(Q35194635)

English

Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring

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Europe PubMed Central

PubMed publication ID

7 August 2017

Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring (English)

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Europe PubMed Central

PubMed publication ID

7 August 2017

Ehlers-Danlos syndrome

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author name string

D M Milewicz

1

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Europe PubMed Central

PubMed publication ID

7 August 2017

A M Witz

2

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Europe PubMed Central

PubMed publication ID

7 August 2017

A C Smith

3

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

D K Manchester

4

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

G Waldstein

5

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Europe PubMed Central

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7 August 2017

P H Byers

6

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7 August 2017

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publication date

1 July 1993

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Europe PubMed Central

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7 August 2017

American Journal of Human Genetics

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Europe PubMed Central

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7 August 2017

53

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Europe PubMed Central

PubMed publication ID

7 August 2017

1

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Europe PubMed Central

PubMed publication ID

7 August 2017

62-70

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Europe PubMed Central

PubMed publication ID

7 August 2017

Possible gonadal mosaicism in a family with hemoglobin Köln

1 reference

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28 July 2018

Recurrence risks for germinal mosaics

1 reference

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28 July 2018

Dominant ectrodactyly and possible germinal mosaicism

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28 July 2018

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

1 reference

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28 July 2018

The population genetics of Duchenne: natural and artificial selection in Duchenne muscular dystrophy

1 reference

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28 July 2018

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

1 reference

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28 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Gonadal mosaicism in pseudoachondroplasia.

1 reference

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Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

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28 July 2018

A somatic mosaic for haemophilia A detected at the DNA level.

1 reference

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28 July 2018

Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders

1 reference

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28 July 2018

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

1 reference

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28 July 2018

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstab

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Molecular studies of deletions at the human steroid sulfatase locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene

1 reference

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28 July 2018

Mosaicism and sporadic haemophilia: implications for carrier determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Left-handed Z-DNA and intramolecular triplex formation at the site of an unequal sister chromatid exchange.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Recurrence risk of a new dominant mutation in children of unaffected parents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Mutations in collagen genes: causes of rare and some common diseases in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Somatic mosaicism at the Duchenne locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Somatic origin of inherited haemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

28 July 2018

Germinal mosaicism in Apert syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

27 September 2018

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

27 September 2018

A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

25 October 2018

Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not othe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

25 October 2018

Germline mosaicism and Duchenne muscular dystrophy mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682254

8 December 2018

Pregnancy complications in type IV Ehlers-Danlos Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germinal mosaicism in Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germinal mosaicism in Crouzon syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Germinal mosaicism in Crouzon syndrome. A family with three affected siblings of normal parents

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels

1 reference

https://pubmed.ncbi.nlm.nih.gov/8317500

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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