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المؤلفون: Alain Sarasin, Simone Benhamou
المصدر: American Journal of Epidemiology. 161:1-14
مصطلحات موضوعية: Genetics, Lung Neoplasms, Polymorphism, Genetic, Xeroderma pigmentosum, Genotype, Epidemiology, Haplotype, DNA Helicases, Exons, Biology, medicine.disease, DNA-Binding Proteins, Cancer research, medicine, Humans, ERCC2, Genetic Predisposition to Disease, Lung cancer, Genotyping Techniques, Transcription Factors, Xeroderma Pigmentosum Group D Protein, Nucleotide excision repair, Genetic association
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e63c99732919473992d5a9d4242a4975Test
https://doi.org/10.1093/aje/kwi018Test -
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المؤلفون: Alain Sarasin, Apuã C.M. Paquola, Renata M. A. Costa, Lydia Riou, Carlos Frederico Martins Menck
المصدر: Oncogene. 24:1359-1374
مصطلحات موضوعية: Cancer Research, Xeroderma pigmentosum, DNA Repair, Transcription, Genetic, Ultraviolet Rays, DNA repair, Trichothiodystrophy, Down-Regulation, Biology, Transfection, medicine.disease_cause, Cell Line, Neoplasms, Genetics, medicine, Humans, Allele, Cockayne Syndrome, Molecular Biology, Alleles, Oligonucleotide Array Sequence Analysis, Xeroderma Pigmentosum, Gene Expression Profiling, DNA Helicases, Syndrome, Fibroblasts, Cell cycle, medicine.disease, Isogenic human disease models, Molecular biology, Up-Regulation, DNA-Binding Proteins, Mutation, Hair Diseases, Carcinogenesis, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c58cbe92010a6d4bbcb6d6de777598fTest
https://doi.org/10.1038/sj.onc.1208288Test -
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المؤلفون: Simone Benhamou, Alain Sarasin
المصدر: Mutagenesis. 17:463-469
مصطلحات موضوعية: Skin Neoplasms, Xeroderma pigmentosum, DNA Repair, DNA repair, Health, Toxicology and Mutagenesis, Population, Single-nucleotide polymorphism, Biology, Toxicology, Polymorphism, Single Nucleotide, Exon, Risk Factors, Neoplasms, Genetics, medicine, Humans, education, Gene, Genetics (clinical), Xeroderma Pigmentosum Group D Protein, Xeroderma Pigmentosum, education.field_of_study, Polymorphism, Genetic, Models, Genetic, Smoking, DNA Helicases, Proteins, Cancer, medicine.disease, DNA-Binding Proteins, Mutation, ERCC2, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::452857a81861a2b0beb08791af377a5dTest
https://doi.org/10.1093/mutage/17.6.463Test -
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المؤلفون: Anne Stary, Alain Sarasin, Osamu Nikaido, Mauro Mezzina, Lin Zeng, Alain Taieb, Lydia Riou, Odile Chevallier-Lagente, Geert Weeda
المساهمون: Molecular Genetics
المصدر: Human Molecular Genetics, 8(6), 1125-1133. Oxford University Press
مصطلحات موضوعية: Male, DNA, Complementary, Xeroderma pigmentosum, DNA Repair, Ultraviolet Rays, DNA repair, Recombinant Fusion Proteins, Trichothiodystrophy, Biology, Transfection, medicine.disease_cause, Cockayne syndrome, Genetics, medicine, Humans, Child, Cockayne Syndrome, Molecular Biology, Gene, Genetics (clinical), Cell Line, Transformed, Xeroderma Pigmentosum, Mutation, DNA Helicases, DNA, General Medicine, Middle Aged, medicine.disease, Molecular biology, DNA-Binding Proteins, Gene Expression Regulation, Pyrimidine Dimers, Child, Preschool, Transcription factor II H, Hair Diseases, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11fa342c74773d11cce7fb4f217de4ecTest
https://doi.org/10.1093/hmg/8.6.1125Test -
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المؤلفون: Hélène Dollfus, Victoria Murday, Pierre Sarda, E. Raffo, Patrick Edery, Alain Sarasin, Jacqueline Vigneron, D. Gubser-Mercati, Andrew R. Gennery, Karen Fieggen, Vincent Laugel, Valérie Drouin-Garraud, F. Sauvanaud, Dominique Martin-Coignard, Hubert Journel, Louise Brueton, John Tolmie, Marie-Claire Vincent, Alan R. Lehmann, Delphine Héron, Benoît Funalot, Stanislas Lyonnet, D. Pham, Jean-Marc Egly, Mustafa A. Salih, Sylvie Odent, U. Kristensen, E. Muñoz, Agnès Bloch-Zupan, Heather Fawcett, Edward S. Tobias, J. Sanchez del Pozo, Blanca Gener, Brigitte Chabrol, Lina M. Ramos, M. Durand, Cecile Dalloz, Zornitza Stark, K. Prescott, Laurent Pasquier, Mehrdad Noruzinia, Valérie Cormier-Daire
