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 Julkaisujen tiedon ikoni

BRCA2 mutations in 154 Finnish male breast cancer patients

Vertaisarvioitu
DOI
10.1593/neo.04193
Syrjäkoski, Kirsi; Kuukasjärvi, Tuula; Waltering, Kati; Haraldsson, Karin; Auvinen, Anssi; Borg, Åke...
Neoplasia2004 Julkaisujen tiedon ikoni

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

Vertaisarvioitu
DOI
10.1186/bcr3169
Maia, Ana-Teresa; Antoniou, Antonis C.; O'Reilly, Martin; Samarajiwa, Shamith; Dunning, Mark; Kartso...
Breast cancer research2012 Julkaisujen tiedon ikoni

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.23406
EMBRACE; GEMO Study Collaborators; HEBON; kConFab Investigators; Rebbeck, Timothy R.; Friebel, Tara ...
Human mutation2018 Julkaisujen tiedon ikoni

The BRCA2 c.68-7T > A variant is not pathogenic:A model for clinical calibration of spliceogenicity

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.23411
kConFab-AOCS Investigators; Study EMBRACE; Study HEBON; Colombo, Mara; Lopez-Perolio, Irene; Meeks, ...
Human mutation2018 Julkaisujen tiedon ikoni

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s13058-016-0768-3
Rebbeck, Timothy R.; Friebel, Tara M.; Mitra, Nandita; Wan, Fei; Chen, Stephanie; Andrulis, Irene L....
Breast cancer research2016 Julkaisujen tiedon ikoni

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.23818
Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló, L...
Human mutation2019 Julkaisujen tiedon ikoni

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Vertaisarvioitu
Avoin saatavuus
DOI
10.1158/0008-5472.CAN-16-2568
Shimelis, Hermela; Mesman, Romy L. S.; Von Nicolai, Catharina; Ehlen, Asa; Guidugli, Lucia; Martin, ...
Cancer research2017 Julkaisujen tiedon ikoni

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

Vertaisarvioitu
Shimelis H; Mesman RLS; von NICOLAI C; Ehlen A; Guidugli L; Martin C; Calléja FMGR; Meeks H; Hallber...
Cancer Research2017 Julkaisujen tiedon ikoni

Targeting BRCA1 and BRCA2 Deficiencies with G-Quadruplex-Interacting Compounds

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.molcel.2015.12.004
Zimmer, Jutta; Tacconi, Eliana M. C.; Folio, Cecilia; Badie, Sophie; Porru, Manuela; Klare, Kerstin;...
Molecular cell2016 Julkaisujen tiedon ikoni

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Vertaisarvioitu
DOI
10.1007/s00439-011-1003-z
Im, Kate M.; Kirchhoff, Tomas; Wang, Xianshu; Green, Todd; Chow, Clement Y.; Vijai, Joseph; Korn, Jo...
Human genetics2011

BRCA2 mutations in 154 Finnish male breast cancer patients

Vertaisarvioitu
DOI
10.1593/neo.04193
2004

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

Vertaisarvioitu
DOI
10.1186/bcr3169
2012

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.23406
2018

The BRCA2 c.68-7T > A variant is not pathogenic:A model for clinical calibration of spliceogenicity

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.23411
2018

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s13058-016-0768-3
2016

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/humu.23818
2019

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Vertaisarvioitu
Avoin saatavuus
DOI
10.1158/0008-5472.CAN-16-2568
2017

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

Vertaisarvioitu
2017

Targeting BRCA1 and BRCA2 Deficiencies with G-Quadruplex-Interacting Compounds

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.molcel.2015.12.004
2016

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

Vertaisarvioitu
DOI
10.1007/s00439-011-1003-z
2011