Works matching DE "CONGENITAL ichthyosiform erythroderma"
Results: 105
A Rare Case Report of a Collodion Baby with Severe Hypernatremia.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Severe congenital non-syndromic ichthyosis: ultrasound diagnosis of a prenatal case.
- Published in:
- Case Reports in Perinatal Medicine, 2019, v. 8, n. 2, p. N.PAG, doi. 10.1515/crpm-2018-0048
- By:
- Publication type:
- Article
Ichthyosis with Confetti Inherited from a Mosaic Father.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
MEND Syndrome: A Case Report with Scanning Electron Microscopy Findings of the Collodion Membrane.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Unilateral Erythematous Lesions with Wax-like Scaling and Limb Abnormalities: A Comment.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 7, p. 1005, doi. 10.2340/00015555-2355
- Publication type:
- Article
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 4, p. 473, doi. 10.2340/00015555-2299
- By:
- Publication type:
- Article
CONTINUING EDUCATION HOME STUDY COURSE.
- Published in:
- Neonatal Network, 2016, v. 35, n. 1, p. 52, doi. 10.1891/0730-0832.35.1.52
- Publication type:
- Article
Management of Epidermolytic Ichthyosis in the Newborn.
- Published in:
- Neonatal Network, 2016, v. 35, n. 1, p. 19, doi. 10.1891/0730-0832.35.1.19
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- Publication type:
- Article
Elastase 2 is expressed in human and mouse epidermis and impairs skin barrier function in Netherton syndrome through filaggrin and lipid misprocessing.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Harlequin ichthyosis unmasked: a defect of lipid transport.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.
- Published in:
- British Journal of Dermatology, 2017, v. 177, n. 5, p. e191, doi. 10.1111/bjd.15535
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- Publication type:
- Article
Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis.
- Published in:
- British Journal of Dermatology, 2017, v. 177, n. 2, p. 342, doi. 10.1111/bjd.15689
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- Publication type:
- Article
Ichthyoses: new insights unravel defects in skin barrier function resulting in diverse clinical and morphological phenotypes.
- Published in:
- British Journal of Dermatology, 2017, v. 176, n. 4, p. 863, doi. 10.1111/bjd.15211
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- Publication type:
- Article
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.
- Published in:
- British Journal of Dermatology, 2017, v. 176, n. 4, p. 1068, doi. 10.1111/bjd.14860
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- Publication type:
- Article
Ichthyoses: Case series.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
- Published in:
- International Journal of Dermatology, 2017, v. 56, n. 5, p. 514, doi. 10.1111/ijd.13568
- By:
- Publication type:
- Article
Is it safe to use N-acetylcysteine in the treatment of bilateral ectropion on collodion baby?
- Published in:
- International Journal of Dermatology, 2017, v. 56, n. 4, p. e71, doi. 10.1111/ijd.13456
- By:
- Publication type:
- Article
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.
- Published in:
- International Journal of Dermatology, 2016, v. 55, n. 6, p. 673, doi. 10.1111/ijd.13279
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- Publication type:
- Article
Epidermolytic Hyperkeratosis: A Challenging Pathology for Clinical Correlation.
- Published in:
- Balkan Medical Journal, 2019, v. 36, n. 5, p. 294, doi. 10.4274/balkanmedj.galenos.2019.2019.1.127
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- Publication type:
- Article
Ocular surface squamous neoplasia seen in congenital ichthyosis.
- Published in:
- Ocular Surgery News, 2018, v. 36, n. 9, p. 29
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- Publication type:
- Article
Ductal cyst of lacrimal gland in patient with congenital ichthyosiform erythroderma.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
- Published in:
- 2017
- By:
- Publication type:
- journal article
گزارش يك مورد ايكتيوز دلقكي با يك نتيجه مطلوب: درمان اوليه و بهبودي قابل ملاحظه
- Published in:
- Hayat / Ḥayāt, 2019, v. 24, n. 4, p. 335
- By:
- Publication type:
- Article
Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-0817-5
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- Publication type:
- Article
Pseudoainhum and autoamputation associated with lamellar ichthyosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Superficial epidermolytic ichthyosis.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Effect of tazarotene on ichthyosiform erythroderma of Tay's syndrome.
