(Q54458912)

English

Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3. (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

Tumoral calcinosis

1 reference

based on heuristic

inferred from title

author name string

Leo Joseph

1

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

Sandra N Hing

2

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

Nadege Presneau

3

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

Paul O'Donnell

4

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

Tim Diss

5

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

Bernadine D Idowu

6

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

Selvanayagam Joseph

7

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

Adrienne Margaret Flanagan

8

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

David Delaney

9

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

publication date

15 October 2009

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

Skeletal Radiology

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

39

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

1

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

63-68

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FGF23 is a hormone-regulating phosphate metabolism--unique biological characteristics of FGF23.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

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/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ribbing disease: radiographic and biochemical characterization, lack of response to pamidronate.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NovelGALNT3Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tumoural calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyperphosphatemic tumoral calcinosis: association with elevation of serum 1,25-dihydroxycholecalciferol concentrations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel recessive mutation of fibroblast growth factor-23 in tumoral calcinosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Klotho spins the thread of life--what does Klotho do to the receptors of fibroblast growth factor-23 (FGF23)?

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

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/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19830424

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00256-009-0808-5

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 May 2018

http://europepmc.org/abstract/MED/19830424

ResearchGate publication ID

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