Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs3448

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs3448

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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The Role of Genetic Variants in the Susceptibility of Noise-Induced Hearing Loss.

Frontiers In Cellular Neuroscience

Chen, Xue-Min XM; Xue, Xin-Miao XM; Yu, Ning N; Guo, Wei-Wei WW; Yuan, Shuo-Long SL; Jiang, Qing-Qing QQ; Yang, Shi-Ming SM

Publication Date: 2022

Variant appearance in text: rs3448

PubMed Link: 35903368

Variant Present in the following documents:

• Main text
• fncel-16-946206.pdf

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: rs3448

PubMed Link: 35899134

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs3448

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs3448

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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Association of Nrf2, SOD2 and GPX1 Polymorphisms with Biomarkers of Oxidative Distress and Survival in End-Stage Renal Disease Patients.

Toxins

Jerotic, Djurdja D; Matic, Marija M; Suvakov, Sonja S; Vucicevic, Katarina K; Damjanovic, Tatjana T; Savic-Radojevic, Ana A; Pljesa-Ercegovac, Marija M; Coric, Vesna V; Stefanovic, Aleksandra A; Ivanisevic, Jasmina J; Jelic-Ivanovic, Zorana Z; McClements, Lana L; Dimkovic, Nada N; Simic, Tatjana T

Publication Date: 2019-07-23

Variant appearance in text: rs3448

PubMed Link: 31340563

Variant Present in the following documents:

• Main text
• toxins-11-00431.pdf

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Genetic and Epigenetic Studies in Diabetic Kidney Disease.

Frontiers In Genetics

Gu, Harvest F HF

Publication Date: 2019

Variant appearance in text: rs3448

PubMed Link: 31231424

Variant Present in the following documents:

• Main text

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Association of Selenoprotein and Selenium Pathway Genotypes with Risk of Colorectal Cancer and Interaction with Selenium Status.

Nutrients

Fedirko, Veronika V; Jenab, Mazda M; Méplan, Catherine C; Jones, Jeb S JS; Zhu, Wanzhe W; Schomburg, Lutz L; Siddiq, Afshan A; Hybsier, Sandra S; Overvad, Kim K; Tjønneland, Anne A; Omichessan, Hanane H; Perduca, Vittorio V; Boutron-Ruault, Marie-Christine MC; Kühn, Tilman T; Katzke, Verena V; Aleksandrova, Krasimira K; Trichopoulou, Antonia A; Karakatsani, Anna A; Kotanidou, Anastasia A; Tumino, Rosario R; Panico, Salvatore S; Masala, Giovanna G; Agnoli, Claudia C; Naccarati, Alessio A; Bueno-de-Mesquita, Bas B; Vermeulen, Roel C H RCH; Weiderpass, Elisabete E; Skeie, Guri G; Nøst, Therese Haugdahl TH; Lujan-Barroso, Leila L; Quirós, J Ramón JR; Huerta, José María JM; Rodríguez-Barranco, Miguel M; Barricarte, Aurelio A; Gylling, Björn B; Harlid, Sophia S; Bradbury, Kathryn E KE; Wareham, Nick N; Khaw, Kay-Tee KT; Gunter, Marc M; Murphy, Neil N; Freisling, Heinz H; Tsilidis, Kostas K; Aune, Dagfinn D; Riboli, Elio E; Hesketh, John E JE; Hughes, David J DJ

Publication Date: 2019-04-25

Variant appearance in text: rs3448

PubMed Link: 31027226

Variant Present in the following documents:

• Main text
• nutrients-11-00935.pdf

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Role of glutathione peroxidase 1 in glucose and lipid metabolism-related diseases.

Free Radical Biology & Medicine

Huang, Jia-Qiang JQ; Zhou, Ji-Chang JC; Wu, Yuan-Yuan YY; Ren, Fa-Zheng FZ; Lei, Xin Gen XG

Publication Date: 2018-11-01

Variant appearance in text: rs3448

PubMed Link: 29800654

Variant Present in the following documents:

• Main text

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Interaction between dietary acrylamide intake and genetic variants for estrogen receptor-positive breast cancer risk.

European Journal Of Nutrition

Hogervorst, Janneke G F JGF; van den Brandt, Piet A PA; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Schouten, Leo J LJ

Publication Date: 2019-04

Variant appearance in text: rs3448

PubMed Link: 29445914

Variant Present in the following documents:

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs3448

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs3448

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs3448

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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Interactions between dietary acrylamide intake and genes for ovarian cancer risk.

European Journal Of Epidemiology

Hogervorst, Janneke G F JGF; van den Brandt, Piet A PA; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Schouten, Leo J LJ

Publication Date: 2017-05

Variant appearance in text: rs3448

PubMed Link: 28391539

Variant Present in the following documents:

• Main text
• 10654_2017_Article_244.pdf

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The influence of single nucleotide polymorphisms on the association between dietary acrylamide intake and endometrial cancer risk.

