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Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma.
- Published in:
- International Journal of Endocrinology, 2020, p. 1, doi. 10.1155/2020/2080797
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- Publication type:
- Article
Occurrence of chronic myeloid leukemia in a patient with CDC73 gene deletion: "Chance or Causality?".
- Published in:
- 2021
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- Publication type:
- Case Study
Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass.
- Published in:
- Current Osteoporosis Reports, 2018, v. 16, n. 4, p. 333, doi. 10.1007/s11914-018-0460-x
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- Publication type:
- Article
Mutation of PFN1 Gene in an Early Onset, Polyostotic Paget-like Disease.
- Published in:
- 2020
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- Publication type:
- journal article
Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2016, doi. 10.3390/ijms22042016
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- Publication type:
- Article
Cardiac valvular Ehlers‐Danlos syndrome is a well‐defined condition due to recessive null variants in COL1A2.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 846, doi. 10.1002/ajmg.a.61100
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- Publication type:
- Article
Bone involvement in aldosteronism.
- Published in:
- Journal of Bone & Mineral Research, 2012, v. 27, n. 10, p. 2217, doi. 10.1002/jbmr.1660
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- Publication type:
- Article
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2017, p. 3961, doi. 10.1210/jc.2017-00250
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- Publication type:
- Article
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
- Published in:
- 2017
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- Publication type:
- journal article
Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0445-0
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- Publication type:
- Article
Calcium-Sensing Receptor (CASR) Mutations in Hypercalcemic States: Studies from a Single Endocrine Clinic Over Three Years.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 4, p. 1819, doi. 10.1210/jc.2008-2430
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- Publication type:
- Article
Primary Hyperparathyroidism and the Presence of Kidney Stones Are Associated with Different Haplotypes of the Calcium-Sensing Receptor.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 1, p. 277, doi. 10.1210/jc.2006-0857
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- Publication type:
- Article
Diagnosis of Parathyroid Tumors in Familial Isolated Hyperparathyroidism with HRPT2 Mutation: Implications for Cancer Surveillance.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 8, p. 2827, doi. 10.1210/jc.2005-1239
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- Publication type:
- Article
Blood Ionized Calcium Is Associated with Clustered Polymorphisms in the Carboxyl-Terminal Tail of the Calcium-Sensing Receptor.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 11, p. 5634, doi. 10.1210/jc.2004-0129
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- Publication type:
- Article
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
- Published in:
- European Journal of Endocrinology, 2022, v. 186, n. 3, p. 351, doi. 10.1530/EJE-21-0433
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- Publication type:
- Article
Factors associated with vertebral fracture risk in patients with primary hyperparathyroidism.
- Published in:
- European Journal of Endocrinology, 2014, v. 171, n. 3, p. 399, doi. 10.1530/EJE-14-0343
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- Publication type:
- Article
Candidate gene study of HOXB1 in autism spectrum disorder.
- Published in:
- Molecular Autism, 2010, v. 1, n. 1, p. 1, doi. 10.1186/2040-2392-1-9
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- Publication type:
- Article
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.
- Published in:
- 2018
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- Publication type:
- journal article
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 13, p. 2133, doi. 10.1093/hmg/ddz046
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- Publication type:
- Article
Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.
- Published in:
- 2019
- By:
- Publication type:
- corrected article
Vitamin D status in primary hyperparathyroidism: effect of genetic background.
- Published in:
- Endocrine (1355008X), 2017, v. 55, n. 1, p. 266, doi. 10.1007/s12020-016-0974-x
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- Publication type:
- Article
EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms.
- Published in:
- Endocrine (1355008X), 2016, v. 54, n. 1, p. 55, doi. 10.1007/s12020-016-0892-y
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- Publication type:
- Article
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.
- Published in:
- Biomedicines, 2020, v. 8, n. 12, p. 631, doi. 10.3390/biomedicines8120631
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- Publication type:
- Article
Multiple Endocrine Neoplasia Type 1 Regulates TGFβ-Mediated Suppression of Tumor Formation and Metastasis in Melanoma.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 11, p. 973, doi. 10.3390/cells13110973
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- Publication type:
- Article
CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.
- Published in:
- Cellular Oncology (2211-3428), 2012, v. 35, n. 6, p. 411, doi. 10.1007/s13402-012-0100-x
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- Publication type:
- Article
The Long Non-Coding BC200 Is a Novel Circulating Biomarker of Parathyroid Carcinoma.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.869006
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- Publication type:
- Article
Hepatitis delta virus induces specific DNA methylation processes in Huh-7 liver cancer cells.
- Published in:
- FEBS Letters, 2013, v. 587, n. 9, p. 1424, doi. 10.1016/j.febslet.2013.03.021
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- Publication type:
- Article
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. e24, doi. 10.1002/humu.23851
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- Publication type:
- Article
A single‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1885, doi. 10.1002/humu.23629
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- Publication type:
- Article
Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.
- Published in:
- Nephrology Dialysis Transplantation, 2014, v. 29, n. 10, p. 1902, doi. 10.1093/ndt/gfu065
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- Publication type:
- Article
normocalcemic primary hyperparathyroidism: an update.
- Published in:
- Minerva Endocrinology, 2021, v. 46, n. 3, p. 262, doi. 10.23736/S2724-6507.20.03215-0
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- Publication type:
- Article
Novel association of MEN1 gene mutations with parathyroid carcinoma.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1782, doi. 10.3390/genes14091782
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- Publication type:
- Article
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1513, doi. 10.3390/genes11121513
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- Publication type:
- Article
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.
- Published in:
- Genes, 2019, v. 10, n. 12, p. 967, doi. 10.3390/genes10120967
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- Publication type:
- Article
The Oncosuppressors MEN1 and CDC73 Are Involved in lncRNA Deregulation in Human Parathyroid Tumors.
- Published in:
- Journal of Bone & Mineral Research, 2020, v. 35, n. 12, p. 2423, doi. 10.1002/jbmr.4154
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- Publication type:
- Article
A rare S33C mutation of CTNNB1 encoding β-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.
- Published in:
- Endocrine (1355008X), 2011, v. 40, n. 3, p. 481, doi. 10.1007/s12020-011-9501-2
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- Publication type:
- Article
Identification of two novel mutations and of a novel critical region in the KRIT1 gene.
- Published in:
- Neurogenetics, 2007, v. 8, n. 1, p. 29, doi. 10.1007/s10048-006-0056-y
- By:
- Publication type:
- Article
Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene.
- Published in:
- Journal of Nephrology (JNonline), 2015, v. 28, n. 1, p. 67, doi. 10.1007/s40620-014-0106-8
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- Publication type:
- Article
Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR.
- Published in:
- Journal of Biomedicine & Biotechnology, 2010, p. 1, doi. 10.1155/2010/854737
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- Publication type:
- Article