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by Pharoah, Paul D. P and Tsai, Ya-Yu and Ramus, Susan J and Phelan, Catherine M and Goode, Ellen L and Lawrenson, Kate and Buckley, Melissa and Fridley, Brooke L and Tyrer, Jonathan P and Shen, Howard and Weber, Rachel and Karevan, Rod and Larson, Melissa C and Song, Honglin and Tessier, Daniel C and Bacot, François and Vincent, Daniel and Cunningham, Julie M and Dennis, Joe and Dicks, Ed and Aben, Katja K and Anton-Culver, Hoda and Antonenkova, Natalia and Armasu, Sebastian M and Baglietto, Laura and Bandera, Elisa V and Beckmann, Matthias W and Birrer, Michael J and Bloom, Greg and Bogdanova, Natalia and Brenton, James D and Brinton, Louise A and Brooks-Wilson, Angela and Brown, Robert and Butzow, Ralf and Campbell, Ian and Carney, Michael E and Carvalho, Renato S and Chang-Claude, Jenny and Chen, Y Anne and Chen, Zhihua and Chow, Wong-Ho and Cicek, Mine S and Coetzee, Gerhard and Cook, Linda S and Cramer, Daniel W and Cybulski, Cezary and Dansonka-Mieszkowska, Agnieszka and Despierre, Evelyn and Doherty, Jennifer A and Dörk, Thilo and Du Bois, Andreas and Dürst, Matthias and Eccles, Diana and Edwards, Robert and Ekici, Arif B and Fasching, Peter A and Fenstermacher, David and Flanagan, James and Gao, Yu-Tang and Garcia-Closas, Montserrat and Gentry-Maharaj, Aleksandra and Giles, Graham and Gjyshi, Anxhela and Gore, Martin and Gronwald, Jacek and Guo, Qi and Halle, Mari K and Harter, Philipp and Hein, Alexander and Heitz, Florian and Hillemanns, Peter and Hoatlin, Maureen and Høgdall, Estrid and Høgdall, Claus K and Hosono, Satoyo and Jakubowska, Anna and Jensen, Allan and Kalli, Kimberly R and Karlan, Beth Y and Kelemen, Linda E and Kiemeney, Lambertus A and Kjaer, Susanne Krüger and Konecny, Gottfried E and Krakstad, Camilla and Kupryjanczyk, Jolanta and Lambrechts, Diether and Lambrechts, Sandrina and Le, Nhu D and Lee, Nathan and Lee, Janet and Leminen, Arto and Lim, Boon Kiong and Lissowska, Jolanta and Lubiński, Jan and Lundvall, Lene and Lurie, Galina and Massuger, Leon F. A. G and Matsuo, Keitaro and McGuire, Valerie and ... and Australian Ovarian Canc Study Grp and Australian Canc Study and Australian Ovarian Cancer Study Group and Australian Cancer Study
Nature Genetics, ISSN 1061-4036, 04/2013, Volume 45, Issue 4, pp. 362 - 370
Genome-wide association studies (GWAS) have identified four susceptibility loci for epithelial ovarian cancer (EOC), with another two suggestive loci reaching... 
NEBULETTE | GENE | MYC | 19P13 | GENETICS & HEREDITY | RISK | EXPRESSION | CARCINOMA | GENOME-WIDE ASSOCIATION | Genetic susceptibility | Genetic aspects | Research | Single nucleotide polymorphisms | Health aspects | Risk factors | Ovarian cancer
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 03/2019, Volume 83, Issue 2, pp. 100 - 109
Cornelia de Lange syndrome (CdLS) is a genetically and clinical heterogeneous condition characterized by congenital malformation, intellectual disability, and... 
19p interstitial deletion | Cornelia de Lange | 19p13 | BRD4 | MICRODELETION | GENETICS & HEREDITY | INSIGHTS | DELETION | Chromosome 19 | Genotype & phenotype | Phenotypes | Clonal deletion | Congenital defects | Genes | Chromosome 12 | Mutation | Gene deletion | Genotypes | Haploinsufficiency
Journal Article
by Kar, S.P and Tyrer, J.P and Li, Q and Lawrenson, K and Aben, K.K.H and Anton-Culver, H and Antonenkova, N and Chenevix-Trench, G and Baker, H and Bandera, E.V and Bean, Y.T and Beckmann, M.W and Berchuck, A and Bisogna, M and Bjorge, L and Bogdanova, N and Brinton, L and Brooks-Wilson, A and Butzow, R and Campbell, I and Carty, K and Chang-Claude, J and Chen, Y.A and Chen, Z and Cook, L.S and Cramer, D and Cunningham, J.M and Cybulski, C and Dansonka-Mieszkowska, A and Dennis, J and Dicks, E and Doherty, J.A and Dork, T and Bois, A. du and Durst, M and Eccles, D and Easton, D.F and Edwards, R.P and Ekici, A.B and Fasching, P.A and Fridley, B.L and Gao, Y.T and Gentry-Maharaj, A and Giles, G.G and Glasspool, R and Goode, E.L and Goodman, M.T and Grownwald, J and Harrington, P and Harter, P and Hein, A and Heitz, F and Hildebrandt, M.A.T and Hillemanns, P and Hogdall, E and Hogdall, C.K and Hosono, S and Iversen, E.S and Jakubowska, A and Paul, J and Jensen, A and Ji, B.T and Karlan, B.Y and Kjaer, S.K and Kelemen, L.E and Kellar, M and Kelley, J and Kiemeney, L.A.L.M and Krakstad, C and Kupryjanczyk, J and Lambrechts, D and Lambrechts, S and Le, N.D and Lee, A.W and Lele, S and Leminen, A and Lester, J and Levine, D.A and Liang, D and Lissowska, J and Lu, K and Lubinski, J and Lundvall, L and Massuger, L.F and Matsuo, K and McGuire, V and McLaughlin, J.R and McNeish, I.A and Menon, U and Modugno, F and Moysich, K.B and Narod, S.A and Nedergaard, L and Ness, R.B and Nevanlinna, H and Odunsi, K and Olson, S.H and Orlow, I and Orsulic, S and Weber, R.P and Australian Ovarian Canc Study Grp and Australian Canc Study and and on behalf of the Australian Ovarian Cancer Study Group and on behalf of the Australian Cancer Study
Cancer Epidemiology, Biomarkers & Prevention, ISSN 1055-9965, 2015, Volume 24, Issue 10, pp. 1574 - 1584
BACKGROUND: Genome-wide association studies (GWAS) have so far reported 12 loci associated with serous epithelial ovarian cancer (EOC) risk. We hypothesized... 
