Works matching DE "PSEUDOHYPOPARATHYROIDISM"
Results: 150
A case report of defective endogenous vitamin D: a new clinical entity.
- Published in:
- 2014
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- Publication type:
- Case Study
Identification of a Novel Mutation in a Pseudohypoparathyroidism Family.
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- International Journal of Endocrinology, 2011, p. 1, doi. 10.1155/2011/509549
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- Publication type:
- Article
Ectopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a.
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- International Journal of Endocrinology, 2009, p. 1, doi. 10.1155/2009/931057
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- Publication type:
- Article
Incidence of juvenile osteodystrophy in hand-reared grey parrots (Psittacus e erithacus).
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- Veterinary Record: Journal of the British Veterinary Association, 2003, v. 152, n. 14, p. 438, doi. 10.1136/vr.152.14.438
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- Publication type:
- Article
Pseudohypoparathyroidism with diabetes mellitus and hypothyroidism.
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- Indian Pediatrics, 2012, v. 49, n. 12, p. 989, doi. 10.1007/s13312-012-0225-z
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- Article
Case Reports.
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- Indian Pediatrics, 2012, v. 49, n. 8, p. 667, doi. 10.1007/s13312-012-0123-4
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- Article
Albright hereditary osteodystrophy: A rare case report.
- Published in:
- 2009
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- Publication type:
- Case Study
Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism.
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- Clinical & Experimental Dermatology, 2012, v. 37, n. 6, p. 646, doi. 10.1111/j.1365-2230.2011.04292.x
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- Publication type:
- Article
Multiple Osteoma Cutis of the Wrist and Hand.
- Published in:
- 2018
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- Publication type:
- Case Study
Albright Hereditary Osteodystrophy: A Case Report.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Pseudohypoparathyroidism.
- Published in:
- 2014
- By:
- Publication type:
- Letter to the Editor
Pseudohypoparathyroidism, Rare Cause of Hypocalcaemia!
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- Journal of Clinical & Diagnostic Research, 2013, v. 7, n. 10, p. 2288, doi. 10.7860/JCDR/2013/5845.3499
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- Publication type:
- Article
Albright's Hereditary Osteodystrophy Comprising Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism.
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- Annals of Internal Medicine, 1962, v. 56, n. 2, p. 315, doi. 10.7326/0003-4819-56-2-315
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- Publication type:
- Article
Pseudohypoparathyroidism.
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- Annals of Internal Medicine, 1962, v. 56, n. 2, p. 282, doi. 10.7326/0003-4819-56-2-282
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- Publication type:
- Article
Pseudohypoparathyroidism and Hypothyroidism.
- Published in:
- Annals of Internal Medicine, 1962, v. 56, n. 2, p. 276, doi. 10.7326/0003-4819-56-2-276
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- Publication type:
- Article
Pseudohypoparathyroidism as a Cause of Refractory Seizures.
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- Journal of Nepal Paediatric Society, 2014, v. 34, n. 2, p. 166, doi. 10.3126/jnps.v34i2.10602
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- Publication type:
- Article
Seudohipoparatiroidismo neonatal transitorio: una causa rara de hipocalcemia neonatal tardía.
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- Acta Pediátrica Española, 2012, v. 70, n. 4, p. 166
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- Publication type:
- Article
A study of computed tomography scan and magnetic resonance imaging findings in pseudohypoparathyroidism.
- Published in:
- 2010
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- Publication type:
- Case Study
Pseudohypoparathyroidism Type-II with Striopallidodentate calcification with positive anti glutamic acid decarboxylase antibody and seizures.
- Published in:
- 2011
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- Publication type:
- Case Study
Pseudohypoparathyroidism type 1B - a rare cause of tetany: case report.
- Published in:
- 2018
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- Publication type:
- Case Study
Pseudohypoparathyroidism — another monogenic obesity syndrome.
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- Clinical Endocrinology, 2000, v. 52, n. 3, p. 389, doi. 10.1046/j.1365-2265.2000.00911.x
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- Publication type:
- Article
GNAS1 mutational analysis in pseudohypoparathyroidism.
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- Clinical Endocrinology, 1998, v. 49, n. 4
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- Publication type:
- Article
Two mutations of the Gsα gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
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- Journal of Human Genetics, 2001, v. 46, n. 7, p. 426, doi. 10.1007/s100380170062
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- Publication type:
- Article
A Family with Congenital Hypothyroidism Caused by a Combination of Loss-of-Function Mutations in the Thyrotropin Receptor and Adenylate Cyclase-Stimulating G Alpha-Protein Subunit Genes.
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- Thyroid, 2011, v. 21, n. 2, p. 103, doi. 10.1089/thy.2010.0187
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- Publication type:
- Article
Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early‐Onset Obesity.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 8, p. 1480, doi. 10.1002/jbmr.3450
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- Publication type:
- Article
Bone Mineral Density and Its Serial Changes Are Associated With PTH Levels in Pseudohypoparathyroidism Type 1B Patients.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 4, p. 743, doi. 10.1002/jbmr.3360
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- Publication type:
- Article
Bone Status Among Patients With Nonsurgical Hypoparathyroidism, Autosomal Dominant Hypocalcaemia, and Pseudohypoparathyroidism: A Cohort Study.
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- Journal of Bone & Mineral Research, 2018, v. 33, n. 3, p. 467, doi. 10.1002/jbmr.3328
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- Publication type:
- Article
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 4, p. 776, doi. 10.1002/jbmr.3083
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- Publication type:
- Article
Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 4, p. 770, doi. 10.1002/jbmr.3043
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- Publication type:
- Article
A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.
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- Journal of Bone & Mineral Research, 2015, v. 30, n. 10, p. 1803, doi. 10.1002/jbmr.2532
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- Publication type:
- Article
TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP-Ib).
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- Journal of Bone & Mineral Research, 2015, v. 30, n. 5, p. 906, doi. 10.1002/jbmr.2408
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- Publication type:
- Article
Postnatal Establishment of Allelic Gαs Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous Gαs Disruption.
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- Journal of Bone & Mineral Research, 2014, v. 29, n. 3, p. 749, doi. 10.1002/jbmr.2070
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- Publication type:
- Article
Parathyroid hormone signaling via Gαs is selectively inhibited by an NH<sub>2</sub>-terminally truncated Gαs: Implications for pseudohypoparathyroidism.
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- Journal of Bone & Mineral Research, 2011, v. 26, n. 10, p. 2473, doi. 10.1002/jbmr.461
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- Publication type:
- Article
Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?
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- Journal of Bone & Mineral Research, 2011, v. 26, n. 8, p. 1854, doi. 10.1002/jbmr.408
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- Publication type:
- Article
Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review.
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- European Journal of Endocrinology, 2023, v. 189, n. 5, p. S103, doi. 10.1093/ejendo/lvad142
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- Publication type:
- 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
Pediatric Radiology Continuing Medical Education Activity.
- Published in:
- 2016
- Publication type:
- journal article
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 7, p. 1383, doi. 10.1210/js.2019-00073
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- Publication type:
- Article
Management of pseudohypoparathyroidism in pregnancy: a case report.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Concomitance of types D and E brachydactyly: a case report.
- Published in:
- European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 23, p. 4549
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- Publication type:
- Article
Case of CATCH 22 syndrome complicated with pseudohypoparathyroidism and unilateral renal aplasia.
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- Pediatrics International, 2002, v. 44, n. 1, p. 109, doi. 10.1046/j.1442-200X.2002.01485.x
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- Publication type:
- Article
PSEUDOHYPOPARATHYROIDISM.
- Published in:
- Australasian Journal of Dermatology, 1960, v. 5, n. 3, p. 167, doi. 10.1111/j.1440-0960.1960.tb01586.x
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- Publication type:
- Article
Pseudohypoparathyroidism and Pseudo-pseudohypoparathyroidism.
- Published in:
- British Journal of Dermatology, 1974, v. 91, n. 6, p. 711, doi. 10.1111/1365-2133.ep17028712
- Publication type:
- Article
A Novel T55A Variant of G<sub>s</sub>α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.
- Published in:
- Case Reports in Endocrinology, 2016, p. 1, doi. 10.1155/2016/2691385
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- Publication type:
- Article
Ain't No Sunshine When She's Gone: Pseudohypoparathyroidism Discovered in an Adult.
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- Case Reports in Endocrinology, 2012, p. 1, doi. 10.1155/2012/739375
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- Publication type:
- Article
Multilocus methylation defects in imprinting disorders.
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- Biomolecular Concepts, 2015, v. 6, n. 1, p. 47, doi. 10.1515/bmc-2014-0037
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- Publication type:
- Article
Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0175-8
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- Publication type:
- Article
A Case Report of Basal Ganglia Calcification - A Rare Finding of Hypoparathyroidism.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117691
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- Publication type:
- Article