-
1
المؤلفون: Alain Sarasin, Cécile Ged, Said Aoufouchi, Caroline Pouvelle, Armando M. De Palma, Marie-Anne Morren, Alain Taieb
المصدر: American Journal of Medical Genetics Part A. 173:2511-2516
مصطلحات موضوعية: Male, 0301 basic medicine, Skin Neoplasms, Xeroderma pigmentosum, Adolescent, DNA Repair, DNA polymerase, Sunburn, Somatic hypermutation, Pyrimidine dimer, DNA-Directed DNA Polymerase, medicine.disease_cause, Compound heterozygosity, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, medicine, Humans, Genetics (clinical), Polymerase, Xeroderma Pigmentosum, Mutation, biology, Fibroblasts, medicine.disease, Molecular biology, 030104 developmental biology, 030220 oncology & carcinogenesis, Sunlight, biology.protein, DNA Damage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::127a0f3490f57fef384a9976a815b303Test
https://doi.org/10.1002/ajmg.a.38340Test -
2
المؤلفون: Christel Thauvin, Marie Hélène Aubriot-Lorton, Nadège Gigot, Nathalie Marle, Bernard Aral, Laurence Duplomb, Alain Sarasin, Julien Thevenon, Valeria Naim, Jean-Baptiste Rivière, Jean Benoît Courcet, Pierre Vabres, Jamal Eddin Abrid, Mariam Tajir, Laurence Faivre, Emilie Courcet-Degrolard, Siham Chafai Elalaoui, Laurent Martin, Abdelaziz Sefiani, Yannis Duffourd
المصدر: European Journal of Human Genetics. 23:957-962
مصطلحات موضوعية: Adult, Male, Skin Neoplasms, DNA Mutational Analysis, Mutation, Missense, Genes, Recessive, Consanguinity, Biology, Article, Keratoderma, Palmoplantar, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Genetics (clinical), Pigmentation disorder, Skin, Family Health, Siblings, Tumor Suppressor Proteins, Homozygote, Genodermatosis, Sequence Analysis, DNA, Fibroblasts, medicine.disease, Disease gene identification, Hyperpigmentation, Pedigree, Palmoplantar keratoderma, Female, Skin cancer, medicine.symptom, Skin Carcinoma, Pigmentation Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::042aa74c156bf12442e735f85464d005Test
https://doi.org/10.1038/ejhg.2014.213Test -
3A genetic cluster of patients with variant xeroderma pigmentosum with two diferent founder mutations
المؤلفون: Alain Sarasin, L. M.S. Moura, Huma Asif, Carolina Quayle, F.I.A. Alves, Pedro A. F. Galante, J. B. Vilar, Ricardo Aparecido de Souto, Leticia K. Lerner, T.A. de Souza, Ligia Pereira Castro, Carlos Frederico Martins Menck, S.C. Chaibub, Anamaria A. Camargo, Susan Ienne, Sérgio D.J. Pena, R. Liboredo, André Passaglia Schuch, Veridiana Munford
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Heterozygote, Xeroderma pigmentosum, Skin Neoplasms, DNA repair, Dermatology, Gene mutation, Biology, medicine.disease_cause, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Tumor Cells, Cultured, Humans, Allele, Gene, Aged, Genetics, Aged, 80 and over, Mutation, Xeroderma Pigmentosum, GENÉTICA MICROBIANA, Homozygote, Middle Aged, medicine.disease, Molecular biology, Founder Effect, Pedigree, Europe, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, Brazil, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6528130994ecac021ff11df8f16a9e0eTest
-
4
المؤلفون: Emmanuelle Despras, Alain Sarasin, Jacques Armier, Nadem Soufir, Wei Yang, Christine Mateus, Caroline Pouvelle, Agnes Bourillon, Ludovic Martin, Caroline Robert, Patricia Kannouche, K. Opletalova
المصدر: Human Mutation. 35:117-128
مصطلحات موضوعية: Adult, Male, Models, Molecular, Skin Neoplasms, Xeroderma pigmentosum, DNA Repair, Genotype, Ultraviolet Rays, DNA polymerase, DNA repair, Mutation, Missense, DNA-Directed DNA Polymerase, Young Adult, Caffeine, Genetics, Carcinoma, medicine, Humans, Missense mutation, Melanoma, Gene, Cells, Cultured, Genetics (clinical), Aged, Retrospective Studies, Aged, 80 and over, Xeroderma Pigmentosum, biology, Protein Stability, Genetic Variation, Fibroblasts, Middle Aged, medicine.disease, Phenotype, Carcinoma, Basal Cell, Carcinoma, Squamous Cell, biology.protein, Female, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92d8d760102d5f5331120748c3ca8780Test
https://doi.org/10.1002/humu.22462Test -
5
المؤلفون: Nicolas Dupin, Nadem Soufir, Alain Sarasin, S. Regnier, Jean-Jacques Lacapère, M.-F. Avril, G. Hetet, D. Pham, Bernard Grandchamp, André Palangié, Agnes Bourillon, Isabelle Gorin, S. Jacobelli
المصدر: British Journal of Dermatology. 159:968-973
مصطلحات موضوعية: Skin Neoplasms, Xeroderma pigmentosum, DNA Repair, Mutation, Missense, Dermatology, Biology, Gene mutation, medicine.disease_cause, White People, Frameshift mutation, Neoplasms, Multiple Primary, Exon, medicine, Humans, Missense mutation, Survivors, Frameshift Mutation, Melanoma, Pigmentation disorder, Aged, 80 and over, Genetics, Xeroderma Pigmentosum, Mutation, medicine.disease, DNA-Binding Proteins, Phenotype, Cancer research, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca0d7813ca05d2cb6a73c1d059b513d7Test
