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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
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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: Alain Sarasin, Endre Anderssen, Valerie Gaborieau, Simone Benhamou, Andres Metspalu, Maiken Bratt Elvestad, John R. McLaughlin, Mark Lathrop, Hans E. Krokan, Marie-Claude Babron, Kristjan Välk, Tõnu Vooder, Rayjean J. Hung, Rémi Kazma, Emmanuelle Génin, John K. Field, Frank Skorpen, Paul Brennan
المصدر: Carcinogenesis. 33:1059-1064
مصطلحات موضوعية: Adult, Male, Cancer Research, Lung Neoplasms, DNA Repair, DNA polymerase, DNA repair, Adenocarcinoma of Lung, Cell Cycle Proteins, Single-nucleotide polymorphism, Genome-wide association study, Adenocarcinoma, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, medicine, Humans, Genetic Predisposition to Disease, Gene, Cancer Biomarkers and Molecular Epidemiology, 030304 developmental biology, Genetics, 0303 health sciences, biology, Smoking, Cancer, General Medicine, Middle Aged, medicine.disease, 3. Good health, Chromatin, Case-Control Studies, 030220 oncology & carcinogenesis, Carcinoma, Squamous Cell, biology.protein, Female, Homologous recombination, Genome-Wide Association Study, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fd387b14a296d3f2feef6cb6d4d25cbTest
https://doi.org/10.1093/carcin/bgs116Test -
6
المؤلفون: Elena Botta, Tiziana Nardo, Anja Raams, Judith Offman, Daniela Sansone, Wim J. Kleijer, Alain Sarasin, Nicolaas G. J. Jaspers, Giovanna Zambruno, Alan R. Lehmann, Paolo Balestri, Miria Stefanini, Roberta Ricotti
المساهمون: Molecular Genetics, Clinical Genetics
المصدر: Human Mutation, 28(1), 92-96. Wiley-Liss Inc.
مصطلحات موضوعية: Premature aging, Adult, Male, Adolescent, Genotype, DNA repair, Ultraviolet Rays, DNA Mutational Analysis, Trichothiodystrophy, Biology, Compound heterozygosity, Nail Diseases, Intellectual Disability, Genetics, medicine, Claudin-3, Humans, Genetic Testing, Child, Genetics (clinical), Cells, Cultured, Genetic heterogeneity, Ichthyosis, Membrane Proteins, medicine.disease, Transcription Factor TFIIH, Phenotype, Child, Preschool, Mutation, Transcription factor II H, Female, Hair Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e66b67fdc077d851193c259ba4a1f33fTest
https://doi.org/10.1002/humu.20419Test -
7
المؤلفون: Simone Benhamou, James McKay, Alain Sarasin, Paul Brennan, Valerie Gaborieau, Rémi Kazma, Marie-Claude Babron
المصدر: Carcinogenesis. 35(7)
مصطلحات موضوعية: Male, Cancer Research, Alcohol Drinking, DNA Repair, DNA repair, Single-nucleotide polymorphism, Genome-wide association study, Biology, Genome, Polymorphism, Single Nucleotide, Exon, medicine, SNP, Humans, Gene, Aged, Genetics, Smoking, Cancer, General Medicine, Middle Aged, medicine.disease, Prognosis, Europe, DNA Repair Enzymes, Head and Neck Neoplasms, Case-Control Studies, Female, Follow-Up Studies, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::826f955ab618ea3d7d002f28b2753fafTest
https://pubmed.ncbi.nlm.nih.gov/24658182Test -
8
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 -
9
المؤلفون: Alain Sarasin, Tiziana Nardo, Veridiana Munford, Fernanda C. Cabral, Carlos Frederico Martins Menck, Clarissa Ribeiro Reily Rocha, Januário B. Cabral-Neto, Daniela T. Soltys, Miria Stefanini, Leticia K. Lerner, Tiago Antonio de Souza
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Male, Heterozygote, Xeroderma pigmentosum, Adolescent, DNA Repair, DNA repair, DNA damage, Cell Survival, Protein Conformation, Ultraviolet Rays, Molecular Sequence Data, Mutation, Missense, Biology, medicine.disease_cause, Cockayne syndrome, Cell Line, Young Adult, Genotype, Genetics, medicine, Humans, Amino Acid Sequence, Cloning, Molecular, Cockayne Syndrome, Gene, Genetics (clinical), Alleles, Mutation, Xeroderma Pigmentosum, Nuclear Proteins, MICROBIOLOGIA, Sequence Analysis, DNA, Fibroblasts, medicine.disease, Endonucleases, Molecular biology, DNA-Binding Proteins, Oxidative Stress, Phenotype, Female, Sequence Alignment, Brazil, Nucleotide excision repair, DNA Damage, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::074273beee3a518622375203fb9573ecTest
https://pubmed.ncbi.nlm.nih.gov/23255472Test -
10
المؤلفون: Muriel Cario-André, Didier Lacombe, Hamid Reza Rezvani, Alain Taieb, Fanny Morice-Picard, Alain Sarasin
المصدر: American journal of medical genetics. Part A. (9)
مصطلحات موضوعية: Adult, Male, Adolescent, DNA Repair, Genotype, DNA repair, Hyperkeratosis, Trichothiodystrophy, Biology, Bioinformatics, Young Adult, Congenital ichthyosis, Genetics, medicine, Humans, Trichothiodystrophy Syndromes, Child, Genetics (clinical), Skin, Ichthyosis, medicine.disease, Dyskeratosis, Phenotype, Dysplasia, Mutation, Transcription factor II H, Transcription Factor TFIIH, Hair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9773f151caaa99bbd63f3e820120267Test
https://pubmed.ncbi.nlm.nih.gov/19681155Test