Publications:

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: CFH: 428-219T>C; rs1329423

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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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: rs1329423

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival.

Bmc Medical Genetics

Baecklund, Fredrik F; Foo, Jia-Nee JN; Bracci, Paige P; Darabi, Hatef H; Karlsson, Robert R; Hjalgrim, Henrik H; Rosenquist, Richard R; Adami, Hans-Olov HO; Glimelius, Bengt B; Melbye, Mads M; Conde, Lucia L; Liu, Jianjun J; Humphreys, Keith K; Skibola, Christine F CF; Smedby, Karin E KE

Publication Date: 2014-10-08

Variant appearance in text: rs1329423

PubMed Link: 25294155

Variant Present in the following documents:

• Main text
• 12881_2014_Article_113.pdf

View BVdb publication page

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The associations between immunity-related genes and breast cancer prognosis in Korean women.

Plos One

Choi, Jaesung J; Song, Nan N; Han, Sohee S; Chung, Seokang S; Sung, Hyuna H; Lee, Ji-young JY; Jung, Sunjae S; Park, Sue K SK; Yoo, Keun-Young KY; Han, Wonshik W; Lee, Jong Won JW; Noh, Dong-Young DY; Kang, Daehee D; Choi, Ji-Yeob JY

Publication Date: 2014

Variant appearance in text: rs1329423

PubMed Link: 25075970

Variant Present in the following documents:

• Main text
• pone.0103593.pdf

View BVdb publication page

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Germline variation in complement genes and event-free survival in follicular and diffuse large B-cell lymphoma.

American Journal Of Hematology

Charbonneau, Bridget B; Maurer, Matthew J MJ; Fredericksen, Zachary S ZS; Zent, Clive S CS; Link, Brian K BK; Novak, Anne J AJ; Ansell, Stephen M SM; Weiner, George J GJ; Wang, Alice H AH; Witzig, Thomas E TE; Dogan, Ahmet A; Slager, Susan L SL; Habermann, Thomas M TM; Cerhan, James R JR

Publication Date: 2012-09

Variant appearance in text: rs1329423

PubMed Link: 22718493

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS.

Molecular Immunology

Ermini, Luca L; Goodship, Timothy H J TH; Strain, Lisa L; Weale, Michael E ME; Sacks, Steven H SH; Cordell, Heather J HJ; Fremeaux-Bacchi, Veronique V; Sheerin, Neil S NS

Publication Date: 2012-01

Variant appearance in text: rs1329423

PubMed Link: 22153652

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.

Plos Genetics

Zhao, Jian J; Wu, Hui H; Khosravi, Melanie M; Cui, Huijuan H; Qian, Xiaoxia X; Kelly, Jennifer A JA; Kaufman, Kenneth M KM; Langefeld, Carl D CD; Williams, Adrienne H AH; Comeau, Mary E ME; Ziegler, Julie T JT; Marion, Miranda C MC; Adler, Adam A; Glenn, Stuart B SB; Alarcón-Riquelme, Marta E ME; , ; , ; Pons-Estel, Bernardo A BA; Harley, John B JB; Bae, Sang-Cheol SC; Bang, So-Young SY; Cho, Soo-Kyung SK; Jacob, Chaim O CO; Vyse, Timothy J TJ; Niewold, Timothy B TB; Gaffney, Patrick M PM; Moser, Kathy L KL; Kimberly, Robert P RP; Edberg, Jeffrey C JC; Brown, Elizabeth E EE; Alarcon, Graciela S GS; Petri, Michelle A MA; Ramsey-Goldman, Rosalind R; Vilá, Luis M LM; Reveille, John D JD; James, Judith A JA; Gilkeson, Gary S GS; Kamen, Diane L DL; Freedman, Barry I BI; Anaya, Juan-Manuel JM; Merrill, Joan T JT; Criswell, Lindsey A LA; Scofield, R Hal RH; Stevens, Anne M AM; Guthridge, Joel M JM; Chang, Deh-Ming DM; Song, Yeong Wook YW; Park, Ji Ah JA; Lee, Eun Young EY; Boackle, Susan A SA; Grossman, Jennifer M JM; Hahn, Bevra H BH; Goodship, Timothy H J TH; Cantor, Rita M RM; Yu, Chack-Yung CY; Shen, Nan N; Tsao, Betty P BP

Publication Date: 2011-05

Variant appearance in text: rs1329423

PubMed Link: 21637784

Variant Present in the following documents:

• pgen.1002079.s001.xls, sheet 1

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Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.

Journal Of Ocular Biology, Diseases, And Informatics

Goto, Asako A; Akahori, Masakazu M; Okamoto, Haru H; Minami, Masayoshi M; Terauchi, Naoki N; Haruhata, Yuji Y; Obazawa, Minoru M; Noda, Toru T; Honda, Miki M; Mizota, Atsushi A; Tanaka, Minoru M; Hayashi, Takaaki T; Tanito, Masaki M; Ogata, Naoko N; Iwata, Takeshi T

Publication Date: 2009-12-22

Variant appearance in text: rs1329423

PubMed Link: 20157352

Variant Present in the following documents:

• Main text
• 12177_2009_Article_9047.pdf

View BVdb publication page

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