CHIPS for genetic testing to improve a regional clinical genetic service-Reference-Cited by-同舟云学术

CHIPS for genetic testing to improve a regional clinical genetic service

Published:2014-09-05 Issue:2 Volume:88 Page:155-160
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Niida Y.¹²,Ozaki M.¹²,Inoue M.³,Takase E.²,Kuroda M.³,Mitani Y.³,Okumura A.³,Yokoi A.³,Fujita S.⁴,Yamada K.⁵

Affiliation:

1. Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute; Kanazawa Medical University; Uchinada Japan

2. Center for Medical Genetics; Kanazawa Medical University Hospital; Uchinada Japan

3. Department of Pediatrics; Kanazawa University Graduate School of Medical Science; Kanazawa Japan

4. Department of Pediatrics; Toyama Prefectural Central Hospital; Toyama Japan

5. Department of Pediatrics; Tonami General Hospital; Toyama Japan

Funder

Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan, and a grant from the Ministry of Health, Labor, and Welfare of Japan, Tokyo

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Towards quality assurance and harmonization of genetic testing services in the European Union;Ibarreta;Nat Biotechnol,2004

2. Development of a simple and highly sensitive mutation screening system by enzyme mismatch cleavage with optimized conditions for standard laboratories;Tsuji;Electrophoresis,2008

3. Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis;Niida;Mol Genet Metab,2012

4. Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported;Niida;J Hum Genet,2013

5. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype;Gupta;Hum Mutat,2002

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Streamlining Genetic Diagnosis With Long-Range Polymerase Chain Reaction (PCR)-Based Next-Generation Sequencing for Type I and Type II Collagenopathies;Cureus;2023-12-13

2. Target-capture full-length double-stranded cDNA long-read sequencing through Nanopore revealed novel intron retention in patient with tuberous sclerosis complex;Frontiers in Genetics;2023-09-27

3. Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex;International Journal of Molecular Sciences;2022-09-22

4. Challenges in the Diagnosis and Treatment of Patients with Rare and Orphan Diseases;Journal of Health and Allied Sciences NU;2022-09-20

5. Optimization and Validation of Multimodular, Long-Range PCR–Based Next-Generation Sequencing Assays for Comprehensive Detection of Mutation in Tuberous Sclerosis Complex;The Journal of Molecular Diagnostics;2021-04