of Endocrine Societies 2015 Jan 172 (1): 1-10. Ragnarsson Oskar, Glad Camilla A M, Bergthorsdottir Ragnhildur, Almqvist Erik G, Ekerstad Eva, Widell Håkan, Wängberg Bo, Johannsson Gudmund |
| Association of glucocorticoid receptor haplotypes with body composition and metabolic parameters in HIV-infected patients from the FRAM study. Pharmacogenetics and genomics 2014 Mar 24 (3): 156-61. Manenschijn Laura, Scherzer Rebecca, Koper Jan W, Danoff Ann, van Rossum Elisabeth F C, Grunfeld Ca |
| PRKACA mutations in cortisol-producing adenomas and adrenal hyperplasia: a single-center study of 60 cases. European journal of endocrinology / European Federation of Endocrine Societies 2015 Mar . Thiel Anne, Reis Anna-Carinna, Haase Matthias, Goh Gerald, Schott Matthias, Willenberg Holger S, Scholl Ute Ingr |
| Reduced DNA methylation of FKBP5 in Cushing's syndrome. Endocrine 2016 Sep . Resmini Eugenia, Santos Alicia, Aulinas Anna, Webb Susan M, Vives-Gilabert Yolanda, Cox Olivia, Wand Gary, Lee Richard |
| Glucocorticoid receptor haplotype and metabolic syndrome: the Lifelines cohort study. European journal of endocrinology 2016 Dec 175 (6): 645-651. Wester Vincent L, Koper Jan W, van den Akker Erica L T, Franco Oscar H, Stolk Ronald P, van Rossum Elisabeth F |
| Clinical characteristics of PRKACA mutations in Chinese patients with adrenal lesions: a single-centre study. Clinical endocrinology 2016 Jun . Li Xintao, Wang Baojun, Tang Lu, Lang Bin, Zhang Yu, Zhang Fan, Chen Luyao, Ouyang Jinzhi, Zhang |
| Glucocorticoid receptor polymorphisms modulate cardiometabolic risk factors in patients in long-term remission of Cushing's syndrome. Endocrine 2016 Jul 53 (1): 63-70. Roerink Sean H P P, Wagenmakers M A E M, Smit J W A, van Rossum E F C, Netea-Maier R T, Plantinga T S, Hermus A R M |
| A stop-codon of the phosphodiesterase 11A gene is associated with elevated blood pressure and measures of obesity. Journal of hypertension 2016 Mar 34 (3): 445-51. Ohlsson Therese, Lindgren Arne, Engström Gunnar, Jern Christina, Melander Ol |
| A polymorphism in the CYP17A1 gene influences the therapeutic response to steroidogenesis inhibitors in Cushing's syndrome. Clinical endocrinology 2017 Jun . Valassi Elena, Aulinas Anna, Glad Camilla Am, Johannsson Gudmundur, Ragnarsson Oskar, Webb Susan |
| 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 |
| Glucocorticoid Receptor Polymorphisms Influence Muscle Strength in Cushing's Syndrome. The Journal of clinical endocrinology and metabolism 2019 Oct . Müller Lisa Marie, Kienitz Tina, Deutschbein Timo, Riester Anna, Hahner Stefanie, Burger-Stritt Stephanie, Berr Christina M, Oßwald Andrea, Braun Leah, Rubinstein German, Reincke Martin, Quinkler Marc |
| A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance. Molecular diagnosis & therapy 2020 7 24 (4): 473-485. Paragliola Rosa Maria, Costella Alessandra, Corsello Andrea, Urbani Andrea, Concolino Pao |
| 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 |
| Intratumoral heterogeneity of the tumor cells based on in situ cortisol excess in cortisol-producing adenomas; ?An association among morphometry, genotype and cellular senescence?. The Journal of steroid biochemistry and molecular biology 2020 10 204 105764. Gao Xin, Yamazaki Yuto, Tezuka Yuta, Pieroni Jacopo, Ishii Kae, Atsumi Nanako, Ono Yoshikiyo, Omata Kei, Morimoto Ryo, Nakamura Yasuhiro, Satoh Fumitoshi, Sasano Hirono |
| COL3A1, COL6A3, and SERPINH1 Are Related to Glucocorticoid-Induced Osteoporosis Occurrence According to Integrated Bioinformatics Analysis. Medical science monitor : international medical journal of experimental and clinical research 2020 10 26 e925474. Li Liuxun, Yang Meiling, Jin Anm |
| A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease. BMC endocrine disorders 2020 1 20 (1): 18. De Sousa Sunita M C, Manavis Jim, Feng Jinghua, Wang Paul, Schreiber Andreas W, Scott Hamish S, Torpy David |
| Secondary hypertriglyceridemia. Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2021 5 33 Suppl 2 29-36. Viñals Clara, Zambón Daniel, Yago Gema, Domenech Mònica, Ortega Emil |
| Plasma Cortisol and Risk of Atrial Fibrillation: A Mendelian Randomization Study. The Journal of clinical endocrinology and metabolism 2021 4 106 (7): e2521-e2526. Larsson Susanna C, Lee Wei-Hsuan, Burgess Stephen, Allara Eli |
| Association between Neutrophilic Granulocyte Percentage and Diabetes Mellitus in Cushing's Syndrome Patients: A Cross-Sectional Study. International journal of endocrinology 2021 12 2021 9536730. Wang Baomin, Yang Yumei, Yuan Haoyue, Li Xiao |
| Impact of Cortisol on Reduction in Muscle Strength and Mass: A Mendelian Randomization Study. The Journal of clinical endocrinology and metabolism 2021 12 107 (4): e1477-e1487. Katsuhara Shunsuke, Yokomoto-Umakoshi Maki, Umakoshi Hironobu, Matsuda Yayoi, Iwahashi Norifusa, Kaneko Hiroki, Ogata Masatoshi, Fukumoto Tazuru, Terada Eriko, Sakamoto Ryuichi, Ogawa Yoshihi |
| 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 |
| Cardiovascular risk assessments in patients with cortisol-producing adenoma: impact of clinical features and genetic characteristics. Heart and vessels 2023 9 . Daisuke Watanabe, Satoshi Morimoto, Noriko Morishima, Atsuhiro Ichiha |
| Glucocorticoid receptor polymorphism BclI with increased glucocorticoid sensitivity has a positive influence on Quality of Life in Endogenous Cushing's syndrome in remission. European journal of endocrinology 2023 3 . Feldkamp Lara, Müller Lisa, Deutschbein Timo, Detomas Mario, Hahner Stefanie, Strasburger Christian J, Künzel Heike, Oßwald Andrea, Braun Leah, Rubinstein German, Reincke Martin, Quinkler Marcus, Kienitz Ti |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 18, 2023
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