https://doi.org/10.1111/j.1365-2133.2008.08791.xTest -
6
المؤلفون: J. J. Van Den Oord, Filippo Rosselli, Alain Spatz, Audrey Kauffmann, Philippe Dessen, Vladimir Lazar, V. Winnepenninckx, Alain Sarasin, A Mansuet-Lupo
المساهمون: Génomes et cancer (GC (FRE2939)), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Génétique Oncologique, Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR), Etude des relations instabilité génétique et cancer (ERIGC), Centre National de la Recherche Scientifique (CNRS)
المصدر: Oncogene
Oncogene, Nature Publishing Group, 2008, 27 (5), pp.565-73. ⟨10.1038/sj.onc.1210700⟩مصطلحات موضوعية: [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT], Cancer Research, Skin Neoplasms, DNA Repair, MESH: Melanoma, DNA repair, Biology, medicine.disease_cause, Metastasis, MESH: Gene Expression Profiling, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Melanoma, Molecular Biology, Gene, 030304 developmental biology, MESH: DNA Repair, 0303 health sciences, MESH: Humans, Gene Expression Profiling, MESH: Skin Neoplasms, DNA replication, Cancer, MESH: Gene Expression Regulation, Neoplastic, medicine.disease, 3. Good health, Gene Expression Regulation, Neoplastic, Gene expression profiling, Cell Transformation, Neoplastic, MESH: Cell Transformation, Neoplastic, 030220 oncology & carcinogenesis, Cancer research, Carcinogenesis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b9648ba6fe112ab1050f7c460e27fd6Test
https://doi.org/10.1038/sj.onc.1210700Test -
7
المؤلفون: Alain Sarasin, Leela Daya-Grosjean
المصدر: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 571:43-56
مصطلحات موضوعية: Patched, Xeroderma Pigmentosum, Neoplasms, Radiation-Induced, Skin Neoplasms, Xeroderma pigmentosum, integumentary system, Oncogene, Tumor suppressor gene, Ultraviolet Rays, DNA repair, Health, Toxicology and Mutagenesis, Oncogenes, Biology, medicine.disease, medicine.disease_cause, Mutation, Genetics, medicine, Cancer research, Humans, Genes, Tumor Suppressor, Carcinogenesis, Smoothened, Molecular Biology, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37175db285225464218a41f3e8eceb71Test
https://doi.org/10.1016/j.mrfmmm.2004.11.013Test -
8
المؤلفون: K. Mollier, Nicole Basset-Seguin, F.R. de Gruijl, Alain Sarasin, Leela Daya-Grosjean, Anny Fourtanier, Nadem Soufir, Emeric Roux, Sophie Queille
المصدر: Molecular Carcinogenesis. 39:195-198
مصطلحات موضوعية: Cancer Research, Neoplasms, Radiation-Induced, Skin Neoplasms, Ultraviolet Rays, DNA damage, Cell, Locus (genetics), Biology, medicine.disease_cause, Polymerase Chain Reaction, law.invention, Mice, Ink4a arf, law, Tumor Suppressor Protein p14ARF, medicine, Animals, Molecular Biology, Cyclin-Dependent Kinase Inhibitor p16, Polymorphism, Single-Stranded Conformational, Polymerase chain reaction, Genetics, Mice, Hairless, integumentary system, Genes, p16, medicine.disease, Molecular biology, Hairless, Pyrimidines, medicine.anatomical_structure, Mutation, Carcinoma, Squamous Cell, Tumor Suppressor Protein p53, Skin cancer, Carcinogenesis, Precancerous Conditions, DNA Damage
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::929be92b477e7fa88af0cbf67f31488cTest
https://doi.org/10.1002/mc.20004Test -
9
المؤلفون: Anne Stary, Ning Ye Zhou, Mohammed Bouziane, Timothy R. O'Connor, Steven E. Bates, Alain Sarasin
المصدر: Journal of molecular biology, vol 332, iss 2
مصطلحات موضوعية: p53, Biochemistry & Molecular Biology, DNA, Complementary, Skin Neoplasms, Xeroderma pigmentosum, DNA Repair, Pediatric Cancer, Ultraviolet Rays, DNA damage, DNA repair, Trichothiodystrophy, Pyrimidine dimer, Biology, medicine.disease_cause, Microbiology, Cell Line, Databases, Medicinal and Biomolecular Chemistry, ligation-mediated PCR, Rare Diseases, Structural Biology, Complementary, Genetics, medicine, Humans, Molecular Biology, Gene, Cancer, Pediatric, Xeroderma Pigmentosum, Mutation, Nucleic Acid, DNA, Exons, Genetic Therapy, Fibroblasts, nucleotide excision repair, Genes, p53, medicine.disease, Molecular biology, Genes, Pyrimidine Dimers, Biochemistry and Cell Biology, Databases, Nucleic Acid, Hair Diseases, DNA Damage, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adca93da876f80ff67cceddb1e3551f8Test
https://doi.org/10.1016/s0022-2836Test(03)00793-9 -
10
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