Heterogeneity of the autosomal dominant split hand/split foot malformation.
作者信息
Zlotogora J
出版信息
Am J Hum Genet. 1995 Jan;56(1):341-3.
Abstract
摘要
相似文献
1
Heterogeneity of the autosomal dominant split hand/split foot malformation.常染色体显性分裂手/分裂足畸形的异质性。
Am J Hum Genet. 1995 Jan;56(1):341-3.
2
On the inheritance of the split hand/split foot malformation.关于裂手/裂足畸形的遗传
Am J Med Genet. 1994 Oct 15;53(1):29-32. doi: 10.1002/ajmg.1320530107.
3
4
The expanding panorama of split hand foot malformation.裂手裂足畸形的扩展全貌
Am J Med Genet A. 2006 Jul 1;140(13):1359-65. doi: 10.1002/ajmg.a.31304.
5
Split hand foot malformation (SHFM).手足裂畸形
Clin Genet. 2005 Dec;68(6):501-5. doi: 10.1111/j.1399-0004.2005.00530.x.
6
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.一个家族中出现的裂手/裂足畸形，该家族存在一条平衡易位染色体，其断点位于7q22.1。
Am J Med Genet. 1993 Nov 1;47(6):823-31. doi: 10.1002/ajmg.1320470606.
7
Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.一名患有7q21.3新发间质性缺失的男孩出现双侧裂手裂足畸形。
J Med Genet. 1991 Jul;28(7):479-81. doi: 10.1136/jmg.28.7.479.
8
Bilateral split hand/foot malformation and inv(7)(p22q21.3).双侧裂手/裂足畸形与inv(7)(p22q21.3)。
J Med Genet. 1995 May;32(5):375-8. doi: 10.1136/jmg.32.5.375.
9
[Split hand/foot abnormalities: classification, pathogenesis, epidemiology].[手足分裂畸形：分类、发病机制、流行病学]
Orv Hetil. 1991 Jul 28;132(30):1639-42.
10
Is there an autosomal recessive form of the split hand and split foot malformation?是否存在常染色体隐性遗传型的裂手裂足畸形？
J Med Genet. 1989 Feb;26(2):138-40. doi: 10.1136/jmg.26.2.138.
引用本文的文献
1
Historical note: an analysis of a 17th century illustration of a child with split hand/split foot malformation.历史记录：对一幅17世纪患有裂手/裂足畸形儿童的插图的分析。
J Child Orthop. 2010 Apr;4(2):105-6. doi: 10.1007/s11832-009-0235-0. Epub 2010 Jan 12.
2
Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.对一个庞大阿拉伯家族中伴有长骨缺陷的手足裂畸形进行全基因组连锁扫描，在染色体1q42.2 - q43和6q14.1上鉴定出两个新的易感基因座。
Am J Hum Genet. 2007 Jan;80(1):105-11. doi: 10.1086/510724. Epub 2006 Nov 29.
本文引用的文献
1
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.一个家族中出现的裂手/裂足畸形，该家族存在一条平衡易位染色体，其断点位于7q22.1。
Am J Med Genet. 1993 Nov 1;47(6):823-31. doi: 10.1002/ajmg.1320470606.
2
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.7号染色体q21.3 - q22.1区域常染色体显性遗传的裂手/裂足基因座的精细定位。
Am J Hum Genet. 1994 Jul;55(1):12-20.
3
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.人类常染色体显性分裂手/分裂足畸形中基因座异质性的证据。
Am J Hum Genet. 1994 Jul;55(1):21-6.
4
The genetics of human limb development.人类肢体发育的遗传学
Am J Hum Genet. 1994 Jul;55(1):1-6.
5
On the inheritance of the split hand/split foot malformation.关于裂手/裂足畸形的遗传
Am J Med Genet. 1994 Oct 15;53(1):29-32. doi: 10.1002/ajmg.1320530107.
6
Anomalous inheritance in a kindred with split hand, split foot malformation.一例患有并指（趾）畸形家族中的异常遗传。
Eur J Pediatr. 1988 Feb;147(2):202-5. doi: 10.1007/BF00442225.
Zotero 插件