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Items: 1 to 20 of 180

1.

A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts.

Wu-Chou YH, Lo LJ, Chen KT, Chang CS, Chen YR.

BMC Med Genet. 2013 Mar 20;14:37. doi: 10.1186/1471-2350-14-37.

2.

IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.

Leslie EJ, Koboldt DC, Kang CJ, Ma L, Hecht JT, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Fulton RS, Wilson RK, Beaty TH, Schutte BC, Murray JC, Marazita ML.

Clin Genet. 2016 Jul;90(1):28-34. doi: 10.1111/cge.12675. Epub 2015 Oct 1.

3.

Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.

Pegelow M, Koillinen H, Magnusson M, Fransson I, Unneberg P, Kere J, Karsten A, Peyrard-Janvid M.

Cleft Palate Craniofac J. 2014 Jan;51(1):49-55. doi: 10.1597/11-220. Epub 2013 Feb 8.

PMID:
23394314
4.

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.

Busche A, Hehr U, Sieg P, Gillessen-Kaesbach G.

Am J Med Genet A. 2016 Sep;170(9):2404-7. doi: 10.1002/ajmg.a.37791. Epub 2016 Jun 10.

PMID:
27286731
5.

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.

Charzewska A, Obersztyn E, Hoffman-Zacharska D, Lenart J, Poznański J, Bal J.

Cleft Palate Craniofac J. 2015 Sep;52(5):e161-7. doi: 10.1597/14-030. Epub 2014 Dec 9.

PMID:
25489771
6.

Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.

Leslie EJ, Mancuso JL, Schutte BC, Cooper ME, Durda KM, L'Heureux J, Zucchero TM, Marazita ML, Murray JC.

Am J Med Genet A. 2013 Oct;161A(10):2535-2544. doi: 10.1002/ajmg.a.36133. Epub 2013 Aug 15.

7.

Novel IRF6 mutations in Honduran Van der Woude syndrome patients.

Birkeland AC, Larrabee Y, Kent DT, Flores C, Su GH, Lee JH, Haddad J Jr.

Mol Med Rep. 2011 Mar-Apr;4(2):237-41. doi: 10.3892/mmr.2011.423. Epub 2011 Jan 11.

PMID:
21468557
8.

Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan.

Malik S, Wilcox ER, Naz S.

Clin Genet. 2014 May;85(5):487-91. doi: 10.1111/cge.12207. Epub 2013 Jun 24.

PMID:
23713753
9.

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC.

Genet Med. 2013 May;15(5):338-44. doi: 10.1038/gim.2012.141. Epub 2012 Nov 15.

10.

An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.

Fakhouri WD, Rahimov F, Attanasio C, Kouwenhoven EN, Ferreira De Lima RL, Felix TM, Nitschke L, Huver D, Barrons J, Kousa YA, Leslie E, Pennacchio LA, Van Bokhoven H, Visel A, Zhou H, Murray JC, Schutte BC.

Hum Mol Genet. 2014 May 15;23(10):2711-20. doi: 10.1093/hmg/ddt664. Epub 2014 Jan 16.

11.

[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province].

Wang XF, Xiao MZ, Shi JN, Zhang HB, Hu LD, Kong XY.

Shanghai Kou Qiang Yi Xue. 2005 Jun;14(3):234-7. Chinese.

PMID:
15995766
12.

Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.

Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K.

Am J Med Genet A. 2010 Sep;152A(9):2262-7. doi: 10.1002/ajmg.a.33338.

PMID:
20803643
13.

Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome.

Hixon K, Rhea L, Standley J, Canady FJ, Canady JW, Dunnwald M.

Cleft Palate Craniofac J. 2017 May;54(3):281-286. doi: 10.1597/15-275. Epub 2016 Apr 26.

PMID:
27115562
14.

IRF6 mutations in mixed isolated familial clefting.

Rutledge KD, Barger C, Grant JH, Robin NH.

Am J Med Genet A. 2010 Dec;152A(12):3107-9. doi: 10.1002/ajmg.a.33053.

PMID:
21082654
15.

Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.

Salahshourifar I, Wan Sulaiman WA, Halim AS, Zilfalil BA.

Eur J Med Genet. 2012 Jun;55(6-7):389-93. doi: 10.1016/j.ejmg.2012.02.006. Epub 2012 Mar 3. Review.

PMID:
22440537
16.

Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes.

Pegelow M, Peyrard-Janvid M, Zucchelli M, Fransson I, Larson O, Kere J, Larsson C, Karsten A.

Eur J Orthod. 2008 Apr;30(2):169-75. doi: 10.1093/ejo/cjm097. Epub 2008 Jan 21.

PMID:
18209213
17.

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.

Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, Lentz BA, Unneberg P, Fransson I, Koillinen HK, Rautio J, Pegelow M, Karsten A, Basel-Vanagaite L, Gordon W, Andersen B, Svensson T, Murray JC, Cornell RA, Kere J, Schutte BC.

Am J Hum Genet. 2014 Jan 2;94(1):23-32. doi: 10.1016/j.ajhg.2013.11.009. Epub 2013 Dec 19.

18.

A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude syndrome.

Miñones-Suárez L, Mas-Vidal A, Fernandez-Toral J, Llano-Rivas I, González-García M.

Pediatr Dermatol. 2012 Nov-Dec;29(6):768-70. doi: 10.1111/j.1525-1470.2011.01575.x. Epub 2011 Oct 13.

PMID:
21995291
19.

Orofacial clefting: update on the role of genetics.

Ghassibe M, Bayet B, Revencu N, Desmyter L, Verellen-Dumoulin C, Gillerot Y, Deggouj N, Vanwijck R, Vikkula M; CL/P Study Group.

B-ENT. 2006;2 Suppl 4:20-4.

PMID:
17366841
20.

Association study between Van der Woude Syndrome causative gene GRHL3 and nonsyndromic cleft lip with or without cleft palate in a Chinese cohort.

Wang Y, Sun Y, Huang Y, Pan Y, Jia Z, Ma L, Ma L, Lan F, Zhou Y, Shi J, Yang X, Zhang L, Jiang H, Jiang M, Yin A, Cheng J, Wang L, Yang Y, Shi B.

Gene. 2016 Aug 15;588(1):69-73. doi: 10.1016/j.gene.2016.04.045. Epub 2016 Apr 26.

PMID:
27129939

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