鱼鳞病的遗传学：流行病学家入门指南。 - Suppr

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超能文献

The genetics of ichthyosis: a primer for epidemiologists.

作者信息

Bale S J, Doyle S Z

机构信息

Genetic Studies Section, NIAMS, National Institutes of Health, Bethesda, Maryland 20892.

出版信息

J Invest Dermatol. 1994 Jun;102(6):49S-50S. doi: 10.1111/1523-1747.ep12388591.

DOI:10.1111/1523-1747.ep12388591

PMID:8006437

Abstract

摘要

相似文献

The genetics of ichthyosis: a primer for epidemiologists.鱼鳞病的遗传学：流行病学家入门指南。

J Invest Dermatol. 1994 Jun;102(6):49S-50S. doi: 10.1111/1523-1747.ep12388591.

[The genetics and molecular genetics of X-chromosomal recessive ichthyosis].

Dermatol Monatsschr. 1989;175(4):197-202.

Ichthyosis vulgaris showing features of the autosomal dominant and X-linked recessive variants in the same family.寻常型鱼鳞病在同一家族中呈现常染色体显性和X连锁隐性变异的特征。

Clin Genet. 1978 Jun;13(6):462-70. doi: 10.1111/j.1399-0004.1978.tb01199.x.

[Clinical picture of X chromosome recessive ichthyosis].

Dermatol Monatsschr. 1985;171(1):25-37.

Ocular findings and skin histology in a group of patients with X-linked ichthyosis.

Br J Dermatol. 1988 Aug;119(2):185-8. doi: 10.1111/j.1365-2133.1988.tb03200.x.

Steroid sulphatase deficiency in patients initially diagnosed as ichthyosis vulgaris or recessive X-linked ichthyosis.最初被诊断为寻常型鱼鳞病或X连锁隐性鱼鳞病患者的类固醇硫酸酯酶缺乏症。

Br J Dermatol. 1985 Apr;112(4):431-3. doi: 10.1111/j.1365-2133.1985.tb02316.x.

X-linked ichthyosis.X连锁鱼鳞病

Int J Dermatol. 1981 Jan-Feb;20(1):26-31. doi: 10.1111/j.1365-4362.1981.tb05280.x.

X-linked recessive ichthyosis. Reinvestigation of a family first described in 1928.X连锁隐性鱼鳞病。对一个于1928年首次描述的家族进行重新研究。

Dermatologica. 1987;175(5):217-23.

Biochemical abnormalities in the ichthyoses.鱼鳞病的生化异常。

Curr Probl Dermatol. 1987;17:32-44. doi: 10.1159/000413472.

X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein.X连锁鱼鳞病：血液中硫酸胆固醇增加及低密度脂蛋白电泳迁移率升高。

Science. 1981 Nov 6;214(4521):659-60. doi: 10.1126/science.6945674.

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Identification of a novel partial deletion of associated with pre-Descemet corneal dystrophy and X-linked ichthyosis.鉴定一种新型与前弹力层角膜营养不良和 X 连锁鱼鳞癣相关的部分缺失。

Mol Vis. 2023 Apr 29;29:25-30. eCollection 2023.

In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report.与X连锁鱼鳞病相关的前弹力层下角膜营养不良的体内共聚焦显微镜检查：病例报告

BMC Ophthalmol. 2017 Mar 16;17(1):29. doi: 10.1186/s12886-017-0423-5.

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.在一名患有非大疱性先天性鱼鳞病样红皮病并伴有叠加性大疱性马约基肉芽肿的患者中鉴定出纯合子ALOXE3无义变异：皮肤屏障功能障碍的后果

Int J Mol Sci. 2015 Sep 9;16(9):21791-801. doi: 10.3390/ijms160921791.

Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene.先天性角膜营养不良和 X 连锁鱼鳞癣与 Xp22.31 缺失有关，该缺失区域包含 STS 基因。

Cornea. 2013 Sep;32(9):1283-7. doi: 10.1097/ICO.0b013e318298e176.

Multiple local and recent founder effects of TGM1 in Spanish families.西班牙家族中 TGM1 的多个局部和近期起源效应。

PLoS One. 2012;7(4):e33580. doi: 10.1371/journal.pone.0033580. Epub 2012 Apr 12.

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.常染色体隐性遗传性先天性鱼鳞病中的转谷氨酰胺酶-1基因突变：突变总结（包括23个新突变）及转谷氨酰胺酶-1建模

Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952.

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.美国104例常染色体隐性遗传性先天性鱼鳞病患者的新型转谷氨酰胺酶-1突变及基因型-表型研究

J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905. Epub 2008 Oct 23.

Microbial keratitis in a case of lamellar ichthyosis.板层状鱼鳞病患者的微生物性角膜炎

Int Ophthalmol. 2008 Oct;28(5):367-8. doi: 10.1007/s10792-007-9139-5. Epub 2007 Sep 9.

In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa.交界性大疱性表皮松解症中层粘连蛋白5β3表达及功能的体内恢复

Proc Natl Acad Sci U S A. 2001 Apr 24;98(9):5193-8. doi: 10.1073/pnas.091484998. Epub 2001 Apr 10.

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