The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis (Q35142674)

6 August 2017

title

The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis (English)

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congenital ichthyosiform erythroderma

6 August 2017

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Akiyama M

1

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6 August 2017

Sawamura D

series ordinal

2

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6 August 2017

Shimizu H

series ordinal

3

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6 August 2017

publication date

1 May 2003

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Clinical and Experimental Dermatology

6 August 2017

published in

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6 August 2017

volume

28

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6 August 2017

issue

3

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6 August 2017

page(s)

235-240

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Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma

6 August 2017

cites work

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https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01295.X

The pathogenesis of severe congenital ichthyosis of the neonate

21 January 2018

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Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.

21 January 2018

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Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01295.X

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01295.X

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01295.X

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01295.X

Abnormal transglutaminase 1 expression pattern in a subset of patients with erythrodermic autosomal recessive ichthyosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01295.X

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis

21 January 2018

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A novel in situ method for the detection of deficient transglutaminase activity in the skin

21 January 2018

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Severe congenital ichthyosis of the neonate

21 January 2018

1 reference

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Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma

21 January 2018

1 reference

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Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis

21 January 2018

1 reference

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In vitro and rapid in situ transglutaminase assays for congenital ichthyoses--a comparative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2003.01295.X

Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene

21 January 2018

1 reference

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Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies

21 January 2018

1 reference

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10.1046/J.1365-2230.2003.01295.X

21 January 2018

Identifiers

DOI

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6 August 2017

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