(Q36467122)

14 August 2017

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title

Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era. (English)

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14 August 2017

Shiro Ikegawa

1

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14 August 2017

publication date

3 May 2006

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Journal of Human Genetics

14 August 2017

published in

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14 August 2017

volume

51

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14 August 2017

issue

7

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14 August 2017

page(s)

581-586

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https://scigraph.springernature.com/pub.10.1007/s10038-006-0401-x

14 August 2017

exact match

0 references

cites work

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

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Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development

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12 December 2020

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

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COL9A3: A third locus for multiple epiphyseal dysplasia

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A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

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Achondroplasia is defined by recurrent G380R mutations of FGFR3

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12 December 2020

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

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

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Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

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12 December 2020

Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia

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12 December 2020

Stature and severity in multiple epiphyseal dysplasia

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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

Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations

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12 December 2020

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

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12 December 2020

A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia.

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12 December 2020

Japanese type of spondylo-metaphyseal dysplasia

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12 December 2020

Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints

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12 December 2020

Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects

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A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

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Pattern recognition in bone dysplasias.

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12 December 2020

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

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12 December 2020

The gene for achondroplasia maps to the telomeric region of chromosome 4p

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12 December 2020

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia

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12 December 2020

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

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12 December 2020

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

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Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

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12 December 2020

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

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12 December 2020

Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations

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12 December 2020

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

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12 December 2020

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity

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12 December 2020

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12 December 2020

Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375)

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12 December 2020

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

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A nomenclature for constitutional disorders of bone.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

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12 December 2020

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients

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12 December 2020

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

1 reference

12 December 2020

The phenotypic spectrum of COL2A1 mutations

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

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12 December 2020

10.1007/S10038-006-0401-X

Identifiers

DOI

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14 August 2017

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