131 results on '"Hernández-Ramírez, Laura C"'
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2. Clinical Spectrum of USP8 Pathogenic Variants in Cushing's Disease
3. Genetic drivers of Cushing’s disease: Frequency and associated phenotypes
4. An Update on the Genetic Drivers of Corticotroph Tumorigenesis.
5. Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease
6. Corticotropinoma as a Component of Carney Complex
7. The X-linked acrogigantism-associated gene gpr101 is a regulator of early embryonic development and growth in zebrafish
8. The role of the aryl hydrocarbon receptor interacting protein in pituitary tumorigenesis
9. List of contributors
10. Genetics of Cushing’s Syndrome
11. An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations
12. Cyclic 3′,5′-adenosine monophosphate (cAMP) signaling in the anterior pituitary gland in health and disease
13. OR2802 A Novel CABLES1 Missense Variant Associated With Cushing's Disease Disrupts Protein Structure And Stability
14. Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion
15. Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion
16. Hotspots of Somatic Genetic Variation in Pituitary Neuroendocrine Tumors.
17. Germline loss-of-functionPAMvariants are enriched in subjects with pituitary hypersecretion
18. AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience
19. Determinants of Clinical Behavior and Prognosis in Cushing�s Disease: A Quest for Useful Biomarkers
20. Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary
21. A PCR-RFLP method for typing human papillomavirus type 16 variants
22. Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland
23. Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers
24. Chapter 6 - The role of the aryl hydrocarbon receptor interacting protein in pituitary tumorigenesis
25. Potential Role for the RASD1 Glucocorticoid-Responsive Gene in Corticotroph Tumorigenesis
26. Familial Pituitary Adenomas
27. Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
28. Potential markers of disease behavior in acromegaly and gigantism
29. OR06-01 The Role of Germline Defects in Cushing’s Disease
30. Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing’s Disease With or Without an MEN4 Phenotype
31. Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
32. Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
33. Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome
34. Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness
35. Rapid proteasomal degradation of mutant proteins is the primary mechanism leading to tumorigenesis in patients with missense AIP mutations
36. Multi-chaperone function modulation and association with cytoskeletal proteins are key features of the function of AIP in the pituitary gland
37. Germline Or Somatic Gpr101 Duplication Leads To X-Linked Acrogigantism: A Clinico-Pathological And Genetic Study
38. Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease
39. Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease
40. Role of Phosphodiesterases on the Function of Aryl Hydrocarbon Receptor-Interacting Protein (AIP) in the Pituitary Gland and on the Evaluation of AIP Gene Variants
41. Significant Benefits of AIPTesting and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
42. Germline CDKN1BLoss-of-Function Variants Cause Pediatric Cushing’s Disease With or Without an MEN4 Phenotype
43. The Enhanced Proteasomal Degradation of AIP Mutant Proteins Is a Mechanism for AIP Deficiency in AIP mutation-Associated Pituitary Adenomas
44. Increased Population Risk ofAIP-Related Acromegaly and Gigantism in Ireland
45. Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With MissenseAIPMutations
46. Pituitary Adenomas Harboring AIP Mutations Exhibit Phenotype-Genotype Correlation, but No Association with the Germline FGFR4 G388R Variant or Somatic GNAS1 Mutations
47. Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness.
48. Sequence analysis of the catalytic subunit of PKA in somatotroph adenomas
49. 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
50. Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIPMutation Carriers
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