Found: 17
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Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0328-1
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- Article
Sequence analysis of the catalytic subunit of PKA in somatotroph adenomas.
- Published in:
- European Journal of Endocrinology, 2014, v. 171, n. 6, p. 705, doi. 10.1530/EJE-14-0545
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- Article
Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.
- Published in:
- 2020
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- Publication type:
- journal article
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.
- Published in:
- 2020
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- Publication type:
- journal article
Structure of the TPR Domain of AIP: Lack of Client Protein Interaction with the C-Terminal α-7 Helix of the TPR Domain of AIP Is Sufficient for Pituitary Adenoma Predisposition.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0053339
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- Article
Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1166076
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- Publication type:
- Article
Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.
- Published in:
- 2017
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- Publication type:
- journal article
Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations.
- Published in:
- 2016
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- Publication type:
- journal article
Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers.
- Published in:
- 2015
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- Publication type:
- journal article
IMPLICACIONES DEL DIAGNÓSTICO GENÉTICO DE PRECISIÓN EN EL ABORDAJE DE PACIENTES CON NEOPLASIAS NEUROENDOCRINAS.
- Published in:
- Revista Mexicana de Endocrinología, Metabolismo y Nutrición, 2023, v. 10, p. 51
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- Publication type:
- Article
DETERMINANTS OF CLINICAL BEHAVIOR AND PROGNOSIS IN CUSHING'S DISEASE: A QUEST FOR USEFUL BIOMARKERS.
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- Clinical & Translational Investigation / Revista de Investigación Clínica, 2022, v. 74, n. 5, p. 244, doi. 10.24875/RIC.22000184
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- Publication type:
- Article
Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 10, p. 1, doi. 10.1210/jendso/bvac116
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- Publication type:
- Article
Hotspots of Somatic Genetic Variation in Pituitary Neuroendocrine Tumors.
- Published in:
- Cancers, 2023, v. 15, n. 23, p. 5685, doi. 10.3390/cancers15235685
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- Publication type:
- Article
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland.
- Published in:
- Human Mutation, 2017, v. 38, n. 1, p. 78, doi. 10.1002/humu.23121
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- Article
Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome.
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- 2019
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- Publication type:
- journal article
Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness.
- Published in:
- 2018
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- Publication type:
- journal article
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
- Published in:
- Frontiers in Endocrinology, 2020, v. 11, p. 1, doi. 10.3389/fendo.2020.00433
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- Publication type:
- Article