(Q36963886)

17 August 2017

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

1 reference

17 August 2017

Erik A Imel

7

0 references

Michael J. Econs

object named as

Michael J Econs

8

0 references

Shoji Ichikawa

1

object named as

Shoji Ichikawa

1 reference

17 August 2017

6

Andrea H Sorenson

1 reference

17 August 2017

Elizabeth A Traxler

2

1 reference

17 August 2017

Selina A Estwick

3

1 reference

17 August 2017

Leah R Curry

4

1 reference

17 August 2017

Michelle L Johnson

5

1 reference

17 August 2017

18 June 2008

1 reference

17 August 2017

1 reference

17 August 2017

43

1 reference

17 August 2017

4

1 reference

17 August 2017

663-666

1 reference

Renal phosphate wasting disorders: clinical features and pathogenesis

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

Non-random distribution of mutations in the PHEX gene and under-detected missense mutations at non-conserved residues

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

Fine structure mapping of the human X-linked hypophosphatemic rickets gene locus

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579265

PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia

4 December 2018

1 reference

12 December 2020

Sibling pair linkage and association studies between peak bone mineral density and the gene locus for the osteoclast-specific subunit (OC116) of the vacuolar proton pump on chromosome 11p12-13

1 reference

12 December 2020

Mutational analysis of PHEX gene in X-linked hypophosphatemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Flanking markers define the X-linked hypophosphatemic rickets gene locus

1 reference

12 December 2020

10.1016/J.BONE.2008.06.002

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

18625346

1 reference