(Q54305276)

27 May 2018

title

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets. (English)

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27 May 2018

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4

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27 May 2018

Signe Sparre Beck-Nielsen

object named as

Signe S Beck-Nielsen

series ordinal

1

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Kim Brixen

series ordinal

2

object named as

Kim Brixen

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27 May 2018

Jeppe Gram

3

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27 May 2018

publication date

14 June 2012

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27 May 2018

Journal of Human Genetics

published in

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27 May 2018

volume

57

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27 May 2018

issue

7

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27 May 2018

page(s)

453-458

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27 May 2018

Incidence and prevalence of nutritional and hereditary rickets in southern Denmark

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Renal manifestations of Dent disease and Lowe syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

A clinician's guide to X-linked hypophosphatemia

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2012.56

Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: prevention by early treatment with 1-hydroxyvitamin D.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Dentin structure in familial hypophosphatemic rickets: benefits of vitamin D and phosphate treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Clustal W and Clustal X version 2.0

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Structure of human neutral endopeptidase (Neprilysin) complexed with phosphoramidon

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

A clinical and molecular genetic study of hypophosphatemic rickets in children

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

The expanding family of hypophosphatemic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment, and relationship to parathyroid status

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Circulating concentration of FGF-23 increases as renal function declines in patients with chronic kidney disease, but does not change in response to variation in phosphate intake in healthy volunteers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Phenotype Presentation of Hypophosphatemic Rickets in Adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

Dent's disease: identification of a novel mutation in the renal chloride channel CLCN5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

7 January 2021

Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

7 January 2021

A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

7 January 2021

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

7 January 2021

Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

7 January 2021

Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

7 January 2021

Comparison of two assays for fibroblast growth factor (FGF)-23

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

7 January 2021

Sensitivity of Fibroblast Growth Factor 23 Measurements in Tumor-Induced Osteomalacia

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.56

7 January 2021

Identifiers

DOI

10.1038/JHG.2012.56

1 reference

27 May 2018

1 reference

27 May 2018