Predictive phenotyping of inherited ichthyosis by next‐generation DNA sequencing-Reference-Cited by-同舟云学术

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Predictive phenotyping of inherited ichthyosis by next‐generation DNA sequencing

Published:2016-12-07 Issue:1 Volume:176 Page:249-251
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Saito R.¹²,Boyce A.¹³,Hsu C.‐K.¹⁴⁵,Rashidghamat E.¹,Hide M.²,Wedgeworth E.K.³,Flohr C.¹³,Mellerio J.E.¹³,McGrath J.A.¹

Affiliation:

1. St John's Institute of Dermatology King's College London Guy's Hospital London U.K.

2. Department of Dermatology Hiroshima University Hiroshima Japan

3. St John's Institute of Dermatology Guy's and St Thomas’ NHS Foundation Trust London U.K.

4. Department of Dermatology National Cheng Kung University Hospital College of Medicine National Cheng Kung University Tainan Taiwan

5. Institute of Clinical Medicine College of Medicine National Cheng Kung University Tainan Taiwan

Funder

Department of Health

National Institute for Health Research

Guy's and St Thomas' NHS Foundation Trust

King’s College London

King's College Hospital NHS Foundation Trust

Great Britain Sasakawa Foundation

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.14807

Reference14 articles.

1. Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

2. Targeted Sequence Capture and High-Throughput Sequencing in the Molecular Diagnosis of Ichthyosis and Other Skin Diseases

3. Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations

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

5. A Review of Next-Generation Genetic Testing for the Dermatologist

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1. Investigating the Genetic Cause of Ichthyosis Disease in a Family with Exome Sequencing;Gene, Cell and Tissue;2024-06-10

2. Prenatal diagnosis of ichthyosis congenita gravis (Harlequin ichthyosis [HI]) using 3D sonography;Ultraschall in der Medizin - European Journal of Ultrasound;2023-12

3. High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect;International Journal of Dermatology;2020-05-21

4. Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese;Clinical Genetics;2020-02-09

5. Arginine‐ but not alanine‐rich carboxy‐termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti;Journal of Cellular and Molecular Medicine;2019-10-22

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