Scientific Reports

Hogervorst, Janneke G F JG; van den Brandt, Piet A PA; Godschalk, Roger W L RW; van Schooten, Frederik-Jan FJ; Schouten, Leo J LJ

Publication Date: 2016-10-07

Variant appearance in text: rs3448

PubMed Link: 27713515

Variant Present in the following documents:

• Main text

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Signatures of Evolutionary Adaptation in Quantitative Trait Loci Influencing Trace Element Homeostasis in Liver.

Molecular Biology And Evolution

Engelken, Johannes J; Espadas, Guadalupe G; Mancuso, Francesco M FM; Bonet, Nuria N; Scherr, Anna-Lena AL; Jímenez-Álvarez, Victoria V; Codina-Solà, Marta M; Medina-Stacey, Daniel D; Spataro, Nino N; Stoneking, Mark M; Calafell, Francesc F; Sabidó, Eduard E; Bosch, Elena E

Publication Date: 2016-03

Variant appearance in text: rs3448

PubMed Link: 26582562

Variant Present in the following documents:

• Main text
• msv267.pdf

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The nutrigenetic influence of the interaction between dietary vitamin E and TXN and COMT gene polymorphisms on waist circumference: a case control study.

Journal Of Translational Medicine

Mansego, Maria L ML; De Marco, Griselda G; Ivorra, Carmen C; Lopez-Izquierdo, Raúl R; Morcillo, Sonsoles S; Rojo-Martínez, Gemma G; González-Albert, Verónica V; Martinez, Fernando F; Soriguer, Federico F; Martín-Escudero, Juan C JC; Redon, Josep J; Chaves, F Javier FJ

Publication Date: 2015-09-02

Variant appearance in text: rs3448

PubMed Link: 26329592

Variant Present in the following documents:

• Main text

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A Single Nucleotide Polymorphism in Catalase Is Strongly Associated with Ovarian Cancer Survival.

Plos One

Belotte, Jimmy J; Fletcher, Nicole M NM; Saed, Mohammed G MG; Abusamaan, Mohammed S MS; Dyson, Gregory G; Diamond, Michael P MP; Saed, Ghassan M GM

Publication Date: 2015

Variant appearance in text: rs3448

PubMed Link: 26301412

Variant Present in the following documents:

• Main text
• pone.0135739.pdf

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs3448

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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A screening-testing approach for detecting gene-environment interactions using sequential penalized and unpenalized multiple logistic regression.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Frost, H Robert HR; Andrew, Angeline S AS; Karagas, Margaret R MR; Moore, Jason H JH

Publication Date: 2015

Variant appearance in text: rs3448

PubMed Link: 25592580

Variant Present in the following documents:

• Main text

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Selenoprotein and antioxidant genes and the risk of high-grade prostate cancer and prostate cancer recurrence.

The Prostate

Gerstenberger, John P JP; Bauer, Scott R SR; Van Blarigan, Erin L EL; Sosa, Eduardo E; Song, Xiaoling X; Witte, John S JS; Carroll, Peter R PR; Chan, June M JM

Publication Date: 2015-01

Variant appearance in text: rs3448

PubMed Link: 25284284

Variant Present in the following documents:

• Main text

View BVdb publication page

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Plasma antioxidants, genetic variation in SOD2, CAT, GPX1, GPX4, and prostate cancer survival.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Van Blarigan, Erin L EL; Ma, Jing J; Kenfield, Stacey A SA; Stampfer, Meir J MJ; Sesso, Howard D HD; Giovannucci, Edward L EL; Witte, John S JS; Erdman, John W JW; Chan, June M JM; Penney, Kathryn L KL

Publication Date: 2014-06

Variant appearance in text: rs3448

PubMed Link: 24711484

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs3448

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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SEPP1 influences breast cancer risk among women with greater native american ancestry: the breast cancer health disparities study.

Plos One

Pellatt, Andrew J AJ; Wolff, Roger K RK; John, Esther M EM; Torres-Mejia, Gabriela G; Hines, Lisa M LM; Baumgartner, Kathy B KB; Giuliano, Anna R AR; Lundgreen, Abbie A; Slattery, Martha L ML

Publication Date: 2013

Variant appearance in text: rs3448

PubMed Link: 24278290

Variant Present in the following documents:

• Main text
• pone.0080554.pdf

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Role of antioxidant enzymes and small molecular weight antioxidants in the pathogenesis of age-related macular degeneration (AMD).

Biogerontology

Tokarz, Paulina P; Kaarniranta, Kai K; Blasiak, Janusz J

Publication Date: 2013-10

Variant appearance in text: rs3448

PubMed Link: 24057278

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of polymorphisms in alcohol metabolism and oxidative stress genes on survival from head and neck cancer.

