Intra-familial phenotype variability in patients with Jalili syndrome.
作者信息
Gerth-Kahlert C, Seebauer B, Dold S, Hanson J V M, Wildberger H, Spörri A, van Waes H, Berger W
机构信息
Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
1] Institute of Medical Molecular Genetics, Zurich, Switzerland [2] Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland.
出版信息
Eye (Lond). 2015 May;29(5):712-6. doi: 10.1038/eye.2014.314. Epub 2015 Jan 23.
Abstract
摘要
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本文引用的文献
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Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.近亲家庭中基于同源性的突变分析和外显子组测序揭示了视网膜营养不良不寻常的临床和分子学发现。
Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13.
2
Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.由于CNNM4基因中c.1312 dupC纯合突变导致的贾利利综合征的牙齿表型。
PLoS One. 2013 Oct 23;8(10):e78529. doi: 10.1371/journal.pone.0078529. eCollection 2013.
3
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.纽芬兰岛全色盲的分子遗传学研究揭示了遗传异质性、奠基者效应以及北美首例贾利利综合征病例。
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Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.基于自身同源重组的外显子组测序在视网膜营养不良患者中发现了致病性突变和新的候选疾病基因。
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Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.1型神经纤维瘤病患儿中与牙釉质发育不全相关的视锥-视杆营养不良
Ophthalmic Genet. 2012 Mar;33(1):34-8. doi: 10.3109/13816810.2011.592178. Epub 2011 Jul 5.
6
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. Cone-rod 营养不良和牙本质发育不全（Jalili 综合征）：表型和环境。
Eye (Lond). 2010 Nov;24(11):1659-68. doi: 10.1038/eye.2010.103. Epub 2010 Aug 13.
7
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.CNNM4基因的突变会导致伴有牙釉质发育不全的隐性视锥-视杆营养不良。
Am J Hum Genet. 2009 Feb;84(2):259-65. doi: 10.1016/j.ajhg.2009.01.006. Epub 2009 Feb 5.
8
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.CNNM4基因的突变会导致贾利利综合征，该综合征由常染色体隐性遗传的视锥视杆营养不良和牙釉质发育不全组成。
Am J Hum Genet. 2009 Feb;84(2):266-73. doi: 10.1016/j.ajhg.2009.01.009. Epub 2009 Feb 5.
9
An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta.一种与牙釉质发育不全相关的常染色体隐性遗传性视锥-视杆营养不良。
J Med Genet. 2004 Jun;41(6):468-73. doi: 10.1136/jmg.2003.015792.
10
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.一种进行性锥杆营养不良合并牙釉质发育不全：一种新综合征。
J Med Genet. 1988 Nov;25(11):738-40. doi: 10.1136/jmg.25.11.738.
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