-
1
المؤلفون: J. Gheuens, J. J. Martin, Michael Mullan, Gerd Multhaup, N.G. Irving, Antoon Vandenberghe, Hugh Gurling, W. Van Hul, A. Genthe, John Hardy, A. Wehnert, A. Barton, M. Salbaum, Bernhard Horsthemke, Marc Bruyland, H Backhovens, S. J. Richards, Konrad Beyreuther, C. Van Broeckhoven, A. Holland, Robert Williamson, Colin L. Masters, Peter Raeymaekers, Patrick Cras
المصدر: Nature
مصطلحات موضوعية: Adult, Male, Amyloid, Chromosomes, Human, Pair 21, Genetic Linkage, Locus (genetics), Disease, Biology, Alzheimer Disease, Genetic linkage, medicine, Humans, Senile plaques, Protein Precursors, Genetics, Amyloid beta-Peptides, Polymorphism, Genetic, Multidisciplinary, Molecular pathology, Chromosome Mapping, medicine.disease, Pedigree, Genes, Female, Alzheimer's disease, Chromosome 21, Engineering sciences. Technology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f73777dee0f802153a1b26c3c1a5967aTest
https://doi.org/10.1038/329153a0Test -
2
المؤلفون: Victor Chan, Claude Stoll, Philippe Latour, François Ziegler, Elisabeth Ollagnon, Serge Perelman, Tanya Stojkovic, Christophe Vial, Antoon Vandenberghe, Pierre-Marie Gonnaud, Irène Maire
المصدر: Journal of the Peripheral Nervous System. 11:148-155
مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Disease, Biology, medicine.disease_cause, Charcot-Marie-Tooth Disease, Sequence Analysis, Protein, Lysosome, medicine, Humans, Missense mutation, Coding region, Child, Gene, Late endosome, Aged, Genes, Dominant, Retrospective Studies, Family Health, Genetics, Mutation, General Neuroscience, Infant, Nuclear Proteins, Exons, Middle Aged, Pedigree, Phenotype, medicine.anatomical_structure, Child, Preschool, Mutation testing, Female, Neurology (clinical), Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3d34af2f9a99e1e289ed83775a6598aTest
https://doi.org/10.1111/j.1085-9489.2006.00080.xTest -
3
المؤلفون: Laetitia Boutrand, Antoon Vandenberghe, Philippe Latour, Francine Claustrat, Michel Boucherat, Nicolas Lévy, Guy Chazot, Rafaëlle Bernard, Amandine Boyer
المصدر: Clinical Chemistry. 47:829-837
مصطلحات موضوعية: Genetics, education.field_of_study, Biochemistry (medical), Clinical Biochemistry, Population, Biology, Polymerase Chain Reaction, law.invention, Loss of heterozygosity, Charcot-Marie-Tooth Disease, Tandem Repeat Sequences, law, Genetic marker, Gene Duplication, Genotype, Gene duplication, Humans, Microsatellite, Electrophoresis, Polyacrylamide Gel, education, Myelin Proteins, Polymerase chain reaction, Chromosomes, Human, Pair 17, Southern blot
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5d44e961adc57e1ced5991837499170Test
https://doi.org/10.1093/clinchem/47.5.829Test -
4
المؤلفون: Nisrine Bissar-Tadmouri, Piraye Serdaroglu, Yesim Parman, L Boutrand, Feza Deymeer, Antoon Vandenberghe, Esra Battaloglu
المصدر: Clinical Genetics. 58:396-402
مصطلحات موضوعية: Genetics, education.field_of_study, Myelin protein zero, Point mutation, Locus (genetics), Biology, Frameshift mutation, Genotype, Gene duplication, Connexin 32, education, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cdea0c3e5853b6b95298dd650606b876Test
https://doi.org/10.1034/j.1399-0004.2000.580511.xTest -
5
المؤلفون: Francesco Palau, Merle Ruberg, Kaisa Silander, Antoon Vandenberghe, S. Tardieu, Ian P. Blair, Alexis Brice, Judith Lopes, Eric LeGuern
المصدر: Publons
مصطلحات موضوعية: Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, DNA Repair, DNA damage, DNA repair, Saccharomyces cerevisiae, Biology, chemistry.chemical_compound, Charcot-Marie-Tooth Disease, Genetics, Humans, Gene conversion, Molecular Biology, Genetics (clinical), Recombination, Genetic, Models, Genetic, DNA, General Medicine, Gene rearrangement, Double Strand Break Repair, chemistry, DNA mismatch repair, Hereditary Sensory and Motor Neuropathy, Chromosomes, Human, Pair 17, DNA Damage, Heteroduplex
