Works matching DE "PSEUDOHYPOPARATHYROIDISM"
Results: 149
Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a.
- Published in:
- 2018
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- Publication type:
- Case Study
A Novel T55A Variant of G<sub>s</sub>α Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis.
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- Case Reports in Endocrinology, 2016, p. 1, doi. 10.1155/2016/2691385
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- Article
Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a.
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- Hormone Research in Paediatrics, 2015, v. 84, n. 1, p. 1, doi. 10.1159/000381452
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- Article
Diagnosis and Management of Congenital Hypothyroidism Associated with Pseudohypoparathyroidism.
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- Hormone Research in Paediatrics, 2015, v. 83, n. 2, p. 111, doi. 10.1159/000369492
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- Article
Guanine Nucleotide-Binding Protein α Subunit Hypofunction in Children with Short Stature and Disproportionate Shortening of the 4th and 5th Metacarpals.
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- Hormone Research in Paediatrics, 2014, v. 81, n. 3, p. 196, doi. 10.1159/000356928
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- Article
The GNAS Complex Locus and Human Diseases Associated with Loss-of-Function Mutations or Epimutations within This Imprinted Gene.
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- Hormone Research in Paediatrics, 2013, v. 80, n. 4, p. 229, doi. 10.1159/000355384
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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
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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- Article
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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- Article
Spinal cord compression associated with pseudohypoparathyroidism.
- Published in:
- 1990
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- Publication type:
- Case Study
Early presentation of pseudohypoparathyroidism.
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- Journal of the Royal Society of Medicine, 1988, v. 81, n. 11, p. 666, doi. 10.1177/014107688808101119
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- Publication type:
- Article
Familial pseudohypoparathyroidism presenting in adult life.
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- Journal of the Royal Society of Medicine, 1980, v. 73, n. 10, p. 724, doi. 10.1177/014107688007301007
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- Publication type:
- Article
Unusual long bone and metacarpo-carpal abnormalities in a case of pseudo-pseudohypoparathyroidism.
- Published in:
- 2007
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- Publication type:
- Report
Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation.
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- British Journal of Dermatology, 2010, v. 162, n. 3, p. 690, doi. 10.1111/j.1365-2133.2009.09543.x
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- Article
A Case Report of Basal Ganglia Calcification - A Rare Finding of Hypoparathyroidism.
- Published in:
- 2009
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- Publication type:
- Case Study
Brachydactyly E: isolated or as a feature of a syndrome.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-141
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- Article
TYPE Ib PSEUDOHYPOPARATHYROIDISM ASSOCIATED WITH THROMBOCYTOPENIA AND POSSIBLY RESISTANCE TO TSH.
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- Acta Endocrinologica (1841-0987), 2008, v. 4, n. 3, p. 321, doi. 10.4183/aeb.2008.321
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- Article
PSEUDOHYPOPARATHYROIDISM.
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- Acta Endocrinologica (1841-0987), 2007, v. 3, n. 4, p. 503, doi. 10.4183/aeb.2007.503
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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
Concomitance of types D and E brachydactyly: a case report.
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- European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 23, p. 4549
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- Article
Pseudohypoparathyroidism and Pseudo-pseudohypoparathyroidism.
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- British Journal of Dermatology, 1974, v. 91, n. 6, p. 711, doi. 10.1111/1365-2133.ep17028712
- Publication type:
- Article
Case Report of a Satin Guinea Pig with Fibrous Osteodystrophy That Resembles Human Pseudohypoparathyroidism.
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- 2017
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- Publication type:
- Case Study
Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus.
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- Human Molecular Genetics, 2001, v. 10, n. 12, p. 1231, doi. 10.1093/hmg/10.12.1231
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- Article
A case of pseudohypoparathyroidism type 1a complicated with growth hormone deficiency: recovery of growth hormone secretion after vitamin D therapy.
