المؤلفون: Anne Bergeron, Paul Guertin, Jean-Stéphane Varré, Samuel Blanquart, Amandine Perrin, Krister M. Swenson

المساهمون: Bioinformatics and Sequence Analysis (BONSAI), Centre National de la Recherche Scientifique (CNRS)-Centre de Recherche en Informatique, Signal et Automatique de Lille - UMR 9189 (CRIStAL), Centrale Lille-Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Centrale Lille-Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Université de Lille, Sciences et Technologies-Inria Lille - Nord Europe, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Centre de Recherche en Informatique, Signal et Automatique de Lille - UMR 9189 (CRIStAL), Centrale Lille-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Laboratoire de combinatoire et d'informatique mathématique [Montréal] (LaCIM), Centre de Recherches Mathématiques [Montréal] (CRM), Université de Montréal (UdeM)-Université de Montréal (UdeM)-Université du Québec à Montréal = University of Québec in Montréal (UQAM), Collège André-Grasset [Montréal], Hub Bioinformatique et Biostatistique - Bioinformatics and Biostatistics HUB, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Génomique évolutive des Microbes / Microbial Evolutionary Genomics, Laboratoire d'Informatique de Robotique et de Microélectronique de Montpellier (LIRMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Institut de Biologie Computationnelle (IBC), Institut National de Recherche en Informatique et en Automatique (Inria)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), AB is partially supported by Canada NSERC Grant number 05729-2014, and by Équipes associées Inria-FRQNT Grant number 188128. This research is supported by the Inria Associate Team program.Inria associated team CG-ALCODE (2014-2016), Université de Lille, Sciences et Technologies-Inria Lille - Nord Europe, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Centre de Recherche en Informatique, Signal et Automatique de Lille - UMR 9189 (CRIStAL), Centrale Lille-Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Centrale Lille-Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: BMC Genomics
BMC Genomics, BioMed Central, 2016, Proceedings of the 14th Annual Research in Computational Molecular Biology (RECOMB) Comparative Genomics Satellite Workshop: genomics, 17 (Suppl 10), pp.786. ⟨10.1186/s12864-016-3103-6⟩
BMC Genomics, Vol 17, Iss S10, Pp 157-164 (2016)
BMC Genomics, 2016, Proceedings of the 14th Annual Research in Computational Molecular Biology (RECOMB) Comparative Genomics Satellite Workshop: genomics, 17 (Suppl 10), pp.786. ⟨10.1186/s12864-016-3103-6⟩

مصطلحات موضوعية: 0301 basic medicine, Eukaryotes, Proteomics, Genome, Transcriptome, MESH: RNA / metabolism, Mice, MESH: Proteins / chemistry, Protein Isoforms, MESH: Animals, Splicing orthologs, Genetics, MESH: Transcriptome, MESH: Alternative Splicing, MESH: Proteins / metabolism, Exons, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], RNA splicing, Transcriptome prediction, DNA microarray, MESH: RNA / chemistry, Algorithms, MESH: RNA / genetics, Biotechnology, MESH: Computational Biology, Gene isoform, lcsh:QH426-470, lcsh:Biotechnology, MESH: Protein Isoforms / genetics, Computational biology, Biology, MESH: Protein Isoforms / metabolism, 03 medical and health sciences, lcsh:TP248.13-248.65, MESH: Proteins / genetics, Animals, Humans, Gene, MESH: Mice, MESH: Protein Isoforms / chemistry, MESH: Humans, Alternative splicing, Computational Biology, Proteins, Alternative Splicing, lcsh:Genetics, 030104 developmental biology, MESH: Algorithms, RNA, MESH: Exons

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07ff4b687c4cc8ff1a3f89934888a731
https://hal.inria.fr/hal-01396410

المؤلفون: Bouchlaka, Chiraz, Abdelhak, Sonia, Amouri, Ahlem, Ben Abid, Hela, Hadiji, Sondes, Frikha, Mounir, Ben Othman, Tarek, Amri, Fethi, Ayadi, Hammadi, Hachicha, Mongia, Rebaï, Ahmed, Saad, Ali, Dellagi, Koussay, Group, Tunisian Fanconi Anemia Study

المساهمون: Laboratoire d'Immunopathologie, Vaccinologie et Génétique Moléculaire (LVGM), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Hôpital Universitaire Aziza Othmana [Tunis], Hedi Chaker Hospital [Sfax], Hopital Habib Bourguiba - Habib Bourguiba Hospital [Sfax], Centre National de Greffe de la Moëlle osseuse Tunis (CNGMO), Hôpital de Kairouan, Faculté de médecine - Faculty of Medicine [Sfax, Tunisie] (FMS), Université de Sfax - University of Sfax, Centre de Biotechnologie de Sfax (CBS), CHU Farhat Hached [Sousse], This work was supported by founds from the Tunisian State Secretariat for Scientific and Technological Research., We acknowledge the participation to this investigation of other members of the Tunisian Fanconi Anemia Study Group, namely Dr. L. Aissaoui, Dr. R. Belakhal, Dr. Z. Belhaj Ali, Dr. B. Meddeb, Dr. A. Hafsia, Dr. M. Elloumi, Dr. F. Fakhfakh PhD, Dr. A. Abdelkafi, Dr. L. Tordjman, Dr. F. Mellouli, Dr. S. Ladeb, Dr. A. Ben Abdeladhim, Dr. H. Sennana, Dr. H. Elghezal, Dr. H. Elomri, Dr. A. Laatiri, Dr. A. Khelif, Dr. S. Ennabli, and Dr. M. Trudi. We thank N. Labbane, S. Chakroun, and M. Ben Fadhel, for their technical assistance. We gratefully acknowledge patients and their families for their participation in this study. We thank Hans Joenje for fruitful discussion

المصدر: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2003, 48 (7), pp.352--361. ⟨10.1007/s10038-003-0037-z⟩

مصطلحات موضوعية: Male, MESH: Sequence Analysis, DNA, Time Factors, MESH: Introns, Genetic Linkage, DNA Mutational Analysis, MESH: Base Sequence, MESH: Genetic Markers, MESH: Genotype, FANCE, FANCF, Fanconi anemia, FANCG, hemic and lymphatic diseases, MESH: DNA, Complementary/metabolism, MESH: DNA Mutational Analysis, Genetics (clinical), Genetics, Fanconi Anemia Complementation Group A Protein, Homozygote, Chromosome Mapping, Exons, Disease gene identification, DNA-Binding Proteins, Phenotype, MESH: DNA-Binding Proteins, Female, MESH: Homozygote, Genetic Markers, MESH: Fanconi Anemia/genetics, Fanconi anemia, complementation group C, DNA, Complementary, Genotype, Molecular Sequence Data, MESH: Genetic Linkage, Biology, MESH: Phenotype, MESH: Polymorphism, Genetic, FANCD2, medicine, MESH: Fanconi Anemia Complementation Group A Protein, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Alleles, Family Health, MESH: Humans, MESH: Molecular Sequence Data, Polymorphism, Genetic, Base Sequence, MESH: Alleles, MESH: Time Factors, Proteins, MESH: Haplotypes, Sequence Analysis, DNA, medicine.disease, Molecular biology, MESH: Male, FANCA, Introns, Fanconi Anemia, MESH: Lod Score, MESH: Proteins/genetics, Haplotypes, MESH: Gene Deletion, Mutation, MESH: Mutation, MESH: Family Health, MESH: Microsatellite Repeats, Lod Score, MESH: Chromosome Mapping, MESH: Exons, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Gene Deletion, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab079aff3119a761cb31f9cdee92312
https://pubmed.ncbi.nlm.nih.gov/12827451