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A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families
Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis ...
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Online First
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study ...
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What can exome sequencing do for you?
3 Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Canada Correspondence to Dr Nada Jabado, Montreal Children's Hospital Research Institute, 4060 Ste Catherine ...
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Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Background Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to ...
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Heritability of metabolic syndrome traits among healthy younger adults: a population based study in China
3 Institute of Dermatology and Department of Dermatology at the First Hospital, Anhui Medical University, Hefei, Anhui, China 4 Key Lab of Gene Resource Utilization for Severe Diseases, Ministry of ...
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Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease
Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King’s College London School of Medicine, Guy’s Campus, London, UK Department of Gastroenterology, Guy’s and ...
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Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature
Division of Pediatric Cardiology, Doernbecher Children’s Hospital, Oregon Health & Science University, Oregon, USA M Silberbach, MD, Department of Pediatrics, CDRC-P, Oregon Health and Science ...
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Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation
The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype ...
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Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.
We report the molecular characterisation of two families with Angelman syndrome referred for prenatal diagnosis, in which atypical molecular findings resulted in counselling dilemmas. The first is a ...
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Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene
1 Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Universite catholique de Louvain, Avenue Hippocrate 74+4, Brussels, Belgium 2 Centre for Human Genetics, ...
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Scientific Writing for Impact Factor Journals
Correspondence to M Alriyami, Department of Experimental Medicine, Research Institute of McGill University Health Centre, 1001 boul Decarie, Site Glen Pavilion E/ Block E, Mail Drop Point #EM0.3211 ...
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The first three mosaic cri du chat syndrome patients with two rearranged cell lines
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