(Q28204793)

English

Some chondrodysplasias with short limbs: molecular perspectives

scientific article (publication date: 15 October 2002)

In more languages

edit

Statements

0 references

1 reference

Europe PubMed Central

title

Some chondrodysplasias with short limbs: molecular perspectives (English)

0 references

author name string

M Michael Cohen

series ordinal

1

0 references

language of work or name

English

0 references

publication date

15 October 2002

0 references

published in

American Journal of Medical Genetics Part A

0 references

volume

112

0 references

issue

3

0 references

page(s)

304-13

0 references

cites work

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Fibroblast growth factor receptor 3 is a negative regulator of bone growth

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

The ins and outs of fibroblast growth factors

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Engineering of fibroblast growth factor: alteration of receptor binding specificity

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Genetic heterogeneity in osteogenesis imperfecta

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Heparin-induced oligomerization of FGF molecules is responsible for FGF receptor dimerization, activation, and cell proliferation

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.10780

retrieved

21 January 2018

Identifiers

DOI

10.1002/AJMG.10780

0 references

PubMed publication ID

12357475

0 references

(Q28204793)

Some chondrodysplasias with short limbs: molecular perspectives

Statements

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)