المؤلفون: Osorio, A, Milne, RL, Pita, G, Peterlongo, P, Heikkinen, T, Simard, J, Chenevix-Trench, G, Spurdle, AB, Beesley, J, Chen, X, Healey, S, Neuhausen, SL, Ding, YC, Couch, FJ, Wang, X, Lindor, N, Manoukian, S, Barile, M, Viel, A, Tizzoni, L, Szabo, CI, Foretova, L, Zikan, M, Claes, K, Greene, MH, Mai, P, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, IL, Ozcelik, H, Weerasooriya, N, Gerdes, AM, Thomassen, M, Cruger, DG, Caligo, MA, Friedman, E, Kaufman, B, Laitman, Y, Cohen, S, Kontorovich, T, Gershoni-Baruch, R, Dagan, E, Jernstrom, H, Askmalm, MS, Arver, B, Malmer, B, Domchek, SM, Nathanson, KL, Brunet, J, Cajal, TRY, Yannoukakos, D, Hamann, U, Hogervorst, FBL, Verhoef, S, Garcia, EBG, Wijnen, JT, van den Ouweland, A, Easton, DF, Peock, S, Cook, M, Oliver, CT, Frost, D, Luccarini, C, Evans, DG, Lalloo, F, Eeles, R, Pichert, G, Cook, J, Hodgson, S, Morrison, PJ, Douglas, F, Godwin, AK, Sinilnikova, OM, Barjhoux, L, Stoppa-Lyonnet, D, Moncoutier, V, Giraud, S, Cassini, C, Olivier-Faivre, L, Revillion, F, Peyrat, JP, Muller, D, Fricker, JP, Lynch, HT, John, EM, Buys, S, Daly, M, Hopper, JL, Terry, MB, Miron, A, Yassin, Y, Goldgar, D, Singer, CF, Gschwantler-Kaulich, D, Pfeiler, G, Spiess, AC, Hansen, TV, Johannsson, OT, Kirchhoff, T, Offit, K, Kosarin, K, Piedmonte, M, Rodriguez, GC, Wakeley, K, Boggess, JF, Basil, J, Schwartz, PE, Blank, SV, Toland, AE, Montagna, M, Casella, C, Imyanitov, EN, Allavena, A, Schmutzler, RK, Versmold, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Niederacher, D, Deissler, H, Fiebig, B, Varon-Mateeva, R, Schaefer, D, Froster, UG, Caldes, T, de la Hoya, M, McGuffog, L, Antoniou, AC, Nevanlinna, H, Radice, P, Benitez, J

المصدر: British journal of cancer. 101(12):2048-2054

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:119724791

المؤلفون: Tenorio, J, Arias, P, Fernandez-Jaen, A, Lay-Son, G, Bayat, A, Olivier-Faivre, L, Gallego, N, Ramos, S, Lespinasse, J, Tran-Mau-Them, F, Santos-Simarro, F, Pinson, L, Martinez-Monseny T, Cord, MDO, Lapunzina, P

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::b31e4e7398fd8a969b1ef131540763f9
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21732

المؤلفون: Hascoet, S., Dulac, Y., Ruidavets, J.B., Edouart, T., Arnoult, F., Milleron, O., Stheneur, C., Chevallier, B., Zordan, C., Odent, S., Philip, N., Olivier-Faivre, L., Leheup, B., Dubois-Girod, S., Acar, P., Ferrières, J., Jondeau, G.

المصدر: Archives of Cardiovascular Diseases ; volume 107, issue 8-9, page 497-498 ; ISSN 1875-2136

الاتاحة: http://dx.doi.org/10.1016/j.acvd.2014.07.031
https://api.elsevier.com/content/article/PII:S1875213614001831?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1875213614001831?httpAccept=text/plain

