Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets
Authors
Keywords
-
Journal
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Volume 28, Issue 9-10, Pages -
Publisher
Walter de Gruyter GmbH
Online
2015-09-04
DOI
10.1515/jpem-2014-0366
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets
- (2013) Lili Yang et al. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction
- (2012) Jian Ye et al. BMC BIOINFORMATICS
- Novel and de novo PHEX mutations in patients with hypophosphatemic rickets
- (2012) Erdem Durmaz et al. BONE
- Autosomal dominant hypophosphatemic rickets in an 85year old woman: Characterization of her disease from infancy through adulthood
- (2012) Margaret Seton et al. BONE
- Phosphate homeostasis and its role in bone health
- (2012) Maria Goretti M. G. Penido et al. PEDIATRIC NEPHROLOGY
- Correction: Altered Bone Development and an Increase in FGF-23 Expression in Enpp1−/−Mice
- (2012) Neil Charles Wallace Mackenzie et al. PLoS One
- Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
- (2011) Marcos Morey et al. BMC Medical Genetics
- A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene
- (2011) Tasuku Saito et al. BONE
- Three-Year Growth Hormone Treatment in Short Children with X-Linked Hypophosphatemic Rickets: Effects on Linear Growth and Body Disproportion
- (2011) M. Živičnjak et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Iron Modifies Plasma FGF23 Differently in Autosomal Dominant Hypophosphatemic Rickets and Healthy Humans
- (2011) Erik A. Imel et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment
- (2011) Catherine Quinlan et al. PEDIATRIC NEPHROLOGY
- Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene
- (2010) Varda Levy-Litan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets
- (2010) Bettina Lorenz-Depiereux et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets
- (2010) Ryusuke Koshida et al. JOURNAL OF BONE AND MINERAL METABOLISM
- Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation
- (2010) Outi Mäkitie et al. JOURNAL OF BONE AND MINERAL RESEARCH
- A role for surface hydrophobicity in protein-protein recognition
- (2010) L. Young et al. PROTEIN SCIENCE
- Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia
- (2009) Serap Turan et al. BONE
- An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation
- (2009) Moez Gribaa et al. JOURNAL OF BONE AND MINERAL METABOLISM
- Hypophosphatemia: the common denominator of all rickets
- (2009) Dov Tiosano et al. JOURNAL OF BONE AND MINERAL METABOLISM
- Latest findings in phosphate homeostasis
- (2009) Dominique Prié et al. KIDNEY INTERNATIONAL
- Familial hypophosphatemic vitamin D–resistant rickets—prevention of spontaneous dental abscesses on primary teeth: A case report
- (2009) Diane Douyere et al. ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS
- Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation
- (2009) R. Goetz et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets
- (2008) Shoji Ichikawa et al. BONE
- Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets
- (2008) Emily G. Farrow et al. BONE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More