(Q41029788)

25 September 2017

1 reference

title

Progress in human chondrodysplasias: molecular genetics (English)

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25 September 2017

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Horton WA

1

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25 September 2017

language of work or name

English

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publication date

1 June 1996

1 reference

Annals of the New York Academy of Sciences

25 September 2017

published in

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25 September 2017

volume

785

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25 September 2017

page(s)

150-159

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Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

25 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the alpha 1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Fibroblast-growth-factor receptor mutations in human skeletal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Functions of fibroblast growth factors and their receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Structural and Functional Diversity in the FGf Receptor Multigene Family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Characterization of human and mouse cartilage oligomeric matrix protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Parathyroid hormone-related peptide-depleted mice show abnormal epiphyseal cartilage development and altered endochondral bone formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Molecular genetics of chondrodysplasias, including clues to development, structure, and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Procollagen II Gene Mutation in Stickler Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1996.TB56253.X

10.1111/J.1749-6632.1996.TB56253.X

21 January 2018

Identifiers

DOI

1 reference

25 September 2017

1 reference