المؤلفون: Osorio, A, Milne, RL, Pita, G, Peterlongo, P, Heikkinen, T, Simard, J, Chenevix-Trench, G, Spurdle, AB, Beesley, J, Chen, X, Healey, S, Neuhausen, SL, Ding, YC, Couch, FJ, Wang, X, Lindor, N, Manoukian, S, Barile, M, Viel, A, Tizzoni, L, Szabo, CI, Foretova, L, Zikan, M, Claes, K, Greene, MH, Mai, P, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, IL, Ozcelik, H, Weerasooriya, N, Gerdes, A-M, Thomassen, M, Cruger, DG, Caligo, MA, Friedman, E, Kaufman, B, Laitman, Y, Cohen, S, Kontorovich, T, Gershoni-Baruch, R, Dagan, E, Jernstrom, H, Askmalm, MS, Arver, B, Malmer, B, Domchek, SM, Nathanson, KL, Brunet, J, Ramon y Cajal, T, Yannoukakos, D, Hamann, U, Hogervorst, FBL, Verhoef, S, Gomez Garcia, EB, Wijnen, JT, van den Ouweland, A, Easton, DF, Peock, S, Cook, M, Oliver, CT, Frost, D, Luccarini, C, Evans, DG, Lalloo, F, Eeles, R, Pichert, G, Cook, J, Hodgson, S, Morrison, PJ, Douglas, F, Godwin, AK, Sinilnikova, OM, Barjhoux, L, Stoppa-Lyonnet, D, Moncoutier, V, Giraud, S, Cassini, C, Olivier-Faivre, L, Revillion, F, Peyrat, J-P, Muller, D, Fricker, J-P, Lynch, HT, John, EM, Buys, S, Daly, M, Hopper, JL, Terry, MB, Miron, A, Yassin, Y, Goldgar, D, Singer, CF, Gschwantler-Kaulich, D, Pfeiler, G, Spiess, A-C, Hansen, TVO, Johannsson, OT, Kirchhoff, T, Offit, K, Kosarin, K, Piedmonte, M, Rodriguez, GC, Wakeley, K, Boggess, JF, Basil, J, Schwartz, PE, Blank, SV, Toland, AE, Montagna, M, Casella, C, Imyanitov, EN, Allavena, A, Schmutzler, RK, Versmold, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Niederacher, D, Deissler, H, Fiebig, B, Varon-Mateeva, R, Schaefer, D, Froster, UG, Caldes, T, de la Hoya, M, McGuffog, L, Antoniou, AC, Nevanlinna, H, Radice, P, Benitez, J

Relation: NHMRC/288704; NHMRC/454508; pii: 6605416; Osorio, A., Milne, R. L., Pita, G., Peterlongo, P., Heikkinen, T., Simard, J., Chenevix-Trench, G., Spurdle, A. B., Beesley, J., Chen, X., Healey, S., Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Lindor, N., Manoukian, S., Barile, M., Viel, A. ,. Benitez, J. (2009). Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1 / BRCA2 (CIMBA). BRITISH JOURNAL OF CANCER, 101 (12), pp.2048-2054. https://doi.org/10.1038/sj.bjc.6605416.; http://hdl.handle.net/11343/268529

الاتاحة: http://hdl.handle.net/11343/268529

المؤلفون: Boudray, J.M., Martel, J., Carmignac, V., Terriat, B., Ricolfi, F., Olivier-Faivre, L., Vabres, P.

المصدر: Annales de Dermatologie et de Vénéréologie ; volume 147, issue 12, page A265 ; ISSN 0151-9638

الاتاحة: http://dx.doi.org/10.1016/j.annder.2020.09.374
https://api.elsevier.com/content/article/PII:S0151963820307705?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0151963820307705?httpAccept=text/plain

المؤلفون: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A.

المساهمون: Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.3rd, Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: JAMA psychiatry
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery

وصف الملف: image/pdf; pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221714038bda1846e56d6e2e8e45f87a
http://archpsyc.jamanetwork.com/article.aspx?articleid=2471269

المؤلفون: Schluth-Bolard, C., Flamand-Roze, E., Masurel, A., Olivier-Faivre, L., Callier, P., Charles, P., Keren, B., Guillot, N., Labalme, A., Sanlaville, D., Mochel, F., Des Portes, V., Lesca, G.

