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. (Q34014158)

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English	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.	scientific article

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12 February 2020

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 (English)

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12 February 2020

Ignacio Bernabeu

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12 February 2020

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12 February 2020

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Marcos Morey

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12 February 2020

Lidia Castro-Feijóo

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12 February 2020

Jesús Barreiro

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12 February 2020

Paloma Cabanas

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12 February 2020

Manuel Pombo

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12 February 2020

Marta Gil

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12 February 2020

José M Díaz-Grande

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12 February 2020

Lourdes Rey-Cordo

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12 February 2020

Gema Ariceta

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12 February 2020

Itxaso Rica

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12 February 2020

José Nieto

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12 February 2020

Ramón Vilalta

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12 February 2020

Loreto Martorell

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12 February 2020

Jaime Vila-Cots

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12 February 2020

Fernando Aleixandre

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12 February 2020

Ana Fontalba

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12 February 2020

Leandro Soriano-Guillén

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12 February 2020

José M García-Sagredo

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Sixto García-Miñaur

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12 February 2020

Berta Rodríguez

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12 February 2020

Saioa Juaristi

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12 February 2020

Carmen García-Pardos

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12 February 2020

Antonio Martínez-Peinado

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12 February 2020

José M Millán

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12 February 2020

Ana Medeira

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12 February 2020

Angeles Fernandez

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12 February 2020

Lourdes Loidi

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12 February 2020

publication date

8 September 2011

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12 February 2020

BMC Medical Genetics

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12 February 2020

12

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12 February 2020

116

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12 February 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Fibroblast growth factor 23 is a counter-regulatory phosphaturic hormone for vitamin D.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

A clinical and molecular genetic study of hypophosphatemic rickets in children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Surface plasmon resonance (SPR) confirms that MEPE binds to PHEX via the MEPE-ASARM motif: a model for impaired mineralization in X-linked rickets (HYP)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

FGF23 is processed by proprotein convertases but not by PHEX.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Structure and function of disease-causing missense mutations in the PHEX gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

X-linked hypophosphataemia: a homologous disorder in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Cloning of human PEX cDNA. Expression, subcellular localization, and endopeptidase activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

Evidence that both arginine 102 and arginine 747 are involved in substrate binding to neutral endopeptidase (EC 3.4.24.11).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3189111

5 July 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-116

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-116

21 January 2018

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-116

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-116

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-116

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-116

21 January 2018

A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-116

21 January 2018

Secondary hyperparathyroidism in X-linked hypophosphatemic mice.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-116

21 January 2018

[Spanish cross-sectional growth study 2008. Part II. Height, weight and body mass index values from birth to adulthood]

1 reference

https://pubmed.ncbi.nlm.nih.gov/21902834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21902834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nocturnal hyperparathyroidism: a frequent feature of X-linked hypophosphatemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21902834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of PHEX gene in X-linked hypophosphatemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21902834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PHEX expression in parathyroid gland and parathyroid hormone dysregulation in X-linked hypophosphatemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/21902834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21902834

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1471-2350-12-116

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12 February 2020

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12 February 2020

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12 February 2020

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