المؤلفون: Cacheux, W., Dangles-Marie, V., Rouleau, E., Lazartigues, J., Girard, E., Briaux, A., Mariani, P., Richon, S., Vacher, S., Buecher, B., Richard-Molard, M., Jeannot, E., Servant, N., Farkhondeh, F., Mariani, O., Rio-Frio, T., Roman, S.R., Mitry, E., Bieche, I., Lievre, A.

المساهمون: CRLCC René Huguenin (CRLCC René Huguenin), Hôpital René Huguenin Saint-Cloud, Institut Curie - Saint Cloud (ICSC)-Institut Curie - Saint Cloud (ICSC)-UNICANCER, Institut des sciences du Médicament -Toxicologie - Chimie - Environnement (IFR71), Institut de Recherche pour le Développement (IRD)-Ecole Nationale Supérieure de Chimie de Paris - Chimie ParisTech-PSL (ENSCP), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche de l'Institut Curie Paris, Institut Curie Paris, Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut Curie Paris -Institut National de la Santé et de la Recherche Médicale (INSERM), Morphogénèse et Signalisation Cellulaires, Institut Curie Paris -Centre National de la Recherche Scientifique (CNRS), Département de Recherche Translationnelle, Plateforme de sequencage ICGEX, Génétique, physiopathologie et approches thérapeutiques des maladies héréditaires du système nerveux (EA 7331), Université Paris Descartes - Paris 5 (UPD5), ANR-10-EQPX-0003,ICGex,Equipement de biologie intégrative du cancer pour une médecine personnalisée(2010), ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)

المصدر: ISSN: 1949-2553 ; Oncotarget ; https://univ-rennes.hal.science/hal-01717339 ; Oncotarget, 2018, 9 (1), pp.464-476. ⟨10.18632/oncotarget.23066⟩.

مصطلحات موضوعية: Somatic mutation, Whole exome sequencing, Signalling pathway, Anal squamous cell carcinoma, Copy number alteration, [SDV.CAN]Life Sciences [q-bio]/Cancer

Relation: info:eu-repo/semantics/altIdentifier/pmid/29416628; hal-01717339; https://univ-rennes.hal.science/hal-01717339; https://univ-rennes.hal.science/hal-01717339/document; https://univ-rennes.hal.science/hal-01717339/file/23066-325030-5-PB.pdf; PUBMED: 29416628

الاتاحة: https://univ-rennes.hal.science/hal-01717339
https://univ-rennes.hal.science/hal-01717339/document
https://univ-rennes.hal.science/hal-01717339/file/23066-325030-5-PB.pdf
https://doi.org/10.18632/oncotarget.23066

المؤلفون: Le Tourneau, C, Paoletti, X, Servant, N, Bièche, I, Gentien, D, Rio Frio, T, Vincent-Salomon, A, Servois, V, Romejon, J, Mariani, O, Bernard, V, Huppe, P, Pierron, G, Mulot, F, Callens, C, Wong, J, Mauborgne, C, Rouleau, E, Reyes, C, Henry, E, Leroy, Q, Gestraud, P, La Rosa, P, Escalup, L, Mitry, E, Trédan, O, Delord, J-P, Campone, M, Goncalves, A, Isambert, N, Gavoille, C, Kamal, M

المصدر: British Journal of Cancer ; volume 111, issue 1, page 17-24 ; ISSN 0007-0920 1532-1827

الاتاحة: http://dx.doi.org/10.1038/bjc.2014.211
http://www.nature.com/articles/bjc2014211.pdf
http://www.nature.com/articles/bjc2014211

المؤلفون: Pierga, J., Decraene, C., Bernard, V., Kamal, M., Blin, A., Rio Frio, T., Servant, N., Bidard, F.C., Paoletti, X., Stern, M., Lebofsky, R., Le Tourneau, C.

المصدر: Annals of Oncology ; volume 25, page iv546 ; ISSN 0923-7534

الاتاحة: http://dx.doi.org/10.1093/annonc/mdu358.2
https://api.elsevier.com/content/article/PII:S0923753419529842?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0923753419529842?httpAccept=text/plain
http://academic.oup.com/annonc/article-pdf/25/suppl_4/iv546/9692227/mdu358.2.pdf

المؤلفون: Le Tourneau, C., Kamal, M., Tredan, O., Gomez-Roca, C., Campone, M., Goncalves, A., Isambert, N., Gavoille, C., Gentien, D., Servant, N., Rio Frio, T., Paoletti, X.