المساهمون: Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de diagnostic génétique, CHU Strasbourg, Laboratoire de génétique moléculaire et génomique médicale [CHU Rennes], CHU Pontchaillou [Rennes], Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Medical Genetics, Hospital de Cruces, Division of Developmental Medicine, Royal Hospital for Sick Children, Service de génétique, Centre Hospitalier Le Mans (CH Le Mans), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, Service de Pédiatrie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Consultation de Génétique, Neurologie Pédiatrique, Hôpital neuchâtelois, Service de Neurologie [CHU Limoges], CHU Limoges, Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Department of Clinical Genetics, Birmingham Women's Hospital, Centro de Biología Molecular Severo Ochoa [Madrid] (CBMSO), Universidad Autónoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), Department Neurology, Hospital Clinic, Department of Pediatrics, Newcastle General Hospital, Division of Pediatric Neurology, King Saud University [Riyadh] (KSU), Department of Hematology, Tarbiat Modares University [Tehran], St James's University Hospital, Pediatric Hospital, Genetic Health Services Victoria, Groote Schuur and Red Cross Children's Hospital, Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Unité de Génétique Médicale et Foetopathologie, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de Génétique, Hospices Civils de Lyon (HCL), Reference Centre for Oral Manifestations of Rare Diseases, Hôpitaux Universitaires de Strasbourg, Centre for Genome Damage and Stability, University of Sussex, Génomes et cancer (GC (FRE2939)), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et biologie moléculaire et cellulaire ( IGBMC ), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire de Génétique Moléculaire et Hormonologie, Hôpital Pontchaillou, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], CH Le Mans, CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], Centre Hospitalier Bretagne Atlantique-Hôpital Chubert, Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Biomolécules Thérapies anti-tumorales ( EA4021 ), Université de Limoges ( UNILIM ) -Génomique, Environnement, Immunité, Santé, Thérapeutique ( GEIST FR CNRS 3503 ), Centro de Biología Molecular Severo Ochoa ( CBMSO ), Universidad Autonoma de Madrid ( UAM ) -Consejo Superior de Investigaciones Científicas [Spain] ( CSIC ), King Saud University [Riyadh] ( KSU ), Tarbiat Modares University, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ) -Hôpital Arnaud de Villeneuve, Hospices Civils de Lyon ( HCL ), Génomes et cancer ( GC (FRE2939) ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universidad Autonoma de Madrid (UAM)-Consejo Superior de Investigaciones Científicas [Madrid] (CSIC), De Villemeur, Hervé
المصدر: Human Mutation
Human Mutation, 2010, 31 (2), pp.113-26. ⟨10.1002/humu.21154⟩
Human Mutation, Wiley, 2010, 31 (2), pp.113-26. 〈10.1002/humu.21154〉
Human Mutation, Wiley, 2010, 31 (2), pp.113-26. ⟨10.1002/humu.21154⟩مصطلحات موضوعية: Molecular Sequence Data, Prenatal diagnosis, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biology, medicine.disease_cause, Bioinformatics, Cockayne syndrome, 03 medical and health sciences, Structure-Activity Relationship, 0302 clinical medicine, [SDV.BDD] Life Sciences [q-bio]/Development Biology, Databases, Genetic, Genetics, medicine, Missense mutation, Coding region, Humans, Amino Acid Sequence, [ SDV.BDD ] Life Sciences [q-bio]/Development Biology, Cockayne Syndrome, Poly-ADP-Ribose Binding Proteins, Gene, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, Polymorphism, Genetic, DNA Helicases, medicine.disease, 3. Good health, ERCC8, DNA Repair Enzymes, ERCC6, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, Sequence Alignment, 030217 neurology & neurosurgery, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::580207dd2444c2f96378e05a74ec87caTest
https://www.hal.inserm.fr/inserm-00436454Test -
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المؤلفون: Michel Renouil, Cecile Dalloz, Renier Vélez-Cruz, Vincent Laugel, Alain Sarasin, Alain Fourmaintraux, Hélène Dollfus, Isabelle Desguerre, Valérie Cormier-Daire, Anne Stary, Jean-Marc Egly
المساهمون: Etude des relations instabilité génétique et cancer ( ERIGC ), Centre National de la Recherche Scientifique ( CNRS ), Handicaps génétiques de l'enfant ( Inserm U393 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut de génétique et biologie moléculaire et cellulaire ( IGBMC ), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Génomes et cancer ( GC (FRE2939) ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Etude des relations instabilité génétique et cancer (ERIGC), Centre National de la Recherche Scientifique (CNRS), Handicaps génétiques de l'enfant (Inserm U393), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génomes et cancer (GC (FRE2939)), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2008, 16 (3), pp.320-7. 〈10.1038/sj.ejhg.5201991〉
