Works matching DE "ICHTHYOSIS"
Results: 1663
Chanarin-Dorfman syndrome: Clinical report and novel mutation in ABHD5 gene.
- Published in:
- Journal of Postgraduate Medicine, 2014, v. 60, n. 3, p. 332, doi. 10.4103/0022-3859.138826
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- Publication type:
- Article
Harlequin Ichthyosis: A Case Report.
- Published in:
- 2013
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- Publication type:
- Case Study
Genetic analysis and clinical features of three Chinese patients with Oguchi disease.
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- Documenta Ophthalmologica, 2023, v. 146, n. 1, p. 17, doi. 10.1007/s10633-022-09910-x
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- Publication type:
- Article
Cetrimide-induced oral mucositis: an unusual adverse drug reaction.
- Published in:
- 2016
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- Publication type:
- Letter
Prenatal sonographic features of Harlequin ichthyosis.
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- Archives of Gynecology & Obstetrics, 2003, v. 268, n. 1, p. 48, doi. 10.1007/s00404-002-0333-4
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- Publication type:
- Article
Infantile seborrheic dermatitis differential diagnosis based on case report.
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- Forum Dermatologicum, 2023, v. 9, n. 3, p. 123, doi. 10.5603/FD.a2023.0010
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- Publication type:
- Article
Surgical Site Infection After Cesarean Section in a Patient with Ichthyosis Vulgaris.
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- Türkiye Klinikleri Journal of Case Reports, 2024, v. 32, n. 2, p. 40, doi. 10.5336/caserep.2023-100227
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- Publication type:
- Article
Toxic Effect of the Harmful Dinoflagellate Cochiodinium polykrikoides on the Spotted Rose Snapper Lutjanus guttatus.
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- Environmental Toxicology, 2010, v. 25, n. 4, p. 319, doi. 10.1002/tox.20507
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- Publication type:
- Article
Two siblings with Netherton syndrome.
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- Turkish Journal of Medical Sciences, 2010, v. 40, n. 5, p. 819, doi. 10.3906/sag-0904-12
- Publication type:
- Article
12R-lipoxygenase deficiency disrupts epidermal barrier function.
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- Journal of Cell Biology, 2007, v. 177, n. 1, p. 173, doi. 10.1083/jcb.200612116
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- Publication type:
- Article
A novel keratin 10 gene mutation causing epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) in a term neonate.
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- Case Reports in Perinatal Medicine, 2017, v. 6, n. 1, p. 1, doi. 10.1515/crpm-2016-0050
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- Publication type:
- Article
Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1186575
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- Publication type:
- Article
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.917601
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- Publication type:
- Article
Cicatricial ectropion in progressive skin diseases.
- Published in:
- Orbit, 2001, v. 20, n. 2, p. 91, doi. 10.1076/orbi.20.2.91.2634
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- Publication type:
- Article
Surgical treatment of cicatricial ectropion in lamellar ichthyosis.
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- Orbit, 2000, v. 19, n. 1, p. 37, doi. 10.1076/0167-6830(200003)19:1;1-Z;FT037
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- Publication type:
- Article
Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.
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- Ophthalmic Genetics, 2004, v. 25, n. 2, p. 153, doi. 10.1080/13816810490514405
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- Publication type:
- Article
An unusual central retinal dystrophy associated with ichthyosisvulgaris.
- Published in:
- 2000
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- Publication type:
- Case Study
A syndrome of retinitis pigmentosa, congenital ichthyosis, hypergonadotropichypogonadism, small stature, mental retardation, cranial dysmorphism, andabnormal electroencephalogram.
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- Ophthalmic Genetics, 1998, v. 19, n. 2, p. 69, doi. 10.1076/opge.19.2.69.2318
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- Publication type:
- Article
A rare cause of nephrotic syndrome—sphingosine-1-phosphate lyase (SGPL1) deficiency: 6 cases and a review of the literature.
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- Pediatric Nephrology, 2023, v. 38, n. 3, p. 711, doi. 10.1007/s00467-022-05656-5
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- Publication type:
- Article
End-stage renal failure in a child with X-linked ichthyosis.
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- Pediatric Nephrology, 2003, v. 18, n. 3, p. 297, doi. 10.1007/s00467-002-1042-8
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- Publication type:
- Article
Comparative analysis of the 2016 ACR‐EULAR and the 2002 AECG classification criteria for Sjögren's syndrome: Findings from the NIH cohort.
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- Oral Diseases, 2018, v. 24, n. 1/2, p. 184, doi. 10.1111/odi.12772
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- Publication type:
- Article
Review of linear epidermal nevus with oral mucosal involvement – series of five new cases.