مصطلحات موضوعية: Poster session 7. Clinical Studies - non-phase 1

وصف الملف: text/html

Relation: http://annonc.oxfordjournals.org/cgi/content/short/24/suppl_1/i36; http://dx.doi.org/10.1093/annonc/mdt049.1

الاتاحة: http://annonc.oxfordjournals.org/cgi/content/short/24/suppl_1/i36
https://doi.org/10.1093/annonc/mdt049.1

المؤلفون: Rio Frio, T., Panek, S., Iseli, C., Di Gioia, S.A., Kumar, A., Gal, A., Rivolta, C.

المصدر: Molecular Vision, vol. 15, pp. 2627-2633

مصطلحات موضوعية: Genetic Loci/genetics, Genetic Predisposition to Disease, High-Throughput Screening Assays/methods, Humans, Malate Dehydrogenase/genetics, Polymorphism, Single Nucleotide/genetics, Retinitis Pigmentosa/enzymology, Retinitis Pigmentosa/genetics, Sequence Analysis, DNA/methods

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/20011630; info:eu-repo/semantics/altIdentifier/pissn/1090-0535[electronic], 1090-0535[linking]; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_B92C111FABDE8; https://serval.unil.ch/notice/serval:BIB_B92C111FABDE; https://serval.unil.ch/resource/serval:BIB_B92C111FABDE.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_B92C111FABDE
https://serval.unil.ch/resource/serval:BIB_B92C111FABDE.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_B92C111FABDE8

المؤلفون: Rio Frio, T., Civic, N., Ransijn, A., Beckmann, J.S., Rivolta, C.

المصدر: Human Molecular Genetics, vol. 17, no. 20, pp. 3154-3165

مصطلحات موضوعية: Alleles, Cell Line, Transformed, Chromosome Mapping, Chromosomes, Human, Pair 14/genetics, Eye Proteins/genetics, Female, Gene Expression, Genes, Dominant, Humans, Male, Models, Genetic, Mutation, Pedigree, Penetrance, Quantitative Trait Loci, RNA, Messenger/genetics, Messenger/metabolism, Retinitis Pigmentosa/genetics, Retinitis Pigmentosa/metabolism

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/18640990; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_48769E580F236; https://serval.unil.ch/notice/serval:BIB_48769E580F23; https://serval.unil.ch/resource/serval:BIB_48769E580F23.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_48769E580F23
https://doi.org/10.1093/hmg/ddn212
https://serval.unil.ch/resource/serval:BIB_48769E580F23.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_48769E580F236

المؤلفون: Rio Frio, T, Lavoie, J, Hamel, N, Geyer, F, Kushner, Y, Novak, D, Wark, L, Capelli, C, Reis-Filho, J, Mai, S, Pastinen, T, Tischkowitz, MD, Marcus, V, Foulkes, W

Relation: https://ora.ox.ac.uk/objects/uuid:e649a5a5-8516-4dad-b5fa-928bb7ababbf; https://doi.org/10.1056/nejmoa1006565

الاتاحة: https://doi.org/10.1056/nejmoa1006565
https://ora.ox.ac.uk/objects/uuid:e649a5a5-8516-4dad-b5fa-928bb7ababbf

المؤلفون: Fernández-Sánchez, M.E., Barbier, S., Whitehead, J., Béalle, G., Michel, A., Latorre-Ossa, H., Rey, C., Fouassier, L., Claperon, A., Brullé, L., Girard, E., Servant, N., Rio-Frio, T., Marie, H., Lesieur, S., Housset, C., Gennisson, J.-L., Tanter, M., Ménager, C., Fre, S., Robine, S., Farge, E.

المصدر: European Journal of Cancer ; volume 61, page S3 ; ISSN 0959-8049

الاتاحة: http://dx.doi.org/10.1016/s0959-8049(16)61007-9
https://api.elsevier.com/content/article/PII:S0959804916610079?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0959804916610079?httpAccept=text/plain

المؤلفون: Le Tourneau, C., Kamal, M., Tredan, O., Gomez-Roca, C., Campone, M., Goncalves, A., Isambert, N., Gavoille, C., Gentien, D., Servant, N., Rio Frio, T., Paoletti, X., Diamond, J. R., Tan, A. C., Pitts, T. M., van Bokhoven, A., Aisner, D., Elias, A. D., Borges, V. F., Miller, K. D., Eckhardt, S. G., Tentler, J. J., Roussel, A., Berthe, A., Quereux, G., Dreno, B. R. I., Thomare, P.

المصدر: Annals of Oncology ; volume 24, issue suppl 1, page i36-i36 ; ISSN 0923-7534 1569-8041

الاتاحة: http://dx.doi.org/10.1093/annonc/mdt049
http://academic.oup.com/annonc/article-pdf/24/suppl_1/i36/6674625/mdt049.pdf

المؤلفون: Bahubeshi, A., Bal, N., Rio Frio, T., Hamel, N., Pouchet, C., Yilmaz, A., Bouron-Dal Soglio, D., Williams, G. M., Tischkowitz, M., Priest, J. R., Foulkes, W. D.

