(Q41099906)

26 September 2017

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title

Bone dysplasias in man: molecular insights (English)

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26 September 2017

Francomano CA

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26 September 2017

McIntosh I

series ordinal

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26 September 2017

Wilkin DJ

series ordinal

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26 September 2017

publication date

1 June 1996

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Current Opinion in Genetics & Development

26 September 2017

published in

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26 September 2017

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26 September 2017

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26 September 2017

page(s)

301-308

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

26 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Finding genes involved in human developmental disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Recent molecular advances in dysmorphology

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Ehlers-Danlos syndrome type IV. Clinical and molecular aspects and guidelines for diagnosis and management

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Ehlers-Danlos syndrome: recent advances and current understanding of the clinical and genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

The human collagen X gene. Complete primary translated sequence and chromosomal localization

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Normal long bone growth and development in type X collagen-null mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Procollagen II Gene Mutation in Stickler Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Genetic and clinical heterogeneity of Stickler syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Diastrophic dysplasia gene maps to the distal long arm of chromosome 5

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Characterization of human and mouse cartilage oligomeric matrix protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Linkage of typical pseudoachondroplasia to chromosome 19

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2896%2980006-2

7 January 2021

10.1016/S0959-437X(96)80006-2

Identifiers

DOI

1 reference

26 September 2017

1 reference