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Neonatal severe hyperparathyroidism: further clinical and molecular delineation.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Relationship of Total and Free 25-Hydroxyvitamin D to Biomarkers and Metabolic Indices in Healthy Children.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Increased inorganic sulfate concentrations in amniotic fluid.
- Published in:
- Journal of Perinatal Medicine, 1992, v. 20, n. 6, p. 443
- By:
- Publication type:
- Article
Type 2 diabetes mellitus and inflammation: Prospects for biomarkers of risk and nutritional intervention.
- Published in:
- Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2010, v. 3, p. 173
- By:
- Publication type:
- Article
Whole genome amplification of buccal cell DNA: genotyping concordance before and after multiple displacement amplification.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2005, v. 43, n. 2, p. 157, doi. 10.1515/CCLM.2005.026
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- Publication type:
- Article
Association With Replication Between Estrogen-Related Receptor γ/(ESRRγ) Polymorphisms and Bone Phenotypes in Women of European Ancestry.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 4, p. 901, doi. 10.1359/jbmr.091014
- By:
- Publication type:
- Article
Sporadic and MEN1-Related Primary Hyperparathyroidism: Differences in Clinical Expression and Severity.
- Published in:
- Journal of Bone & Mineral Research, 2009, v. 24, n. 8, p. 1404, doi. 10.1359/JBMR.090304
- By:
- Publication type:
- Article
Alleles of the Estrogen Receptor α-Gene and an Estrogen Receptor Cotranscriptional Activator Gene, Amplified in Breast Cancer-1 ( AIB1), Are Associated with Quantitative Calcaneal Ultrasound.
- Published in:
- Journal of Bone & Mineral Research, 2000, v. 15, n. 11, p. 2231, doi. 10.1359/jbmr.2000.15.11.2231
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- Publication type:
- Article
Determinants of Peak Bone Mass: Clinical and Genetic Analyses in a Young Female Canadian Cohort.
- Published in:
- Journal of Bone & Mineral Research, 1999, v. 14, n. 4, p. 633, doi. 10.1359/jbmr.1999.14.4.633
- By:
- Publication type:
- Article
A Cartilage Matrix Deficiency Experimentally Induced by Vitamin B<sub>6</sub> Deficiency.
- Published in:
- Proceedings of the Society for Experimental Biology & Medicine, 1998, v. 217, n. 1, p. 97, doi. 10.3181/00379727-217-44210
- By:
- Publication type:
- Article
Codon Arg15 Mutations of the AP2S1 Gene: Common Occurrence in Familial Hypocalciuric Hypercalcemia Cases Negative for Calcium-Sensing Receptor (CASR) Mutations.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.
- Published in:
- 2013
- By:
- Publication type:
- Editorial
Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Neonatal Hyperparathyroidism with a Heterozygous Calcium-Sensing Receptor (CASR) R185Q Mutation: Clinical Benefit from Cinacalcet.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 4, p. E707, doi. 10.1210/jc.2010-1306
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Psychosocial aspects of osteogenesis imperfecta.
- Published in:
- Canadian Medical Association Journal (CMAJ), 1986, v. 135, n. 9, p. 977
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- Publication type:
- Article
Sulfites and parenteral nutrition.
- Published in:
- Canadian Medical Association Journal (CMAJ), 1986, v. 134, n. 1, p. 17
- By:
- Publication type:
- Article
Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082292
- By:
- 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
Relationship of the Human Growth Hormone Receptor Exon 3 Genotype with Final Adult Height and Bone Mineral Density.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 2, p. 725, doi. 10.1210/jc.2006-1695
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
A Hypocalcemic Child with a Novel Activating Mutation of the Calcium-Sensing Receptor Gene: Successful Treatment with Recombinant Human Parathyroid Hormone.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 7, p. 2474, doi. 10.1210/jc.2005-2605
- By:
- 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
- By:
- Publication type:
- Article
Recurrent Familial Hypocalcemia Due to Germline Mosaicism for an Activating Mutation of the CalciumSensing Receptor Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 8, p. 3674, doi. 10.1210/jc.2003-030409
- By:
- Publication type:
- Article
Urinary Vitamin D Binding Protein: A Marker of Kidney Tubular Dysfunction in Patients at Risk for Type 2 Diabetes.
- Published in:
- Journal of the Endocrine Society, 2024, v. 8, n. 3, p. 1, doi. 10.1210/jendso/bvae014
- By:
- Publication type:
- Article
A functional polymorphism in the PTHR1 promoter region is associated with adult height and BMD measured at the femoral neck in a large cohort of young caucasian women.
