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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: P Clavelou, M Paret, Elisabeth Ollagnon, Nicolas Lévy, R Dumas, A Setiey, Antoon Vandenberghe, Guy Chazot, P Couratier, Michel Fontes, Françoise Chapon, M Boucherat, Jean-Michel Vallat, Jean Pouget, Philippe Latour
المصدر: neurogenetics. 1:117-123
مصطلحات موضوعية: Adult, Male, X Chromosome, Adolescent, Genetic Linkage, DNA Mutational Analysis, Population, Biology, medicine.disease_cause, Connexins, Cellular and Molecular Neuroscience, Charcot-Marie-Tooth Disease, Genetic linkage, Genetics, medicine, Humans, Point Mutation, Child, education, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Aged, Sequence Deletion, Family Health, education.field_of_study, Mutation, Point mutation, Single-strand conformation polymorphism, DNA, Middle Aged, Human genetics, Median Nerve, Pedigree, Amino Acid Substitution, CpG site, Female, France, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45258c3a582d309c819502dd4d64cd70Test
https://doi.org/10.1007/s100480050017Test -
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المؤلفون: Nathalie Roeckel, Blanquet F, André Dautigny, Marie Geneviève Mattei, Philippe Latour, Guy Chazot, Danielle Pham-Dinh, Antoon Vandenberghe, Fourbil Y
المصدر: Human Molecular Genetics. 2:2051-2054
مصطلحات موضوعية: Yeast artificial chromosome, congenital, hereditary, and neonatal diseases and abnormalities, Genetic Linkage, Cell Adhesion Molecules, Neuronal, Molecular Sequence Data, Restriction Mapping, Biology, Polymerase Chain Reaction, Myelin, Gene mapping, Charcot-Marie-Tooth Disease, Gene cluster, Leukocytes, Genetics, medicine, Humans, Amino Acid Sequence, Receptor, Chromosomes, Artificial, Yeast, Molecular Biology, Gene, Genetics (clinical), DNA Primers, Polymorphism, Genetic, Base Sequence, Genes, Immunoglobulin, Receptors, IgG, Nucleic acid sequence, Chromosome Mapping, Chromosome, Exons, General Medicine, medicine.anatomical_structure, Chromosomes, Human, Pair 1, Immunoglobulin G, Multigene Family, Myelin P0 Protein, Myelin Proteins, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::580850ffeeaf36639f3e3c0f999dfb92Test
https://doi.org/10.1093/hmg/2.12.2051Test -
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المؤلفون: J.J. Martin, John Hardy, Alison Goate, Martin N. Rossor, C. Van Broeckhoven, A. Hofman, Antoon Vandenberghe, C M van Duijn, Michael Mullan
المصدر: The British journal of psychiatry
Scopus-Elsevierمصطلحات موضوعية: Genetic Markers, Chromosomes, Human, Pair 21, Genetic Linkage, Genetic counseling, Population, Chromosome Disorders, Locus (genetics), Biology, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, Risk Factors, Genetic linkage, medicine, Humans, Early-onset Alzheimer's disease, 030212 general & internal medicine, Allele, education, Alleles, Aged, Genes, Dominant, Chromosome Aberrations, Genetics, education.field_of_study, Models, Genetic, Genetic Carrier Screening, Middle Aged, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Allelic heterogeneity, Age of onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c70ad08011c348c79b3f8050ef157e93Test
https://doi.org/10.1192/bjp.158.4.471Test -
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المؤلفون: Alain Lagueny, Pierre Louiset, Antoon Vandenberghe, Anne Vital, Xavier Ferrer, Marie‐Hélène Canron, Claude Vital, Klaus G. Petry, Philippe Latour, Cyril Goizet
المصدر: Journal of the peripheral nervous system : JPNS. 6(2)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, X Chromosome, Adolescent, Genotype, Genetic Linkage, DNA Mutational Analysis, Schwann cell, Cell Count, Biology, Connexins, Tooth disease, Myelin, Charcot-Marie-Tooth Disease, Biopsy, medicine, Humans, Axon, Nerve Tissue, Muscle, Skeletal, medicine.diagnostic_test, General Neuroscience, Superficial peroneal nerve, Anatomy, Axons, Pedigree, Microscopy, Electron, medicine.anatomical_structure, nervous system, Mutation, Ultrastructure, Female, Endoneurium, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d4c9d0a6b98230e41096256985025edTest
https://pubmed.ncbi.nlm.nih.gov/11446387Test -
