Found: 19
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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
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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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- Article
No Association of TLR2 and TLR4 Polymorphisms with Type I Diabetes Mellitus in the Basque Population.
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- Annals of the New York Academy of Sciences, 2006, v. 1079, n. 1, p. 268, doi. 10.1196/annals.1375.040
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- 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
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- 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
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- Publication type:
- Article
Head and neck manifestations of an undiagnosed McCune-Albright syndrome: clinicopathological description and literature review.
- Published in:
- 2018
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- Publication type:
- journal 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
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- 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
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- 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
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- 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.
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- 2010
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- 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
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- 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
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- 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
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- Publication type:
- Article
Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.
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- 2012
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- Publication type:
- journal article
Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.
- Published in:
- 2012
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- Publication type:
- journal article
ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation.
- Published in:
- European Journal of Pediatrics, 2009, v. 168, n. 1, p. 65, doi. 10.1007/s00431-008-0710-5
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- Publication type:
- Article
A submicroscopic deletion of 11p13 associated with the WAGR syndrome.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 319, doi. 10.1034/j.1399-0004.2003.00051.x
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- Publication type:
- Article
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2740, doi. 10.1002/ajmg.a.37852
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- Publication type:
- Article
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
- Published in:
- 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