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Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.
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- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 2, p. 549, doi. 10.1210/clinem/dgad494
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- Article
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
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- Journal of Bone & Mineral Research, 2023, v. 38, n. 6, p. 907, doi. 10.1002/jbmr.4803
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- Article
Tumor-induced Osteomalacia: A Comprehensive Review.
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- Endocrine Reviews, 2023, v. 44, n. 2, p. 323, doi. 10.1210/endrev/bnac026
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- Article
Global Challenges and New Horizons.
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- Journal of Bone & Mineral Research, 2023, v. 38, n. 1, p. 1, doi. 10.1002/jbmr.4749
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- Article
Hypoparathyroidism: Genetics and Diagnosis.
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- Journal of Bone & Mineral Research, 2022, v. 37, n. 12, p. 2615, doi. 10.1002/jbmr.4667
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- Article
Evaluation and Management of Primary Hyperparathyroidism: Summary Statement and Guidelines from the Fifth International Workshop.
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- Journal of Bone & Mineral Research, 2022, v. 37, n. 11, p. 2293, doi. 10.1002/jbmr.4677
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- Article
Epidemiology, Pathophysiology, and Genetics of Primary Hyperparathyroidism.
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- Journal of Bone & Mineral Research, 2022, v. 37, n. 11, p. 2315, doi. 10.1002/jbmr.4665
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- Article
Genetics of monogenic disorders of calcium and bone metabolism.
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- Clinical Endocrinology, 2022, v. 97, n. 4, p. 483, doi. 10.1111/cen.14644
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- Article
Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.
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- JBMR Plus, 2022, v. 6, n. 8, p. 1, doi. 10.1002/jbm4.10659
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- Publication type:
- Article
Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism.
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- European Journal of Endocrinology, 2022, v. 187, n. 1, p. 111, doi. 10.1530/EJE-21-0730
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- Publication type:
- Article
Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.
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- Journal of the Endocrine Society, 2022, v. 6, n. 7, p. 1, doi. 10.1210/jendso/bvac079
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- Article
Author Correction: Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 5, p. 1, doi. 10.1210/jendso/bvac042
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- Publication type:
- Article
Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 10, p. 880, doi. 10.1093/hmg/ddab076
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- Publication type:
- Article
Postsurgical hypoparathyroidism: current treatments and future prospects for parathyroid allotransplantation.
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- European Journal of Endocrinology, 2021, v. 184, n. 5, p. R165, doi. 10.1530/EJE-20-1367
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- Publication type:
- Article
Multiple Endocrine Neoplasia Type 1: Latest Insights.
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- Endocrine Reviews, 2021, v. 42, n. 2, p. 133, doi. 10.1210/endrev/bnaa031
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- Publication type:
- Article
Small molecules restore the function of mutant CLC5 associated with Dent disease.
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- Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 2, p. 1319, doi. 10.1111/jcmm.16091
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- Article
Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression.
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- Journal of Bone & Mineral Research, 2021, v. 36, n. 1, p. 100, doi. 10.1002/jbmr.4156
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- Publication type:
- Article
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2521, doi. 10.1002/ajmg.a.61814
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- Publication type:
- Article
Multiple Endocrine Neoplasia Type 1 (MEN1) Phenocopy Due to a Cell Cycle Division 73 (CDC73) Variant.
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- Journal of the Endocrine Society, 2020, v. 4, n. 11, p. 1, doi. 10.1210/jendso/bvaa142
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- Publication type:
- Article
Aberrant methylation underlies insulin gene expression in human insulinoma.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18839-1
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- Publication type:
- Article
Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model.
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- JBMR Plus, 2020, v. 4, n. 10, p. 1, doi. 10.1002/jbm4.10402
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- Publication type:
- Article
Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus.
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- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 9, p. 1231, doi. 10.1515/jpem-2020-0015
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- Publication type:
- Article
ENDOCRINOLOGY IN THE TIME OF COVID-19: Clinical management of neuroendocrine neoplasms (NENs).
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- European Journal of Endocrinology, 2020, v. 183, n. 2, p. G79, doi. 10.1530/EJE-20-0424
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- Publication type:
- Article
Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations.
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- Human Mutation, 2020, v. 41, n. 8, p. 1341, doi. 10.1002/humu.24052
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- Article
Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly.
- Published in:
- 2020
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- Publication type:
- journal article
Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).
- Published in:
- 2020
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- Publication type:
- journal article
Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.
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- 2019
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- Publication type:
- journal article
What is the appropriate management of nonfunctioning pancreatic neuroendocrine tumours disclosed on screening in adult patients with multiple endocrine neoplasia type 1?
- Published in:
- Clinical Endocrinology, 2019, v. 91, n. 6, p. 708, doi. 10.1111/cen.14094
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- Publication type:
- Article
Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-13145-x
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- Publication type:
- Article
Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases.
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- 2019
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- Publication type:
- journal article
Genetic approaches to metabolic bone diseases.
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- British Journal of Clinical Pharmacology, 2019, v. 85, n. 6, p. 1147, doi. 10.1111/bcp.13803
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- Article
Association of prolactin receptor (PRLR) variants with prolactinomas.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 6, p. 1023, doi. 10.1093/hmg/ddy396
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- Publication type:
- Article
Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.
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- 2018
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- Publication type:
- journal article
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 21, p. 3720, doi. 10.1093/hmg/ddy263
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- Publication type:
- Article
Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.
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- Human Molecular Genetics, 2018, v. 27, n. 5, p. 901, doi. 10.1093/hmg/ddy010
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- Publication type:
- Article
A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.
- Published in:
- Science Signaling, 2018, v. 11, n. 518, p. 1, doi. 10.1126/scisignal.aan3714
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- Article
Jeffrey Lima Hayes O'Riordan: March 27, 1931 – October 9, 2017.
- Published in:
- 2018
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- Publication type:
- Obituary
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα<sub>11</sub> Mutation.
- Published in:
- Journal of Bone & Mineral Research, 2018, v. 33, n. 1, p. 32, doi. 10.1002/jbmr.3241
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- Publication type:
- Article
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
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- Human Mutation, 2017, v. 38, n. 12, p. 1621, doi. 10.1002/humu.23337
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- Publication type:
- Article
Hypercalcemic Disorders in Children.
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 11, p. 2157, doi. 10.1002/jbmr.3296
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- Publication type:
- Article
Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167916
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- Article
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2988, doi. 10.1002/ajmg.a.37755
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- Publication type:
- Article
A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).
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- Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1200, doi. 10.1002/jbmr.2778
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- Publication type:
- Article
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
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- Journal of Bone & Mineral Research, 2016, v. 31, n. 6, p. 1207, doi. 10.1002/jbmr.2797
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- Publication type:
- Article
Management of Hypoparathyroidism: Summary Statement and Guidelines.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Epidemiology and Diagnosis of Hypoparathyroidism.
- Published in:
- 2016
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- Publication type:
- journal article
Presentation of Hypoparathyroidism: Etiologies and Clinical Features.
- Published in:
- 2016
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- Publication type:
- journal article
Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene.
- Published in:
- Clinical Endocrinology, 2016, v. 84, n. 3, p. 463, doi. 10.1111/cen.12953
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- Publication type:
- Article
mi R-135b- and mi R-146b-dependent silencing of calcium-sensing receptor expression in colorectal tumors.
- Published in:
- International Journal of Cancer, 2016, v. 138, n. 1, p. 137, doi. 10.1002/ijc.29681
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- Publication type:
- Article