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Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.

Elimam AA, Aabdein MEMM, Eldeen MEM, Altayb HN, Taha MA, Nimir MN, Dafaalla MD, Alfaki MM, Abdelrahim MA, Abdalla AA, Mohammed MI, Ellaithi M, Hamid MMA, Hassan MAS.

BMC Med Genet. 2017 Aug 16;18(1):85. doi: 10.1186/s12881-017-0448-x.


Interaction between obesity and the Hypoxia Inducible Factor 3 Alpha Subunit rs3826795 polymorphism in relation with plasma alanine aminotransferase.

Wang S, Song J, Yang Y, Zhang Y, Chawla NV, Ma J, Wang H.

BMC Med Genet. 2017 Jul 28;18(1):80. doi: 10.1186/s12881-017-0437-0.


Distinguishing functional polymorphism from random variation in the sequences of >10,000 HLA-A, -B and -C alleles.

Robinson J, Guethlein LA, Cereb N, Yang SY, Norman PJ, Marsh SGE, Parham P.

PLoS Genet. 2017 Jun 26;13(6):e1006862. doi: 10.1371/journal.pgen.1006862. eCollection 2017 Jun.


Evaluation of molecular diagnostic approaches for the detection of BRAF p.V600E mutations in papillary thyroid cancer: Clinical implications.

Kowalik A, Kowalska A, Walczyk A, Chodurska R, Kopczyński J, Chrapek M, Wypiórkiewicz E, Chłopek M, Pięciak L, Gąsior-Perczak D, Pałyga I, Gruszczyński K, Nowak E, Góźdź S.

PLoS One. 2017 Jun 21;12(6):e0179691. doi: 10.1371/journal.pone.0179691. eCollection 2017.


DNA repair genes polymorphisms and genetic susceptibility to Philadelphia-negative myeloproliferative neoplasms in a Portuguese population: The role of base excision repair genes polymorphisms.

Azevedo AP, Silva SN, De Lima JP, Reichert A, Lima F, Júnior E, Rueff J.

Oncol Lett. 2017 Jun;13(6):4641-4650. doi: 10.3892/ol.2017.6065. Epub 2017 Apr 21.


The carriage of interleukin-1B-31*C allele plus Staphylococcus aureus and Haemophilus influenzae increases the risk of recurrent tonsillitis in a Mexican population.

González-Andrade B, Santos-Lartigue R, Flores-Treviño S, Ramirez-Ochoa NS, Bocanegra-Ibarias P, Huerta-Torres FJ, Mendoza-Olazarán S, Villarreal-Treviño L, Camacho-Ortiz A, Villarreal-Vázquez H, Garza-González E.

PLoS One. 2017 May 24;12(5):e0178115. doi: 10.1371/journal.pone.0178115. eCollection 2017.


Pharmacogenetic testing revisited: 5' nuclease real-time polymerase chain reaction test panels for genotyping CYP2D6 and CYP2C19.

Larsen JB, Rasmussen JB.

Pharmgenomics Pers Med. 2017 Apr 18;10:115-128. doi: 10.2147/PGPM.S131580. eCollection 2017.


Functional genetic variants within the SIRT2 gene promoter in acute myocardial infarction.

Yang W, Gao F, Zhang P, Pang S, Cui Y, Liu L, Wei G, Yan B.

PLoS One. 2017 Apr 26;12(4):e0176245. doi: 10.1371/journal.pone.0176245. eCollection 2017.


Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data.

White CC, Yang HS, Yu L, Chibnik LB, Dawe RJ, Yang J, Klein HU, Felsky D, Ramos-Miguel A, Arfanakis K, Honer WG, Sperling RA, Schneider JA, Bennett DA, De Jager PL.

PLoS Med. 2017 Apr 25;14(4):e1002287. doi: 10.1371/journal.pmed.1002287. eCollection 2017 Apr.


SNP Discovery and Genetic Variation of Candidate Genes Relevant to Heat Tolerance and Agronomic Traits in Natural Populations of Sand Rice (<i>Agriophyllum squarrosum</i>).

