(Q61831294)

Michael J Econs

17

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Pierre Quartier

Pierre Quartier

11

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Valérie Cormier-Daire

Valerie Cormier-Daire

12

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Shoji Ichikawa

1

Shoji Ichikawa

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Andrea H Sorenson

8

Andrea H Sorenson

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Leah R Padgett

6

Leah R Padgett

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author name string

Geneviève Baujat

2

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Aksel Seyahi

3

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Anastasia G Garoufali

4

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Anthony M Austin

7

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Zagorka Pejin

9

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Vicken Topouchian

10

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Michele Dechaux

13

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Fotini Ch Malandrinou

14

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Panagiotis N Singhellakis

15

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Martine Le Merrer

American Journal of Medical Genetics

16

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language of work or name

English

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publication date

April 2010

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published in

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volume

152A

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issue

4

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page(s)

896-903

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cites work

A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis

1 reference

12 December 2020

Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed.

1 reference

12 December 2020

Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family.

1 reference

12 December 2020

Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred

1 reference

12 December 2020

The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.

1 reference

12 December 2020

Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Two novel GALNT3 mutations in familial tumoral calcinosis

1 reference

12 December 2020

A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial tumoral calcinosis caused by a novel FGF23 mutation: response to induction of tubular renal acidosis with acetazolamide and the non-calcium phosphate binder sevelamer

1 reference

12 December 2020

Nonfamilial hyperphosphatemic tumoral calcinosis with ulnar neuropathy

1 reference

12 December 2020

Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features

1 reference

12 December 2020

Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis

1 reference

12 December 2020

Hyperphosphatemia associated with cortical hyperostosis and tumoral calcinosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Tumoral calcinosis, diaphysitis, and hyperphosphatemia

1 reference

12 December 2020

Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity

1 reference

12 December 2020

Ocular tumoral calcinosis. A clinicopathologic study

1 reference

12 December 2020

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

1 reference

12 December 2020

Heterotopic calcification, hyperphosphatemia and angioid streaks of the retina

1 reference

12 December 2020

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

1 reference

12 December 2020

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

1 reference

12 December 2020

A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis

1 reference

12 December 2020

A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification

1 reference

12 December 2020