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Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders
Professor B Franco, Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy; franco{at}tigem.it If you wish to reuse any ...
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Fetal akinesia: review of the genetics of the neuromuscular causes
3 Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, New South Wales, Australia ...
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Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
Background The effect of complex alleles in cystic fibrosis (CF) is poorly defined for the lack of functional studies. Methods We studied 70 homozygous, compound heterozygous or heterozygous for CFTR ...
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An investigation of ACE as a risk factor for dementia and cognitive decline in the general population
1 Department of Public Health and Primary Care, University Forvie Site, Robinson Way, Cambridge CB2 2SR, UK 2 Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC ...
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Prevalence and heritability of the metabolic syndrome and its individual components in a Dutch isolate: the Erasmus Rucphen Family study
Background: Metabolic syndrome (MetS) is defined by a combination of abnormalities that are all individual risk factors for the development of type 2 diabetes and/or cardiovascular disease. The ...
jmg.bmj12d
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping
3 NHC Key Laboratory of Birth Defects and Reproductive Health, Chongqing Key Laboratory of Birth Defects and Reproductive Health, Chongqing Population and Family Planning, Science and Technology ...
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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
Purpose Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is ...
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Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort
1 Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China Correspondence to Yulan Lu, Children's Hospital & ...
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In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2
Correspondence to Professor Angela T Morgan, Speech and Language, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia; angela.morgan{at}mcri.edu.au Background Heterozygous ...
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Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2
*Unit on Genetics and Endocrinology (UGEN), Developmental Endocrinology Branch, (DEB), National Institute of Child Health and Human Development (NICHD), Building 10, Room 10N262, 10 Center Drive, ...
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Clinical features of type 2 Stickler syndrome
4 Department of Radiology, Addenbrooke’s NHS Trust, Cambridge, UK 5 Department of Audiology, Addenbrooke’s NHS Trust, Cambridge, UK Correspondence to: M P Snead Vitreoretinal Service, Box 41, ...