المصدر: European Journal of Paediatric Neurology ; volume 21, page e52-e53 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/j.ejpn.2017.04.898
https://api.elsevier.com/content/article/PII:S1090379817311571?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379817311571?httpAccept=text/plain

المؤلفون: Amos, Ci, Wang, Le, Lee, Je, Gershenwald, Je, Chen, Wv, Fang, S, Kosoy, R, Zhang, M, Qureshi, Aa, Vattathil, S, Schacherer, Cw, Gardner, Jm, Wang, Y, Bishop, Dt, Barrett, Jh, Macgregor, S, Hayward, Nk, Martin, Ng, Duffy, Dl, Mann, Gj, Cust, A, Hopper, J, Brown, Km, Grimm, Ea, Xu, Y, Han, Y, Jing, K, Mchugh, C, Laurie, Cc, Doheny, Kf, Pugh, Ew, Seldin, Mf, Han, J, Wei, Q, Genomel, Investigators, Mega Investigators, Q., AMFS Investigators Mann GJ, Hopper, Jl, Aitken, Jf, Armstrong, Bk, Giles, Gg, Kefford, Rf, Cust, Ae, Jenkins, Ma, Schmid, H, Aguilera, P, Badenas, C, Carrera, C, Cuellar, F, Gabriel, D, Martinez, E, Gonzalez, M, Iglesias, P, Malvehy, J, Marti Laborda, R, Mila, M, Ogbah, Z, Butille, Ja, Puig, S, Alós, L, Arance, A, Arguís, P, Campo, A, Castel, T, Conill, C, Palou, J, Rull, R, Sánchez, M, Vidal Sicart, S, Vilalta, A, Vilella, R, Montgomery, Gw, Whiteman, Dc, Whiteman, D, Webb, P, Green, A, Parsons, P, Purdie, D, Hayward, N, Landi, Mt, Calista, D, Landi, G, Minghetti, P, Arcangeli, F, Bertazzi, Pa, Bianchi, Giovanna, Ghiorzo, Paola, Pastorino, Lorenza, Bruno, William, Battistuzzi, Linda, Gargiulo, Sara, Nasti, Sabina, Gliori, S, Origone, Paola, Andreotti, V, Queirolo, P, Mackie, R, Lang, J, Bishop, Ja, Affleck, P, Harrison, J, Iles, Mm, Randerson Moor, J, Harland, M, Taylor, Jc, Whittaker, L, Kukalizch, K, Leake, S, Karpavicius, B, Haynes, S, Mack, T, Chan, M, Taylor, Y, Davies, J, King, P, Gruis, Na, van Nieuwpoort FA, Out, C, van der Drift, C, Bergman, W, Kukutsch, N, Bavinck, Jn, Bakker, B, van der Stoep, N, ter Huurne, J, van der Rhee, H, Bekkenk, M, Snels, D, van Praag, M, Brochez, L, Gerritsen, R, Crijns, M, Vasen, H, Olsson, H, Ingvar, C, Jönsson, G, Borg, Å, Måsbäck, A, Lundgren, L, Baeckenhorn, K, Nielsen, K, Casslén, As, Helsing, P, Andresen, Pa, Rootwelt, H, Akslen, La, Molven, A, Avril, Mf, Bressac de Paillerets, B, Chaudru, V, Chateigner, N, Corda, E, Jeannin, P, Lesueur, F, de Lichy, M, Maubec, E, Mohamdi, H, Demenais, F, Andry Benzaquen, P, Bachollet, B, Bérard, F, Berthet, P, Boitier, F, Bonadona, V, Bonafé, Jl, Bonnetblanc, Jm, Cambazard, F, Caron, O, Caux, F, Chevrant Breton, J, Chompret, A, Dalle, S, Demange, L, Dereure, O, Doré, Mx, Doutre, Ms, Dugast, C, Faivre, L, Grange, F, Humbert, P, Joly, P, Kerob, D, Lasset, C, Leccia, Mt, Lenoir, G, Leroux, D, Levang, J, Lipsker, D, Mansard, S, Martin, L, Martin Denavit, T, Mateus, C, Michel, Jl, Morel, P, Olivier Faivre, L, Perrot, Jl, Robert, C, Ronger Savle, S, Sassolas, B, Souteyrand, P, Stoppa Lyonnet, D, Thomas, L, Vabres, P, Wierzbicka, E, Elder, D, Kanetsky, P, Knorr, J, Ming, M, Mitra, N, Ruffin, A, Van Belle, P, Debniak, T, Lubiński, J, Mirecka, A, Ertmański, S, Novakovic, S, Hocevar, M, Peric, B, Cerkovnik, P, Höiom, V, Hansson, J, Holland, Ea, Azizi, E, Galore Haskel, G, Friedman, E, Baron Epel, O, Scope, A, Pavlotsky, F, Yakobson, E, Cohen Manheim, I, Laitman, Y, Milgrom, R, Shimoni, I, Kozlovaa, E.