المصدر: Journal of Medical Genetics ; volume 47, issue 12, page 863-866 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.2010.081216
https://syndication.highwire.org/content/doi/10.1136/jmg.2010.081216

المؤلفون: Rio Frio, T., Wade, N.M., Ransijn, A., Berson, E.L., Beckmann, J.S., Rivolta, C.

المصدر: Journal of Clinical Investigation, vol. 118, no. 4, pp. 1519-1531

مصطلحات موضوعية: Adult, Alleles, Cell Line, Codon, Nonsense/genetics, Eye Proteins/genetics, Eye Proteins/metabolism, Female, Gene Expression Regulation, Haplotypes, Humans, Male, Middle Aged, Mutation/genetics, Protein Transport, RNA, Messenger/genetics, Messenger/metabolism, Retinitis Pigmentosa/genetics, Retinitis Pigmentosa/metabolism, Transcription, Genetic/genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/18317597; info:eu-repo/semantics/altIdentifier/pissn/0021-9738; https://serval.unil.ch/notice/serval:BIB_28E4A9D5B592

الاتاحة: https://serval.unil.ch/notice/serval:BIB_28E4A9D5B592
https://doi.org/10.1172/JCI34211

المؤلفون: Rivolta, C., McGee, T. L., Rio Frio, T., Jensen, R. V., Berson, E. L., Dryja, T. P.

المصدر: Human Mutation, vol. 27, no. 7, pp. 644-53

مصطلحات موضوعية: Alleles Cell Line *Codon, Nonsense Eye Proteins/*genetics/metabolism Gene Expression Histones/genetics/metabolism Humans Introns Oligonucleotide Array Sequence Analysis RNA, Messenger/analysis Retinitis Pigmentosa/diagnosis/*genetics/metabolism Reverse Transcriptase Polymerase Chain Reaction

Relation: info:eu-repo/semantics/altIdentifier/pmid/16708387; info:eu-repo/semantics/altIdentifier/eissn/1098-1004; https://serval.unil.ch/notice/serval:BIB_C44CC0EF8C23

الاتاحة: https://serval.unil.ch/notice/serval:BIB_C44CC0EF8C23
https://doi.org/10.1002/humu.20325

المؤلفون: Rio Frio, T.

Relation: https://serval.unil.ch/notice/serval:BIB_1E44596B8A44

الاتاحة: https://serval.unil.ch/notice/serval:BIB_1E44596B8A44

المؤلفون: Barbier, S., Sanchez, M. Fernandez, Whitehead, J., Bealle, G., Michel, A., Latorre-Ossa, H., Rey, C., Fouassier, L., Claperon, A., Brulle, L., Girard, E., Servant, N., Rio-Frio, T., Marie, H., Lesieur, S., Housset, C., Genisson, J., Mickael Tanter, Menager, C., Fre, S., Robine, S., Farge, E.

المصدر: Web of Science
ResearcherID

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::39ee9a128fe413b6606830d64b6a8e5f
https://publons.com/wos-op/publon/8091640/

المؤلفون: Rio Frio T, Panek S, Iseli C, Sa, Di Gioia, Kumar A, Gal A, Carlo Rivolta

المصدر: Scopus-Elsevier
Molecular Vision, vol. 15, pp. 2627-2633
Christian Iseli
Europe PubMed Central
Molecular Vision

مصطلحات موضوعية: Genetic Loci, Malate Dehydrogenase, Genetic Loci/genetics, Genetic Predisposition to Disease, High-Throughput Screening Assays/methods, Humans, Malate Dehydrogenase/genetics, Polymorphism, Single Nucleotide/genetics, Retinitis Pigmentosa/enzymology, Retinitis Pigmentosa/genetics, Sequence Analysis, DNA/methods, Sequence Analysis, DNA, Polymorphism, Single Nucleotide, Retinitis Pigmentosa, High-Throughput Screening Assays, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b80c673c49b74b1d576a74d479dbaf4f
http://www.scopus.com/inward/record.url?eid=2-s2.0-77649245506&partnerID=MN8TOARS

المؤلفون: Fernández-Sánchez, M.E., Barbier, S., Whitehead, J., Béalle, G., Michel, A., Latorre-Ossa, H., Rey, C., Fouassier, L., Claperon, A., Brullé, L., Girard, E., Servant, N., Rio-Frio, T., Marie, H., Lesieur, S., Housset, C., Gennisson, J.-L., Tanter, M., Ménager, C., Fre, S.

المصدر: European Journal of Cancer. Jul2016 Supplement 1, Vol. 61, pS3-S3. 1p.