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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.


The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.

Choi SJ, Marazita ML, Hart PS, Sulima PP, Field LL, McHenry TG, Govil M, Cooper ME, Letra A, Menezes R, Narayanan S, Mansilla MA, Granjeiro JM, Vieira AR, Lidral AC, Murray JC, Hart TC.

Eur J Hum Genet. 2009 Jun;17(6):774-84. doi: 10.1038/ejhg.2008.245. Epub 2008 Dec 17.


Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.

Boyles AL, Wilcox AJ, Taylor JA, Shi M, Weinberg CR, Meyer K, Fredriksen A, Ueland PM, Johansen AM, Drevon CA, Jugessur A, Trung TN, Gjessing HK, Vollset SE, Murray JC, Christensen K, Lie RT.

Genet Epidemiol. 2009 Apr;33(3):247-55. doi: 10.1002/gepi.20376.


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.


First-trimester maternal alcohol consumption and the risk of infant oral clefts in Norway: a population-based case-control study.

DeRoo LA, Wilcox AJ, Drevon CA, Lie RT.

Am J Epidemiol. 2008 Sep 15;168(6):638-46. doi: 10.1093/aje/kwn186. Epub 2008 Jul 30.


Analysis of Zfhx1a mutant mice reveals palatal shelf contact-independent medial edge epithelial differentiation during palate fusion.

Jin JZ, Li Q, Higashi Y, Darling DS, Ding J.

Cell Tissue Res. 2008 Jul;333(1):29-38. doi: 10.1007/s00441-008-0612-x. Epub 2008 May 10.


Genome-wide association studies for complex traits: consensus, uncertainty and challenges.

McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN.

Nat Rev Genet. 2008 May;9(5):356-69. doi: 10.1038/nrg2344. Review.


Methods for handling multiple testing.

Rice TK, Schork NJ, Rao DC.

Adv Genet. 2008;60:293-308. doi: 10.1016/S0065-2660(07)00412-9. Review.


Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.

Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC.

Am J Hum Genet. 2008 Mar;82(3):712-22. doi: 10.1016/j.ajhg.2008.01.011. Erratum in: Am J Hum Genet. 2008 Sep;83(3):425-7.


Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway.

Jugessur A, Rahimov F, Lie RT, Wilcox AJ, Gjessing HK, Nilsen RM, Nguyen TT, Murray JC.

Genet Epidemiol. 2008 Jul;32(5):413-24. doi: 10.1002/gepi.20314.


Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives.

Sivertsen A, Wilcox AJ, Skjaerven R, Vindenes HA, Abyholm F, Harville E, Lie RT.

BMJ. 2008 Feb 23;336(7641):432-4. doi: 10.1136/bmj.39458.563611.AE. Epub 2008 Feb 4.


FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate.

Pauws E, Stanier P.

Trends Genet. 2007 Dec;23(12):631-40. Epub 2007 Nov 5. Review.


Mowat-Wilson syndrome.

Garavelli L, Mainardi PC.

Orphanet J Rare Dis. 2007 Oct 24;2:42. Review.


A dosage-dependent role for Spry2 in growth and patterning during palate development.

Welsh IC, Hagge-Greenberg A, O'Brien TP.

Mech Dev. 2007 Sep-Oct;124(9-10):746-61. Epub 2007 Jul 10.


Comprehensive analysis of animal TALE homeobox genes: new conserved motifs and cases of accelerated evolution.

Mukherjee K, Bürglin TR.

J Mol Evol. 2007 Aug;65(2):137-53. Epub 2007 Jul 30.


CRISPLD2: a novel NSCLP candidate gene.

Chiquet BT, Lidral AC, Stal S, Mulliken JB, Moreno LM, Arcos-Burgos M, Valencia-Ramirez C, Blanton SH, Hecht JT.

Hum Mol Genet. 2007 Sep 15;16(18):2241-8. Epub 2007 Jul 5. Erratum in: Hum Mol Genet. 2008 Apr 1;17(7):1061. Arco-Burgos, Mauricio [corrected to Arcos-Burgos, Mauricio].


Identification of risk-related haplotypes with the use of multiple SNPs from nuclear families.

Shi M, Umbach DM, Weinberg CR.

Am J Hum Genet. 2007 Jul;81(1):53-66. Epub 2007 May 15.


Impaired FGF signaling contributes to cleft lip and palate.

Riley BM, Mansilla MA, Ma J, Daack-Hirsch S, Maher BS, Raffensperger LM, Russo ET, Vieira AR, Dodé C, Mohammadi M, Marazita ML, Murray JC.

Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4512-7. Epub 2007 Mar 6.

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