Found: 11
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Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 6, p. 799, doi. 10.1007/s00431-013-2252-8
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- Publication type:
- Article
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 426, doi. 10.1002/ajmg.a.37463
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- Publication type:
- Article
Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1033, doi. 10.1002/ajmg.a.36884
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- Publication type:
- Article
Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 ( NPR2) gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 156, doi. 10.1002/ajmg.a.36218
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- Publication type:
- Article
An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042180
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- Publication type:
- Article
Serum Fibroblast Growth Factor 23 Is a Useful Marker to Distinguish Vitamin D-Deficient Rickets from Hypophosphatemic Rickets.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 4, p. 251, doi. 10.1159/000357142
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- Publication type:
- Article
Detection and Characterization of Two Novel Mutations in the HNF4A Gene in Maturity-Onset Diabetes of the Young Type 1 in Two Japanese Families.
- Published in:
- Hormone Research in Paediatrics, 2013, v. 79, n. 4, p. 220, doi. 10.1159/000350520
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- Publication type:
- Article
A Male Patient with Humoral Hypercalcemia of Malignancy (HHM) with Leukocytosis Caused by Cutaneous Squamous Cell Carcinoma Resulting from Recessive Dystrophic Epidermolysis Bullosa.
- Published in:
- Clinical Pediatric Endocrinology, 2011, v. 20, n. 3, p. 65, doi. 10.1297/cpe.20.65
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- Publication type:
- Article
Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta.
- Published in:
- 2011
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- Publication type:
- journal article
Serum NT-pro CNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia.
- Published in:
- Clinical Endocrinology, 2016, v. 84, n. 6, p. 845, doi. 10.1111/cen.13025
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- Publication type:
- Article
An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
- Published in:
- 2013
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- Publication type:
- Abstract