Literature DB >> 26104111

Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient.

Aneek Das Bhowmik1, Ashwin B Dalal1, Divya Matta1, C Sundaram2, Shagun Aggarwal3,4.   

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Year:  2015        PMID： 26104111     DOI： 10.1007/s12098-015-1822-3

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


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  2 in total

1.  Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

Authors:  C Alexander Valencia; Devin Rhodenizer; Shruti Bhide; Ephrem Chin; Martin Robert Littlejohn; Lisa Mari Keong; Anne Rutkowski; Carsten Bonnemann; Madhuri Hegde
Journal:  J Mol Diagn       Date:  2012-03-16       Impact factor: 5.568

2.  LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.

Authors:  J Oliveira; R Santos; I Soares-Silva; P Jorge; E Vieira; M E Oliveira; A Moreira; T Coelho; J C Ferreira; M J Fonseca; C Barbosa; J Prats; M L Aríztegui; M L Martins; T Moreno; K Heinimann; C Barbot; S I Pascual-Pascual; A Cabral; I Fineza; M Santos; E Bronze-da-Rocha
Journal:  Clin Genet       Date:  2008-06-11       Impact factor: 4.438
  2 in total
  3 in total

Review 1.  Next Generation Sequencing in the Clinic.

Authors:  Ratna Dua Puri
Journal:  Indian J Pediatr       Date:  2016-02-13       Impact factor: 1.967

2.  Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report.

Authors:  Mutaz Amin; Yousuf Bakhit; Mahmoud Koko; Mohamed Osama Mirgahni Ibrahim; M A Salih; Muntaser Ibrahim; Osheik A Seidi
Journal:  Acta Myol       Date:  2019-03-01

3.  Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.

Authors:  Afshin Khorrami; Pouya Goleij; Vahidreza Karamad; Elham Taheri; Behrouz Shadman; Parisa Emami; Gholamreza Jahangirzadeh; Saba Hajazimian; Alireza Isazadeh; Behzad Baradaran; Mansour Heidari
Journal:  J Clin Lab Anal       Date:  2021-09-16       Impact factor: 2.352
  3 in total

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