about
Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulinEMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington diseaseThe human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-bindingIsolation of cDNA clones coding for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15The myelin-associated glycoprotein gene: mapping to human chromosome 19 and mouse chromosome 7 and expression in quivering miceCystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.Chimaerism shown by cytogenetics and DNA polymorphism analysis.Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.Instability of normal (CTG)n alleles in the DM kinase gene.Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study.All azoospermic males should be screened for cystic fibrosis mutations before intracytoplasmic sperm injection.Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosisHuman SSAV-related endogenous retroviral element: LTR-like sequence and chromosomal localization to 18q21.Two new cases of FMR1 deletion associated with mental impairment.Developing a sustainable process to provide quality control materials for genetic testing.Quality assurance practices in Europe: a survey of molecular genetic testing laboratoriesA genome-wide scan for genes involved in primary vesicoureteric reflux.Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).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.Benchmarks for cystic fibrosis carrier screening: a European consensus document.Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.Level of expression and chromosome mapping of the mouse cholecystokinin gene: implications for murine models of genetic obesity.Genetics of vesicoureteral reflux.Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma.Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.EMQN Best Practice Guidelines for molecular genetic testing of SCAs.When good CF tests go bad.Reply to Sajantila and Budowle.Targeted versus whole-genome array comparative genome hybridization: The Atlantic divide.The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.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.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.Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.Issues in Huntington's disease testing.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.Site of (CCG) polymorphism in the HD gene.Normal CAG and CCG repeats in the Huntington's disease genes of Parkinson's disease patients.
P50
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P50
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David Barton
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David Barton
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David Barton
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David Barton
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David Barton
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David Barton
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David Barton
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David Barton
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David Barton
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David Barton
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David Barton
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