鱼鳞病

单细胞单轮二重PCR诊断X-连锁鱼鳞病

Diagnosing X-linked Ichthyosis by Monoplast Single-round Duplex PCR

X性联锁遗传鱼鳞病一家系的STS基因研究

Investigation of STS Gene in a Pedigree with X-Linked Ichthyosis

分子遗传学检测使Siemens大疱性鱼鳞病易于正确诊断

Ichthyosis bullosa of Siemens : Its correct diagnosis facilitated by molecular genetic testing

Siemens大疱性鱼鳞病基因突变国内首次报道

First report of gene mutation in a Chinese patient with ichthyosis bullosa of Siemens

方法：报告国内首例经临床确诊的先天性鱼鳞病、感音神经性耳聋、血管化角膜炎的临床、MR表现，并复习文献。

Methods : To report clinical manifestation and MR findings of the first case of keratitis , ichthyosiform , deafness ( KID ) syndrome , and review the literature .

Lambert型豪猪状鱼鳞病的光镜及电镜分析

Pathological observation of ichthyosis hystrix Lambert type with light and electron microscopes

我们研究了播散性浅表光化性汗孔角化症（DSAP）和寻常型鱼鳞病（IV）。

We studied disseminated superficial actinic porokeratosis ( DSAP ) and ichthyosis vulgaris ( IV ) .

方法：观察一Lambert型豪猪状鱼鳞病家系，并对皮损组织做光镜和电镜观察。

Methods : A family of IH Lambert type was observed and pathological features of the skin lesion examined under light and electron microscopes .

1例日本患先天性鱼鳞病样红皮病新生儿被诊断为Netherton综合征

A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome

聚合酶链反应-DNA测序检测大疱性先天性鱼鳞病样红皮病家系角蛋白K10基因点突变

Detection of Keratin 10 Gene Point Mutation in a Family with Bullous Congenital Ichthyosiform Erythroderma by PCR and DNA Sequencing

板层状鱼鳞病TGM1基因突变研究

Transglutaminase 1 gene mutations in a family with lamellar ichthyosis

目的检测国内首例先天性角膜炎、鱼鳞病、耳聋综合征（KID）患者的GJB2基因和GJB6基因突变。

Objective To detect the mutations of GJB2 and GJB6 genes in the first Chinese case of keratitis , ichthyosis and deafness ( KID ) syndrome .

伴鱼鳞病的中性脂质贮存异常的发病机制和屏障功能障碍（Chanarin-Dorfman综合征）

Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis ( Chanarin-Dorfman syndrome )

目的探讨一个板层状鱼鳞病家系转谷氨酰胺酶1基因（TGM1）的突变。

Objective To detect the mutations of transglutaminase 1 ( TGM1 ) gene in a family with lamellar ichthyosis .

结果：97例患者随机分为试验组、对照组和开放组，28d治疗后，试验组鱼鳞病和手足皲裂的有效率均为100%、对照组则分别为91.7%和27.3%。

Results : 97 cases were randomly divided into three groups . After 28 days treatment , respectively the efficacy rates were 100 % , 100 % for ichthyosis vulgaris and rhagadia manus and pedalis in test group , vs.

银屑病和鱼鳞病患者血清必需脂肪酸分析

Serum essential fatty acid analyses in patients with psoriasis and ichthyosis

寻常型鱼鳞病的发病通常在出生后一年之内就已开始。

The onset of IV is usually within one year after birth .

表皮松解性角化过度型鱼鳞病二例及其基因突变的研究

Gene Mutations in Two Sporadic Cases of Epidermolytic Hyperkeratosis Ichthyosis

角膜炎·鱼鳞病·耳聋综合征&国内首例报告

Keratitis ichthyosis and deafness syndrome : first report in China

目的探讨重症鱼鳞病患儿的临床护理经验。

Objective To study the nursing experience of children with severe ichthyosis .

方法报告1例角膜炎、鱼鳞病、耳聋综合征患者的眼部表现。

We report the feature of eyes in patient with KID syndrome .

目的研究二例表皮松解性角化过度型鱼鳞病患者基因突变情况。

Objective To identify gene mutations of two cases of epidermolytic hyperkeratosis ichthyosis .

伴房间隔缺损的X-连锁鱼鳞病1例

A case of X-linked ichthyosis with interatrial septal defect

四种遗传性鱼鳞病基因型与临床表型的相关性分析

Analysis on the Genotype and Clinical Phenotype Correlations of Four Style Heritage Ichthyosis

重症鱼鳞病患儿的护理23例

Nursing for 23 children with severe ichthyosis

表皮松解性角化过度鱼鳞病伴侏儒1例

Q & A on Sex Epidermolytic hyperkeratosis ichthyosis complicated by dwarf : a case report

产前排除丑角样鱼鳞病：择时胎儿皮肤活检的潜在缺陷

Prenatal exclusion of harlequin ichthyosis ; potential pitfalls in the timing of the fetal skin biopsy

复方乳酸软膏治疗寻常型鱼鳞病随机双盲基质对照多中心临床研究

Double blind randomized controlled clinical trial of lactic acid compound ointment in the treatment of ichthyosis vulgaris

板层状鱼鳞病患者外周血白细胞生长、分化相关基因的表达

Fishskin disease Expressions of genes associated with growth and differentiation in peripheral blood leukocytes of lamellar ichthyosis patients

目的研究一常染色体显性遗传寻常型鱼鳞病家系的致病基因。

Objective To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris ( IV ) .