المصدر: Human Molecular Genetics, 20(24), 5012-5023

مصطلحات موضوعية: Genetic Markers, Candidate gene, Skin Neoplasms, Ubiquitin-Protein Ligases, Locus (genetics), Single-nucleotide polymorphism, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Meta-Analysis as Topic, Genetics, Eye color, Guanine Nucleotide Exchange Factors, Humans, SNP, Genetic Predisposition to Disease, Melanoma, Molecular Biology, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Pigmentation, Association Studies Articles, General Medicine, 3. Good health, Chromosomes, Human, Pair 1, Genetic Loci, Genetic marker, Case-Control Studies, 030220 oncology & carcinogenesis, Cutaneous melanoma, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aec82a1822cf36848ec074b314c11c7e
https://doi.org/10.1093/hmg/ddr415

المؤلفون: Dhers, M., Bonniaud, B., Bernigaud, C., Aubriot-Lorton, M.H., Bottollier-Colomb, E., Wassef, M., Olivier-Faivre, L., Vabres, P.

المصدر: Annales de Dermatologie et de Vénéréologie ; volume 143, issue 12, page S311 ; ISSN 0151-9638

الاتاحة: http://dx.doi.org/10.1016/j.annder.2016.09.471
https://api.elsevier.com/content/article/PII:S0151963816308766?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0151963816308766?httpAccept=text/plain

المؤلفون: Schoof N, Iles MM, Bishop DT, Newton Bishop JA, Barrett JH, Mann GJ, Hopper JL, Aitken JF, Armstrong BK, Giles GG, Kefford RF, Cust A, Jenkins M, Aguilera P, Badenas C, Carrera C, Cuellar F, Gabriel D, Martinez E, Gonzalez M, Iglesias P, Malvehy J, Marti Laborda R, Mila M, Ogbah Z, Butille JA, Puig S, Alós L, Arance A, Arguís P, Campo A, Castel T, Conill C, Palou J, Rull R, Sánchez M, Vidal Sicart S, Vilalta A, Vilella R, Martin NG, Montgomery GW, Duffy D, Whiteman D, MacGregor S, Hayward NK, Webb P, Parsons P, Purdie D, Hayward N, Landi MT, Calista D, Landi G, Minghetti P, Arcangeli F, Bertazzi PA, BIANCHI, GIOVANNA, GHIORZO, PAOLA, PASTORINO, LORENZA, BRUNO, WILLIAM, BATTISTUZZI, LINDA, GARGIULO, SARA, NASTI, SABINA, Gliori S, ORIGONE, PAOLA, Queirolo P, Mackie R, Lang J, Bishop JA, Affleck P, Harrison J, Randerson Moor J, Harland M, Taylor JC, Whittaker L, Kukalizch K, Leake S, Karpavicius B, Haynes S, Mack T, Chan M, Taylor Y, Davies J, King P, Gruis NA, van Nieuwpoort FA, Out C, van der Drift C, Bergman W, Kukutsch N, Bavinck JN, Bakker B, van der Stoep N, ter Huurne J, van der Rhee H, Bekkenk M, Snels D, van Praag M, Brochez L, Gerritsen R, Crijns M, Vasen H, Olsson H, Ingvar C, Jönsson G, Borg Å, Måsbäck A, Lundgren L, Baeckenhorn K, Nielsen K, Casslén AS, Helsing P, Andresen PA, Rootwelt H, Akslen LA, Molven A, Avril MF, Bressac de Paillerets B, Chaudru V, Chateigner N, Corda E, Jeannin P, Lesueur F, de Lichy M, Maubec E, Mohamdi H, Demenais F, Andry Benzaquen P, Bachollet B, Bérard F, Berthet P, Boitier F, Bonadona V, Bonafé JL, Bonnetblanc JM, Cambazard F, Caron O, Caux F, Chevrant Breton J, Chompret A, Dalle S, Demange L, Dereure O, Doré MX, Doutre MS, Dugast C, Faivre L, Grange F, Humbert P, Joly P, Kerob D, Lasset C, Leccia MT, Lenoir G, Leroux D, Levang J, Lipsker D, Mansard S, Martin L, Martin Denavit T, Mateus C, Michel JL, Morel P, Olivier Faivre L, Perrot JL, Robert C, Ronger Savle S, Sassolas B, Souteyrand P, Stoppa Lyonnet D, Thomas L, Vabres P, Wierzbicka E, Elder D, Kanetsky P, Knorr J, Ming M, Mitra N, Ruffin A, Van Belle P, Dębniak T, Lubiński J, Mirecka A, Ertmański S, Novakovic S, Hocevar M, Peric B, Cerkovnik P, Höiom V, Hansson J, Schmid H, Holland EA, Azizi E, Galore Haskel G, Friedman E, Baron Epel O, Scope A, Pavlotsky F, Yakobson E, Cohen Manheim I, Laitman Y, Milgrom R, Shimoni I, Kozlovaa E.

