Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis-Reference-Cited by-同舟云学术

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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis

Published:2016-01-13 Issue:1 Volume:11 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Diociaiuti Andrea,El Hachem May,Pisaneschi Elisa,Giancristoforo Simona,Genovese Silvia,Sirleto Pietro,Boldrini Renata,Angioni Adriano

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-016-0384-4

Reference27 articles.

1. Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010;63:607–41.

2. Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009;129:1319–21.

3. Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, et al. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009;46:103–11.

4. Liu L, Li Y, Li S, Hu N, He Y, Pong R, et al. Comparison of next-generation sequencing systems. J Biomed Biotechnol. 2012;2012:251364.

5. Quail MA, Smith M, Coupland P, Otto TD, Harris SR, Connor TR, et al. A tale of three next generation sequencing platforms: comparison of Ion Torrent. Pacific Biosciences and Illumina MiSeq sequencers. BMC Genomics. 2012;13:341.

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1. Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis;Biomedicines;2024-05-17

2. Clinico-Epidemiologic Profile of Non-Syndromic Congenital Ichthyosis – A Retrospective Chart Review of 107 Patients;Indian Journal of Dermatology;2024-03-20

3. Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients;Dermatology;2024

4. Next-generation sequencing in dermatology;Frontiers in Medicine;2023-09-29

5. Keratoderma and ichthyosis as valuable features for the diagnosis of cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome;JAAD Case Reports;2023-09

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