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2010, Volume 42, Issue 10, pp. 819 - 820
  A genome-wide association study conducted among women with deleterious BRCA1 mutations has identified a common allele associated with breast cancer risk in... 
SUSCEPTIBILITY LOCI | RECEPTOR | VARIANTS | 19P13 | GENETICS & HEREDITY | GENOME-WIDE ASSOCIATION | BRCA1 Protein - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Gene Frequency | Humans | Female | Mutation - genetics
Journal Article
by Pharoah, P.D and Palmieri, R.T and Ramus, S.J and Gayther, S.A and Anulis, I.L and Anton-Culver, H and Antonenkova, N and Antoniou, A.C and Goldgar, D and Beattie, M.S and Beckmann, M.W and Birrer, M.J and Bogdanova, N and Bolton, K.L and Brewster, W and Brooks-Wilson, A and Brown, R and Butzow, R and Caldes, T and Caligo, M.A and Campbell, I and Chang-Claude, J and Chen, Y.A and Cook, L.S and Couch, F.J and Cramer, D.W and Cunningham, J.M and Despierre, E and Doherty, J.A and Dork, T and Durst, M and Eccles, D.M and Ekici, A.B and Easton, D and Fasching, P.A and Fazio, A. de and Fenstermacher, D.A and Flanagan, J.M and Fridley, B.L and Friedman, E and Gao, B and Sinilnikova, O and Gentry-Maharaj, A and Godwin, A.K and Goode, E.L and Goodman, M.T and Gross, J and Hansen, T.V and Harnett, P and Rookus, M and Heikkinen, T and Hein, R and Hogdall, C and Hogdall, E and Iversen, E.S and Jakubowska, A and Johnatty, S.E and Karlan, B.Y and Kauff, N.D and Kaye, S.B and Chenevix-Trench, G and Kelemen, L.E and Kiemeney, L.A.L.M and Kjaer, S.K and Lambrechts, D and Lapolla, J.P and Lazaro, C and Le, N.D and Leminen, A and Leunen, K and Levine, D.A and Lu, Y and Lundvall, L and MacGregor, S and Marees, T and Massuger, L.F.A.G and McLaughlin, J.R and Menon, U and Montagna, M and Moysich, K.B and Narod, S.A and Nathanson, K.L and Nedergaard, L and Ness, R.B and Nevanlinna, H and Nickels, S and Osorio, A and Paul, J and Pearce, C.L and Phelan, C.M and Pike, M.C and Radice, P and Rossing, M.A and Schildkraut, J.M and Sellers, T.A and Singer, C.F and Song, H and Stram, D.O and Sutphen, R and Lindblom, A and BCFR Investigators and KConFab Investigators and GEMO Study Collaborators and SWE-BRCA Investigators and Consortium Investigators Modifiers and EMBRACE Investigators and HEBON Investigators and Ovarian Canc Assoc Consortium and kConFab Investigators and the Consortium of Investigators of Modifiers of BRCA1/2 and Ovarian Cancer Association Consortium and for the EMBRACE Investigators and for the GEMO Study Collaborators and for the kConFab Investigators and the Consortium of Investigators of Modifiers of BRCA1/2 and for the Ovarian Cancer Association Consortium and for the SWE-BRCA Investigators and for the HEBON Investigators and for the BCFR Investigators
Clinical Cancer Research, ISSN 1078-0432, 2011, Volume 17, Issue 11, pp. 3742 - 3750
Journal Article
Plos One, ISSN 1932-6203, 2011, Volume 6, Issue 9, pp. e24987 - e24987
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2014, Volume 85, Issue 2, pp. 138 - 146
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 2953 - 2963
Journal Article
ANNALS OF NEUROLOGY, ISSN 0364-5134, 05/2001, Volume 49, Issue 5, pp. 668 - 672
Mutations in the CACNA1A gene can cause familial hemiplegic migraine (FHM) and/or cerebellar ataxia CACNA1A codes for the alpha (1), subunit of P/Q-Ca2+... 
FAMILIAL HEMIPLEGIC MIGRAINE | NEUROSCIENCES | CLINICAL NEUROLOGY | 19P13 | Cerebellar Diseases - physiopathology | Movement - physiology | Humans | Migraine Disorders - physiopathology | Adult | Female | Male | Arm - physiopathology
Journal Article