Monozygotic twins with variable expression of Van der Woude syndrome.
作者信息
Jobling Rebekah, Ferrier Raechel A, McLeod Ross, Petrin Aline Lourenco, Murray Jeffrey C, Thomas Mary Ann
机构信息
Faculty of Medicine, University of Calgary, Calgary, Canada.
出版信息
Am J Med Genet A. 2011 Aug;155A(8):2008-10. doi: 10.1002/ajmg.a.34022. Epub 2011 Jul 7.
Abstract
摘要
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本文引用的文献
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The role of 9qh+ in phenotypic and genotypic heterogeneity in a Van der Woude syndrome pedigree.9qh+在范德伍德综合征家系表型和基因型异质性中的作用。
J Indian Soc Pedod Prev Dent. 2010 Apr-Jun;28(2):104-9. doi: 10.4103/0970-4388.66749.
2
Van der Woude syndrome in twins.双胞胎中的范德伍德综合征
J Craniofac Surg. 2005 Sep;16(5):936-9. doi: 10.1097/01.scs.0000168777.01851.cd.
3
Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traits.唇腭裂不一致的单卵双胞胎：复杂性状基因识别模型
Twin Res Hum Genet. 2005 Feb;8(1):39-46. doi: 10.1375/1832427053435373.
4
Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.范德伍德综合征综述：主要体征、流行病学、相关特征、鉴别诊断、表现度、遗传咨询及治疗
Eur J Orthod. 2004 Feb;26(1):17-24. doi: 10.1093/ejo/26.1.17.
5
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.IRF6基因的突变会导致范德伍德综合征和腘窝翼状胬肉综合征。
Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 Sep 3.
6
Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome.芬兰范德伍德综合征家族中的遗传异质性及17p11.2 - p11.1修饰位点的排除
J Med Genet. 2001 Mar;38(3):198-202. doi: 10.1136/jmg.38.3.198.
7
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1.对一个患有范德伍德综合征的大型巴西家族进行的连锁分析表明，在17p11.2 - 11.1处存在腭裂易感基因座。
Am J Hum Genet. 1999 Aug;65(2):433-40. doi: 10.1086/302491.
8
Van der Woude syndrome. A case report.范德伍德综合征。病例报告。
Pediatr Dermatol. 1998 Nov-Dec;15(6):459-63. doi: 10.1046/j.1525-1470.1998.1998015459.x.
9
Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41.范德伍德基因定位的优化以及构建跨越1q32 - q41关键区域的3.5兆碱基酵母人工染色体重叠群和序列标签位点图谱。
Genomics. 1996 Sep 15;36(3):507-14. doi: 10.1006/geno.1996.0496.
10
The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations.下唇凹陷与唇裂和/或腭裂综合征。遗传学考量。
Am J Hum Genet. 1967 May;19(3 Pt 2):416-32.
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