(Q40739827)

23 September 2017

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title

The type II collagenopathies: a spectrum of chondrodysplasias (English)

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23 September 2017

J Spranger

1

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23 September 2017

A Winterpacht

series ordinal

2

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23 September 2017

B Zabel

series ordinal

3

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23 September 2017

publication date

1 February 1994

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European Journal of Pediatrics

23 September 2017

published in

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23 September 2017

volume

153

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23 September 2017

issue

2

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23 September 2017

page(s)

56-65

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https://scigraph.springernature.com/pub.10.1007/s004310050086

23 September 2017

exact match

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cites work

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

1 reference

12 December 2020

HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY

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12 December 2020

Procollagen II Gene Mutation in Stickler Syndrome

1 reference

12 December 2020

Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity

1 reference

12 December 2020

Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases

1 reference

12 December 2020

A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe Osteochondrodysplasia

1 reference

12 December 2020

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

1 reference

12 December 2020

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1

1 reference

12 December 2020

Heritable diseases of collagen

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12 December 2020

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon

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12 December 2020

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia

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12 December 2020

Type II collagen screening in the human chondrodysplasias

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12 December 2020

PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENE

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12 December 2020

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

1 reference

12 December 2020

Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism

1 reference

12 December 2020

Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia

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12 December 2020

An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis

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12 December 2020

Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1).

1 reference

12 December 2020

An inbred line of transgenic mice expressing an internally deleted gene for type II procollagen (COL2A1). Young mice have a variable phenotype of a chondrodysplasia and older mice have osteoarthritic changes in joints

1 reference

12 December 2020

Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia

1 reference

12 December 2020

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

1 reference

12 December 2020

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia

1 reference

12 December 2020

Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia

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12 December 2020

The Wagner-Stickler syndrome: A study of 22 families

1 reference

12 December 2020

Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta

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12 December 2020

A new form of metaphyseal chondrodysplasia in two sibs: surgical treatment of tracheobronchial malacia and scoliosis

1 reference

12 December 2020

Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal d

1 reference

12 December 2020

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

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12 December 2020

Special form of epimetaphyseal osteochondrodysplasia

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12 December 2020

Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity

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12 December 2020

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

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12 December 2020

The Stickler syndrome (hereditary arthroophthalmopathy)

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12 December 2020

Mutations in collagen genes: causes of rare and some common diseases in humans

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12 December 2020

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

1 reference

12 December 2020

Oto-spondylo-megaepiphyseal dysplasia (OSMED).

1 reference

12 December 2020

Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen

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12 December 2020

Micrognathic dwarfism

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12 December 2020

Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia

1 reference

12 December 2020

Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion

1 reference

12 December 2020

Genetic and clinical heterogeneity of Stickler syndrome

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12 December 2020

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

1 reference

12 December 2020

Spondylometepiphyseal dysplasia, Strudwick type

1 reference

12 December 2020

Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain

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12 December 2020

Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia

1 reference

12 December 2020

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis

1 reference

12 December 2020

Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition

1 reference

12 December 2020

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome

1 reference

12 December 2020

The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen

1 reference

12 December 2020

1 reference

12 December 2020

Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy

1 reference

12 December 2020

Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism

1 reference

12 December 2020

Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia

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12 December 2020

Bone dysplasia 'families'.

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12 December 2020

Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene

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12 December 2020

Variability of Stickler syndrome

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12 December 2020

1 reference

12 December 2020

Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias

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12 December 2020

Kniest's syndrome (author's transl)

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12 December 2020

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.

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12 December 2020

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12 December 2020

Identifiers

DOI

10.1007/S004310050086

1 reference

23 September 2017

1 reference