Lista de obras - David Barton - Dominio Público Uruguay

A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome

artículo científico publicado en 1995

A genome-wide scan for genes involved in primary vesicoureteric reflux.

artículo científico publicado en 2007

A molecular, clinical, and immunohistochemical study of vestibular schwannoma

artículo científico publicado en 1997

A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.

scientific article published on 07 July 2013

Activation of human? 1,-antitrypsin genes in rat hepatoma � human fibroblast hybrid cell lines is correlated with demethylation

article

All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection

artículo científico publicado en 2010

Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study.

artículo científico publicado en 2010

Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number

artículo científico publicado en 1993

Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux

artículo científico publicado en 2002

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2019

B37 repeats are normal in most schizophrenic patients

artículo científico publicado en 1994

Benchmarks for cystic fibrosis carrier screening: a European consensus document

artículo científico publicado en 2010

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis

artículo científico publicado en 2006

Chimaerism shown by cytogenetics and DNA polymorphism analysis.

artículo científico publicado en 1994

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

artículo científico

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

article

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1

artículo científico publicado en 1998

Cross-border genetic testing.

artículo científico publicado en 2010

Cystic fibrosis diagnosed by molecular genetic investigation in the mother of a patient with cystic fibrosis

scientific article published on 01 January 1997

Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.

artículo científico publicado en 1993

Detection of five common CFTR mutations by rapid-cycle real-time amplification refractory mutation system PCR.

artículo científico publicado en 2004

Developing a sustainable process to provide quality control materials for genetic testing

artículo científico publicado en 2005

Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families

artículo científico publicado en 1994

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

artículo científico publicado en 2010

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

artículo científico publicado en 2013

Erratum: Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

scholarly article published in European Journal of Human Genetics

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes ⬇️

artículo científico publicado el 18 de mayo de 2011

Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis

scholarly article by Sarah Berwouts et al published August 2008 in Human Mutation

Familial vesicoureteral reflux: influence of sex on prevalence and expression

artículo científico publicado en 2006

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.

artículo científico publicado en 1999

Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy.

artículo científico publicado en 2005

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

artículo científico publicado en 2017

Genetic Mapping of X-Linked Ocular Albinism: Linkage Analysis in a Large Newfoundland Kindred

article

Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.

artículo científico publicado en 1995

Genetic services in Ireland

artículo científico publicado el 1 de enero de 1997

Genetics of vesicoureteral reflux.

artículo científico publicado en 2011

Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus

artículo científico publicado en 1993

Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype

artículo científico publicado en 1995

Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux

artículo científico publicado en 2013

Human SSAV-related endogenous retroviral element: LTR-like sequence and chromosomal localization to 18q21.

artículo científico publicado en 1989

Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene

artículo científico publicado en 1999

Incidence of Fragile X syndrome in Ireland.

artículo científico publicado en 2017

Instability of normal (CTG)n alleles in the DM kinase gene.

artículo científico publicado en 1997

Intrafamilial Phenotypic Variability in Friedreich Ataxia Associated With a G130V Mutation in the FRDA Gene

article

Investigation of DNA variants specific to ROBO2 Isoform 'a' in Irish vesicoureteric reflux patients reveals marked CpG island variation

artículo científico publicado en 2020

Isolation of a polymorphic DNA segment unique to human chromosome 7 by molecular cloning of hybrid cell DNA

artículo científico publicado en 1983

Isolation of cDNA clones coding for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15

scientific journal article

Isolation, Chromosomal Mapping, and Expression of the Mouse Tyrosinase Gene

article

Issues in Huntington's disease testing

artículo científico publicado en 1994

Level of expression and chromosome mapping of the mouse cholecystokinin gene: implications for murine models of genetic obesity.

artículo científico

Linkage Analysis of Candidate Genes in Families With Vesicoureteral Reflux

article

Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey

artículo científico publicado en 2019

Mapping of Von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis

article

Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin

artículo científico publicado en 1988

Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer

article

Molecular genetic analysis of the mechanism of tumorigenesis in acoustic neuroma.

artículo científico publicado en 1993

Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma.

artículo científico publicado en 1996

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

artículo científico publicado en 1994

Multiallelic synthetic quality control material: lessons learned from the cystic fibrosis external quality assessment scheme

artículo científico publicado en 2011

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

artículo científico publicado en 1994

Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

article

Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations

scientific article published on 01 November 1994

National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years

artículo científico publicado en 2020

Normal CAG and CCG repeats in the Huntington's disease genes of Parkinson's disease patients

artículo científico publicado en 1995

Predictive testing for BRCA1 and 2 mutations: a male contribution

artículo científico publicado en 2003

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

artículo científico publicado en 2010

Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers ⬇️

artículo científico publicado el 1 de diciembre de 1992

Quality assurance practices in Europe: a survey of molecular genetic testing laboratories

