(Q34001578)

30 July 2017

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title

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). (English)

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30 July 2017

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5

David L Rimoin

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30 July 2017

6

Ralph S Lachman

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30 July 2017

Stefan F Nemec

1

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30 July 2017

Daniel H Cohn

series ordinal

2

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30 July 2017

Deborah Krakow

series ordinal

3

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30 July 2017

Vincent A Funari

series ordinal

4

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30 July 2017

publication date

24 August 2011

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30 July 2017

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30 July 2017

volume

42

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30 July 2017

issue

1

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30 July 2017

page(s)

15-23

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Nosology and classification of genetic skeletal disorders: 2010 revision.

30 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

TRPV4-pathy, a novel channelopathy affecting diverse systems

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Brachyolmia: radiographic and genetic evidence of heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Mutations in two regions of FLNB result in atelosteogenesis I and III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Mutations affecting multiple functional domains of FGFR3 cause different skeletal dysplasias: a personal retrospective in honor of John Wasmuth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Transient receptor potential vanilloid 4: The sixth sense of the musculoskeletal system?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00247-011-2229-6

Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature

21 January 2018

1 reference

12 December 2020

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

1 reference

12 December 2020

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias

1 reference

12 December 2020

Brachyolmia: an autosomal dominant form

1 reference

12 December 2020

The type II collagenopathies: a spectrum of chondrodysplasias

1 reference

12 December 2020

[Metatrophic dwarfism]

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12 December 2020

The skeletal dysplasias

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12 December 2020

Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias.

1 reference

12 December 2020

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

1 reference

12 December 2020

10.1007/S00247-011-2229-6

Identifiers

DOI

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Dimensions Publication ID

30 July 2017

1028419773

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