(Q51038496)

27 March 2018

title

Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. (English)

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27 March 2018

autosomal recessive congenital ichthyosis

main subject

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Israel

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author name string

S Israeli

1

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I Goldberg

2

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D Fuchs-Telem

3

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R Bergman

4

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M Indelman

5

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O Bitterman-Deutsch

6

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A Harel

7

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Y Mashiach

8

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O Sarig

9

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E Sprecher

10

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27 March 2018

publication date

26 April 2013

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27 March 2018

Clinical and Experimental Dermatology

published in

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27 March 2018

volume

38

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issue

8

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27 March 2018

page(s)

911-916

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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

cites work

1 reference

Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain

21 January 2018

1 reference

Annual direct and indirect health costs of the congenital ichthyoses.

21 January 2018

1 reference

The cornified envelope: a model of cell death in the skin

21 January 2018

1 reference

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

21 January 2018

1 reference

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

21 January 2018

1 reference

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

21 January 2018

1 reference

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

21 January 2018

1 reference

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

21 January 2018

1 reference

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

21 January 2018

1 reference

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

A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis

21 January 2018

1 reference

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

21 January 2018

1 reference

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population

21 January 2018

1 reference

Rapid detection of homozygous mutations in congenital recessive ichthyosis

21 January 2018

1 reference

Epidermolysis bullosa care in Israel

21 January 2018

1 reference

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

21 January 2018

1 reference

Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.

21 January 2018

1 reference

Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CED.12148

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27 March 2018

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27 March 2018