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Results: 1 to 20 of 99

PubMed (nucleotide/PMC) for Gene (Select 26580)

1.

An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer's disease in the Han Chinese population.

Zhang F, Liu X, Wang B, Cheng Z, Zhao X, Zhu J, Wang D, Wang Y, Dong A, Li P, Jin C.

Neuropsychiatr Dis Treat. 2015 Jun 12;11:1443-8. doi: 10.2147/NDT.S85370. eCollection 2015.

2.

Do housekeeping genes exist?

Zhang Y, Li D, Sun B.

PLoS One. 2015 May 13;10(5):e0123691. doi: 10.1371/journal.pone.0123691. eCollection 2015.

3.

Damaging the Integrated HIV Proviral DNA with TALENs.

Strong CL, Guerra HP, Mathew KR, Roy N, Simpson LR, Schiller MR.

PLoS One. 2015 May 6;10(5):e0125652. doi: 10.1371/journal.pone.0125652. eCollection 2015.

4.

Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region.

Amid A, Cheong M, Eng B, Hanna M, Hohenadel BA, Nakamura LM, Walker L, Odame I, Kirby-Allen M, Waye JS.

Haematologica. 2015 May;100(5):e166-8. doi: 10.3324/haematol.2014.117408. Epub 2015 Feb 14. No abstract available.

5.

Genetics of transfusion recipient alloimmunization: can clues from susceptibility to autoimmunity pave the way?

Tatari-Calderone Z, Luban NL, Vukmanovic S.

Transfus Med Hemother. 2014 Nov;41(6):436-45. doi: 10.1159/000369145. Epub 2014 Nov 17. Review.

6.

Extending reference assembly models.

Church DM, Schneider VA, Steinberg KM, Schatz MC, Quinlan AR, Chin CS, Kitts PA, Aken B, Marth GT, Hoffman MM, Herrero J, Mendoza ML, Durbin R, Flicek P.

Genome Biol. 2015 Jan 24;16:13. doi: 10.1186/s13059-015-0587-3.

7.

Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio.

Bodian DL, Solomon BD, Khromykh A, Thach DC, Iyer RK, Link K, Baker RL, Baveja R, Vockley JG, Niederhuber JE.

Mol Genet Genomic Med. 2014 Nov;2(6):530-8. doi: 10.1002/mgg3.107. Epub 2014 Aug 26.

8.

Can pharmacogenetics explain efficacy and safety of cisplatin pharmacotherapy?

Roco A, Cayún J, Contreras S, Stojanova J, Quiñones L.

Front Genet. 2014 Nov 14;5:391. doi: 10.3389/fgene.2014.00391. eCollection 2014. Review.

9.

Single haplotype assembly of the human genome from a hydatidiform mole.

Steinberg KM, Schneider VA, Graves-Lindsay TA, Fulton RS, Agarwala R, Huddleston J, Shiryev SA, Morgulis A, Surti U, Warren WC, Church DM, Eichler EE, Wilson RK.

Genome Res. 2014 Dec;24(12):2066-76. doi: 10.1101/gr.180893.114. Epub 2014 Nov 4.

10.

Nonlinear quantitative radiation sensitivity prediction model based on NCI-60 cancer cell lines.

Zhang C, Girard L, Das A, Chen S, Zheng G, Song K.

ScientificWorldJournal. 2014;2014:903602. doi: 10.1155/2014/903602. Epub 2014 Jun 17.

11.

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Høyer H, Braathen GJ, Busk ØL, Holla ØL, Svendsen M, Hilmarsen HT, Strand L, Skjelbred CF, Russell MB.

Biomed Res Int. 2014;2014:210401. doi: 10.1155/2014/210401. Epub 2014 Jun 16.

12.

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

Schuster J, Khan TN, Tariq M, Shaiq PA, Mäbert K, Baig SM, Klar J.

BMC Med Genet. 2014 Jun 24;15:71. doi: 10.1186/1471-2350-15-71.

13.

Lack of testicular seipin causes teratozoospermia syndrome in men.

Jiang M, Gao M, Wu C, He H, Guo X, Zhou Z, Yang H, Xiao X, Liu G, Sha J.

Proc Natl Acad Sci U S A. 2014 May 13;111(19):7054-9. doi: 10.1073/pnas.1324025111. Epub 2014 Apr 28.

14.

Analysis of naturally occurring mutations in the human lipodystrophy protein seipin reveals multiple potential pathogenic mechanisms.

Sim MF, Talukder MM, Dennis RJ, O'Rahilly S, Edwardson JM, Rochford JJ.

Diabetologia. 2013 Nov;56(11):2498-506. doi: 10.1007/s00125-013-3029-3. Epub 2013 Aug 30.

15.

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

Ylikallio E, Johari M, Konovalova S, Moilanen JS, Kiuru-Enari S, Auranen M, Pajunen L, Tyynismaa H.

Eur J Hum Genet. 2014 Apr;22(4):522-7. doi: 10.1038/ejhg.2013.190. Epub 2013 Aug 21.

16.

A mutation in the c-fos gene associated with congenital generalized lipodystrophy.

Knebel B, Kotzka J, Lehr S, Hartwig S, Avci H, Jacob S, Nitzgen U, Schiller M, März W, Hoffmann MM, Seemanova E, Haas J, Muller-Wieland D.

Orphanet J Rare Dis. 2013 Aug 7;8:119. doi: 10.1186/1750-1172-8-119.

17.

A novel PAX6 deletion in a Chinese family with congenital aniridia.

Chen JH, Lin W, Sun G, Huang C, Huang Y, Chen H, Pang CP, Zhang M.

Mol Vis. 2012;18:989-95. Epub 2012 Apr 21.

18.

Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies.

Piluso G, Aurino S, Cacciottolo M, Del Vecchio Blanco F, Lancioni A, Rotundo IL, Torella A, Nigro V.

Acta Myol. 2010 Jul;29(1):1-20. Review.

19.

Increased complexity of Tmem16a/Anoctamin 1 transcript alternative splicing.

O'Driscoll KE, Pipe RA, Britton FC.

BMC Mol Biol. 2011 Aug 8;12:35. doi: 10.1186/1471-2199-12-35.

20.

Genome wide analysis of the bovine mucin genes and their gastrointestinal transcription profile.

Hoorens PR, Rinaldi M, Li RW, Goddeeris B, Claerebout E, Vercruysse J, Geldhof P.

BMC Genomics. 2011 Mar 7;12:140. doi: 10.1186/1471-2164-12-140.

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