Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan (Q52659034)

5 May 2018

review article

1 reference

title

Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan (English)

1 reference

5 May 2018

0 references

Akitaka Shibata

1

1 reference

5 May 2018

Masashi Akiyama

series ordinal

2

1 reference

5 May 2018

publication date

7 April 2015

1 reference

5 May 2018

published in

Pediatrics International

1 reference

5 May 2018

volume

57

1 reference

5 May 2018

issue

4

1 reference

5 May 2018

page(s)

516-522

1 reference

5 May 2018

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

cites work

1 reference

An update on molecular aspects of the non-syndromic ichthyoses

21 January 2018

1 reference

Improving outcomes for harlequin ichthyosis

21 January 2018

1 reference

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases

21 January 2018

1 reference

Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.

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

Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure

21 January 2018

1 reference

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

21 January 2018

1 reference

Harlequin ichthyosis unmasked: a defect of lipid transport

21 January 2018

1 reference

Repair of cicatricial ectropion in an infant with harlequin ichthyosis using engineered human skin

21 January 2018

1 reference

Abnormal Lamellar Granules in Harlequin Ichthyosis

21 January 2018

1 reference

Harlequin fetus with abnormal lamellar granules and giant mitochondria

21 January 2018

1 reference

Development of a disease severity score for newborns with collodion membrane

21 January 2018

1 reference

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

21 January 2018

1 reference

Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects

21 January 2018

1 reference

Care of the newborn with ichthyosis

21 January 2018

1 reference

Ichthyosis: clinical manifestations and practical treatment options.

21 January 2018

1 reference

Perinatal management of harlequin ichthyosis: a case report and literature review

21 January 2018

1 reference

Oral retinoid therapy for disorders of keratinization: single-centre retrospective 25 years' experience on 23 patients

21 January 2018

1 reference

Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.

21 January 2018

1 reference

Unusual Protrusion of Conjunctiva in Two Neonates with Harlequin Ichthyosis

21 January 2018

1 reference

Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34

21 January 2018

1 reference

Mammalian ABC transporters in health and disease

21 January 2018

1 reference

Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes

21 January 2018

1 reference

Involvement of corneodesmosome degradation and lamellar granule transportation in the desquamation process

21 January 2018

1 reference

Epidermal lamellar granules transport different cargoes as distinct aggregates

21 January 2018

1 reference

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis

21 January 2018

1 reference

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

21 January 2018

1 reference

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis

21 January 2018

1 reference

ABCA12 is the major harlequin ichthyosis gene

21 January 2018

1 reference

Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis

21 January 2018

1 reference

Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases

21 January 2018

1 reference

ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma

21 January 2018

1 reference

Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia

21 January 2018

1 reference

Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation

21 January 2018

1 reference

Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.

21 January 2018

1 reference

Three-dimensional ultrasound prenatal diagnosis of congenital ichthyosis: contribution of molecular biology

21 January 2018

1 reference

Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma.

21 January 2018

1 reference

Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma

21 January 2018

1 reference

Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/PED.12638

1 reference

5 May 2018

1 reference

5 May 2018