Zhao P, Zhang J, Qian C, Zhou Q, Zhao X, Chen G, Ma XF.

Front Plant Sci. 2017 Apr 7;8:536. doi: 10.3389/fpls.2017.00536. eCollection 2017.


Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population.

Cai X, Huang W, Liu X, Wang L, Jiang Y.

BMC Med Genet. 2017 Apr 20;18(1):43. doi: 10.1186/s12881-017-0405-8.


The within-host population dynamics of Mycobacterium tuberculosis vary with treatment efficacy.

Trauner A, Liu Q, Via LE, Liu X, Ruan X, Liang L, Shi H, Chen Y, Wang Z, Liang R, Zhang W, Wei W, Gao J, Sun G, Brites D, England K, Zhang G, Gagneux S, Barry CE 3rd, Gao Q.

Genome Biol. 2017 Apr 19;18(1):71. doi: 10.1186/s13059-017-1196-0.


The rs1550117 A>G variant in DNMT3A gene promoter significantly increases non-small cell lung cancer susceptibility in a Han Chinese population.

Wang J, Li C, Wan F, Li Z, Zhang J, Zhang J, Feng X, Tang L, Chen B.

Oncotarget. 2017 Apr 4;8(14):23470-23478. doi: 10.18632/oncotarget.15625.


SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men.

Hirvonen K, Laivuori H, Lahti J, Strandberg T, Eriksson JG, Hackman P.

BMC Med Genet. 2017 Apr 11;18(1):41. doi: 10.1186/s12881-017-0401-z.


Characterization of Plasmodium falciparum genes associated with drug resistance in Hodh Elgharbi, a malaria hotspot near Malian-Mauritanian border.

Ould Ahmedou Salem MS, Mint Lekweiry K, Bouchiba H, Pascual A, Pradines B, Ould Mohamed Salem Boukhary A, Briolant S, Basco LK, Bogreau H.

Malar J. 2017 Apr 5;16(1):140. doi: 10.1186/s12936-017-1791-2.


Toll-like receptors genes polymorphisms and the occurrence of HCMV infection among pregnant women.

Wujcicka W, Paradowska E, Studzińska M, Wilczyński J, Nowakowska D.

Virol J. 2017 Mar 24;14(1):64. doi: 10.1186/s12985-017-0730-8.


Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.

Yamada Y, Sakuma J, Takeuchi I, Yasukochi Y, Kato K, Oguri M, Fujimaki T, Horibe H, Muramatsu M, Sawabe M, Fujiwara Y, Taniguchi Y, Obuchi S, Kawai H, Shinkai S, Mori S, Arai T, Tanaka M.

Int J Mol Med. 2017 May;39(5):1091-1100. doi: 10.3892/ijmm.2017.2927. Epub 2017 Mar 21.


Lessons learned from additional research analyses of unsolved clinical exome cases.

Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, Schaaf CP, Wangler MF, Bacino CA, Lewis RA, Potocki L, Graham BH, Belmont JW, Scaglia F, Orange JS, Jhangiani SN, Chiang T, Doddapaneni H, Hu J, Muzny DM, Xia F, Beaudet AL, Boerwinkle E, Eng CM, Plon SE, Sutton VR, Gibbs RA, Posey JE, Yang Y, Lupski JR.

Genome Med. 2017 Mar 21;9(1):26. doi: 10.1186/s13073-017-0412-6.


Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.

Basit S, Albalawi AM, Alharby E, Khoshhal KI.

BMC Med Genet. 2017 Mar 21;18(1):34. doi: 10.1186/s12881-017-0393-8.


Quantification of resistant alleles in the β-tubulin gene of field strains of gastrointestinal nematodes and their relation with the faecal egg count reduction test.

Esteban-Ballesteros M, Rojo-Vázquez FA, Skuce PJ, Melville L, González-Lanza C, Martínez-Valladares M.

BMC Vet Res. 2017 Mar 20;13(1):71. doi: 10.1186/s12917-017-0992-9.

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