European Journal of Human Genetics, Nature Publishing Group, 2008, 16 (3), pp.320-7. ⟨10.1038/sj.ejhg.5201991⟩مصطلحات موضوعية: Microcephaly, [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], DNA repair, Nonsense mutation, Biology, Polymerase Chain Reaction, Cockayne syndrome, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, medicine, Humans, RNA, Messenger, [ SDV.OT ] Life Sciences [q-bio]/Other [q-bio.OT], Cockayne Syndrome, Poly-ADP-Ribose Binding Proteins, Gene, Genetics (clinical), Sequence Deletion, 030304 developmental biology, 0303 health sciences, DNA Helicases, Infant, Newborn, Brain, Infant, medicine.disease, Magnetic Resonance Imaging, 3. Good health, Complementation, genomic DNA, DNA Repair Enzymes, Female, 030217 neurology & neurosurgery, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4855b54cd9fceaf7fe045f79a9d2a44Test
https://hal.archives-ouvertes.fr/hal-00281484Test -
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المؤلفون: Patrick Caussade, Hélène Dollfus, Alain Sarasin, Claude Speeg-Schatz, José Sahel, Jacques Flament, Edouard Grosshans, Fernanda Belga Ottoni Porto
المصدر: Survey of ophthalmology. 48(1)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Xeroderma pigmentosum, DNA Repair, DNA repair, DNA damage, Base Pair Mismatch, Trichothiodystrophy, Biology, Cockayne syndrome, medicine, Humans, Cockayne Syndrome, Genetics, Xeroderma Pigmentosum, Mental Disorders, DNA Helicases, nutritional and metabolic diseases, Ichthyosis, Eye Diseases, Hereditary, Base excision repair, medicine.disease, Ophthalmology, Cancer research, DNA mismatch repair, Hair Diseases, Nucleotide excision repair, DNA Damage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86a94360e0e7ec8753aaf5ddd3a49d0bTest
https://pubmed.ncbi.nlm.nih.gov/12559331Test -
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المؤلفون: Alain Sarasin, Peter Itin, Mark R. Pittelkow
المصدر: Journal of the American Academy of Dermatology. 44(6)
مصطلحات موضوعية: Xeroderma pigmentosum, DNA repair, Ultraviolet Rays, Trichothiodystrophy, Dermatology, Biology, Skin Diseases, Cockayne syndrome, Mice, medicine, Animals, Humans, Point Mutation, Gene, Xeroderma Pigmentosum Group D Protein, Genetics, Mice, Knockout, DNA Helicases, Proteins, Syndrome, medicine.disease, DNA-Binding Proteins, Transcription Factor TFIIH, Gene Expression Regulation, Hair Disorder, Face, Sulfur, Nucleotide excision repair, DNA Damage, Hair, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92da4b554081847fbfe323f55f13e14cTest
https://pubmed.ncbi.nlm.nih.gov/11369901Test -
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المصدر: ResearcherID
مصطلحات موضوعية: Cell Extracts, DNA Replication, DNA polymerase, Ultraviolet Rays, DNA polymerase II, Antigens, Polyomavirus Transforming, Pyrimidinones, In Vitro Techniques, Toxicology, Control of chromosome duplication, Genetics, Humans, Electrophoresis, Gel, Two-Dimensional, Molecular Biology, biology, DNA replication, DNA Helicases, DNA, Molecular biology, DnaA, Prokaryotic DNA replication, Pyrimidine Dimers, biology.protein, Replisome, Primase, Dimerization, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa14538e288b384dc65972d5b010043fTest
https://pubmed.ncbi.nlm.nih.gov/10677680Test -
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المؤلفون: Régis Calvayrac, Monique Vuillaume, Xavier Quilliet, Mauro Mezzina, Alain Sarasin, Odile Chevallier-Lagente, Lin Zeng
المصدر: Mutation research. 385(3)
مصطلحات موضوعية: Xeroderma pigmentosum, DNA, Complementary, DNA Repair, DNA damage, DNA repair, Ultraviolet Rays, Biology, Toxicology, Transduction, Genetic, Genetics, medicine, Neoplasm, Humans, Molecular Biology, Cells, Cultured, Xeroderma Pigmentosum Group D Protein, Xeroderma Pigmentosum, Reduced catalase activity, Genetic transfer, Genetic Complementation Test, DNA Helicases, Proteins, DNA, Fibroblasts, medicine.disease, Catalase, Molecular biology, DNA-Binding Proteins, Retroviridae, Biochemistry, ERCC2, Reactive Oxygen Species, NADP, Nucleotide excision repair, DNA Damage, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7df0f588f7ab1b13c03159bcdf610c3eTest
https://pubmed.ncbi.nlm.nih.gov/9506892Test