Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta (Q43564734)

24 November 2017

Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta (English)

1 reference

24 November 2017

osteogenesis imperfecta

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author name string

Pallos D

1

1 reference

24 November 2017

Hart PS

2

1 reference

24 November 2017

Cortelli JR

3

1 reference

24 November 2017

Vian S

4

1 reference

24 November 2017

Wright JT

5

1 reference

24 November 2017

Korkko J

6

1 reference

24 November 2017

Brunoni D

7

1 reference

24 November 2017

Hart TC

8

1 reference

24 November 2017

1 May 2001

1 reference

24 November 2017

Archives of Oral Biology

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24 November 2017

46

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24 November 2017

5

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24 November 2017

459-470

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Refinement of the dentinogenesis imperfecta type II locus to an interval of less than 2 centiMorgans at chromosome 4q21 and the creation of a yeast artificial chromosome contig of the critical region

24 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Linkage between dentinogenesis imperfecta and Gc.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Dentinogenesis imperfecta: genetic variations in a six-generation family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Collagen and bone strength

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Procollagen II Gene Mutation in Stickler Syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

The 1993-94 Généthon human genetic linkage map

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

The impact of molecular genetics on oral health paradigms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Construction of multilocus genetic linkage maps in humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Dentinogenesis imperfecta in the Brandywine isolate (DI type III): clinical, radiologic, and scanning electron microscopic studies of the dentition

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Discrimination of morphological findings in dentine from osteogenesis imperfecta patients using combinations of polarized light microscopy, microradiography and scanning electron microscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Genetic linkage of the dentinogenesis imperfecta type III locus to chromosome 4q

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Uninherited dentinogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Heterogeneity of osteogenesis imperfecta type I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Dentin dysplasia type I: a clinical report.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Identification of a CA/TG repeat polymorphism proximal to the human DLX3 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

A proposed classification for heritable human dentine defects with a description of a new entity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Genetic heterogeneity in osteogenesis imperfecta

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Mild forms of dentinogenesis imperfecta in association with osteogenesis imperfecta as characterized by light and transmission electron microscopy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

A second-generation linkage map of the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

The ultrastructure of the dental tissues in dentinogenesis imperfecta in man

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Amino acid sequence environment modulates the disruption by osteogenesis imperfecta glycine substitutions in collagen-like peptides.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0003-9969%2800%2900130-8

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0003-9969(00)00130-8

1 reference

24 November 2017

1 reference