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Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.
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- Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 4, p. 360, doi. 10.4274/jcrpe.4488
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- Article
Ollier disease.
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- Orphanet Journal of Rare Diseases, 2006, v. 1, p. 37, doi. 10.1186/1750-1172-1-37
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- Article
"Isolated" Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case.
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- Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/8217919
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- Article
Parathyroid hormone-related protein and its receptors: nuclear functions and roles in the renal and cardiovascular systems, the placental trophoblasts and the pancreatic islets.
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- British Journal of Pharmacology, 2001, v. 134, n. 6, p. 1113, doi. 10.1038/sj.bjp.0704378
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- Article
GNAS but Not Extended RAS Mutations Spectrum are Associated with a Better Prognosis in Intraductal Pancreatic Mucinous Neoplasms.
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- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2019, v. 26, n. 8, p. 2640, doi. 10.1245/s10434-019-07389-6
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- Article
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 734, doi. 10.1002/ajmg.a.37490
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- Article
Expression of annexin I, II, V, and VI by rat osteoblasts in primary culture: Stimulation of annexin I expression by dexamethasone.
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- Journal of Bone & Mineral Research, 1993, v. 8, n. 10, p. 1201, doi. 10.1002/jbmr.5650081007
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- Article
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.
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- 2015
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- journal article
Analysis of AP2S1, a Calcium-Sensing Receptor Regulator, in Familial and Sporadic Isolated Hypoparathyroidism.
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- 2014
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- Journal Article
Long-Term Results of Continuous Subcutaneous Recombinant PTH (1-34) Infusion in Children with Refractory Hypoparathyroidism.
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- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 11, p. 3308, doi. 10.1210/jc.2011-1359
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- Article
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.
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- 2008
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- Publication type:
- journal article
Absence of Functional Type 1 Parathyroid Hormone (PTH)/PTH-Related Protein Receptors in Humans Is Associated with Abnormal Breast Development and Tooth Impaction.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 4, p. 1788, doi. 10.1210/jcem.86.4.7404
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- Article
Estrogen stimulates PTHrP but not PTH/PTHrP receptor gene expression in the kidney of ovariectomized rat.
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- Journal of Cellular Biochemistry, 1998, v. 70, n. 1, p. 84, doi. 10.1002/(SICI)1097-4644(19980701)70:1<84::AID-JCB9>3.0.CO;2-#
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- Article
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 560, doi. 10.1038/ejhg.2015.40
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- Article
European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 438, doi. 10.1038/ejhg.2014.127
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- Article
Clinical utility gene card for: Pseudohypoparathyroidism.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.211
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- Article
Changes in plasma 1,25 and 24,25-dihydroxyvitamin D after renal transplantation in children.
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- Kidney International, 1981, v. 20, n. 3, p. 403, doi. 10.1038/ki.1981.153
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- Article
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.
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- European Journal of Endocrinology, 2016, v. 175, n. 6, p. 1, doi. 10.1530/EJE-16-0107
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- Article
Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?
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- Pediatric Nephrology, 2018, v. 33, n. 7, p. 1263, doi. 10.1007/s00467-018-3945-z
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- Article
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.
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- Human Molecular Genetics, 2017, v. 26, n. 20, p. 3883, doi. 10.1093/hmg/ddx271
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- Article
Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets.
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- Hormone Research in Paediatrics, 2017, v. 87, n. 1, p. 23, doi. 10.1159/000452886
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- Article
GNAS-Related Loss-of-Function Disorders and the Role of Imprinting.
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- Hormone Research in Paediatrics, 2013, v. 79, n. 3, p. 119, doi. 10.1159/000348516
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- Article
A Cup Half-Full or Half-Empty? When PTHrP Levels Matter.
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- IBMS BoneKEy, 2010, v. 7, n. 9, p. 325, doi. 10.1138/20100465
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- Article
Tubular handling and regulation of sulphate.
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- Nephrology Dialysis Transplantation, 2000, v. 15, p. 34, doi. 10.1093/ndt/15.suppl_6.34
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- Article
Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.
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- 2018
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- Publication type:
- journal article
Pro-FHH: A Risk Equation to Facilitate the Diagnosis of Parathyroid-Related Hypercalcemia.
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- 2018
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- Publication type:
- journal article
Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with GNAS Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b.
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- Human Mutation, 2013, v. 34, n. 8, p. 1172, doi. 10.1002/humu.22352
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- Article
Is FGF23 the long sought after phosphaturic factor phosphatonin?
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- Nephrology Dialysis Transplantation, 2002, v. 17, n. 6, p. 958, doi. 10.1093/ndt/17.6.958
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- Article
PTHR1 mutations associated with Ollier disease result in receptor loss of function.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2766, doi. 10.1093/hmg/ddn176
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- Article
Hyperparathyroidism in Patients With X‐Linked Hypophosphatemia.
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- Journal of Bone & Mineral Research, 2020, v. 35, n. 7, p. 1263, doi. 10.1002/jbmr.3992
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- Article
Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis.
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 2, p. 333, doi. 10.1002/jbmr.2987
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- Article
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
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- Clinical Endocrinology, 2020, v. 93, n. 3, p. 248, doi. 10.1111/cen.14211
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- Article
Gènes de régulation de la voie de l'AMPc, résistance hormonale et dysplasie squelettique.
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- Biologie Aujourd'hui, 2016, v. 210, n. 3, p. 167, doi. 10.1051/jbio/2016018
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- Article
P-glycoprotein inhibitors stimulate renal phosphate reabsorption in rats.
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- Kidney International, 2001, v. 60, n. 3, p. 1069, doi. 10.1046/j.1523-1755.2001.0600031069.x
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- Article
Molecular aspects of renal tubular handling and regulation of inorganic sulfate.
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- Kidney International, 2001, v. 59, n. 3, p. 835, doi. 10.1046/j.1523-1755.2001.059003835.x
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- Article
Sulfate homeostasis, NaSi-1 cotransporter, and SAT-1 exchanger expression in chronic renal failure in rats.
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- Kidney International, 2001, v. 59, n. 1, p. 210, doi. 10.1046/j.1523-1755.2001.00481.x
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- Article
Subtotal nephrectomy alters tubular function: Effect of phosphorus restriction.
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- Kidney International, 1997, v. 52, n. 6, p. 1550, doi. 10.1038/ki.1997.485
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- Publication type:
- Article
Parathyroidectomy does not prevent the renal PTH/PTHrP receptor down-regulation in uremic rats.
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- Kidney International, 1995, v. 47, n. 6, p. 1797, doi. 10.1038/ki.1995.248
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- Article
The renal PTH/PTHrP receptor is down-regulated in rats with chronic renal failure.
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- Kidney International, 1994, v. 45, n. 2, p. 605, doi. 10.1038/ki.1994.79
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- Publication type:
- Article