List of works - Raymond Dalgleish

A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta

scientific journal article

A Gly238Ser substitution in the ?2 chain of type I collagen results in osteogenesis imperfecta type III

scientific article published on 01 February 1995

A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

article

A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta

scientific article published on 01 December 1993

A single amino acid deletion in the ?2(I) chain of type I collagen produces osteogenesis imperfecta type III

scientific article published on 01 February 1993

An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the α1 chain of type I collagen: application to four patients with osteogenesis imperfecta ⬇️

scientific article published on August 1, 1993

An anonymous genomic probe (p lambda KP20.1) detects a multi-allelic locus on chromosome 19 (D19S25)

scientific article published on 01 February 1988

Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.

scientific article published on December 1988

Assignment of secreted phosphoprotein 24 (SPP2) to human chromosome band 2q37-->qter by in situ hybridization.

scientific article published in January 1997

Bgl II RFLPs in the COL1A2 gene in the Finnish population. A comment

scientific article published on 01 January 1988

Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene

scientific article published on 17 February 2011

Boning up on mutations: assessing the significance of candidate disease-causing DNA sequence variation

scientific article published on 01 January 2011

Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family

scientific article

Clarity and claims in variation/mutation databasing

scientific article published on 8 September 2011

Clinical utility gene card for: osteogenesis imperfecta.

scientific article

Confocal immunofluorescence localization of collagen types I, III, IV, V and VI and their ultrastructural organization in term human fetal membranes

scientific article published on 01 July 1993

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

scientific article

Copy number of a human type I alpha 2 collagen gene

scientific article published on 01 November 1982

Curating gene variant databases (LSDBs): toward a universal standard

article

Discordant expression of the G syndrome in monozygotic twins.

scientific article published in April 1988

Dissecting the phenotypic variability of osteogenesis imperfecta

scientific article published in 2022

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

scientific article

Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation

scientific article published on 01 June 1996

Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: no association with premature ovarian failure (POF) in Serbian women.

scientific article published on 20 September 2013

Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

scientific article

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

scientific article published on 01 February 1995

Guidelines for establishing locus specific databases.

scientific article published on 09 December 2011

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

scientific article

Human pro α 1(III) collagen: cDNA sequence for the 3′ end ⬇️

scientific article published on March 25, 1988

Isolation and partial sequence of recombinant plasmids containing human α-, β- and γ-globin cDNA fragments ⬇️

scientific article published on June 22, 1978

LSDBs and How They Have Evolved

scientific article published on 26 February 2016

Lack of association between ESR1 gene polymorphisms and premature ovarian failure in Serbian women.

scientific article

Length polymorphism in the pro alpha 2(I) collagen gene: an alternative explanation in a case of Marfan syndrome

scientific article published on 01 May 1986

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

scientific article published on 01 March 1988

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

scientific article

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

scientific article published on 26 November 2013

Microsatellite variation of ESR1, ESR2, and AR in Serbian women with primary ovarian insufficiency

scientific article published on 29 August 2018

Mutations in COL1A1 Gene Change Dentin Nanostructure: A Response

scientific article published on 26 April 2018

Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure

scientific article published on 10 February 2014

PCR detection of a 38 bp length variant in the COL1A2 gene.

scientific article published on October 1990

PCR detection of a COL1A1RsalRFLP ⬇️

scientific article published on June 11, 1991

Perinatal lethal osteogenesis imperfecta.

scientific article

Planning the human variome project: the Spain report.

scientific article published in April 2009

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

scientific article (publication date: November 2010)

Quantifying the use of bioresources for promoting their sharing in scientific research

scientific article published on May 2013

Regional localization of the human alpha 2(I) collagen gene on chromosome 7 by molecular hybridization

scientific article published on 01 January 1983

SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.

scientific article published in June 1993

Segregation of all four major fibrillar collagen genes in the Marfan syndrome.

scientific article

Solving bottlenecks in data sharing in the life sciences

scientific article

Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III

scientific article published on 01 January 1994

The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".

