Lista de obras - John A.L. Armour - Dominio Público Uruguay

33.6 (D1S111) and pMLAJ1 (D1S61) identify the same VNTR on chromosome 1

artículo científico publicado en 1991

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

artículo científico publicado en 2004

A highly polymorphic minisatellite (pMS626) on chromosome 13 (D13S103).

artículo científico publicado en 1991

Abnormal segregation of alleles in CEPH pedigree DNAs arising from allele loss in lymphoblastoid DNA

artículo científico publicado en 1993

Accurate measurement of gene copy number for human alpha-defensin DEFA1A3.

artículo científico publicado en 2013

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.

artículo científico publicado en 2006

Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability

artículo científico publicado en 1993

Allelic imbalance on chromosome 1 in human breast cancer. I. Minisatellite and RFLP analysis

scientific article published on 01 January 1995

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.

scholarly article

Analysis of Multiallelic CNVs by Emulsion Haplotype Fusion PCR

artículo científico publicado en 2017

Analysis of somatic mutations at human minisatellite loci in tumors and cell lines

artículo científico publicado en 1989

Association analysis of the CCL3L1 copy number locus by paralogue ratio test in Norwegian rheumatoid arthritis patients and healthy controls ⬇️

artículo científico publicado el 12 de julio de 2012

Association of β-defensin copy number and psoriasis in three cohorts of European origin.

artículo científico publicado en 2012

Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin

artículo científico publicado en 2009

Biology and applications of human minisatellite loci

artículo científico publicado el 1 de diciembre de 1992

CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis.

artículo científico publicado en 2014

Cis-regulation of inter-allelic exchanges in mutation at human minisatellite MS205 in yeast

artículo científico publicado en 1999

Complex gene conversion events in germline mutation at human minisatellites

article

Compound haplotypes at Xp11.23 and human population growth in Eurasia.

artículo científico publicado en 2004

Constitutional trisomy 8 and Behçet syndrome.

artículo científico publicado en 2009

Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3

artículo científico publicado en 2005

Copy number variation and antigenic repertoire

artículo científico publicado en 2009

Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity.

artículo científico publicado en 2017

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.

artículo científico publicado en 2010

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

artículo científico publicado en 2009

Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR ⬇️

artículo científico publicado el 11 de diciembre de 2012

Direct analysis by small-pool PCR of MS205 minisatellite mutation rates in sperm after mutagenic therapies

scientific article published on 01 September 1999

Directional and balancing selection in human beta-defensins

artículo científico publicado en 2008

Distribution of tandem repeat polymorphism within minisatellite MS621 (D5S110).

artículo científico publicado en 1996

Evaluation of tetranucleotide repeat locus D7S809 (wg1g9) in the Japanese population

artículo científico publicado en 1996

Evaluation of two new STR loci 9q2h2 and wg3f12 in a Japanese population

scientific article published on 01 September 1999

Evolution and population genetics of the H-ras minisatellite and cancer predisposition.

artículo científico publicado en 2003

Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy

artículo científico publicado en 2007

Functional effects of CCL3L1 copy number.

artículo científico publicado en 2012

Genome-wide association study of handedness excludes simple genetic models

artículo científico publicado en 2013

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.

artículo científico publicado en 2006

Heritability of attractiveness to mosquitoes

artículo científico publicado en 2015

Human genetics: measuring the raw material of evolution

artículo científico publicado en 2009

Human minisatellite alleles detectable only after PCR amplification ⬇️

artículo científico publicado el 1 de enero de 1992

Human minisatellite loci composed of interspersed GGA-GGT triplet repeats

scientific article published on 01 September 1995

Isolation of human simple repeat loci by hybridization selection.

artículo científico publicado en 1994

Loss of heterozygosity on the X chromosome in human breast cancer

scientific article published on 01 August 1995

Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.

artículo científico publicado en 2016

MS205 minisatellite diversity in Basques: evidence for a pre-Neolithic component.

artículo científico publicado en 1998

Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.

artículo científico publicado en 2010

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

artículo científico publicado en 2010

Minisatellite diversity supports a recent African origin for modern humans

article

Multilocus genetic models of handedness closely resemble single-locus models in explaining family data and are compatible with genome-wide association studies.

artículo científico publicado en 2013

Multiplex Paralogue Ratio Tests for accurate measurement of multiallelic CNVs

scientific article published on 22 October 2008

Mutation processes at human minisatellites.

artículo científico publicado en 1995

Mutation rate heterogeneity and the generation of allele diversity at the human minisatellite MS205 (D16S309)

artículo científico publicado en 1996

No Evidence for Association of BMI with Salivary Amylase Gene Copy Number in the UK 1958 Birth Cohort

scientific article published on 01 September 2019

No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype.

artículo científico publicado en 2003

Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes

artículo científico publicado en 2015

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.

artículo científico publicado en 2006

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

artículo científico publicado en 1996

Quadruplex MAPH: improvement of throughput in high-resolution copy number screening.