Cancer Epidemiology

Hakenewerth, Anne M AM; Millikan, Robert C RC; Rusyn, Ivan I; Herring, Amy H AH; Weissler, Mark C MC; Funkhouser, William K WK; North, Kari E KE; Barnholtz-Sloan, Jill S JS; Olshan, Andrew F AF

Publication Date: 2013-08

Variant appearance in text: rs3448

PubMed Link: 23632049

Variant Present in the following documents:

• Main text

View BVdb publication page

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RHOA is a modulator of the cholesterol-lowering effects of statin.

Plos Genetics

Medina, Marisa W MW; Theusch, Elizabeth E; Naidoo, Devesh D; Bauzon, Frederick F; Stevens, Kristen K; Mangravite, Lara M LM; Kuang, Yu-Lin YL; Krauss, Ronald M RM

Publication Date: 2012

Variant appearance in text: rs3448

PubMed Link: 23166513

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variation in selenoenzyme genes and prostate cancer risk and survival.

The Prostate

Geybels, Milan S MS; Hutter, Carolyn M CM; Kwon, Erika M EM; Ostrander, Elaine A EA; Fu, Rong R; Feng, Ziding Z; Stanford, Janet L JL; Peters, Ulrike U

Publication Date: 2013-05

Variant appearance in text: rs3448

PubMed Link: 23143801

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variation in IL10 and other genes involved in the immune response and in oxidation and prostate cancer recurrence.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Dluzniewski, Paul J PJ; Wang, Ming-Hsi MH; Zheng, Siqun Lilly SL; De Marzo, Angelo M AM; Drake, Charles G CG; Fedor, Helen L HL; Partin, Alan W AW; Han, Misop M; Fallin, M Daniele MD; Xu, Jianfeng J; Isaacs, William B WB; Platz, Elizabeth A EA

Publication Date: 2012-10

Variant appearance in text: rs3448

PubMed Link: 22859398

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphism in glutamate cysteine ligase catalytic subunit (GCLC) is associated with sulfamethoxazole-induced hypersensitivity in HIV/AIDS patients.

Bmc Medical Genomics

Wang, Danxin D; Curtis, Amanda A; Papp, Audrey C AC; Koletar, Susan L SL; Para, Michael F MF

Publication Date: 2012-07-23

Variant appearance in text: rs3448

PubMed Link: 22824134

Variant Present in the following documents:

• Main text
• 1755-8794-5-32.pdf

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Selenium, selenoenzymes, oxidative stress and risk of neoplastic progression from Barrett's esophagus: results from biomarkers and genetic variants.

Plos One

Takata, Yumie Y; Kristal, Alan R AR; Santella, Regina M RM; King, Irena B IB; Duggan, David J DJ; Lampe, Johanna W JW; Rayman, Margaret P MP; Blount, Patricia L PL; Reid, Brian J BJ; Vaughan, Thomas L TL; Peters, Ulrike U

Publication Date: 2012

Variant appearance in text: rs3448

PubMed Link: 22715394

Variant Present in the following documents:

• Main text
• pone.0038612.pdf

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Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Hakenewerth, Anne M AM; Millikan, Robert C RC; Rusyn, Ivan I; Herring, Amy H AH; North, Kari E KE; Barnholtz-Sloan, Jill S JS; Funkhouser, William F WF; Weissler, Mark C MC; Olshan, Andrew F AF

Publication Date: 2011-11

Variant appearance in text: rs3448

PubMed Link: 21940907

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel polymorphisms associated with tacrolimus trough concentrations: results from a multicenter kidney transplant consortium.

Transplantation

Jacobson, Pamala A PA; Oetting, William S WS; Brearley, Ann M AM; Leduc, Robert R; Guan, Weihau W; Schladt, David D; Matas, Arthur J AJ; Lamba, Vishal V; Julian, Bruce A BA; Mannon, Rosalyn B RB; Israni, Ajay A; ,

Publication Date: 2011-02-15

Variant appearance in text: rs3448

PubMed Link: 21206424

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Mavaddat, Nasim N; Dunning, Alison M AM; Ponder, Bruce A J BA; Easton, Douglas F DF; Pharoah, Paul D PD

Publication Date: 2009-01

Variant appearance in text: rs3448

PubMed Link: 19124506

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

Bmc Genetics

Harris, Sarah E SE; Fox, Helen H; Wright, Alan F AF; Hayward, Caroline C; Starr, John M JM; Whalley, Lawrence J LJ; Deary, Ian J IJ

Publication Date: 2007-07-02

Variant appearance in text: rs3448

PubMed Link: 17601350

Variant Present in the following documents:

• Main text

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Interactions between genes involved in the antioxidant defence system and breast cancer risk.

British Journal Of Cancer

Oestergaard, M Z MZ; Tyrer, J J; Cebrian, A A; Shah, M M; Dunning, A M AM; Ponder, B A J BA; Easton, D F DF; Pharoah, P D P PD

Publication Date: 2006-08-21

Variant appearance in text: rs3448

PubMed Link: 16868544

Variant Present in the following documents:

• Main text
• 95-6603272a.pdf

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