Lista de obras - Raymond Dalgleish - Dominio Público Uruguay

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

artículo científico publicado en 1993

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de agosto de 1993

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

artículo científico publicado en 1988

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

artículo científico publicado en 1988

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

artículo científico publicado en 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

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

artículo científico publicado en 1985

Clarity and claims in variation/mutation databasing

artículo científico publicado en 2011

Clinical utility gene card for: osteogenesis imperfecta.

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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.

artículo científico publicado en 1988

Dissecting the phenotypic variability of osteogenesis imperfecta

artículo científico publicado en 2022

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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 1987

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.

artículo científico

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

artículo científico publicado en 2016

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

artículo científico publicado el 25 de marzo de 1988

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

artículo científico publicado el 22 de junio de 1978

LSDBs and How They Have Evolved

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

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

artículo científico publicado el 1 de enero de 2011

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

artículo científico publicado en 1988

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 1990

PCR detection of a COL1A1RsalRFLP ⬇️

artículo científico publicado el 11 de junio de 1991

Perinatal lethal osteogenesis imperfecta.

artículo científico publicado en 1995

Planning the human variome project: the Spain report

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 1983

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

artículo científico publicado en 1993

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

artículo científico publicado en 1987

Solving bottlenecks in data sharing in the life sciences

artículo científico publicado en 2012

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

artículo científico publicado en 1994

The Human Collagen Mutation Database 1998 ⬇️

artículo científico publicado el 1 de enero de 1998

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

The divergence between human and baboon globin genes

artículo científico publicado el 2 de junio de 1976

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

artículo científico publicado en 1994

Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

VarioML framework for comprehensive variation data representation and exchange

artículo científico publicado en 2012

Variobox: automatic detection and annotation of human genetic variants

artículo científico publicado en 2013

WAVe: web analysis of the variome.

artículo científico publicado en 2011

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

scientific article published on 05 September 2018

Lista de obras de 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

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

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

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 Collagen Mutation Database 1998 ⬇️

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