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Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2017, v. 9, n. 1, p. 74, doi. 10.4274/jcrpe.3191
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- Publication type:
- Article
Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 8, p. 1864, doi. 10.1002/jbmr.369
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- Publication type:
- Article
Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders.
- Published in:
- 2014
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- Publication type:
- journal article
Early vs late histological confirmation of coeliac disease in children with new-onset type 1 diabetes.
- Published in:
- Diabetologia, 2022, v. 65, n. 7, p. 1108, doi. 10.1007/s00125-022-05701-w
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- Publication type:
- Article
Time trends towards earlier puberty in boys and girls with type 1 diabetes: Insights from the German Diabetes Prospective Follow‐up (DPV) registry, 2000 to 2021.
- Published in:
- Diabetes, Obesity & Metabolism, 2024, v. 26, n. 1, p. 293, doi. 10.1111/dom.15315
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- Publication type:
- Article
A Disruptive Mutation in Exon 3 of the GNAS Gene with Albright Hereditary Osteodystrophy, Normocalcemic Pseudohypoparathyroidism, and Selective Long Transcript Variant Gsα-L Deficiency.
- Published in:
- 2007
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- 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
Diabetes and gender incongruence: frequent mental health issues but comparable metabolic control - a DPV registry study.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2023.1240104
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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. 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.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 438, doi. 10.1038/ejhg.2014.127
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- Publication type:
- Article
A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 297, doi. 10.1515/jpem.2011.172
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- Publication type:
- Article
A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 297, doi. 10.1515/JPEM.2011.172
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- Publication type:
- Article
Pseudohypoparathyroidism Type IA (PHP-Ia): Maternally Inherited GNAS Gene Mutation.
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- Journal of Pediatric Endocrinology & Metabolism, 2009, v. 22, n. 2, p. 107, doi. 10.1515/JPEM.2009.22.2.107
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- Publication type:
- Article
Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.
- Published in:
- European Journal of Endocrinology, 2020, v. 183, n. 5, p. 497, doi. 10.1530/EJE-20-0275
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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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- Publication type:
- Article
Isoenzyme type 1 of 5alpha-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5alpha-reductase type 2 deficient males.
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- European Journal of Endocrinology, 2005, v. 152, n. 6, p. 875, doi. 10.1530/eje.1.01927
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- Publication type:
- Article
A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.
- Published in:
- 2022
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- Publication type:
- journal article
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 2, p. 111, doi. 10.1002/mgg3.117
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- Publication type:
- Article
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 3, p. 182, doi. 10.1159/000508985
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- Publication type:
- Article
GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 3, p. 150, doi. 10.1159/000503783
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- Publication type:
- Article
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. 653, doi. 10.1002/humu.21489
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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.
- Published in:
- Journal of Bone & Mineral Research, 2018, v. 33, n. 8, p. 1480, doi. 10.1002/jbmr.3450
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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).
- Published in:
- Journal of Bone & Mineral Research, 2017, v. 32, n. 4, p. 776, doi. 10.1002/jbmr.3083
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- Publication type:
- Article