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Items: 22

1.

A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.

Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff S.

J Clin Endocrinol Metab. 2015 Jan;100(1):E173-81. doi: 10.1210/jc.2014-3490.

2.

Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.

Hayes MG, Urbanek M, Hivert MF, Armstrong LL, Morrison J, Guo C, Lowe LP, Scheftner DA, Pluzhnikov A, Levine DM, McHugh CP, Ackerman CM, Bouchard L, Brisson D, Layden BT, Mirel D, Doheny KF, Leya MV, Lown-Hecht RN, Dyer AR, Metzger BE, Reddy TE, Cox NJ, Lowe WL Jr; HAPO Study Cooperative Research Group.

Diabetes. 2013 Sep;62(9):3282-91. doi: 10.2337/db12-1692. Epub 2013 Jul 31. Erratum in: Diabetes. 2013 Oct;62(10):3641.

3.

Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.

Perera MA, Cavallari LH, Limdi NA, Gamazon ER, Konkashbaev A, Daneshjou R, Pluzhnikov A, Crawford DC, Wang J, Liu N, Tatonetti N, Bourgeois S, Takahashi H, Bradford Y, Burkley BM, Desnick RJ, Halperin JL, Khalifa SI, Langaee TY, Lubitz SA, Nutescu EA, Oetjens M, Shahin MH, Patel SR, Sagreiya H, Tector M, Weck KE, Rieder MJ, Scott SA, Wu AH, Burmester JK, Wadelius M, Deloukas P, Wagner MJ, Mushiroda T, Kubo M, Roden DM, Cox NJ, Altman RB, Klein TE, Nakamura Y, Johnson JA.

Lancet. 2013 Aug 31;382(9894):790-6. doi: 10.1016/S0140-6736(13)60681-9. Epub 2013 Jun 5.

4.

The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.

Urbanek M, Hayes MG, Armstrong LL, Morrison J, Lowe LP, Badon SE, Scheftner D, Pluzhnikov A, Levine D, Laurie CC, McHugh C, Ackerman CM, Mirel DB, Doheny KF, Guo C, Scholtens DM, Dyer AR, Metzger BE, Reddy TE, Cox NJ, Lowe WL Jr; HAPO Study Cooperative Research Group.

Hum Mol Genet. 2013 Sep 1;22(17):3583-96. doi: 10.1093/hmg/ddt168. Epub 2013 Apr 10.

5.

Genome-wide association study of Tourette's syndrome.

Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A; North American Brain Expression Consortium, Hardy J; UK Human Brain Expression Database, Strengman E, Ophoff RA, Wagner M, Moessner R, Mirel DB, Posthuma D, Sabatti C, Eskin E, Conti DV, Knowles JA, Ruiz-Linares A, Rouleau GA, Purcell S, Heutink P, Oostra BA, McMahon WM, Freimer NB, Cox NJ, Pauls DL.

Mol Psychiatry. 2013 Jun;18(6):721-8. doi: 10.1038/mp.2012.69. Epub 2012 Aug 14.

6.

Genome-wide association study of obsessive-compulsive disorder.

Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, Davis LK, Osiecki L, McGrath L, Haddad S, Crane J, Hezel D, Illman C, Mayerfeld C, Konkashbaev A, Liu C, Pluzhnikov A, Tikhomirov A, Edlund CK, Rauch SL, Moessner R, Falkai P, Maier W, Ruhrmann S, Grabe HJ, Lennertz L, Wagner M, Bellodi L, Cavallini MC, Richter MA, Cook EH Jr, Kennedy JL, Rosenberg D, Stein DJ, Hemmings SM, Lochner C, Azzam A, Chavira DA, Fournier E, Garrido H, Sheppard B, Umaña P, Murphy DL, Wendland JR, Veenstra-VanderWeele J, Denys D, Blom R, Deforce D, Van Nieuwerburgh F, Westenberg HG, Walitza S, Egberts K, Renner T, Miguel EC, Cappi C, Hounie AG, Conceição do Rosário M, Sampaio AS, Vallada H, Nicolini H, Lanzagorta N, Camarena B, Delorme R, Leboyer M, Pato CN, Pato MT, Voyiaziakis E, Heutink P, Cath DC, Posthuma D, Smit JH, Samuels J, Bienvenu OJ, Cullen B, Fyer AJ, Grados MA, Greenberg BD, McCracken JT, Riddle MA, Wang Y, Coric V, Leckman JF, Bloch M, Pittenger C, Eapen V, Black DW, Ophoff RA, Strengman E, Cusi D, Turiel M, Frau F, Macciardi F, Gibbs JR, Cookson MR, Singleton A; North American Brain Expression Consortium, Hardy J; UK Brain Expression Database, Crenshaw AT, Parkin MA, Mirel DB, Conti DV, Purcell S, Nestadt G, Hanna GL, Jenike MA, Knowles JA, Cox N, Pauls DL.

Mol Psychiatry. 2013 Jul;18(7):788-98. doi: 10.1038/mp.2012.85. Epub 2012 Aug 14. Erratum in: Mol Psychiatry. 2013 Jul;18(7):843. Davis, L K [added].

