Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Ophthalmologic manifestations associated with Fukutin (FKTN) variant subtypes in Korean patients with Fukuyama congenital muscular dystrophy: a single-center retrospective case series.
Lee SJ et al.
Bmc Ophthalmology, 2025
Relationship between prenatal ultrasound signs and genetic abnormalities for fetal malformations of cortical development.
Chen J et al.
Ultraschall in Der Medizin (stuttgart, Germany : 1980), 2025
Neuromuscular diseases: genomics-driven advances.
Cho A
Genomics & Informatics, 2024
Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.
Hirono K et al.
Journal of the American Heart Association, 2024
Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features.
Diogo R et al.
Cureus, 2023
Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview.
Mohamadian M et al.
Journal of Molecular Neuroscience : Mn, 2022
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.
Kobayashi K et al.
Journal of Human Genetics, 2017
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Kitamura Y et al.
Journal of Human Genetics, 2016
Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.
Yang H et al.
Brain & Development, 2015
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.
Fiorillo C et al.
Neuromuscular Disorders : Nmd, 2013
A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.
Costa C et al.
Neuromuscular Disorders : Nmd, 2013
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis U et al.
Neuromuscular Disorders : Nmd, 2011
A case of Fukuyama congenital muscular dystrophy associated with negative electroretinograms.
Kondo H et al.
Japanese Journal of Ophthalmology, 2010
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient.
Xiong H et al.
American Journal of Medical Genetics. Part A, 2009
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Vuillaumier-Barrot S et al.
Neuromuscular Disorders : Nmd, 2009
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Manzini MC et al.
Human Mutation, 2008
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
Cotarelo RP et al.
Clinical Genetics, 2008
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
Yoshioka M et al.
Brain & Development, 2008
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
Matsumoto H et al.
Neuromuscular Disorders : Nmd, 2005
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
de Bernabé DB et al.
Journal of Medical Genetics, 2003
Neuronal expression of the fukutin gene.
Sasaki J et al.
Human Molecular Genetics, 2000
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).
Kondo-Iida E et al.
Human Molecular Genetics, 1999
[Molecular genetics and merosin abnormality in Fukuyama-type congenital muscular dystrophy (FCMD)].
Toda T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1997