Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.
Noureldeen MM et al.
Italian Journal of Pediatrics, 2025
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.
Chausova P et al.
International Journal of Molecular Sciences, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T et al.
Neurogenetics, 2024
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.
Safwat S et al.
Neurogenetics, 2024
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
Stojkovic T et al.
Journal of Neuromuscular Diseases, 2023
Rimmed vacuoles in late-onset LAMA2-related limb girdle muscular dystrophy.
Cho J et al.
Acta Neurologica Belgica, 2021
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 et al.
Bmc Medical Genomics, 2021
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.
Cauley ES et al.
Molecular Genetics & Genomic Medicine, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Oliveira J et al.
Human Mutation, 2018
Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.
Kim MW et al.
Annals of Laboratory Medicine, 2017
Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2.
Yiş U et al.
The Turkish Journal of Pediatrics, 2017
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
Allamand V et al.
European Journal of Human Genetics : Ejhg, 2002
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.
Pegoraro E et al.
Neurology, 1998
Two families with late onset pseudohypertrophic muscular dystrophy (Becker type).
Lee WL et al.
The Journal of the Singapore Paediatric Society, 1981