7.

Identifying plausible genetic models based on association and linkage results: application to type 2 diabetes.

Guan W, Boehnke M, Pluzhnikov A, Cox NJ, Scott LJ.

Genet Epidemiol. 2012 Dec;36(8):820-8. doi: 10.1002/gepi.21668. Epub 2012 Aug 3.

8.

Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals.

Below JE, Gamazon ER, Morrison JV, Konkashbaev A, Pluzhnikov A, McKeigue PM, Parra EJ, Elbein SC, Hallman DM, Nicolae DL, Bell GI, Cruz M, Cox NJ, Hanis CL.

Diabetologia. 2011 Aug;54(8):2047-55. doi: 10.1007/s00125-011-2188-3. Epub 2011 Jun 7.

9.

Spoiling the whole bunch: quality control aimed at preserving the integrity of high-throughput genotyping.

Pluzhnikov A, Below JE, Konkashbaev A, Tikhomirov A, Kistner-Griffin E, Roe CA, Nicolae DL, Cox NJ.

Am J Hum Genet. 2010 Jul 9;87(1):123-8. doi: 10.1016/j.ajhg.2010.06.005.

10.

Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium.

Guan W, Pluzhnikov A, Cox NJ, Boehnke M; International Type 2 Diabetes Linkage Analysis Consortium.

Hum Hered. 2008;66(1):35-49. doi: 10.1159/000114164. Epub 2007 Jan 28. Erratum in: Hum Hered. 2008;66(4):237.

11.

Insulin gene mutations as a cause of permanent neonatal diabetes.

Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group.

Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. Epub 2007 Sep 12.

12.

Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies.

Hayes MG, Pluzhnikov A, Miyake K, Sun Y, Ng MC, Roe CA, Below JE, Nicolae RI, Konkashbaev A, Bell GI, Cox NJ, Hanis CL.

Diabetes. 2007 Dec;56(12):3033-44. Epub 2007 Sep 10.

13.

Correlation of intergenerational family sizes suggests a genetic component of reproductive fitness.

Pluzhnikov A, Nolan DK, Tan Z, McPeek MS, Ober C.

Am J Hum Genet. 2007 Jul;81(1):165-9. Epub 2007 May 2.

14.

Combined analysis of three whole genome linkage scans for Ankylosing Spondylitis.

Carter KW, Pluzhnikov A, Timms AE, Miceli-Richard C, Bourgain C, Wordsworth BP, Jean-Pierre H, Cox NJ, Palmer LJ, Breban M, Reveille JD, Brown MA.

Rheumatology (Oxford). 2007 May;46(5):763-71. Epub 2007 Jan 27.

PMID:
17259653
15.

New complexities in the genetics of stuttering: significant sex-specific linkage signals.

Suresh R, Ambrose N, Roe C, Pluzhnikov A, Wittke-Thompson JK, Ng MC, Wu X, Cook EH, Lundstrom C, Garsten M, Ezrati R, Yairi E, Cox NJ.

Am J Hum Genet. 2006 Apr;78(4):554-63. Epub 2006 Feb 1.

16.

Rational inferences about departures from Hardy-Weinberg equilibrium.

Wittke-Thompson JK, Pluzhnikov A, Cox NJ.

Am J Hum Genet. 2005 Jun;76(6):967-86. Epub 2005 Apr 15.

17.

Genomewide significant linkage to stuttering on chromosome 12.

Riaz N, Steinberg S, Ahmad J, Pluzhnikov A, Riazuddin S, Cox NJ, Drayna D.

Am J Hum Genet. 2005 Apr;76(4):647-51. Epub 2005 Feb 15.

18.

Evidence for gene-environment interactions in a linkage study of asthma and smoking exposure.

Colilla S, Nicolae D, Pluzhnikov A, Blumenthal MN, Beaty TH, Bleecker ER, Lange EM, Rich SS, Meyers DA, Ober C, Cox NJ; Collaborative Study for the Genetics of Asthma.

J Allergy Clin Immunol. 2003 Apr;111(4):840-6.

PMID:
12704367
19.

Inferences about human demography based on multilocus analyses of noncoding sequences.

Pluzhnikov A, Di Rienzo A, Hudson RR.

Genetics. 2002 Jul;161(3):1209-18.

20.

Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues.

Nekhaeva E, Bodyak ND, Kraytsberg Y, McGrath SB, Van Orsouw NJ, Pluzhnikov A, Wei JY, Vijg J, Khrapko K.

Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5521-6. Epub 2002 Apr 9.

21.

Optimal sequencing strategies for surveying molecular genetic diversity.

Pluzhnikov A, Donnelly P.

Genetics. 1996 Nov;144(3):1247-62.

22.

[Some improvements in the apparatus for deep irrigation of the gastrointestinal tract].

Pluzhnikov AF.

Vopr Kurortol Fizioter Lech Fiz Kult. 1971;36(1):80-1. Russian. No abstract available.

PMID:
5089529

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