The Use of Next-Generation Sequencing in Molecular Diagnosis of Neurofibromatosis Type 1: A Validation Study-Reference-Cited by-同舟云学术

The Use of Next-Generation Sequencing in Molecular Diagnosis of Neurofibromatosis Type 1: A Validation Study

Published:2014-11 Issue:11 Volume:18 Page:722-735
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Maruoka Ryo¹²,Takenouchi Toshiki¹³,Torii Chiharu¹,Shimizu Atsushi⁴,Misu Kumiko¹,Higasa Koichiro⁵,Matsuda Fumihiko⁵,Ota Arihito⁶,Tanito Katsumi⁶,Kuramochi Akira⁷,Arima Yoshimi⁸,Otsuka Fujio⁹,Yoshida Yuichi¹⁰,Moriyama Keiji²,Niimura Michihito⁶,Saya Hideyuki⁸,Kosaki Kenjiro¹

Affiliation:

1. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

2. Section of Maxillofacial Orthognathics, Division of Maxillofacial/Neck Reconstruction, Department of Maxillofacial Reconstruction and Function, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.

3. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

4. Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Iwate, Japan.

5. Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.

6. Department of Dermatology, Jikei University School of Medicine, Tokyo, Japan.

7. Department of Dermatology, Saitama Medical University, Saitama, Japan.

8. Division of Gene Regulation, Institute for Advanced Medical Research, Keio University School of Medicine, Tokyo, Japan.

9. Department of Dermatology, Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Japan.

10. Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, Yonago, Japan.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2014.0109

Reference47 articles.

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4. Screening for CHARGE Syndrome Mutations in the CHD7 Gene Using Denaturing High-Performance Liquid Chromatography

5. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

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