Search Results - "Millasseau, P"
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De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies
Published in Science (American Association for the Advancement of Science) (03-06-1994)“…Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies…”
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Isolation of 10 Differentially Expressed cDNAs in p53-Induced Apoptosis: Activation of the Vertebrate Homologue of the Drosophila Seven in Absentia Gene
Published in Proceedings of the National Academy of Sciences - PNAS (30-04-1996)“…We report the isolation of 10 differentially expressed cDNAs in the process of apoptosis induced by the p53 tumor suppressor. As a global analytical method, we…”
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3
E-box- and MEF-2-independent muscle-specific expression, positive autoregulation, and cross-activation of the chicken MyoD (CMD1) promoter reveal an indirect regulatory pathway
Published in Molecular and Cellular Biology (01-08-1994)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3
Published in Human molecular genetics (01-01-1994)“…Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblastic anemia,…”
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5
Genetic and Physiological Data Implicating the New Human Gene G72 and the Gene for D-Amino Acid Oxidase in Schizophrenia
Published in Proceedings of the National Academy of Sciences - PNAS (15-10-2002)“…A map of 191 single-nucleotide polymorphism (SNPs) was built across a 5-Mb segment from chromosome 13q34 that has been genetically linked to schizophrenia. DNA…”
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Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations
Published in European journal of human genetics : EJHG (1994)“…Hyperkalemic periodic paralysis (hyperPP), paramyotonia congenita (PC) and PC with myotonia permanens are closely related muscle disorders of genetic origin…”
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A comprehensive genetic map of the human genome based on 5,264 microsatellites
Published in Nature (London) (14-03-1996)“…The great increase in successful linkage studies in a number of higher eukaryotes during recent years has essentially resulted from major improvements in…”
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The 1993-94 Généthon human genetic linkage map
Published in Nature genetics (01-06-1994)“…In 1992, we described a second-generation genetic linkage map of the human genome. Using 1,267 new microsatellite markers, we now present a new genetic linkage…”
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Identification and characterization of a spinal muscular atrophy-determining gene
Published in Cell (13-01-1995)“…Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive…”
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A second-generation linkage map of the human genome
Published in Nature (London) (29-10-1992)“…A linkage map of the human genome has been constructed based on the segregation analysis of 814 newly characterized polymorphic loci containing short tracts of…”
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Two DRβ Allelic Series Defined by Exon II-Specific Synthetic Oligonucleotide Genomic Hybridization: A Method of HLA Typing?
Published in Proceedings of the National Academy of Sciences - PNAS (01-10-1986)“…Comparisons of exon II HLA-DRβ sequences have shown that nucleotide variations are principally clustered within the following three regions: V1 (amino acid…”
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Use of Synthetic Oligonucleotides for Genomic DNA Dot Hybridization to Split the DQw3 Haplotype
Published in Proceedings of the National Academy of Sciences - PNAS (01-04-1988)“…Comparison of two different HLA-DQβ gene sequences from two DR4 individuals, probably corresponding to DQw3.2 (DQR4) and DQw3.1 (DQR5) specificities, has shown…”
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The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
Published in Cell (18-10-1991)“…Kallmann syndrome associates hypogonadotropic hypogonadism and anosmia and is probably due to a defect in the embryonic migration of olfactory and…”
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Predisposing Gene for Early-Onset Prostate Cancer, Localized on Chromosome 1q42.2-43
Published in American journal of human genetics (01-06-1998)“…There is genetic predisposition associated with ⩾10% of all cancer of the prostate (CaP). By means of a genomewide search on a selection of 47 French and…”
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New methods for detection of HLA genes polymorphism useful for associated diseases studies
Published in Pathologie biologie (Paris) (01-06-1986)“…We have studied in 22 informative families typed for HLA the segregation of DNA restriction fragments obtained with five restriction enzymes and hybridized…”
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Survey of CAG/CTG Repeats in Human cDNAs Representing New Genes: Candidates for Inherited Neurological Disorders
Published in Human molecular genetics (01-07-1996)“…Expansion of polymorphic CAG and CTG repeats in transcripts is the cause of six inherited neurodegenerative or neuromuscular diseases and may be involved in…”
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Down-regulation of mitochondrial mRNAs in the mdx mouse model for Duchenne muscular dystrophy
Published in FEBS letters (20-11-1995)“…In our search for genes up- or down-regulated genes in the mdx mouse model for Duchenne muscular dystrophy, we isolated a down-regulated mitochondrial DNA…”
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Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria
Published in Human molecular genetics (01-01-1993)“…Taking advantage of the 'illegitimate' transcription of the phenylalanine hydroxylase (PAH) gene, we have been able to analyse the PAH cDNA sequence of…”
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Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts
Published in Human molecular genetics (01-09-1993)“…Several new techniques for isolation expressed sequences have been recently described considerably speeding up the identification of unknown genes. Here we…”
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The 1993-94 Généthon human genetic linkage map
Published in Nature genetics (1994)Get full text
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