scientific article published in March 2010

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

scientific article published in 2014

The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles

scientific article published on 13 July 2017

The comparison of the effectiveness of a modified conformation sensitive gel electrophoresis with denaturing high performance liquid chromatography

scientific article published on 01 April 2008

The divergence between human and baboon globin genes

scientific article published on June 2, 1976

Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen

scientific article published on 01 November 1994

Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.

scientific article published on 17 December 2014

Urist's original bone morphogenetic protein: a fragment of the noncollagenous bone matrix protein secreted phosphoprotein 24 (spp24)?

scientific article published on 01 July 2006

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.

scientific article published on October 2017

VarioML framework for comprehensive variation data representation and exchange

scientific article (publication date: 3 October 2012)

Variobox: automatic detection and annotation of human genetic variants

scientific article

WAVe: web analysis of the variome.

scientific article

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update

scientific article published on 05 September 2018

List of works by Raymond Dalgleish

A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta

A Gly238Ser substitution in the ?2 chain of type I collagen results in osteogenesis imperfecta type III

A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta

A single amino acid deletion in the ?2(I) chain of type I collagen produces osteogenesis imperfecta type III

An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the α1 chain of type I collagen: application to four patients with osteogenesis imperfecta ⬇️

An anonymous genomic probe (p lambda KP20.1) detects a multi-allelic locus on chromosome 19 (D19S25)

Apparent monosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis.

Assignment of secreted phosphoprotein 24 (SPP2) to human chromosome band 2q37-->qter by in situ hybridization.

Bgl II RFLPs in the COL1A2 gene in the Finnish population. A comment

Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene

Boning up on mutations: assessing the significance of candidate disease-causing DNA sequence variation

Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family

Clarity and claims in variation/mutation databasing

Clinical utility gene card for: osteogenesis imperfecta.

Confocal immunofluorescence localization of collagen types I, III, IV, V and VI and their ultrastructural organization in term human fetal membranes

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Copy number of a human type I alpha 2 collagen gene

Curating gene variant databases (LSDBs): toward a universal standard

Discordant expression of the G syndrome in monozygotic twins.

Dissecting the phenotypic variability of osteogenesis imperfecta

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation

Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: no association with premature ovarian failure (POF) in Serbian women.

Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

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

Guidelines for establishing locus specific databases.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Human pro α 1(III) collagen: cDNA sequence for the 3′ end ⬇️

Isolation and partial sequence of recombinant plasmids containing human α-, β- and γ-globin cDNA fragments ⬇️

LSDBs and How They Have Evolved

Lack of association between ESR1 gene polymorphisms and premature ovarian failure in Serbian women.

Length polymorphism in the pro alpha 2(I) collagen gene: an alternative explanation in a case of Marfan syndrome

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

Microsatellite variation of ESR1, ESR2, and AR in Serbian women with primary ovarian insufficiency

Mutations in COL1A1 Gene Change Dentin Nanostructure: A Response

Novel variants in the SOHLH2 gene are implicated in human premature ovarian failure

PCR detection of a 38 bp length variant in the COL1A2 gene.

PCR detection of a COL1A1RsalRFLP ⬇️

Perinatal lethal osteogenesis imperfecta.

Planning the human variome project: the Spain report.

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

Quantifying the use of bioresources for promoting their sharing in scientific research

Regional localization of the human alpha 2(I) collagen gene on chromosome 7 by molecular hybridization

SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.

Segregation of all four major fibrillar collagen genes in the Marfan syndrome.

Solving bottlenecks in data sharing in the life sciences

Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III

The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles

The comparison of the effectiveness of a modified conformation sensitive gel electrophoresis with denaturing high performance liquid chromatography

The divergence between human and baboon globin genes

Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen

Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.

Urist's original bone morphogenetic protein: a fragment of the noncollagenous bone matrix protein secreted phosphoprotein 24 (spp24)?

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.

VarioML framework for comprehensive variation data representation and exchange

Variobox: automatic detection and annotation of human genetic variants

WAVe: web analysis of the variome.

hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update