- Published in:
- 2007
- By:
- Publication type:
- Case Study
Unilateral nevoid hyperkeratosis of the nipple: a report of two cases.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Netherton Syndrome: A Case Report With Literature Review.
- Published in:
- Journal of Pediatrics Review, 2019, v. 7, n. 4, p. 223, doi. 10.32598/jpr.7.4.223
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- Publication type:
- Article
Case of the month: a 10-year-old boy with Down syndrome and ichthyosiform changes.
- Published in:
- 1997
- By:
- Publication type:
- journal article
From Phenotype to Genotype: A Collodion Baby Case Linked to CERS3 Mutation.
- Published in:
- Journal of Neonatology, 2025, v. 39, n. 2, p. 196, doi. 10.1177/09732179241280843
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- Publication type:
- Article
Deletion in Exon-20 of ABCA12 Gene Causing Harlequin Ichthyosis.
- Published in:
- Journal of Neonatology, 2023, v. 37, n. 1, p. 83, doi. 10.1177/09732179211072206
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- Publication type:
- Article
What is your diagnosis?
- Published in:
- Journal of the Turkish-German Gynecological Association, 2018, v. 19, n. 1, p. 53, doi. 10.4274/jtgga.2017.0117
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- Publication type:
- Article
A case of self-improving collodion ichthyosis associated with a rare variant of the ALOX12B gene.
- Published in:
- Dermatology Online Journal, 2023, v. 29, n. 1, p. 1, doi. 10.5070/d329160214
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- Publication type:
- Article
Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease.
- Published in:
- 2008
- By:
- Publication type:
- journal article
A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170708
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- Publication type:
- Article
Congenital Ichthyosis in 14 Great Dane Puppies With a New Presentation.
- Published in:
- Veterinary Pathology, 2016, v. 53, n. 3, p. 614, doi. 10.1177/0300985815595516
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- Publication type:
- Article
Netherton syndrome; neuropsychological and psychosocial functioning of child and adult patients and their parents.
- Published in:
- Journal of Health Psychology, 2020, v. 25, n. 13/14, p. 2296, doi. 10.1177/1359105318790052
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- Publication type:
- Article
Desmoglein-1 Deficiency Mimicking Omenn Syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Clinico-Epidemiologic Profile of Non-Syndromic Congenital Ichthyosis -- A Retrospective Chart Review of 107 Patients.
- Published in:
- Indian Journal of Dermatology, 2024, v. 69, n. 2, p. 113, doi. 10.4103/ijd.ijd_412_23
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- Publication type:
- Article
Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI.
- Published in:
- Indian Journal of Radiology & Imaging, 2019, v. 29, n. 4, p. 448, doi. 10.4103/ijri.IJRI_105_19
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- Publication type:
- Article
Plastic baby with rubber doll-like skin.
- Published in:
- Indian Journal of Health & Wellbeing, 2016, v. 7, n. 2, p. 263
- By:
- Publication type:
- Article
The prevalence, risk of premature births, mortality and causes of death of cleft lip with or without palate in South Korea: a nationwide population-based cohort study.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP‐glucose ceramide glucosyltransferase deficiency.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Genetics Corner: Trichothiodystrophy 1 Causes Neutropenia in an Infant with Congenital ichthyosis and Brittle Hair.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Combined medical and surgical management for cicatricial ectropion in lamellar ichthyosis: A report of three cases.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Spontaneous subconjunctival abscess in congenital lamellar ichthyosis.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
3D model of harlequin ichthyosis reveals inflammatory therapeutic targets.
- Published in:
- 2020
- By:
- Publication type:
- journal article