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8303a7f782f896cd2719e86d2dc2d34Test
https://doi.org/10.1093/hmg/8.12.2285Test -
6
المؤلفون: I Bernard, Alain Lagueny, A. Vital, Antoon Vandenberghe, G Le Masson, Yusuf A. Rajabally, Xavier Ferrer, Philippe Latour, Jean Julien, Claude Vital
المصدر: Neuromuscular Disorders. 9:361-367
مصطلحات موضوعية: Adult, Male, Restriction Mapping, Peripheral myelin, Biology, Gene mutation, medicine.disease_cause, Myelin, Nerve Fibers, Charcot-Marie-Tooth Disease, Peripheral nerve, Extracellular, medicine, Humans, Point Mutation, Peripheral Nerves, Muscle, Skeletal, Myelin Sheath, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Genetics, Mutation, Chromosome Mapping, Exons, Middle Aged, Phenotype, Pedigree, Molecular analysis, medicine.anatomical_structure, Amino Acid Substitution, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Myelin P0 Protein, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39af762c45bb17f2a88c5a2a5e1e2afcTest
https://doi.org/10.1016/s0960-8966Test(99)00031-0 -
7
المؤلفون: Ahmed Bouhouche, Mohamed Yahyaoui, T. Chkili, Antoon Vandenberghe, Nazha Birouk, Angélique Mularoni, Djamal Grid, Johann Tassin, Ali Benomar, Alexis Brice, Eric LeGuern, Farid Meggouh
المساهمون: Other departments
المصدر: American journal of human genetics, 65(3), 722-727. Cell Press
مصطلحات موضوعية: Adult, Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Locus (genetics), Genes, Recessive, Genetic mapping, Consanguinity, Biology, Charcot-Marie-Tooth disease, P0 gene, Genetic determinism, Gene mapping, Autosomal recessive form, Genetics, Humans, Genetics(clinical), Age of Onset, Child, Chromosomes, Artificial, Yeast, Genetics (clinical), Recombination, Genetic, Haplotype, Homozygote, Axonal form, Chromosome, Chromosome Mapping, Middle Aged, Axons, Pedigree, Morocco, Haplotypes, Genetic marker, Chromosomes, Human, Pair 1, Chromosome 1q21.2-q21.3, Female, Age of onset, Lod Score, Myelin P0 Protein, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28df11cb04624edf0cbea80cff137fbaTest
-
8
المؤلفون: Antoon Vandenberghe, Alain Lachaux, Michèle Accominotti, Muriel Bost
المصدر: The Journal of Trace Elements in Experimental Medicine. 12:321-329
مصطلحات موضوعية: Genetics, Haplotype, Locus (genetics), Single-strand conformation polymorphism, Biology, Chronic liver disease, medicine.disease, Biochemistry, Molecular biology, Exon, medicine, Polymorphic Microsatellite Marker, Missense mutation, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dbea9b145fe06a82288d44a923ccb6a2Test
https://doi.org/10.1002Test/(sici)1520-670x(1999)12:4<321::aid-jtra5>3.0.co;2-y -
9
المؤلفون: Christine Bonnebouche, Antoon Vandenberghe, Emmanuel Corbillon, Danielle Pham-Dinh, André Dautigny, Philippe Latour, Françoise Blanquet-Grossard, Guy Chazot
المصدر: Clinical Genetics. 48:281-283
مصطلحات موضوعية: chemistry.chemical_classification, Silent mutation, Genetics, Mutation, Point mutation, Biology, medicine.disease_cause, Amino acid, Serine, Exon, Myelin, medicine.anatomical_structure, chemistry, medicine, Missense mutation, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::621880a2ca6f4b1e2d7ae11f66ba41ccTest
https://doi.org/10.1111/j.1399-0004.1995.tb04109.xTest -
10
المؤلفون: Merle Ruberg, Alexis Brice, N. Ravisé, Victor Ionasescu, Michelle Mayer, Nobutada Tachi, Philippe Latour, Antoon Vandenberghe, Francisco Palau, Nicholas W. Wood, Pierre Bouche, Judith Lopes, Eric LeGuern, Nicolas Lévy
المصدر: Human Molecular Genetics. 7:141-148
مصطلحات موضوعية: Genetics, Breakpoint, General Medicine, Gene rearrangement, Biology, Chromosome 17 (human), Meiosis, Gene mapping, Gene duplication, Homologous recombination, Molecular Biology, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b45cccff9890b350e6ddc476abaf17e0Test
https://doi.org/10.1093/hmg/7.1.141Test