(Q45030056)

8 December 2017

title

Light and electron microscopic abnormalities in diastrophic dysplasia growth cartilage (English)

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8 December 2017

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diastrophic dysplasia

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F Shapiro

1

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8 December 2017

language of work or name

English

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publication date

1 October 1992

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Calcified Tissue International

8 December 2017

published in

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8 December 2017

volume

51

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8 December 2017

issue

4

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8 December 2017

page(s)

324-331

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https://scigraph.springernature.com/pub.10.1007/bf00334495

8 December 2017

exact match

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cites work

Hyaline cartilage changes in diastrophic dwarfism

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12 December 2020

Morphologic studies in the skeletal dysplasias

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12 December 2020

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12 December 2020

DIASTROPHIC DWARFISM IN EARLY INFANCY

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12 December 2020

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12 December 2020

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

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12 December 2020

Pathogenic mechanisms in osteochondrodysplasias

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12 December 2020

Type II collagen screening in the human chondrodysplasias

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12 December 2020

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12 December 2020

Abnormal pattern of segment long spacing (SLS) cartilage collagen in diastrophic dysplasia

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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

Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis

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12 December 2020

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

1 reference

12 December 2020

A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain

1 reference

12 December 2020

Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders

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12 December 2020

Diastropic Dwarfism: a Histochemical and Ultrastructural Study of the Endochondral Growth Plate

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12 December 2020

Morphological and biochemical study of growth cartilage in osteochondrodysplasias

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12 December 2020

[Diastrophic nanism. Apropos of 3 cases in newborn infants]

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12 December 2020

Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia.

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12 December 2020

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12 December 2020

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

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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

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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

Diastrophic dysplasia: the death of a variant.

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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

The spinal disorders in diastrophic dwarfism

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12 December 2020

Identifiers

DOI

10.1007/BF00334495

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Dimensions Publication ID

8 December 2017

1010494328

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1 reference