Found: 22
Select item for more details and to access through your institution.
Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2931, doi. 10.1002/ajmg.a.36721
- By:
- Publication type:
- Article
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
- Published in:
- Nature Genetics, 2006, v. 38, n. 11, p. 1248, doi. 10.1038/ng1868
- By:
- Publication type:
- Article
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 345, doi. 10.1038/81664
- By:
- Publication type:
- Article
Persistent symptoms and risk factors predicting prolonged time to symptom-free after SARS‑CoV‑2 infection: an analysis of the baseline examination of the German COVIDOM/NAPKON-POP cohort.
- Published in:
- Infection, 2023, v. 51, n. 6, p. 1679, doi. 10.1007/s15010-023-02043-6
- By:
- Publication type:
- Article
Evaluation of [<sup>18</sup>F]Fluoro-L-DOPA Positron Emission Tomography-Computed Tomography for Surgery in Focal Congenital Hyperinsulinism.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 869, doi. 10.1210/jc.2007-2036
- By:
- Publication type:
- Article
The autosomal dominant hypophosphatemic rickets (ADHR) gene Is a secreted olpypeptide overexpressed by Tumors that cause phosphate wasting.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 2, p. 497, doi. 10.1210/jcem.86.2.7408
- By:
- Publication type:
- Article
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 138, doi. 10.1038/sj.ejhg.5200938
- By:
- Publication type:
- Article
Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 967, doi. 10.1515/jpem-2014-0531
- By:
- Publication type:
- Article
The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations.
- Published in:
- G3: Genes | Genomes | Genetics, 2016, v. 6, n. 12, p. 4035, doi. 10.1534/g3.116.033670
- By:
- Publication type:
- Article
Systemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavage.
- Published in:
- FASEB Journal, 2021, v. 35, n. 2, p. 1, doi. 10.1096/fj.202002113R
- By:
- Publication type:
- Article
Development of A Cell-Based Assay to Identify Small Molecule Inhibitors of FGF23 Signaling.
- Published in:
- Assay & Drug Development Technologies, 2015, v. 13, n. 8, p. 476, doi. 10.1089/adt.2015.653
- By:
- Publication type:
- Article
Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 909, doi. 10.1002/jimd.12109
- By:
- Publication type:
- Article
Viable Ednra mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.
- Published in:
- Mammalian Genome, 2016, v. 27, n. 11/12, p. 587, doi. 10.1007/s00335-016-9664-5
- By:
- Publication type:
- Article
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia.
- Published in:
- Mammalian Genome, 2016, v. 27, n. 3/4, p. 111, doi. 10.1007/s00335-016-9619-x
- By:
- Publication type:
- Article
Erratum to: New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.
- Published in:
- 2014
- By:
- Publication type:
- Erratum
New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.
- Published in:
- Mammalian Genome, 2012, v. 23, n. 7/8, p. 416, doi. 10.1007/s00335-012-9397-z
- By:
- Publication type:
- Article
New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice.
- Published in:
- Mammalian Genome, 2004, v. 15, n. 3, p. 151, doi. 10.1007/s00335-003-2310-z
- By:
- Publication type:
- Article
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
- Published in:
- Human Mutation, 2010, v. 31, n. 11, p. E1851, doi. 10.1002/humu.21362
- By:
- Publication type:
- Article
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 3, p. 385, doi. 10.1093/hmg/ddi034
- By:
- Publication type:
- Article
Early glibenclamide treatment in a clinical newborn with KCNJ11 gene mutation.
- Published in:
- Diabetes Care, 2007, v. 30, n. 10, p. e104, doi. 10.2337/dc07-1318
- By:
- Publication type:
- Article
Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23.
- Published in:
- Kidney International, 2001, v. 60, n. 6, p. 2079, doi. 10.1046/j.1523-1755.2001.00064.x
- By:
- Publication type:
- Article
Ethical and coordinative challenges in setting up a national cohort study during the COVID-19 pandemic in Germany.
- Published in:
- BMC Medical Ethics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12910-023-00959-0
- By:
- Publication type:
- Article