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- Oral Diseases, 2008, v. 14, n. 2, p. 131, doi. 10.1111/j.1601-0825.2006.01355.x
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- Publication type:
- Article
Acquired ichthyosis and secondary hyperparathyroidism with systemic lupus erythematosus*.
- Published in:
- 2015
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- Publication type:
- Letter to the Editor
Congenital Hypothyroidism in Two Sudanese Families Harboring a Novel Iodotyrosine Deiodinase Mutation (IYD R279C).
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- Thyroid, 2023, v. 33, n. 2, p. 261, doi. 10.1089/thy.2022.0492
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- Publication type:
- Article
Severe Bilateral Ectropion in Lamellar Ichthyosis: A Case Report.
- Published in:
- 2022
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- Publication type:
- Case Study
Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review.
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- American Journal of Case Reports, 2022, v. 23, p. 1, doi. 10.12659/AJCR.935393
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- Publication type:
- Article
The successful treatment of Lamellar Ichthyosis—a plastic surgeons perspective.
- Published in:
- 2023
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- Publication type:
- Case Study
Surgical management of digital ischemia caused by constriction band formation in a patient with ichthyosis vulgaris.
- Published in:
- Journal of Surgical Case Reports, 2017, v. 2017, n. 9, p. 1, doi. 10.1093/jscr/rjx183
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- Publication type:
- Article
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.
- Published in:
- 2024
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- Publication type:
- Case Study
STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review.
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- Genes, 2023, v. 14, n. 10, p. 1925, doi. 10.3390/genes14101925
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- Publication type:
- Article
Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.
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- Genes, 2023, v. 14, n. 3, p. 717, doi. 10.3390/genes14030717
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- Publication type:
- Article
Novel Homozygous Mutations in the Genes TGM1 , SULT2B1 , SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis.
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- Genes, 2021, v. 12, n. 3, p. 373, doi. 10.3390/genes12030373
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- Publication type:
- Article
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
- Published in:
- Genes, 2021, v. 12, n. 1, p. 80, doi. 10.3390/genes12010080
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- Publication type:
- Article
Discovery in Genetic Skin Disease: The Impact of High Throughput Genetic Technologies.
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- Genes, 2014, v. 5, n. 3, p. 615, doi. 10.3390/genes5030615
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- Publication type:
- Article
Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden.
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- Acta Dermato-Venereologica, 2023, v. 103, p. 1, doi. 10.2340/actadv.v103.12404
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- Publication type:
- Article
Life-long Skin Eruptions along Blaschko's Lines in a 27-year-old Woman: A Quiz.
- Published in:
- 2021
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- Publication type:
- Case Study
Rolled Hairs in Two Cases of Naevus Comedonicus of the Scalp.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.
- Published in:
- Acta Dermato-Venereologica, 2021, v. 101, n. 9, p. 1, doi. 10.2340/00015555-3887
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- Publication type:
- Article
The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study.
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- Acta Dermato-Venereologica, 2021, v. 101, n. 6, p. 1, doi. 10.2340/00015555-3822
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- Publication type:
- Article
Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases.
- Published in:
- Acta Dermato-Venereologica, 2021, v. 101, n. 3, p. 1, doi. 10.2340/00015555-3720
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- Publication type:
- Article
Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis.
- Published in:
- 2020
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- Publication type:
- Case Study
Recurrent KRT10 Variant in Ichthyosis with Confetti.
- Published in:
- 2020
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- Publication type:
- Case Study
Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.
- Published in:
- Acta Dermato-Venereologica, 2020, v. 100, n. 6, p. 1, doi. 10.2340/00015555-3522
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- Publication type:
- Article
Ichthyosis: A Road Model for Skin Research.
- Published in:
- Acta Dermato-Venereologica, 2020, v. 100, p. 197, doi. 10.2340/00015555-3433
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- Publication type:
- Article
Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
- Published in:
- Acta Dermato-Venereologica, 2020, v. 100, p. 177, doi. 10.2340/00015555-3431
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- Publication type:
- Article
Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.
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- Acta Dermato-Venereologica, 2020, v. 100, n. 2, p. 1, doi. 10.2340/00015555-3359
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- Publication type:
- Article
Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 10, p. 894, doi. 10.2340/00015555-3227
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- Publication type:
- Article
Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 9, p. 828, doi. 10.2340/00015555-3162
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- Publication type:
- Article
Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman- Chanarin Syndrome.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 3, p. 345, doi. 10.2340/00015555-3087
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- Publication type:
- Article
Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient.
- Published in:
- 2018
- By:
- Publication type:
- Case Study