Literature DB >> 28895042

Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies.

Bharti Singh1, Kausik Mandal2, Meenakshi Lallar1, Dhanya Lakshmi Narayanan1, Shivani Mishra1, Poonam Singh Gambhir1, Shubha R Phadke1.   

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Year:  2017        PMID： 28895042     DOI： 10.1007/s12098-017-2455-5

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  3 in total

1.  Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

Authors:  Yasuhiro Takeshima; Mariko Yagi; Yo Okizuka; Hiroyuki Awano; Zhujun Zhang; Yumiko Yamauchi; Hisahide Nishio; Masafumi Matsuo
Journal:  J Hum Genet       Date:  2010-05-20       Impact factor: 3.172

2.  Corrigendum to "The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)": [Neuromuscular Disorders Volume 25 (2015) 991-1020].

Authors:  Jean-Claude Kaplan; Dalil Hamroun
Journal:  Neuromuscul Disord       Date:  2016 Apr-May       Impact factor: 4.296

Review 3.  Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders.

Authors:  Vincenzo Nigro; Marco Savarese
Journal:  Curr Opin Neurol       Date:  2016-10       Impact factor: 5.710
  3 in total
  5 in total

1.  Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum.

Authors:  Gayatri Nerakh; Prajnya Ranganath; Sakthivel Murugan
Journal:  J Pediatr Genet       Date:  2020-07-08

2.  Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.

Authors:  Dong Wang; Min Gao; Kaihui Zhang; Ruifeng Jin; Yuqiang Lv; Yong Liu; Jian Ma; Ya Wan; Zhongtao Gai; Yi Liu
Journal:  Front Pharmacol       Date:  2019-07-25       Impact factor: 5.810

Review 3.  Genomics of rare genetic diseases-experiences from India.

Authors:  Sridhar Sivasubbu; Vinod Scaria
Journal:  Hum Genomics       Date:  2019-09-25       Impact factor: 4.639

4.  Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Authors:  Miguel Angel Alcántara-Ortigoza; Miriam Erandi Reyna-Fabián; Ariadna González-Del Angel; Bernardette Estandia-Ortega; Cesárea Bermúdez-López; Gabriela Marisol Cruz-Miranda; Matilde Ruíz-García
Journal:  Genes (Basel)       Date:  2019-10-29       Impact factor: 4.096

5.  Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients.

Authors:  Xinguo Lu; Chunxi Han; Jiahui Mai; Xianping Jiang; Jianxiang Liao; Yanqi Hou; Di Cui
Journal:  Front Genet       Date:  2021-04-16       Impact factor: 4.599
  5 in total

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