المساهمون: Schoof, N, Iles, Mm, Bishop, Dt, Newton Bishop, Ja, Barrett, Jh, Mann, Gj, Hopper, Jl, Aitken, Jf, Armstrong, Bk, Giles, Gg, Kefford, Rf, Cust, A, Jenkins, M, Aguilera, P, Badenas, C, Carrera, C, Cuellar, F, Gabriel, D, Martinez, E, Gonzalez, M, Iglesias, P, Malvehy, J, Marti Laborda, R, Mila, M, Ogbah, Z, Butille, Ja, Puig, S, Alós, L, Arance, A, Arguís, P, Campo, A, Castel, T, Conill, C, Palou, J, Rull, R, Sánchez, M, Vidal Sicart, S, Vilalta, A, Vilella, R, Martin, Ng, Montgomery, Gw, Duffy, D, Whiteman, D, Macgregor, S, Hayward, Nk, Webb, P, Parsons, P, Purdie, D, Hayward, N, Landi, Mt, Calista, D, Landi, G, Minghetti, P, Arcangeli, F, Bertazzi, Pa, Bianchi, Giovanna, Ghiorzo, Paola, Pastorino, Lorenza, Bruno, William, Battistuzzi, Linda, Gargiulo, Sara, Nasti, Sabina, Gliori, S, Origone, Paola, Queirolo, P, Mackie, R, Lang, J, Bishop, Ja, Affleck, P, Harrison, J, Randerson Moor, J, Harland, M, Taylor, Jc, Whittaker, L, Kukalizch, K, Leake, S, Karpavicius, B, Haynes, S, Mack, T, Chan, M, Taylor, Y, Davies, J, King, P, Gruis, Na, van Nieuwpoort, Fa, Out, C, van der Drift, C, Bergman, W, Kukutsch, N, Bavinck, Jn, Bakker, B, van der Stoep, N, ter Huurne, J, van der Rhee, H, Bekkenk, M, Snels, D

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/22216283; info:eu-repo/semantics/altIdentifier/wos/WOS:000300674900036; volume:6; firstpage:0; lastpage:0; numberofpages:1; journal:PLOS ONE; http://hdl.handle.net/11567/384225; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84455172956

الاتاحة: http://hdl.handle.net/11567/384225
https://doi.org/10.1371/journal.pone.0029451

