Cargando…

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data collection and ARMC5 sequencing for three PBMAH families and 23 sporadic PBMAH patients. ARMC5 pathogen...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yu, Liping, Zhang, Junqing, Guo, Xiaohui, Chen, Xiaoyu, He, Zhisong, He, Qun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784932/ https://www.ncbi.nlm.nih.gov/pubmed/29370219 http://dx.doi.org/10.1371/journal.pone.0191602

Ejemplares similares

ARMC5 mutation in a Portuguese family with primary bilateral macronodular adrenal hyperplasia (PBMAH)
por: Rego, Teresa, et al.
Publicado: (2017)

Primary Macronodular Adrenal Hyperplasia Associated With Autosomal Dominant ARMC5 Mutation
por: Kerut, Sarah Elizabeth, et al.
Publicado: (2021)

ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report
por: Ferreira, M. J., et al.
Publicado: (2020)

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations
por: Tang, Peng, et al.
Publicado: (2023)

A novel nonsense mutation in ARMC5 causes primary bilateral macronodular adrenocortical hyperplasia
por: He, Wen-Tao, et al.
Publicado: (2021)

Case Report: A Novel ARMC5 Germline Mutation in a Patient with Primary Bilateral Macronodular Adrenal Hyperplasia and Hypogammaglobulinemia
por: Vena, Walter, et al.
Publicado: (2022)

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report
por: Liu, Qiuli, et al.
Publicado: (2018)

Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report
por: Jin, Ping, et al.
Publicado: (2018)

ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers
por: Kyo, Chika, et al.
Publicado: (2019)

A novel pathogenic variant of ARMC5 in a patient with primary bilateral macronodular adrenal hyperplasia: a case report
por: Wang, Wei, et al.
Publicado: (2022)

A Novel ARMC5 Germline Variant in Primary Macronodular Adrenal Hyperplasia Using Whole-Exome Sequencing
por: Eghbali, Maryam, et al.
Publicado: (2022)

SUN-382 Heterogeneous Clinical Presentation In Familial Cases Of Primary Macronodular Adrenal Hyperplasia (PMAH): The Influence Of Somatic Event Of ARMC5.
por: Brondani, Vânia, et al.
Publicado: (2019)

Unlikely Coexistence of Sporadic Pheochromocytoma and Bilateral Macronodular Adrenal Hyperplasia: A Challenge to Manage
por: Dinh, Kathryn, et al.
Publicado: (2021)

SAT-193 Clinical Case of ARMC5 Tumor Syndrome: A Rare Case of Cushing’s Syndrome from Primary Bilateral Macronodular Adrenal Hyperplasia Caused by ARMC5 Mutation with Concomitant Presence of Meningiomas and Primary Hyperparathyroidism
por: Parikh, Sahil, et al.
Publicado: (2020)

OR12-3 Identification of Predictive Criteria for the Primary Bilateral Macronodular Adrenal Hyperplasia Gene ARMC5: A European Series of 352 Unselected Patients.
por: Assié, Guillaume, et al.
Publicado: (2022)

MON-209 Identification of a New Heterozygous Germline ARMC5 Deletion in a Familial Case of Primary Bilateral Macronodular Adrenal Hyperplasia Co-Secreting Cortisol and Aldosterone
por: Salle, Stefanie Parisien-La, et al.
Publicado: (2020)

OR04-3 Genetic Alterations of ARMC5 and KDM1A Are Associated With Different Expression Profiles of Illegitimate Receptors in Primary Bilateral Macronodular Adrenal Hyperplasia
por: Armignacco, Roberta, et al.
Publicado: (2022)

MicroRNA expression signature and target prediction in familial and sporadic primary macronodular adrenal hyperplasia (PMAH)
por: Tan, Xiao-Gang, et al.
Publicado: (2022)

The effect of unilateral adrenalectomy on patients with primary bilateral macronodular adrenal hyperplasia
por: Yu, Zhongwei, et al.
Publicado: (2023)

Inhibin A as a tumor marker for primary bilateral macronodular adrenal hyperplasia
por: Wurth, Rachel, et al.
Publicado: (2020)

Mifepristone Treatment in Four Cases of Primary Bilateral Macronodular Adrenal Hyperplasia (BMAH)
por: Cohan, Pejman, et al.
Publicado: (2019)

New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH)
por: Giacché, Mara, et al.
Publicado: (2023)

Coexistence of Myelolipoma and Primary Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome
por: Larose, Stéphanie, et al.
Publicado: (2019)

Cell-To-Cell Communication in Bilateral Macronodular Adrenal Hyperplasia Causing Hypercortisolism
por: Lefebvre, Hervé, et al.
Publicado: (2015)

Resolution of manic symptoms following unilateral adrenalectomy in patient with primary bilateral macronodular adrenal hyperplasia
por: Rosenfeld, Benjamin H., et al.
Publicado: (2022)

ODP018 A Case of Cushing's Syndrome due to Primary Bilateral Macronodular Adrenal Hyperplasia
por: Veluru, Manasa, et al.
Publicado: (2022)

FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome
por: Ortiz, Yineli, et al.
Publicado: (2023)

Long-term low-dose ketoconazole treatment in bilateral macronodular adrenal hyperplasia
por: Comte-Perret, Sophie, et al.
Publicado: (2014)

Maffucci Syndrome Associated With Adrenocorticotropic Hormone–Independent Bilateral Macronodular Adrenal Hyperplasia
por: Tricò, Domenico, et al.
Publicado: (2017)

A Case of Severe Psychosis Due to Cushing's Syndrome Secondary to Primary Bilateral Macronodular Adrenal Hyperplasia
por: Shah, Kajal, et al.
Publicado: (2019)

SUN-354 Quality of Life in Patients with Primary Macronodular Adrenal Hyperplasia
por: Charchar, Helaine, et al.
Publicado: (2019)

A New Insight into the Surgical Treatment of Primary Macronodular Adrenal Hyperplasia
por: Yoshiaki Tanno, Fabio, et al.
Publicado: (2020)

SUN-390 A Rare Case of Bilateral Macronodular Adrenal Hyperplasia Discovered Incidentally
por: Penaherrera, Carlos, et al.
Publicado: (2019)

Intermittent Blurry Vision: An Unexpected Presentation of Cushing’s Syndrome Due to Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH)
por: Fernandez, Christopher, et al.
Publicado: (2022)

AB191. Laparoscopic subcutaneous transposition of a pedicled adrenal for ACTH-independent bilateral macronodular adrenal hyperplasia
por: Zhang, Weixing, et al.
Publicado: (2016)

Macronodular adrenal hyperplasia masquerading as an upper pole renal mass
por: Owens-Walton, Jeunice, et al.
Publicado: (2021)

Analysis of clinical and pathological features of primary bilateral macronodular adrenocortical hyperplasia compared with unilateral cortisol-secreting adrenal adenoma
por: Zhang, Qian, et al.
Publicado: (2020)

The role of adrenal venous sampling (AVS) in primary bilateral macronodular adrenocortical hyperplasia (PBMAH): a study of 16 patients
por: Rubinstein, German, et al.
Publicado: (2022)

Retention of aberrant cortisol secretion in a patient with bilateral macronodular adrenal hyperplasia after unilateral adrenalectomy
por: Tanaka, Sho, et al.
Publicado: (2019)

A case of renovascular hypertension with incidental primary bilateral macronodular adrenocortical hyperplasia
por: Higashitani, Takuya, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_36he7mri5srssihoec4qs1k06l