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Items: 1 to 20 of 510

1.

How will genomic information become integrated into the health care system?

Francke U.

Mol Genet Genomic Med. 2013 Jul;1(2):67-70. doi: 10.1002/mgg3.26. No abstract available.

2.

A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

Hinds DA, McMahon G, Kiefer AK, Do CB, Eriksson N, Evans DM, St Pourcain B, Ring SM, Mountain JL, Francke U, Davey-Smith G, Timpson NJ, Tung JY.

Nat Genet. 2013 Aug;45(8):907-11. doi: 10.1038/ng.2686. Epub 2013 Jun 30.

3.

Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.

Francke U, Dijamco C, Kiefer AK, Eriksson N, Moiseff B, Tung JY, Mountain JL.

PeerJ. 2013 Feb 12;1:e8. doi: 10.7717/peerj.8. Print 2013.

4.

Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

Tung JY, Kiefer AK, Mullins M, Francke U, Eriksson N.

J Invest Dermatol. 2013 Nov;133(11):2628-31. doi: 10.1038/jid.2013.196. Epub 2013 Apr 30. No abstract available.

5.

2012 William Allan Award: Adventures in cytogenetics.

Francke U.

Am J Hum Genet. 2013 Mar 7;92(3):325-37. doi: 10.1016/j.ajhg.2013.01.010. No abstract available.

6.

Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.

Kiefer AK, Tung JY, Do CB, Hinds DA, Mountain JL, Francke U, Eriksson N.

PLoS Genet. 2013;9(2):e1003299. doi: 10.1371/journal.pgen.1003299. Epub 2013 Feb 28.

7.

Comparison of family history and SNPs for predicting risk of complex disease.

Do CB, Hinds DA, Francke U, Eriksson N.

PLoS Genet. 2012;8(10):e1002973. doi: 10.1371/journal.pgen.1002973. Epub 2012 Oct 11.

8.

Genetic variants associated with breast size also influence breast cancer risk.

Eriksson N, Benton GM, Do CB, Kiefer AK, Mountain JL, Hinds DA, Francke U, Tung JY.

BMC Med Genet. 2012 Jun 30;13:53. doi: 10.1186/1471-2350-13-53.

9.

Novel associations for hypothyroidism include known autoimmune risk loci.

Eriksson N, Tung JY, Kiefer AK, Hinds DA, Francke U, Mountain JL, Do CB.

PLoS One. 2012;7(4):e34442. doi: 10.1371/journal.pone.0034442. Epub 2012 Apr 6.

10.

Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.

Campuzano V, Segura-Puimedon M, Terrado V, Sánchez-Rodríguez C, Coustets M, Menacho-Márquez M, Nevado J, Bustelo XR, Francke U, Pérez-Jurado LA.

PLoS Genet. 2012 Feb;8(2):e1002458. doi: 10.1371/journal.pgen.1002458. Epub 2012 Feb 2.

11.

Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells.

Quarto N, Leonard B, Li S, Marchand M, Anderson E, Behr B, Francke U, Reijo-Pera R, Chiao E, Longaker MT.

Proc Natl Acad Sci U S A. 2012 Jan 3;109(1):215-20. doi: 10.1073/pnas.1113442109. Epub 2011 Dec 16.

12.

Efficient replication of over 180 genetic associations with self-reported medical data.

Tung JY, Do CB, Hinds DA, Kiefer AK, Macpherson JM, Chowdry AB, Francke U, Naughton BT, Mountain JL, Wojcicki A, Eriksson N.

PLoS One. 2011;6(8):e23473. doi: 10.1371/journal.pone.0023473. Epub 2011 Aug 17.

13.

Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, Francke U, Mountain JL, Goldman SM, Tanner CM, Langston JW, Wojcicki A, Eriksson N.

PLoS Genet. 2011 Jun;7(6):e1002141. doi: 10.1371/journal.pgen.1002141. Epub 2011 Jun 23.

14.

The new Ghent criteria for Marfan syndrome: what do they change?

Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson PN, De Backer J, Coucke P, Francke U, Bouchot O, Wolf JE, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G.

Clin Genet. 2012 May;81(5):433-42. doi: 10.1111/j.1399-0004.2011.01703.x. Epub 2011 Jun 2.

PMID:
21564093
15.

Control of bone formation by the serpentine receptor Frizzled-9.

Albers J, Schulze J, Beil FT, Gebauer M, Baranowsky A, Keller J, Marshall RP, Wintges K, Friedrich FW, Priemel M, Schilling AF, Rueger JM, Cornils K, Fehse B, Streichert T, Sauter G, Jakob F, Insogna KL, Pober B, Knobeloch KP, Francke U, Amling M, Schinke T.

J Cell Biol. 2011 Mar 21;192(6):1057-72. doi: 10.1083/jcb.201008012. Epub 2011 Mar 14.

16.

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.

Stheneur C, Faivre L, Collod-Béroud G, Gautier E, Binquet C, Bonithon-Kopp C, Claustres M, Child AH, Arbustini E, Adès LC, Francke U, Mayer K, Arslan-Kirchner M, De Paepe A, Chevallier B, Bonnet D, Jondeau G, Boileau C.

Pediatr Res. 2011 Mar;69(3):265-70. doi: 10.1203/PDR.0b013e3182097219.

PMID:
21135753
17.

Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities.

Goergen CJ, Li HH, Francke U, Taylor CA.

J Vasc Res. 2011;48(2):119-29. doi: 10.1159/000316808. Epub 2010 Oct 7.

18.

Cardiovascular manifestations in men and women carrying a FBN1 mutation.

Détaint D, Faivre L, Collod-Beroud G, Child AH, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Kiotsekoglou A, De Backer J, Adès L, Francke U, De Paepe A, Boileau C, Jondeau G.

Eur Heart J. 2010 Sep;31(18):2223-9. doi: 10.1093/eurheartj/ehq258. Epub 2010 Aug 13.

19.

Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice.

Ding F, Li HH, Li J, Myers RM, Francke U.

PLoS One. 2010 Feb 24;5(2):e9402. doi: 10.1371/journal.pone.0009402.

20.

Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.

Li HH, Roy M, Kuscuoglu U, Spencer CM, Halm B, Harrison KC, Bayle JH, Splendore A, Ding F, Meltzer LA, Wright E, Paylor R, Deisseroth K, Francke U.

EMBO Mol Med. 2009 Apr;1(1):50-65. doi: 10.1002/emmm.200900003.

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