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المصدر: Neurology. 52(5)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Pediatrics, X Chromosome, Hearing loss, Genetic Linkage, Nonsense mutation, Electromyography, Neurological disorder, Deafness, Asymptomatic, Connexins, Degenerative disease, Audiometry, Charcot-Marie-Tooth Disease, Medicine, Missense mutation, Humans, education, education.field_of_study, medicine.diagnostic_test, business.industry, medicine.disease, Pedigree, Mutation, Connexin 32, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e36d230154b833bd155309db4fa8f94Test
https://pubmed.ncbi.nlm.nih.gov/10102421Test -
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المؤلفون: Philippe Latour, Antoon Vandenberghe, André Dautigny, Emmanuel Corbillon, Jacques Battin, Catherine Ressot, Elizabeth Ollagnon, Françoise Serville, Franck Sturtz, Sylvie Duthel, Danielle Pham-Dinh, Françoise Blanquet-Grossard
المصدر: Human genetics. 98(2)
مصطلحات موضوعية: Male, X Chromosome, Genetic Linkage, Nonsense mutation, Biology, medicine.disease_cause, Diagnostic tools, Polymerase Chain Reaction, Connexins, Charcot-Marie-Tooth Disease, Genetics, medicine, Missense mutation, Coding region, Humans, Point Mutation, Amino Acid Sequence, Codon, Gene, Genetics (clinical), Polymorphism, Single-Stranded Conformational, Genes, Dominant, Mutation, Base Sequence, DNA, Human genetics, Pedigree, Codon, Nonsense, Female, X-linked dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59acb3d7f6ed0dd25dc93ed4a2594848Test
https://pubmed.ncbi.nlm.nih.gov/8698335Test -
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المؤلفون: Ronald J. Polinsky, B. O'Donnell, Leonard L. Heston, A. Haynes, L. Bergamini, G. De Winter, H Backhovens, J. F. Foncin, L. Connor, C. Van Broeckhoven, Richard H. Myers, David A. Drachman, Stefano F. Cappa, K. Abe, Luigi Amaducci, John Hardy, J. J. Martin, Lindsay A. Farrer, Antoon Vandenberghe, H. Karlinsky, Richard Mayeux, L. Pinessi, C. Ruiz, M. E. Percy, Rossella Tupler, J. Henry, D. R. Crapper McLachlan, Robert G. Feldman, Martin N. Rossor, M.P. Montesi, Daniel A. Pollen, P. Frommelt, M. Mortilla, P Roques, James F. Gusella, M. Fracarro, Jonathan L. Haines, Voskresenskaya Ni, L James, Michael Mullan, Paul C. Watkins, V. A. Fried, Linda Nee, P. St. George-Hyslop, J. M. Cantu, Amalia C. Bruni, N. Nacmias, Sandro Sorbi, G. Vaula, Robert Williamson, Innocenzo Rainero, Alison Goate, Gavrilova Si, John H. Growdon, M. Vartanian, M. J. Owen, G. Gei, Marianne James, Stephen S. Rich, Rudolph E. Tanzi, J. Swearer, Marc Bruyland, Harry T. Orr, M. E. Franco, Silvia Piacentini, J. Gheuens
المصدر: Nature
مصطلحات موضوعية: Genetic Markers, Genetics, Heterozygote, Multidisciplinary, Chromosomes, Human, Pair 21, Genetic Linkage, Genetic heterogeneity, Pedigree chart, Disease, Biology, medicine.disease, Pedigree, Gene mapping, Alzheimer Disease, Genetic marker, Genetic linkage, medicine, Humans, Lod Score, Alzheimer's disease, Chromosome 21, Engineering sciences. Technology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c81e757dca0d17ac30011aa71a54324Test
https://hdl.handle.net/10067/1434090151162165141Test -
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المؤلفون: Anita Wehnert, Peter Raeymaekers, Peter De Jonghe, Christine Van Broeckhoven, Jean-Jacques Martin, Antoon Vandenberghe, Jan Ghenens, Hubert Backhovens, Ludo Muylle
المصدر: Human Genetics. 81:231-233
مصطلحات موضوعية: Genetic Markers, Genetics, Genetic Linkage, Karyotype, Locus (genetics), Biology, Complete linkage, Chromosome Banding, Muscular Atrophy, Spinal, Gene mapping, Charcot-Marie-Tooth Disease, Chromosomes, Human, Pair 1, Genetic linkage, Genetic marker, Blood Group Antigens, Humans, Duffy Blood-Group System, Gene, Genetics (clinical), Sex linkage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89234c93a42d5de904b56ad54a801d31Test
https://doi.org/10.1007/bf00278994Test -
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المؤلفون: J. Gheuens, G. De Winter, H Backhovens, C. Van Broeckhoven, Antoon Vandenberghe, A. Wehnert, W. Van Hul, G. Van Camp, P Raeymaekers, Piet Stinissen
المصدر: Genetics and Alzheimer’s Disease ISBN: 9783642736490
Genetics and Alzheimers disease / Sinet, Pierre Marie [edit.]; et. alمصطلحات موضوعية: Genetics, Genetic marker, Genetic linkage, Haplotype, Locus (genetics), Pedigree chart, Human medicine, Biology, Chromosome 21, Gene, Complete linkage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7ab05c4841fe259bb932e41b8ba429bTest
https://doi.org/10.1007/978-3-642-73647-6_12Test