(Q46010115)

18 December 2017

title

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. (English)

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18 December 2017

spondyloepiphyseal dysplasia congenita

main subject

0 references

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5

Rimoin DL

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18 December 2017

Ralph S. Lachman

4

object named as

Lachman RS

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18 December 2017

author name string

Unger S

1

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18 December 2017

Korkko J

2

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18 December 2017

Krakow D

3

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18 December 2017

Cohn DH

6

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18 December 2017

publication date

1 November 2001

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18 December 2017

American Journal of Medical Genetics Part A

published in

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18 December 2017

volume

104

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18 December 2017

issue

2

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18 December 2017

page(s)

140-146

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18 December 2017

Completion of the intron-exon structure of the gene for human type II procollagen (COL2A1): variations in the nucleotide sequences of the alleles from three chromosomes

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

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

21 January 2018

1 reference

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Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum

21 January 2018

1 reference

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Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10062

Respiratory complications in children with spondyloepiphyseal dysplasia congenita

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10062

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

Cartilage oligomeric matrix protein interacts with type IX collagen, and disruptions to these interactions identify a pathogenetic mechanism in a bone dysplasia family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

Identification of the molecular defect in a family with spondyloepiphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia

21 January 2018

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Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10062

Identification of col2a1 gene mutations in patients with chondrodysplasias and familial osteoarthritis

21 January 2018

1 reference

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Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene

21 January 2018

1 reference

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Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia

21 January 2018

1 reference

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International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone

21 January 2018

1 reference

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Bone dysplasia in a child born to parents with osteogenesis imperfecta and pseudoachondroplasia

21 January 2018

1 reference

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Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

Natural history study of pseudoachondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10062

21 January 2018

Identifiers

DOI

10.1002/AJMG.10062

1 reference

18 December 2017

PubMed ID

11746045

1 reference

18 December 2017