- Published in:
- Human Genetics, 2006, v. 119, n. 4, p. 416, doi. 10.1007/s00439-006-0155-8
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- Publication type:
- Article
Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin—Cohort Study in Ontario, Canada.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2006, v. 98, n. 23, p. 1694, doi. 10.1093/jnci/djj465
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- Publication type:
- Article
Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 9, p. 975, doi. 10.1515/jpem.2010.156
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- Publication type:
- Article
PHENOTYPIC VARIABILITY IN MABRY SYNDROME: EVIDENCE FOR GENETIC HETEROGENEITY.
- Published in:
- Bulletin du Girso, 2012, v. 51, n. 1, p. e31
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- Publication type:
- Article
Glucocorticoid-induced polycystic kidney disease -- A threshold trait.
- Published in:
- Kidney International, 1990, v. 37, n. 3, p. 901, doi. 10.1038/ki.1990.64
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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
- By:
- Publication type:
- Article
25-OHD response to vitamin D supplementation in children: effect of dose but not GC haplotype.
- Published in:
- European Journal of Endocrinology, 2021, v. 185, n. 2, p. 333, doi. 10.1530/EJE-21-0349
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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
- By:
- Publication type:
- Article
Attributing Hardy-Weinberg Disequilibrium to Population Stratification and Genetic Association in Case-Control Studies.
- Published in:
- Annals of Human Genetics, 2010, v. 74, n. 1, p. 77, doi. 10.1111/j.1469-1809.2009.00552.x
- By:
- Publication type:
- Article
Predictors of 25-Hydroxyvitamin D Concentration Measured at Multiple Time Points in a Multiethnic Population.
- Published in:
- American Journal of Epidemiology, 2017, v. 186, n. 10, p. 1180, doi. 10.1093/aje/kwx180
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- Publication type:
- Article
Blood lead levels in children.
- Published in:
- Canadian Medical Association Journal (CMAJ), 1993, v. 149, n. 2, p. 139
- By:
- Publication type:
- Article
G-Protein-Coupled Receptors and Asthma Endophenotypes.
- Published in:
- Molecular Diagnosis & Therapy, 2006, v. 10, n. 6, p. 353, doi. 10.1007/BF03256212
- By:
- Publication type:
- Article
Quantitative assay of plasma homocysteine thiolactone by gas chromatography/mass spectrometry.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2003, v. 17, n. 4, p. 358, doi. 10.1002/rcm.915
- By:
- Publication type:
- Article
Metabolic Syndrome features and risk of neural tube defects.
- Published in:
- BMC Pregnancy & Childbirth, 2007, v. 7, p. 21, doi. 10.1186/1471-2393-7-21
- By:
- Publication type:
- Article
A Phase 2 Trial Exploring the Effects of High-Dose (10,000 lU/Day) Vitamin D<sub>3</sub> in Breast Cancer Patients With Bone Metastases.
- Published in:
- Cancer (0008543X), 2010, v. 116, n. 2, p. 284, doi. 10.1002/cncr.24749
- By:
- Publication type:
- Article
Genetic polymorphisms predisposing to hyperhomocysteinemia in cardiac transplant patients.
- Published in:
- Transplant International, 2005, v. 18, n. 1, p. 29, doi. 10.1111/j.1432-2277.2004.00021.x
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- Publication type:
- Article
New genetic technologies: clinical application and ethical issues in familial ovarian cancer.
- Published in:
- Clinical & Investigative Medicine, 2004, v. 27, n. 1, p. 16
- By:
- Publication type:
- Article
Transforming growth factor beta-1 (TGFB1) and peak bone mass: association between intragenic polymorphisms and quantitative ultrasound of the heel.
- Published in:
- BMC Musculoskeletal Disorders, 2005, v. 6, p. 29, doi. 10.1186/1471-2474-6-29
- By:
- Publication type:
- Article
Chemical and biomechanical characterization of hyperhomocysteinemic bone disease in an animal model.
- Published in:
- BMC Musculoskeletal Disorders, 2003, v. 4, p. 2
- By:
- Publication type:
- Article
The Causal Effect of Vitamin D Binding Protein (DBP) Levels on Calcemic and Cardiometabolic Diseases: A Mendelian Randomization Study.
- Published in:
- PLoS Medicine, 2014, v. 11, n. 10, p. 1, doi. 10.1371/journal.pmed.1001751
- By:
- Publication type:
- Article
Genetic determinants of bone mass acquisition and risk for osteoporosis.
- Published in:
- Drug Development Research, 2000, v. 49, n. 3, p. 216, doi. 10.1002/(SICI)1098-2299(200003)49:3<216::AID-DDR12>3.0.CO;2-A
- By:
- Publication type:
- Article
Variance Formulae for Correlation Measures of Linkage Disequilibrium.
- Published in:
- Human Heredity, 2017, v. 82, n. 1/2, p. 75, doi. 10.1159/000479428
- By:
- Publication type:
- Article
Retrospective estimation of the birth prevalence for delayed onset disorders: application to cystic fibrosis in Nova Scotia.
- Published in:
- 2000
- By:
- Publication type:
- journal article