(Q71856490)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8953637%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8953637%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

main subject

osteogenesis imperfecta

0 references

author

Allan M Lund

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8953637%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

author name string

Schwartz M

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8953637%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

Skovby F

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8953637%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

publication date

1 November 1996

1 reference

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21 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8953637%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8953637%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

1032-1038

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8953637%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8953637%20AND%20SRC:MED&resulttype=core&format=json

Osteogenesis imperfecta in Holstein-Friesian calves.

21 October 2019

cites work

1 reference

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Homozygous osteogenesis imperfecta unlinked to collagen I genes

21 January 2018

1 reference

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Germline mosaicism and Duchenne muscular dystrophy mutations

21 January 2018

1 reference

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A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Dominant mutations in familial lethal and severe osteogenesis imperfecta

21 January 2018

1 reference

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Prenatal diagnosis of severe osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Somatic cell mosaicism: Another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Analysis of cultured chorionic villi in a case of osteogenesis imperfecta type II: implications for prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Linkage analysis in dominantly inherited osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199611%2916%3A11%3C1032%3A%3AAID-PD984%3E3.0.CO%3B2-9

10.1002/(SICI)1097-0223(199611)16:11<1032::AID-PD984>3.0.CO;2-9

21 January 2018

Identifiers

DOI

0 references

1 reference