Found: 71
Select item for more details and to access through your institution.
Contribution of MIC-A Polymorphism to Type 1 Diabetes Mellitus in Basques.
- Published in:
- Annals of the New York Academy of Sciences, 2002, v. 958, n. 1, p. 321, doi. 10.1111/j.1749-6632.2002.tb02996.x
- By:
- Publication type:
- Article
Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature.
- Published in:
- Acta Diabetologica, 2019, v. 56, n. 3, p. 301, doi. 10.1007/s00592-018-1239-3
- By:
- Publication type:
- Article
Assessment of the maturity of the minor in the health field: the perspective of parents and pediatricians.
- Published in:
- Revista Pediatría de Atención Primaria, 2023, v. 25, n. 97, p. e1
- By:
- Publication type:
- Article
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.
- Published in:
- 2019
- By:
- Publication type:
- journal 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
- By:
- 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
- By:
- 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?
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 8, p. 1854, doi. 10.1002/jbmr.408
- By:
- Publication type:
- Article
No Association of TLR2 and TLR4 Polymorphisms with Type I Diabetes Mellitus in the Basque Population.
- Published in:
- Annals of the New York Academy of Sciences, 2006, v. 1079, n. 1, p. 268, doi. 10.1196/annals.1375.040
- By:
- Publication type:
- Article
5′-Insulin Gene VNTR Polymorphism Is Specific for Type 1 Diabetes.
- Published in:
- Annals of the New York Academy of Sciences, 2003, v. 1005, n. 1, p. 319, doi. 10.1196/annals.1288.050
- By:
- Publication type:
- Article
HLA-DRB1 and MICA in Autoimmunity.
- Published in:
- Annals of the New York Academy of Sciences, 2003, v. 1005, n. 1, p. 314, doi. 10.1196/annals.1288.049
- By:
- Publication type:
- Article
Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1274056
- By:
- Publication type:
- Article
New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1165780
- By:
- Publication type:
- Article
New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1165780
- By:
- Publication type:
- Article
Albright's hereditary osteodystrophy: an entity to recognize.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
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
- By:
- Publication type:
- Article
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.
- Published in:
- Clinical Epigenetics, 2015, v. 7, p. 1, doi. 10.1186/s13148-015-0143-8
- By:
- 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. 560, doi. 10.1038/ejhg.2015.40
- By:
- 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
- By:
- Publication type:
- Article
Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.27
- By:
- Publication type:
- Article
Clinical utility gene card for: Pseudohypoparathyroidism.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.211
- By:
- Publication type:
- Article
GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes.
- Published in:
- Diabetes, 2014, v. 63, n. 8, p. 2888, doi. 10.2337/db14-0061
- By:
- Publication type:
- Article
New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features.
- Published in:
- Diabetes, 2007, v. 56, n. 6, p. 1737, doi. 10.2337/db06-1540
- By:
- Publication type:
- Article
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0530-z
- By:
- Publication type:
- Article
Prenatal and foetal autopsy findings in glutaric aciduria type II.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 19, p. 1738, doi. 10.1002/bdr2.1805
- By:
- Publication type:
- Article
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00041
- By:
- Publication type:
- Article
Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS).
- Published in:
- Genes, 2024, v. 15, n. 1, p. 120, doi. 10.3390/genes15010120
- By:
- Publication type:
- Article
Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1461, doi. 10.3390/genes11121461
- By:
- Publication type:
- Article
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.
- Published in:
- European Journal of Endocrinology, 2023, v. 189, n. 1, p. 123, doi. 10.1093/ejendo/lvad085
- By:
- Publication type:
- Article
Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.
- Published in:
- European Journal of Endocrinology, 2021, v. 184, n. 2, p. 311, doi. 10.1530/EJE-20-0625
- By:
- Publication type:
- Article
Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c- KIT Receptor Gene.
- Published in:
- Pediatric Dermatology, 2017, v. 34, n. 1, p. 84, doi. 10.1111/pde.13040
- By:
- Publication type:
- Article
Familial hypercalcemia and hypercalciuria: no mutations in the Ca[sup 2+] -sensing receptor gene.
- Published in:
- Pediatric Nephrology, 2001, v. 16, n. 9, p. 748
- By:
- Publication type:
- Article
Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0630-4
- By:
- Publication type:
- Article
Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 3, p. 289, doi. 10.1515/jpem-2023-0454
- By:
- Publication type:
- Article
Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 11/12, p. 1089, doi. 10.1515/jpem-2014-0020
- By:
- Publication type:
- Article
Familial Hyperinsulinism-Hyperammonemia Syndrome in a Family with Seizures: Case Report.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 8, p. 4253, doi. 10.1007/s00415-022-11051-9
- By:
- Publication type:
- Article
Permanent Neonatal Diabetes Caused by Creation of an Ectopic Splice Site within the INS Gene.
- Published in:
- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029205
- By:
- Publication type:
- Article
Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Epigenetic Defects of GNAS in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 6, p. 2370, doi. 10.1210/jc.2006-2287
- By:
- Publication type:
- Article
Functional Study of a Novel Single Deletion in the TITF1/NKX2.1 Homeobox Gene That Produces Congenital Hypothyroidism and Benign Chorea But Not Pulmonary Distress.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 5, p. 1832, doi. 10.1210/jc.2005-1497
- By:
- Publication type:
- Article
New mutation type in pseudohypoparathyroidism type Ia.
- Published in:
- Clinical Endocrinology, 2008, v. 69, n. 5, p. 705, doi. 10.1111/j.1365-2265.2008.03255.x
- By:
- Publication type:
- Article
Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.
- Published in:
- Clinical Endocrinology, 2008, v. 68, n. 6, p. 873, doi. 10.1111/j.1365-2265.2008.03214.x
- By:
- Publication type:
- Article
Mutations in GCK and HNF-1α explain the majority of cases with clinical diagnosis of MODY in Spain.
- Published in:
- Clinical Endocrinology, 2007, v. 67, n. 4, p. 538, doi. 10.1111/j.1365-2265.2007.02921.x
- By:
- Publication type:
- Article
Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2.
- Published in:
- Frontiers in Endocrinology, 2023, v. 13, p. 1, doi. 10.3389/fendo.2022.1055431
- By:
- Publication type:
- Article
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.
- Published in:
- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0441-z
- By:
- Publication type:
- Article
Brachydactyly E: isolated or as a feature of a syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-141
- By:
- Publication type:
- Article
Brachydactyly E: isolated or as a feature of a syndrome.
- Published in:
- 2013
- By:
- Publication type:
- journal article
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.
- Published in:
- 2015
- By:
- Publication type:
- journal article