المؤلفون: Osorio, A., Milne, R.L., Pita, G., Peterlongo, P., Heikkinen, T., Simard, J., Chenevix-Trench, G., Spurdle, A.B., Beesley, J., Chen, X., Healey, S., Neuhausen, S.L., Ding, Y.C., Couch, F.J., Wang, X., Lindor, N., Manoukian, S., Barile, M., Viel, A., Tizzoni, L., Szabo, C.I., Foretova, L., Zikan, M., Claes, K., Greene, M.H., Mai, P., Rennert, G., Lejbkowicz, F., Barnett-Griness, O., Andrulis, I.L., Ozcelik, H., Weerasooriya, N., Gerdes, A.M., Thomassen, M, Cruger, D.G., Caligo, M.A., Friedman, E., Kaufman, B., Laitman, Y., Cohen, S., Kontorovich, T., Gershoni-Baruch, R., Dagan, E., Jernstrom, H., Askmalm, M.S., Arver, B., Malmer, B., Domchek, S.M., Nathanson, K.L., Brunet, J., Ramon, Y.Cajal, Yannoukakos, D., Hamann, U., Hogervorst, F.B., Verhoef, S., Garcia, E.B. Gomez, Wijnen, J.T., Ouweland, A. van den, Easton, D.F., Peock, S., Cook, M., Oliver, C.T., Frost, D., Luccarini, C., Evans, D.G., Lalloo, F., Eeles, R., Pichert, G., Cook, J., Hodgson, S., Morrison, P.J., Douglas, F., Godwin, A.K., Sinilnikova, O.M., Barjhoux, L., Stoppa-Lyonnet, D., Moncoutier, V., Giraud, S., Cassini, C., Olivier-Faivre, L., Revillion, F., Peyrat, J.P., Muller, D., Fricker, J.P., Lynch, H.T., John, E.M., Buys, S., Daly, M., Hopper, J.L., Terry, M.B., Miron, A., Yassin, Y., Goldgar, D., Singer, C.F., Gschwantler-Kaulich, D., Pfeiler, G., Spiess, A.C., Hansen, T.v.O, Johannsson, O.T., Kirchhoff, T., Offit, K., Kosarin, K., Piedmonte, M., Rodriguez, G.C., Wakeley, K., Boggess, J.F., Basil, J., Schwartz, P.E., Blank, S.V., Toland, A.E., Montagna, M., Casella, C., Imyanitov, E.N., Allavena, A., Schmutzler, R.K., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deissler, H., Fiebig, B., Varon-Mateeva, R., Schaefer, D., Froster, U.G., Caldes, T., Hoya, M. de la, McGuffog, L., Antoniou, A.C., Nevanlinna, H., Radice, P., Benitez, J.

المصدر: Osorio , A , Milne , R L , Pita , G , Peterlongo , P , Heikkinen , T , Simard , J , Chenevix-Trench , G , Spurdle , A B , Beesley , J , Chen , X , Healey , S , Neuhausen , S L , Ding , Y C , Couch , F J , Wang , X , Lindor , N , Manoukian , S , Barile , M , Viel , A , Tizzoni , L , Szabo , C I , Foretova , L , Zikan , M , Claes ....

الاتاحة: https://researchprofiles.ku.dk/da/publications/evaluation-of-a-candidate-breast-cancer-associated-snp-in-ercc4-as-a-risk-modifier-in-brca1-and-brca2-mutation-carriers-results-from-the-consortium-of-investigators-of-modifiers-of-brca1brca2-cimba(9554f110-6311-11df-928f-000ea68e967b).html

المؤلفون: Galliot-Repkat, C., Olivier-Faivre, L., Couillault, G., Piard, F., Bougeard, G., Frebourg, T., Vabres, P.

المصدر: Annales de Dermatologie et de Vénéréologie ; volume 133, issue 6-7, page 624-625 ; ISSN 0151-9638

الاتاحة: http://dx.doi.org/10.1016/s0151-9638(06)77591-3
https://api.elsevier.com/content/article/PII:S0151963806775913?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0151963806775913?httpAccept=text/plain

المؤلفون: Calamel, A., Pillay, V.G.V., Olivier Faivre, L., Freguin, C., Llanas, B., Le Meur, Y., Audrezet, M.P., Cornec Le Gall, E.

المصدر: Néphrologie & Thérapeutique; Sep2022, Vol. 18 Issue 5, p300-300, 1p

المؤلفون: Schoof, N, Iles, Mm, Bishop, Dt, Newton Bishop JA, Barrett, Jh, Mann, Gj, Hopper, Jl, Aitken, Jf, Armstrong, Bk, Giles, Gg, Kefford, Rf, Cust, A, Jenkins, M, Aguilera, P, Badenas, C, Carrera, C, Cuellar, F, Gabriel, D, Martinez, E, Gonzalez, M, Iglesias, P, Malvehy, J, Marti Laborda, R, Mila, M, Ogbah, Z, Butille, Ja, Puig, S, Alós, L, Arance, A, Arguís, P, Campo, A, Castel, T, Conill, C, Palou, J, Rull, R, Sánchez, M, Vidal Sicart, S, Vilalta, A, Vilella, R, Martin, Ng, Montgomery, Gw, Duffy, D, Whiteman, D, Macgregor, S, Hayward, Nk, Webb, P, Parsons, P, Purdie, D, Hayward, N, Landi, Mt, Calista, D, Landi, G, Minghetti, P, Arcangeli, F, Bertazzi, Pa, Bianchi, Giovanna, Ghiorzo, Paola, Pastorino, Lorenza, Bruno, William, Battistuzzi, Linda, Gargiulo, Sara, Nasti, Sabina, Gliori, S, Origone, Paola, Queirolo, P, Mackie, R, Lang, J, Bishop, Ja, Affleck, P, Harrison, J, Randerson Moor, J, Harland, M, Taylor, Jc, Whittaker, L, Kukalizch, K, Leake, S, Karpavicius, B, Haynes, S, Mack, T, Chan, M, Taylor, Y, Davies, J, King, P, Gruis, Na, van Nieuwpoort FA, Out, C, van der Drift, C, Bergman, W, Kukutsch, N, Bavinck, Jn, Bakker, B, van der Stoep, N, ter Huurne, J, van der Rhee, H, Bekkenk, M, Snels, D, van Praag, M, Brochez, L, Gerritsen, R, Crijns, M, Vasen, H, Olsson, H, Ingvar, C, Jönsson, G, Borg, Å, Måsbäck, A, Lundgren, L, Baeckenhorn, K, Nielsen, K, Casslén, As, Helsing, P, Andresen, Pa, Rootwelt, H, Akslen, La, Molven, A, Avril, Mf, Bressac de Paillerets, B, Chaudru, V, Chateigner, N, Corda, E, Jeannin, P, Lesueur, F, de Lichy, M, Maubec, E, Mohamdi, H, Demenais, F, Andry Benzaquen, P, Bachollet, B, Bérard, F, Berthet, P, Boitier, F, Bonadona, V, Bonafé, Jl, Bonnetblanc, Jm, Cambazard, F, Caron, O, Caux, F, Chevrant Breton, J, Chompret, A, Dalle, S, Demange, L, Dereure, O, Doré, Mx, Doutre, Ms, Dugast, C, Faivre, L, Grange, F, Humbert, P, Joly, P, Kerob, D, Lasset, C, Leccia, Mt, Lenoir, G, Leroux, D, Levang, J, Lipsker, D, Mansard, S, Martin, L, Martin Denavit, T, Mateus, C, Michel, Jl, Morel, P, Olivier Faivre, L, Perrot, Jl, Robert, C, Ronger Savle, S, Sassolas, B, Souteyrand, P, Stoppa Lyonnet, D, Thomas, L, Vabres, P, Wierzbicka, E, Elder, D, Kanetsky, P, Knorr, J, Ming, M, Mitra, N, Ruffin, A, Van Belle, P, Dębniak, T, Lubiński, J, Mirecka, A, Ertmański, S, Novakovic, S, Hocevar, M, Peric, B, Cerkovnik, P, Höiom, V, Hansson, J, Schmid, H, Holland, Ea, Azizi, E, Galore Haskel, G, Friedman, E, Baron Epel, O, Scope, A, Pavlotsky, F, Yakobson, E, Cohen Manheim, I, Laitman, Y, Milgrom, R, Shimoni, I, Kozlovaa, E.

المساهمون: Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Martí Laborda, Rosa Ma., Universitat de Barcelona

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS ONE
PLoS ONE, 2011, 6, pp.e29451. ⟨10.1371/journal.pone.0029451⟩
Repositorio Abierto de la UdL
Universitad de Lleida
PLoS ONE, Public Library of Science, 2011, 6, pp.e29451. ⟨10.1371/journal.pone.0029451⟩
PLoS ONE, 6(12)
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS ONE, Vol 6, Iss 12, p e29451 (2011)

مصطلحات موضوعية: Melanomas, Skin Neoplasms, Epidemiology, medicine.medical_treatment, [SDV]Life Sciences [q-bio], lcsh:Medicine, Genome-wide association study, 0302 clinical medicine, Polymorphism (computer science), Genetics of the Immune System, lcsh:Science, Melanoma, Genetics, 0303 health sciences, Multidisciplinary, Cancer Risk Factors, Statistics, Immunosuppression, Genomics, Oncology, Genetic Epidemiology, 030220 oncology & carcinogenesis, Medicine, Research Article, medicine.medical_specialty, Immunology, Genetic Causes of Cancer, Malignant Skin Neoplasms, Single-nucleotide polymorphism, Dermatology, Biostatistics, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Genome Analysis Tools, Molecular genetics, Genome-Wide Association Studies, medicine, Humans, SNP, Genetic Predisposition to Disease, Statistical Methods, Gene, 030304 developmental biology, Immunosuppression Therapy, Evolutionary Biology, Population Biology, Immunosupressió, lcsh:R, Computational Biology, Human Genetics, medicine.disease, Genetic Polymorphism, Clinical Immunology, lcsh:Q, Population Genetics, Mathematics, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a857b6625abb81998a53ad021eae7391
http://hdl.handle.net/2445/148343

المؤلفون: Wierzbicka, E., Robert, M., Herbreteau, D., Lorette, G., Jury, C. S., Mealyea, M., Mchenry, P., Lever, R., Wallach, D., Coste, J., Tilles, G., Taïeb, A., Debons, M., Bernier, C., Sebastien Barbarot, Chavigny, J. M., Le Fol, C., Bauer, D., Anton, M., Mollé, I., Gagnayre, R., Stalder, J. F., Carrie, E., Hadj-Rabia, S., Bourdon-Lanoy, E., Pruskowski, A., Hamel, D., Prost, Y., Casanova, J. L., Bodemer, C., Boutet, A., Mechinaud, F., Mazereeuw-Hautier, J., Wilson, L., Atherton, D., Harper, J. I., Titeux, M., Prost-Squarcioni, C., Hovnanian, A., Onyon, C., Goodyear, H., Giacchero, D., Allieri-Rosenthal, M., Bouillet, L., Ortonne, J. P., Lacour, J. P., Mak, R. K. H., Paige, D., Leigh, I. M., Kelsell, D. P., O Toole, E. A., Larregue, M., Biedere, C., Lhuillier, N., Leverger, G., Descargues, P., Lesueur, F., Bonafé, J., Fischer, J., Frot, A. S., Piloquet, H., Lamant, L., Cassagnau, E., Morice, F. M., Leaute-Labreze, C., Boralevi, F., Lepreux, S., Lang-Bandon, J., Webber, N. K., Paige, D. G., Galliot-Repkat, C., Olivier-Faivre, L., Couillault, G., Piard, F., Bougeard, G., Frebourg, T., Vabres, P., Gass, J., Firth, H., Burrows, N., Corradini, N., Rouse, P., Sidwell, R. U., Jiskoot, Green, J. S. A., Mowbray, M., Schofield, O. M. V., Viseux, V., Devoldere, C., El Hanache, A., Chaby, G., Morin, G., Lok, C., Vourc H, M., Thomas, C.

المصدر: Scopus-Elsevier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::50aaf5fd0ece18ae9be0e08b75af1ff6
http://www.scopus.com/inward/record.url?eid=2-s2.0-33746923989&partnerID=MN8TOARS

المؤلفون: Hascoet, S., Dulac, Y., Ruidavets, J. B., Edouart, T., Arnoult, F., Milleron, O., Stheneur, C., Chevallier, B., Zordan, C., Odent, S., Philip, N., Olivier-Faivre, L., Leheup, B., Dubois-Girod, S., Acar, P., Ferrières, J., Jondeau, G.

المصدر: Archives of Cardiovascular Diseases; Aug2014, Vol. 107 Issue 8/9, p488-489, 2p