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Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.

作者信息

Scott Claire A, Plagnol Vincent, Nitoiu Daniela, Bland Philip J, Blaydon Diana C, Chronnell Catherine M, Poon Daniel S, Bourn David, Gárdos László, Császár Andrea, Tihanyi Mariann, Rustin Malcolm, Burrows Nigel P, Bennett Chris, Harper John I, Conrad Bernard, Verma Ishwar C, Taibjee Saleem M, Moss Celia, O'Toole Edel A, Kelsell David P

出版信息

J Invest Dermatol. 2013 Feb;133(2):573-6. doi: 10.1038/jid.2012.332. Epub 2012 Sep 20.

DOI:10.1038/jid.2012.332
PMID:22992804
Abstract
摘要

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1
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.靶向序列捕获和高通量测序在鱼鳞病及其他皮肤病分子诊断中的应用
J Invest Dermatol. 2013 Feb;133(2):573-6. doi: 10.1038/jid.2012.332. Epub 2012 Sep 20.
2
Genetic testing and new variants in diagnosis of congenital ichthyoses.遗传性皮肤病的基因检测与新型变异体诊断。
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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.分子检测在鱼鳞病多学科诊断方法中的作用。
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Management of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy.遗传性鱼鳞病及相关疾病的管理：基于基因的诊断和新兴的基因治疗。
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Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome.基因靶向新一代测序在一个患有尼施综合征的近亲家庭中鉴定出一种新型CLDN1突变。
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Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.纯合子定位作为近亲婚配人群遗传性皮肤病分子诊断的筛查工具。
J Am Acad Dermatol. 2006 Sep;55(3):393-401. doi: 10.1016/j.jaad.2006.02.020. Epub 2006 Jun 16.
7
Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management.遗传性鱼鳞病作为罕见皮肤病的范例：基因组医学、发病机制与治疗
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Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.应用靶向高通量 DNA 测序的异质性遗传疾病的分子诊断用于色素性视网膜炎。
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Next generation sequencing is here now.现在新一代测序技术已经问世。
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Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.常染色体隐性先天性鱼鳞病的横断面研究：74 例意大利患者的基因型与疾病严重程度、表型和超微结构特征的相关性。
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Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying Mutations.
携带突变的患者中表现为红细胞角化过度症样表型。
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Next-generation sequencing in dermatology.皮肤病学中的下一代测序技术。
Front Med (Lausanne). 2023 Sep 29;10:1218404. doi: 10.3389/fmed.2023.1218404. eCollection 2023.
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Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report.病例报告：丑角鱼鳞病胎儿的产前诊断发现新的复合杂合变异：病例报告
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Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.与常染色体隐性先天性鱼鳞病（ARCI）相关的新型 CYP4F22 突变。CYP4F22 c.1303C>T 起始突变的研究。
PLoS One. 2020 Feb 18;15(2):e0229025. doi: 10.1371/journal.pone.0229025. eCollection 2020.
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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.在一名厄瓜多尔丑角鱼鳞病患者中鉴定出一种新型ABCA12病理变异：在基因型-表型相关性研究方面向前迈进了一步。
Mol Genet Genomic Med. 2019 May;7(5):e608. doi: 10.1002/mgg3.608. Epub 2019 Mar 27.
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Compound heterozygous mutations with novel missense mutation in harlequin ichthyosis.丑角样鱼鳞病中具有新型错义突变的复合杂合突变。
BMJ Case Rep. 2018 Jan 3;2018:bcr-2017-222025. doi: 10.1136/bcr-2017-222025.
9
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.分子检测在鱼鳞病多学科诊断方法中的作用。
Orphanet J Rare Dis. 2016 Jan 13;11:4. doi: 10.1186/s13023-016-0384-4.
10
[Practical aspects of molecular diagnostics in genodermatoses].遗传性皮肤病分子诊断的实践要点
Hautarzt. 2016 Jan;67(1):53-8. doi: 10.1007/s00105-015-3721-y.