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Author/Creator Machackova, Eva

1. BRCA1 Circos: a visualisation resource for functional analysis of missense variants. Issue 4 (2nd February 2015)

Authors:
Jhuraney, Ankita; Velkova, Aneliya; Johnson, Randall C; Kessing, Bailey; Carvalho, Renato S; Whiley, Phillip; Spurdle, Amanda B; Vreeswijk, Maaike P G; Caputo, Sandrine M; Millot, Gael A; Vega, Ana; Coquelle, Nicolas; Galli, Alvaro; Eccles, Diana; Blok, Marinus J; Pal, Tuya; van der Luijt, Rob B;...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 4(2015)
Page Start:
224
Record Type:
Journal Article
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3. Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer. Issue 7 (20th May 2019)

Authors:
Kleiblova, Petra; Stolarova, Lenka; Krizova, Katerina; Lhota, Filip; Hojny, Jan; Zemankova, Petra; Havranek, Ondrej; Vocka, Michal; Cerna, Marta; Lhotova, Klara; Borecka, Marianna; Janatova, Marketa; Soukupova, Jana; Sevcik, Jan; Zimovjanova, Martina; Kotlas, Jaroslav; Panczak, Ales; Vesela, Kami...
Journal:
International journal of cancer
Issue:
Volume 145:Issue 7(2019)
Page Start:
1782
Record Type:
Journal Article
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4. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Issue 1 (December 2016)

Authors:
Silvestri, Valentina; Barrowdale, Daniel; Mulligan, Anna; Neuhausen, Susan; Fox, Stephen; Karlan, Beth; Mitchell, Gillian; James, Paul; Thull, Darcy; Zorn, Kristin; Carter, Natalie; Nathanson, Katherine; Domchek, Susan; Rebbeck, Timothy; Ramus, Susan; Nussbaum, Robert; Olopade, Olufunmilayo; Rant...
Journal:
Breast cancer research
Issue:
Volume 18:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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6. Mutational spectrum in a worldwide study of 29, 700 families with BRCA1 or BRCA2 mutations. Issue 5 (12th March 2018)

Authors:
Rebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo‐Hwang; Thomassen, Mads; Weitzel, Jeffrey N.; Chan, TL; Couch, Fergus J.; Goldgar, David E.; Kruse, Torben A.; Palmero, Edenir Inêz; Par...
Journal:
Human mutation
Issue:
Volume 39:Issue 5(2018)
Page Start:
593
Record Type:
Journal Article
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7. Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11. Issue 4 (22nd January 2018)

Authors:
Baert, Annelot; Machackova, Eva; Coene, Ilse; Cremin, Carol; Turner, Kristin; Portigal‐Todd, Cheryl; Asrat, Marie Jill; Nuk, Jennifer; Mindlin, Allison; Young, Sean; MacMillan, Andree; Van Maerken, Tom; Trbusek, Martin; McKinnon, Wendy; Wood, Marie E.; Foulkes, William D.; Santamariña, Marta; de ...
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
515
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