201 related articles for article (PubMed ID: 29707938)
1. Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy.
Hashemi-Gorji F; Yassaee VR; Dashti P; Miryounesi M
Iran Biomed J; 2018 Nov; 22(6):408-14. PubMed ID: 29707938
[TBL] [Abstract][Full Text] [Related]
2. Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.
Khorrami A; Goleij P; Karamad V; Taheri E; Shadman B; Emami P; Jahangirzadeh G; Hajazimian S; Isazadeh A; Baradaran B; Heidari M
J Clin Lab Anal; 2021 Nov; 35(11):e23930. PubMed ID: 34528292
[TBL] [Abstract][Full Text] [Related]
3. Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene.
Turner C; Mein R; Sharpe C; Love DR
J Clin Neurosci; 2015 Dec; 22(12):1983-5. PubMed ID: 26249246
[TBL] [Abstract][Full Text] [Related]
4. Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.
Louhichi N; Richard P; Triki CH; Meziou M; Ayadi H; Guicheney P; Fakhfakh F
Arch Inst Pasteur Tunis; 2006; 83(1-4):19-23. PubMed ID: 19388593
[TBL] [Abstract][Full Text] [Related]
5. Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.
El Kadiri Y; Ratbi I; Laarabi FZ; Kriouile Y; Sefiani A; Lyahyai J
BMC Med Genomics; 2021 Apr; 14(1):113. PubMed ID: 33882917
[TBL] [Abstract][Full Text] [Related]
6. Targeted next generation sequencing reveals a novel intragenic deletion of the LAMA2 gene in a patient with congenital muscular dystrophy.
Yang Y; Mao B; Wang L; Mao L; Zhou A; Cao J; Hu J; Zhou Y; Pan Y; Wei X; Yang S; Mu F; Liu Z
Mol Med Rep; 2015 May; 11(5):3687-93. PubMed ID: 25544356
[TBL] [Abstract][Full Text] [Related]
7. Merosin-deficient congenital muscular dystrophy type 1A.
Buteică E; Roşulescu E; Burada F; Stănoiu B; Zăvăleanu M
Rom J Morphol Embryol; 2008; 49(2):229-33. PubMed ID: 18516331
[TBL] [Abstract][Full Text] [Related]
8. Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.
Abdel Aleem A; Elsaid MF; Chalhoub N; Chakroun A; Mohamed KAS; AlShami R; Kuzu O; Mohamed RB; Ibrahim K; AlMudheki N; Osman O; Ross ME; ELalamy O
Neuromuscul Disord; 2020 Jun; 30(6):457-471. PubMed ID: 32444167
[TBL] [Abstract][Full Text] [Related]
9. Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.
Ding J; Zhao D; Du R; Zhang Y; Yang H; Liu J; Yan C; Zhang F; Xiong H
Brain Dev; 2016 Feb; 38(2):242-9. PubMed ID: 26304763
[TBL] [Abstract][Full Text] [Related]
10. A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A.
Specht S; Duff J; Charlton R; Polvikoski T; Barresi R; Töpf A; Straub V
Neuromuscul Disord; 2021 Jul; 31(7):660-665. PubMed ID: 34074572
[TBL] [Abstract][Full Text] [Related]
11. PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Guicheney P; Vignier N; Zhang X; He Y; Cruaud C; Frey V; Helbling-Leclerc A; Richard P; Estournet B; Merlini L; Topaloglu H; Mora M; Harpey JP; Haenggeli CA; Barois A; Hainque B; Schwartz K; Tomé FM; Fardeau M; Tryggvason K
J Med Genet; 1998 Mar; 35(3):211-7. PubMed ID: 9541105
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
Vainzof M; Richard P; Herrmann R; Jimenez-Mallebrera C; Talim B; Yamamoto LU; Ledeuil C; Mein R; Abbs S; Brockington M; Romero NB; Zatz M; Topaloglu H; Voit T; Sewry C; Muntoni F; Guicheney P; Tomé FM
Neuromuscul Disord; 2005 Oct; 15(9-10):588-94. PubMed ID: 16084089
[TBL] [Abstract][Full Text] [Related]
13. Merosin-deficient congenital muscular dystrophy type 1a: detection of
Tran VK; Nguyen NL; Tran LNT; Le PT; Tran AH; Pham TLA; Lien NTK; Xuan NT; Thanh LT; Ta TV; Tran TH; Nguyen HH
Front Genet; 2023; 14():1183663. PubMed ID: 37388928
[No Abstract] [Full Text] [Related]
14. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
Allamand V; Guicheney P
Eur J Hum Genet; 2002 Feb; 10(2):91-4. PubMed ID: 11938437
[TBL] [Abstract][Full Text] [Related]
15. Rare variant in
Amin M; Bakhit Y; Koko M; Ibrahim MOM; Salih MA; Ibrahim M; Seidi OA
Acta Myol; 2019 Mar; 38(1):21-24. PubMed ID: 31309178
[TBL] [Abstract][Full Text] [Related]
16. Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior.
Nouri Z; Sarmadi A; Narrei S; Sehhati M; Tabatabaiefar MA
Neuromuscul Disord; 2022 Sep; 32(9):776-784. PubMed ID: 35989179
[TBL] [Abstract][Full Text] [Related]
17. Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.
Guicheney P; Vignier N; Helbling-Leclerc A; Nissinen M; Zhang X; Cruaud C; Lambert JC; Richelme C; Topaloglu H; Merlini L; Barois A; Schwartz K; Tomé FM; Tryggvason K; Fardeau M
Neuromuscul Disord; 1997 May; 7(3):180-6. PubMed ID: 9185182
[TBL] [Abstract][Full Text] [Related]
18. LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
Di Blasi C; Piga D; Brioschi P; Moroni I; Pini A; Ruggieri A; Zanotti S; Uziel G; Jarre L; Della Giustina E; Scuderi C; Jonsrud C; Mantegazza R; Morandi L; Mora M
Arch Neurol; 2005 Oct; 62(10):1582-6. PubMed ID: 16216942
[TBL] [Abstract][Full Text] [Related]
19. Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.
Naom I; D'Alessandro M; Sewry CA; Philpot J; Manzur AY; Dubowitz V; Muntoni F
Neuromuscul Disord; 1998 Oct; 8(7):495-501. PubMed ID: 9829280
[TBL] [Abstract][Full Text] [Related]
20. LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Oliveira J; Gruber A; Cardoso M; Taipa R; Fineza I; Gonçalves A; Laner A; Winder TL; Schroeder J; Rath J; Oliveira ME; Vieira E; Sousa AP; Vieira JP; Lourenço T; Almendra L; Negrão L; Santos M; Melo-Pires M; Coelho T; den Dunnen JT; Santos R; Sousa M
Hum Mutat; 2018 Oct; 39(10):1314-1337. PubMed ID: 30055037
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
