(Q35197867)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

main subject

osteogenesis imperfecta

0 references

author name string

D H Cohn

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

B J Starman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

B Blumberg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

P H Byers

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

language of work or name

English

0 references

publication date

1 March 1990

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

26 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

volume

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

page(s)

591-601

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

Possible gonadal mosaicism in a family with hemoglobin Köln

26 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Dominant ectrodactyly and possible germinal mosaicism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Primordial cell pool size and lineage relationships of five human cell types

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Gene control of mammalian differentiation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Osteogenesis imperfecta type IIA: evidence for dominant inheritance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Gonadal mosaicism in pseudoachondroplasia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Detection of specific sequences among DNA fragments separated by gel electrophoresis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Colony hybridization: a method for the isolation of cloned DNAs that contain a specific gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: A delayed mutation?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

DNA sequencing with chain-terminating inhibitors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

18 In Vitro packaging of λ dam vectors and their use in cloning DNA fragments

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Germinal mosaicism in Apert syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Retroviruses as probes for mammalian development: allocation of cells to the somatic and germ cell lineages.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Germline mosaicism and Duchenne muscular dystrophy mutations

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683617

Two-dimensional CNBr peptide patterns of collagen types I, II and III

15 November 2018

1 reference

12 December 2020

Construction of a broad host range cosmid cloning vector and its use in the genetic analysis of Rhizobium mutants

1 reference

12 December 2020

Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta

1 reference

12 December 2020

X-chromosome inactivation mosaicism in the three germ layers and the germ line of the mouse embryo

1 reference

12 December 2020

DNA and chromatin structure of the human alpha 1 (I) collagen gene

1 reference

12 December 2020

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

1 reference

12 December 2020

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1 reference

12 December 2020

Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen

1 reference

12 December 2020

A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta

1 reference

12 December 2020

Genetic counselling in unexpected familial recurrence of achondroplasia

1 reference

12 December 2020

A novel mutation causes a perinatal lethal form of osteogenesis imperfecta. An insertion in one alpha 1(I) collagen allele (COL1A1)

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2309707%20AND%20SRC:MED&resulttype=core&format=json

26 September 2019

PubMed publication ID

2309707

1 reference