artículo científico publicado en 2009

Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV Series

artículo científico publicado en 2017

Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993

scientific article published on 01 January 1993

Screening for common copy-number variants in cancer genes.

artículo científico publicado en 2010

Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH

article

Sequence analysis of alleles at a microsatellite locus D14S299 (wg1c5) and population genetic comparisons

artículo científico publicado en 1999

Sharp focus on the variable genome

journal article; published in Nature on 2009-10-07

Simple repeat polymorphism at the D9S151 locus.

artículo científico publicado en 1994

Systematic cloning of human minisatellites from ordered array charomid libraries.

artículo científico publicado en 1990

Tandemly repeated DNA: why should anyone care?

artículo científico publicado en 2006

Tetrameric short tandem repeat (STR) system D15S233 (wg1d1): sequencing and frequency data in the japanese and Chinese populations.

artículo científico publicado en 1999

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

artículo científico publicado en 1992

The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells

scientific article published on 01 July 1995

Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome

artículo científico publicado en 1996

Uniparental paternal disomy in Angelman's syndrome ⬇️

artículo científico publicado el 23 de marzo de 1991

α-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

artículo científico publicado en 2010

Lista de obras de John A.L. Armour

33.6 (D1S111) and pMLAJ1 (D1S61) identify the same VNTR on chromosome 1

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

A highly polymorphic minisatellite (pMS626) on chromosome 13 (D13S103).

Abnormal segregation of alleles in CEPH pedigree DNAs arising from allele loss in lymphoblastoid DNA

Accurate measurement of gene copy number for human alpha-defensin DEFA1A3.

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.

Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability

Allelic imbalance on chromosome 1 in human breast cancer. I. Minisatellite and RFLP analysis

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.

Analysis of Multiallelic CNVs by Emulsion Haplotype Fusion PCR

Analysis of somatic mutations at human minisatellite loci in tumors and cell lines

Association analysis of the CCL3L1 copy number locus by paralogue ratio test in Norwegian rheumatoid arthritis patients and healthy controls ⬇️

Association of β-defensin copy number and psoriasis in three cohorts of European origin.

Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin

Biology and applications of human minisatellite loci

CCL3L1 copy number, CCR5 genotype and susceptibility to tuberculosis.

Cis-regulation of inter-allelic exchanges in mutation at human minisatellite MS205 in yeast

Complex gene conversion events in germline mutation at human minisatellites

Compound haplotypes at Xp11.23 and human population growth in Eurasia.

Constitutional trisomy 8 and Behçet syndrome.

Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3

Copy number variation and antigenic repertoire

Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity.

Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis.

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR ⬇️

Direct analysis by small-pool PCR of MS205 minisatellite mutation rates in sperm after mutagenic therapies

Directional and balancing selection in human beta-defensins

Distribution of tandem repeat polymorphism within minisatellite MS621 (D5S110).

Evaluation of tetranucleotide repeat locus D7S809 (wg1g9) in the Japanese population

Evaluation of two new STR loci 9q2h2 and wg3f12 in a Japanese population

Evolution and population genetics of the H-ras minisatellite and cancer predisposition.

Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy

Functional effects of CCL3L1 copy number.

Genome-wide association study of handedness excludes simple genetic models

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.

Heritability of attractiveness to mosquitoes

Human genetics: measuring the raw material of evolution

Human minisatellite alleles detectable only after PCR amplification ⬇️

Human minisatellite loci composed of interspersed GGA-GGT triplet repeats

Isolation of human simple repeat loci by hybridization selection.

Loss of heterozygosity on the X chromosome in human breast cancer

Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.

MS205 minisatellite diversity in Basques: evidence for a pre-Neolithic component.

Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

Minisatellite diversity supports a recent African origin for modern humans

Multilocus genetic models of handedness closely resemble single-locus models in explaining family data and are compatible with genome-wide association studies.

Multiplex Paralogue Ratio Tests for accurate measurement of multiallelic CNVs

Mutation processes at human minisatellites.

Mutation rate heterogeneity and the generation of allele diversity at the human minisatellite MS205 (D16S309)

No Evidence for Association of BMI with Salivary Amylase Gene Copy Number in the UK 1958 Birth Cohort

No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype.

Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.

Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4

Quadruplex MAPH: improvement of throughput in high-resolution copy number screening.

Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV Series

Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993

Screening for common copy-number variants in cancer genes.

Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH

Sequence analysis of alleles at a microsatellite locus D14S299 (wg1c5) and population genetic comparisons

Sharp focus on the variable genome

Simple repeat polymorphism at the D9S151 locus.

Systematic cloning of human minisatellites from ordered array charomid libraries.

Tandemly repeated DNA: why should anyone care?

Tetrameric short tandem repeat (STR) system D15S233 (wg1d1): sequencing and frequency data in the japanese and Chinese populations.

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells

Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome

Uniparental paternal disomy in Angelman's syndrome ⬇️

α-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects