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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 -
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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 -
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المؤلفون: Xavier Ferrer, Anne Vital, Yusuf A. Rajabally, Alain Lagueny, Jean Julien, Antoon Vandenberghe, Philippe Latour, Claude Vital
المصدر: Journal of the Peripheral Nervous System. 5:158-162
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Biopsy, HIV Infections, Chronic inflammatory demyelinating polyneuropathy, Disease, Asymptomatic, Charcot-Marie-Tooth Disease, Gene duplication, Genetic predisposition, medicine, Humans, medicine.diagnostic_test, business.industry, General Neuroscience, Superficial peroneal nerve, Peroneal Nerve, medicine.disease, nervous system diseases, Chromosome 17 (human), Microscopy, Electron, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0e693cb4c2e5671e8d421fdad1f3261Test
https://doi.org/10.1046/j.1529-8027.2000.00014.xTest -
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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 -
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المؤلفون: Franck Sturtz, Guy Chazot, Antoon Vandenberghe, Cruz S, Mabin D, Philippe Latour, Mocquard Y, Fenoll B, LeFur Jm
المصدر: European Neurology. 38:26-30
مصطلحات موضوعية: Adult, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Neural Conduction, Motor nerve, Biology, Nerve conduction velocity, Central nervous system disease, Degenerative disease, Charcot-Marie-Tooth Disease, Gene duplication, medicine, Humans, Age of Onset, Child, Genetics, Homozygote, Heterozygote advantage, DNA, Anatomy, medicine.disease, Phenotype, Pedigree, Electrophysiology, Chromosome 17 (human), Scoliosis, Neurology, Multigene Family, Female, Neurology (clinical), Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f900f9fac1443a26c257bec7be0d45bTest
https://doi.org/10.1159/000112898Test -
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المؤلفون: G Chauplannaz, R Dumas, Michel Boucherat, Jean Pouget, A Laguenay, Antoon Vandenberghe, Guy Chazot, Philippe Latour, M. Bost, S. Duthel, Elisabeth Ollagnon, Françoise Chapon
المصدر: Clinical Chemistry. 42:1021-1025
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, biology, Biochemistry (medical), Clinical Biochemistry, Breakpoint, EcoRI, medicine.disease_cause, Chromosome 17 (human), Gene duplication, biology.protein, medicine, Restriction fragment length polymorphism, Repeated sequence, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::341f4d5b7f7a6a752a5add1649f93cddTest
https://doi.org/10.1093/clinchem/42.7.1021Test -
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المؤلفون: C. Bonnebouche, B. Bady, Guy Chazot, F. Chauvin, M. Bost, Philippe Latour, Franck Sturtz, E. Ollagnon-Roman, Antoon Vandenberghe, Pierre-Marie Gonnaud
المصدر: European Neurology. 36:224-228
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Motor nerve conduction velocity, Motor nerve, Anatomy, medicine.disease, Median nerve, Central nervous system disease, Chromosome 17 (human), Degenerative disease, Neurology, Peripheral nerve, Gene duplication, medicine, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0b4e889ac538f3b0fa8795145d82d18fTest
https://doi.org/10.1159/000117254Test -
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المؤلفون: Jan Posadka, Charles F. Towne, Pengfei Liu, Pavel Seeman, Mehrdad Khajavi, Antoon Vandenberghe, Lionel Van Maldergem, Marian A. J. Weterman, K.-H. Krause, Feng Zhang, Francesc Palau, James R. Lupski, Claudia Gonzaga-Jauregui, Vincent Timmerman, Bernd Rautenstrauss, Els De Vriendt, Sat Dev Batish, Frank Baas, Peter De Jonghe
المساهمون: ANS - Amsterdam Neuroscience, CCA -Cancer Center Amsterdam, Human Genetics, Neurology, Genome Analysis
المصدر: The American journal of human genetics
American journal of human genetics, 86(6), 892-903. Cell Pressمصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Non-allelic homologous recombination, Biology, Genome, Translocation, Genetic, Article, 03 medical and health sciences, Exon, 0302 clinical medicine, Missing heritability problem, Charcot-Marie-Tooth Disease, Gene Duplication, Gene duplication, Genetics, Humans, Paralysis, Genetics(clinical), Copy-number variation, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Comparative Genomic Hybridization, Breakpoint, 3. Good health, Human medicine, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, Gene Deletion, Myelin Proteins, Comparative genomic hybridization, Chromosomes, Human, Pair 17
وصف الملف: pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c09c5dce8003a20f88fb08cab7ddcd3bTest
https://pubmed.ncbi.nlm.nih.gov/20493460Test -
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المؤلفون: Nicole Philip, Philippe Latour, Perrine Malzac, Amandine Boyer, P. Negre, Rafaëlle Bernard, Antoon Vandenberghe, Nicolas Lévy
المصدر: European journal of human genetics : EJHG. 10(5)
مصطلحات موضوعية: Genetic Markers, Male, Pediatrics, medicine.medical_specialty, Genetic counseling, Prenatal diagnosis, Disease, Genetic Heterogeneity, Charcot-Marie-Tooth Disease, Pregnancy, Prenatal Diagnosis, Gene duplication, Genetics, medicine, Humans, Genetics (clinical), Fetus, business.industry, Genetic heterogeneity, medicine.disease, Charcot-Marie-Tooth Disease Type 1A, Pedigree, Fetal Diseases, Female, business, Gene Deletion, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a586e28087ad8108865355fad3fe17fcTest
https://pubmed.ncbi.nlm.nih.gov/12082504Test -
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المؤلفون: Christine Bonnebouche, P Diraison, Eva Nelis, Christine Van Broeckhoven, Danielle Pham-Dinh, Michel Boucherat, Françoise Blanquet, Antoon Vandenberghe, Guy Chazot, André Dautigny, Fraņoise Chapon, Philippe Latour, Elisabeth Ollagnon
المصدر: Human mutation
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Base Sequence, Point mutation, Myelin protein zero, DNA Mutational Analysis, Molecular Sequence Data, Chromosome, Biology, medicine.disease_cause, nervous system diseases, Charcot-Marie-Tooth Disease Type 1B, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Gene duplication, medicine, Humans, Point Mutation, Gene, Myelin P0 Protein, Genetics (clinical), Polymorphism, Single-Stranded Conformational
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1f8df2840742d190b36bca036dfb86eTest
https://pubmed.ncbi.nlm.nih.gov/7550231Test