A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia-Reference-Cited by-同舟云学术

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A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia

Published:2018-06 Issue:3 Volume:45 Page:585-591
ISSN:0385-8146
Container-title:Auris Nasus Larynx
language:en
Short-container-title:Auris Nasus Larynx

Author:

Takeuchi Kazuhiko,Kitano Masako,Kiyotoshi Hiroko,Ikegami Koji,Ogawa Satoru,Ikejiri Makoto,Nagao Mizuho,Fujisawa Takao,Nakatani Kaname

Publisher

Elsevier BV

Subject

General Medicine,Otorhinolaryngology,Surgery

Reference19 articles.

1. Immotile-cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome;Afzelius,1995

2. Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects;Paff;Am J Hum Genet,2017

3. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3;Olcese;Nat Commun,2017

4. ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities;Sommer;Eur Arch Otorhinolaryngol,2011

5. Recent advances in primary ciliary dyskinesia;Takeuchi;Auris Nasus Larynx,2016

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1. A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea;Journal of Human Genetics;2024-08-16

2. Practical guide for the diagnosis and management of primary ciliary dyskinesia;Auris Nasus Larynx;2024-06

3. Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene;Cureus;2024-04-23

4. Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings;Yonsei Medical Journal;2024

5. Analysis of Aberrant Splicing Events and Gene Expression Outliers in Primary Ciliary Dyskinesia;American Journal of Respiratory Cell and Molecular Biology;2023-06

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