artículo científico publicado en 2012

Quality control in molecular genetic testing

article

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

artículo científico publicado en 2013

Reply to Sajantila and Budowle

artículo científico publicado en 2015

Report of an international survey of molecular genetic testing laboratories

artículo científico publicado en 2007

Ribonucleotide reductase M2 subunit sequences mapped to four different chromosomal sites in humans and mice: functional locus identified by its amplification in hydroxyurea-resistant cell lines

artículo científico publicado en 1987

Site of (CCG) polymorphism in the HD gene

artículo científico publicado en 1993

Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma

article

Targeted versus whole-genome array comparative genome hybridization: The Atlantic divide

artículo científico publicado en 2007

The Wilms tumor suppressor gene wt1 is required for development of the spleen

artículo científico publicado en 1999

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

artículo científico publicado en 2012

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2018

The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding

artículo científico publicado en 1987

The human tyrosine aminotransferase gene mapped to the long arm of chromosome 16 (region 16q22?q24) by somatic cell hybrid analysis and in situ hybridization

article

The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland

artículo científico publicado en 2009

The myelin-associated glycoprotein gene: mapping to human chromosome 19 and mouse chromosome 7 and expression in quivering mice

artículo científico publicado en 1987

The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility

article

Two new cases of FMR1 deletion associated with mental impairment.

artículo científico publicado en 1995

Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

artículo científico publicado en 2000

Uroplakin III is not a major candidate gene for primary vesicoureteral reflux

artículo científico publicado en 2005

When good CF tests go bad.

artículo científico publicado en 2008

Lista de obras de David Barton

A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome

A genome-wide scan for genes involved in primary vesicoureteric reflux.

A molecular, clinical, and immunohistochemical study of vestibular schwannoma

A new genome scan for primary nonsyndromic vesicoureteric reflux emphasizes high genetic heterogeneity and shows linkage and association with various genes already implicated in urinary tract development.

Activation of human? 1,-antitrypsin genes in rat hepatoma � human fibroblast hybrid cell lines is correlated with demethylation

All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection

Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study.

Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number

Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

B37 repeats are normal in most schizophrenic patients

Benchmarks for cystic fibrosis carrier screening: a European consensus document

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis

Chimaerism shown by cytogenetics and DNA polymorphism analysis.

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland

Confirmation of FWT1 as a Wilms' tumour susceptibility gene and phenotypic characteristics of Wilms' tumour attributable to FWT1

Cross-border genetic testing.

Cystic fibrosis diagnosed by molecular genetic investigation in the mother of a patient with cystic fibrosis

Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.

Detection of five common CFTR mutations by rapid-cycle real-time amplification refractory mutation system PCR.

Developing a sustainable process to provide quality control materials for genetic testing

Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease

Erratum: Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes ⬇️

Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis

Familial vesicoureteral reflux: influence of sex on prevalence and expression

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.

Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Genetic Mapping of X-Linked Ocular Albinism: Linkage Analysis in a Large Newfoundland Kindred

Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.

Genetic services in Ireland

Genetics of vesicoureteral reflux.

Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus

Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype

Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux

Human SSAV-related endogenous retroviral element: LTR-like sequence and chromosomal localization to 18q21.

Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene

Incidence of Fragile X syndrome in Ireland.

Instability of normal (CTG)n alleles in the DM kinase gene.

Intrafamilial Phenotypic Variability in Friedreich Ataxia Associated With a G130V Mutation in the FRDA Gene

Investigation of DNA variants specific to ROBO2 Isoform 'a' in Irish vesicoureteric reflux patients reveals marked CpG island variation

Isolation of a polymorphic DNA segment unique to human chromosome 7 by molecular cloning of hybrid cell DNA

Isolation of cDNA clones coding for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15

Isolation, Chromosomal Mapping, and Expression of the Mouse Tyrosinase Gene

Issues in Huntington's disease testing

Level of expression and chromosome mapping of the mouse cholecystokinin gene: implications for murine models of genetic obesity.

Linkage Analysis of Candidate Genes in Families With Vesicoureteral Reflux

Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey

Mapping of Von Hippel-Lindau disease to chromosome 3p confirmed by genetic linkage analysis

Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin

Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer

Molecular genetic analysis of the mechanism of tumorigenesis in acoustic neuroma.

Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma.

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

Multiallelic synthetic quality control material: lessons learned from the cystic fibrosis external quality assessment scheme

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations

National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years

Normal CAG and CCG repeats in the Huntington's disease genes of Parkinson's disease patients

Predictive testing for BRCA1 and 2 mutations: a male contribution

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers ⬇️

Quality assurance practices in Europe: a survey of molecular genetic testing laboratories

Quality control in molecular genetic testing

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Reply to Sajantila and Budowle

Report of an international survey of molecular genetic testing laboratories

Ribonucleotide reductase M2 subunit sequences mapped to four different chromosomal sites in humans and mice: functional locus identified by its amplification in hydroxyurea-resistant cell lines

Site of (CCG) polymorphism in the HD gene

Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma

Targeted versus whole-genome array comparative genome hybridization: The Atlantic divide

The Wilms tumor suppressor gene wt1 is required for development of the spleen

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

The copy number variation landscape of congenital anomalies of the kidney and urinary tract