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- European Journal of Pediatrics, 2001, v. 160, n. 11, p. 679, doi. 10.1007/s004310100837
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- Publication type:
- Article
Stimulatory guanine nucleotide binding protein subunit 1 mutation in two siblings with pseudohypoparathyroidism type 1a and mother with pseudopseudohypoparathyroidism.
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- 1999
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- Publication type:
- journal article
Pseudohypoparathyroidism: A Case Report of a Rare Disease with Uncommon Presentation Producing Diagnostic Dilemma.
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- 2011
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- Publication type:
- Case Study
Albright's hereditary osteodystrophy in conjunction with growth hormone deficiency and adrenal insufficiency.
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- Journal of Dialog in Endocrinology / Endokrinolide Diyalog Dergisi, 2011, v. 8, n. 3, p. 138
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- Article
Pseudohypoparathyroidism type 1a.
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- 2018
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- Publication type:
- Case Study
Knuckle–dimple sign.
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- QJM: An International Journal of Medicine, 2013, v. 106, n. 1, p. 83, doi. 10.1093/qjmed/hcr220
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- Publication type:
- Article
Albright hereditary osteodystrophy: A rare case report.
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- 2009
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- Publication type:
- Case Study
Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology.
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- Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 975, doi. 10.1007/s10815-018-1129-1
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- Article
Role of DNA methylation in imprinting disorders: an updated review.
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- Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 5, p. 549, doi. 10.1007/s10815-017-0895-5
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- Publication type:
- Article
Spinal Stenosis with Paraparesis in Albright Hereditary Osteodystrophy.
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- Pediatric Neurosurgery, 2008, v. 44, n. 4, p. 337, doi. 10.1159/000138373
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- Publication type:
- Article
Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.
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- Gynecological Endocrinology, 2014, v. 30, n. 10, p. 694, doi. 10.3109/09513590.2014.929654
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- Article
Management of Pseudohypoparathyroidism Type 1a during Pregnancy and Labor: A Case Report.
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- Case Reports in Obstetrics & Gynecology, 2012, p. 1, doi. 10.1155/2012/629583
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- Article
Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female.
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- International Medical Case Reports Journal, 2012, v. 5, p. 49, doi. 10.2147/IMCRJ.S34079
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- Article
Albright hereditary osteodystrophy: dental management case report.
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- RGO: Revista Gaúcha de Odontologia, 2018, v. 66, n. 1, p. 106, doi. 10.1590/1981-863720180001000153289
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- Publication type:
- Article
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 494, doi. 10.1038/ejhg.2014.133
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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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- Publication type:
- 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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- Publication type:
- Article
Health‐related quality of life in patients with nonsurgical hypoparathyroidism and pseudohypoparathyroidism.
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- Clinical Endocrinology, 2018, v. 88, n. 6, p. 838, doi. 10.1111/cen.13593
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- Article
Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.
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- Clinical Endocrinology, 2018, v. 88, n. 2, p. 285, doi. 10.1111/cen.13516
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- Article
Pseudohypoparathyroidism - epidemiology, mortality and risk of complications.
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- Clinical Endocrinology, 2016, v. 84, n. 6, p. 904, doi. 10.1111/cen.12948
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- Publication type:
- Article
Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene.
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- Clinical Endocrinology, 2016, v. 84, n. 3, p. 463, doi. 10.1111/cen.12953
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- Publication type:
- Article
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
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- Clinical Endocrinology, 2011, v. 75, n. 2, p. 207, doi. 10.1111/j.1365-2265.2011.04026.x
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- Article
New mutation type in pseudohypoparathyroidism type Ia.
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- Clinical Endocrinology, 2008, v. 69, n. 5, p. 705, doi. 10.1111/j.1365-2265.2008.03255.x
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- Publication type:
- Article
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsα.
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- Clinical Endocrinology, 2008, v. 68, n. 2, p. 233, doi. 10.1111/j.1365-2265.2007.03025.x
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- Publication type:
- Article