(Q72164929)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7720740%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7720740%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

main subject

osteogenesis imperfecta

0 references

author

Michael Raghunath

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7720740%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Raymond Dalgleish

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7720740%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

author name string

K Mackay

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7720740%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

B Steinmann

4

1 reference

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24 October 2019

publication date

1 February 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7720740%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Pediatrics

24 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7720740%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

154

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7720740%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7720740%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

page(s)

123-129

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7720740%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf01991915

24 October 2019

exact match

0 references

cites work

Review and hypotheses: somatic mosaicism: observations related to clinical genetics

1 reference

12 December 2020

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

1 reference

12 December 2020

Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic heterogeneity in osteogenesis imperfecta

1 reference

12 December 2020

Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1)

1 reference

12 December 2020

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology

1 reference

12 December 2020

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

1 reference

12 December 2020

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

1 reference

12 December 2020

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

1 reference

12 December 2020

Dominant mutations in familial lethal and severe osteogenesis imperfecta

1 reference

12 December 2020

Lambda ZAP: a bacteriophage lambda expression vector with in vivo excision properties

1 reference

12 December 2020

HLA-DR typing using DNA amplification by the polymerase chain reaction and sequential hybridization to sequence-specific oligonucleotide probes

1 reference

12 December 2020

An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta

1 reference

12 December 2020

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

1 reference

12 December 2020

Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta

1 reference

12 December 2020

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01991915

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7720740%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference