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cancer mutation carrier breast brca 1 university study genetic analysis department research institute cancer risk genetics service association hospital centre center patient breast cancer risk genet mutation carriers diagnosis ficiency service subject malonic malonyl-coa decarboxylase allele decarboxylase malonic aciduria malonyl-coa genotype aciduria chromosome per-allele ratio oncology hazard breast cancer genome-wide association study disease health mlycd breast cancer diagnosis family rs 3814113 per-allele hr foundation cancer diagnosis women variant brca 2 genes chromosome 16 age 80 years consortium estimate article susceptibility mlycd gene netherland ptrend j hum genet cancer cluster region snp rs 3814113 germany italy sample hazard ratios france table brca 2 carnitine genome-wide grant medicine activity fi broblasts malonyl-coa decarboxylase activity creatinine
2 Most Recent Publications
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Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers
(Article)
Ramus, S.J. kartsonaki, C. Wang, X. Collonge-Rame, M.-A. Vénat-Bouvet, L. Fert-Ferrer, S. Miron, A. Buys, S.S. Hopper, J. Daly, M. John, E.M. Terry, M-B. Goldgar, D. Fredericksen, Z. Hansen, T.V.O. Jønson, L. Ejlertsen, B. Agnarsson, B.A. Offit, K. Kirchhoff, T. Vijai, J. Dutra-Clarke, A. Przybylo, J.A. Montagna, M. Peterlongo, P. Casella, C. Imyanitov, E.N. Janavicius, R. Blanco, I. Lazaro, C. Moysich, K.B. Karlan, B.Y. Gross, J. Beattie, M.S. Schmutzler, R.K. Manoukian, S. Wappenschmidt, B. Meindl, A. Ruehl, I. Fiebig, B. Sutter, C. Arnold, N. Deissler, H. Varon-Mateeva, R. Kast, K. Niederacher, D. Peissel, B. Gadzicki, D. Caldes, T. Hoya, M. de La Nevanlinna, H. Aittomäki, K. Simard, J. Soucy, P. Spurdle, A.B. Holland, H. Easton, D.F. Zaffaroni, D. Antoniou, A.C. Asperen, C.J. van Roversi, G. Barile, M. Viel, A. Allavena, A. Gayther, S.A. Ottini, L. Papi, L. Gismondi, V. Capra, F. Radice, P. Greene, M.H. Mai, P.L. Andrulis, I.L. Glendon, G. Ozcelik, H. Pharoah, P.D.P. Thomassen, M. Gerdes, A-M. Kruse, T.A. Cruger, D. Jensen, U.B. Caligo, M.A. Olsson, H. Kristoffersson, U. Lindblom, A. Arver, B. Sinilnikova, O. Karlsson, P. Stenmark-Askmalm, M. Borg, A. Neuhausen, S.L. Ding, Y.C. Nathanson, K.L. Domchek, S.M. Jakubowska, A. Lubinski, J. Huzarski, T. Beesley, J. Byrski, T. Gronwald, J. Górski, B. Cybulski, C. Dbniak, T. Osorio, A. Durán, M. Tejada, M.-I. Benitez, J. Hamann, U. Chenevix-Trench, G. Rookus, M.A. Verhoef, S. Tilanus-Linthorst, M.A. Vreeswijk, M.P. Bodmer, D. Ausems, M.G.E.M. Os, T.A.M. van Blok, M.J. Meijers-Heijboer, H. Peock, S. McGuffog, L. Cook, J. Oliver, C. Frost, D. Dunning, A.M. Evans, D.G. Eeles, R. Pichert, G. Cole, T.J. Hodgson, S.V. Brewer, C. Healey, S. Morrison, P.J. Porteous, M.E. Kennedy, M.J. Rogers, M.T. Side, L. Donaldson, A. Gregory, H. Godwin, A.K. Stoppa-Lyonnet, D. Moncoutier, V. Couch, F.J. Castera, L. Mazoyer, S. Barjhoux, L. Bonadona, V. Leroux, D. Faivre, L. Lidereau, R. Nogues, C. Bignon, Y.-J. Prieur, F. |
2011-01-19
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Fatal malonyl coa decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16
(Article)
Malvagia, S. Papi, L. Morrone, A. Donati, M.A. Ciani, F. Pasquini, E. la Marca, G. Scholte, H.R. Genuardi, M. Zammarchi, E. |
2007-11-01
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