Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 45

1.

Rare variants create synthetic genome-wide associations.

Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB.

PLoS Biol. 2010 Jan 26;8(1):e1000294. doi: 10.1371/journal.pbio.1000294.

2.

A powerful approach to sub-phenotype analysis in population-based genetic association studies.

Morris AP, Lindgren CM, Zeggini E, Timpson NJ, Frayling TM, Hattersley AT, McCarthy MI.

Genet Epidemiol. 2010 May;34(4):335-43. doi: 10.1002/gepi.20486.

3.

FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate.

Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J, Valencia-Ramirez C, Rivera D, López AM, Moreno MA, Hing A, Lammer EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines P, Pugh E, Doheny K, Arcos-Burgos M, Marazita ML, Murray JC, Lidral AC.

Hum Mol Genet. 2009 Dec 15;18(24):4879-96. doi: 10.1093/hmg/ddp444. Epub 2009 Sep 24.

4.

A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance.

Grosen D, Chevrier C, Skytthe A, Bille C, Mølsted K, Sivertsen A, Murray JC, Christensen K.

J Med Genet. 2010 Mar;47(3):162-8. doi: 10.1136/jmg.2009.069385. Epub 2009 Sep 14.

5.

Targeted capture and massively parallel sequencing of 12 human exomes.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J.

Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.

6.

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

Grant SF, Wang K, Zhang H, Glaberson W, Annaiah K, Kim CE, Bradfield JP, Glessner JT, Thomas KA, Garris M, Frackelton EC, Otieno FG, Chiavacci RM, Nah HD, Kirschner RE, Hakonarson H.

J Pediatr. 2009 Dec;155(6):909-13. doi: 10.1016/j.jpeds.2009.06.020. Epub 2009 Aug 4.

PMID:
19656524
7.

The genetics of isolated orofacial clefts: from genotypes to subphenotypes.

Jugessur A, Farlie PG, Kilpatrick N.

Oral Dis. 2009 Oct;15(7):437-53. doi: 10.1111/j.1601-0825.2009.01577.x. Epub 2009 Jul 2. Review.

PMID:
19583827
8.

Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.

Marazita ML, Lidral AC, Murray JC, Field LL, Maher BS, Goldstein McHenry T, Cooper ME, Govil M, Daack-Hirsch S, Riley B, Jugessur A, Felix T, Morene L, Mansilla MA, Vieira AR, Doheny K, Pugh E, Valencia-Ramirez C, Arcos-Burgos M.

Hum Hered. 2009;68(3):151-70. doi: 10.1159/000224636. Epub 2009 Jun 11.

9.

Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004.

Genisca AE, Frías JL, Broussard CS, Honein MA, Lammer EJ, Moore CA, Shaw GM, Murray JC, Yang W, Rasmussen SA; National Birth Defects Prevention Study.

Am J Med Genet A. 2009 Jun;149A(6):1149-58. doi: 10.1002/ajmg.a.32854.

10.

Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia.

Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Trung TN, Bille C, Lidral AC, Murray JC.

PLoS One. 2009;4(4):e5385. doi: 10.1371/journal.pone.0005385. Epub 2009 Apr 29.

11.

Using case-parent triads to estimate relative risks associated with a candidate haplotype.

Shi M, Umbach DM, Weinberg CR.

Ann Hum Genet. 2009 May;73(Pt 3):346-59. doi: 10.1111/j.1469-1809.2009.00515.x. Epub 2009 Mar 25.

12.

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, Hehr U, Dixon MJ, Daack-Hirsch S, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC.

Genet Med. 2009 Apr;11(4):241-7. doi: 10.1097/GIM.0b013e318197a49a.

13.

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M, Baluardo C, Ferrian M, Almeida de Assis N, Alblas MA, Barth S, Freudenberg J, Lauster C, Schmidt G, Scheer M, Braumann B, Bergé SJ, Reich RH, Schiefke F, Hemprich A, Pötzsch S, Steegers-Theunissen RP, Pötzsch B, Moebus S, Horsthemke B, Kramer FJ, Wienker TF, Mossey PA, Propping P, Cichon S, Hoffmann P, Knapp M, Nöthen MM, Mangold E.

Nat Genet. 2009 Apr;41(4):473-7. doi: 10.1038/ng.333. Epub 2009 Mar 8.

PMID:
19270707
14.

Identification of microdeletions in candidate genes for cleft lip and/or palate.

Shi M, Mostowska A, Jugessur A, Johnson MK, Mansilla MA, Christensen K, Lie RT, Wilcox AJ, Murray JC.

Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):42-51. doi: 10.1002/bdra.20571.

15.

Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.

Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC.

Nat Genet. 2008 Nov;40(11):1341-7. doi: 10.1038/ng.242. Epub 2008 Oct 5.

16.

Systematic assessment of copy number variant detection via genome-wide SNP genotyping.

Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA.

Nat Genet. 2008 Oct;40(10):1199-203. doi: 10.1038/ng.236. Epub 2008 Sep 7.

17.

Genes mirror geography within Europe.

Novembre J, Johnson T, Bryc K, Kutalik Z, Boyko AR, Auton A, Indap A, King KS, Bergmann S, Nelson MR, Stephens M, Bustamante CD.

Nature. 2008 Nov 6;456(7218):98-101. doi: 10.1038/nature07331. Epub 2008 Aug 31. Erratum in: Nature. 2008 Nov 13;456(7219):274.

18.

Rethinking isolated cleft palate: evidence of occult lip defects in a subset of cases.

Weinberg SM, Brandon CA, McHenry TH, Neiswanger K, Deleyiannis FW, de Salamanca JE, Castilla EE, Czeizel AE, Vieira AR, Marazita ML.

Am J Med Genet A. 2008 Jul 1;146A(13):1670-5. doi: 10.1002/ajmg.a.32291.

PMID:
18536047
19.

Mapping and sequencing of structural variation from eight human genomes.

Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tüzün E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE.

Nature. 2008 May 1;453(7191):56-64. doi: 10.1038/nature06862.

20.

Genetic flip-flop without an accompanying change in linkage disequilibrium.

Zaykin DV, Shibata K.

Am J Hum Genet. 2008 Mar;82(3):794-6; author reply 796-7. doi: 10.1016/j.ajhg.2008.02.001. No abstract available.

Supplemental Content

Support Center