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1
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 -
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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 -
3
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
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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: Laurette Morlé, Antoon Vandenberghe, Lionel Collet, Patrick Edery, Muriel Bozon, Jacqueline Godet, Philippe Latour, Nicole Alloisio, Henri Plauchu, Geneviève Lina-Granade
المصدر: Journal of Medical Genetics. 37:368-370
مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Hearing loss, Short Report, Connexin, Deafness, Biology, medicine.disease_cause, Connexins, Genetic determinism, Pathogenesis, Loss of heterozygosity, otorhinolaryngologic diseases, Genetics, medicine, Humans, Child, Gene, Genetics (clinical), Genes, Dominant, Mutation, Middle Aged, Pedigree, Connexin 26, Transmembrane domain, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58e2064ea35f3764e238f959d633770dTest
https://doi.org/10.1136/jmg.37.5.368Test -
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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: S Schaeffer, P Diraison, Françoise Chapon, Antoon Vandenberghe, Philippe Latour
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Short Report, Sural nerve, Biology, Central nervous system disease, Myelin, Degenerative disease, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Age of Onset, Nerve biopsy, medicine.diagnostic_test, Myelin protein zero, Anatomy, Middle Aged, medicine.disease, Axons, Pedigree, Psychiatry and Mental health, Microscopy, Electron, Peripheral neuropathy, medicine.anatomical_structure, Phenotype, Mutation, Surgery, Female, Neurology (clinical), Age of onset, Myelin P0 Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64ba8e7358c055114ceccdf981947e31Test
https://europepmc.org/articles/PMC1736388Test/ -
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المؤلفون: C. Vial, Antoon Vandenberghe, J. M. Warter, C. Bonnebouche, Pierre-Marie Gonnaud, B. Bady, A. S. Brechard, V. Fourbil, C. Tranchant, Guy Chazot, Franck Sturtz
المصدر: Acta neurologica Scandinavica. 92(4)
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Adolescent, Genotype, Asymptomatic, Paralysis, medicine, Humans, Point Mutation, Allele, Genotyping, Alleles, Ulnar Nerve, Palsy, business.industry, Point mutation, Peroneal Nerve, General Medicine, DNA, Middle Aged, medicine.disease, Dermatology, Median Nerve, Neurology, Mutagenesis, Female, Neurology (clinical), medicine.symptom, Chromosome Deletion, Tibial Nerve, business, Hereditary Sensory and Motor Neuropathy, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba75f66a17e7081c34a569f73ae7c6cbTest
https://pubmed.ncbi.nlm.nih.gov/8848937Test -
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المؤلفون: Feza Deymeer, Nisrine Bissar-Tadmouri, Yesim Gulsen-Parman, Piraye Serdaroglu, Esra Battaloglu, Antoon Vandenberghe, Philippe Latour
المصدر: Human Mutation. 14:449-449
مصطلحات موضوعية: Adult, Male, Turkey, Turkish, Molecular Sequence Data, Mutation, Missense, Biology, Type (biology), Charcot-Marie-Tooth Disease, Genetics, Humans, Point Mutation, Coding region, Amino Acid Sequence, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Base Sequence, Myelin protein zero, Sequence Analysis, DNA, Middle Aged, language.human_language, Mutagenesis, Insertional, Amino Acid Substitution, Chromosomes, Human, Pair 1, language, Female, Chromosome Deletion, Myelin P0 Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cb128b405745999000445f2d279c49aTest
https://doi.org/10.1002Test/(sici)1098-1004(199911)14:5<449::aid-humu17>3.0.co;2-h