(Q45187805)

English

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders

scientific article published on 15 December 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders (English)

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Tumoral calcinosis

1 reference

based on heuristic

inferred from title

author name string

Yaacov Frishberg

1

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Orit Topaz

2

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Reuven Bergman

3

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Doron Behar

4

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Drora Fisher

5

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Derek Gordon

6

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Gabriele Richard

7

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Eli Sprecher

8

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

publication date

15 December 2004

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Journal of Molecular Medicine

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

83

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

33-38

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization

1 reference

https://api.crossref.org/works/10.1007%2FS00109-004-0610-8

21 January 2018

Hyperostosis with hyperphosphatemia: evidence of familial occurrence and association with tumoral calcinosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Estimating the age of mutant disease alleles based on linkage disequilibrium

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cortical hyperostosis with hyperphosphatemia: A new syndrome?

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Silver staining of proteins and DNA.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumoral calcinosis, diaphysitis, and hyperphosphatemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cortical hyperostosis with hyperphosphatemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The phosphatonin pathway: new insights in phosphate homeostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

All in the family: the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated serum calcitriol concentrations do not fall in response to hyperphosphatemia in familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cutaneous deposition diseases. Part II

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The syndrome of hyperostosis and hyperphosphatemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15599692

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00109-004-0610-8

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 December 2017

ResearchGate publication ID

0 references

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