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19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation
Background: Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan–Diamond syndrome due to haploinsufficiency of the RPS19 gene.
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17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction
Background: Microdeletions at 17q21.31 have recently been shown to cause a novel syndrome. Here we identify the reciprocal 17q21.31 duplication syndrome in 4 patients. Method: Patients with the ...
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Channelopathies: ion channel defects linked to heritable clinical disorders
Department of Physiology, Biophysics, and Neuroscience, Center for Research and Advanced Studies of the National Polytechnic Institute (Cinvestav-IPN), Mexico ...
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Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3–14
1 Centre for Diabetes and Endocrine Research, University of Queensland School of Medicine, Princess Alexandra Hospital, Ipswich Rd, Woolloongabba, Qld 4102, Australia 2 The Queensland Institute of ...
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Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients
7 INSERM U621, IFR 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France 8 Laboratoire de génétique et insuffisance cardiaque, Association Claude Bernard, IFR 14, Groupe Hospitalier ...
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Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B
Facioscapulohumeral muscular dystrophy (FHSD) is a genetically heterogeneous, autosomal dominant primary disease of muscle. The predominant form of FSHD, which has been designated FSHD1A, has been ...
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Lessons from predictive testing for Huntington disease: 25 years on
1 Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada 2 W. Maurice Young Centre for Applied Ethics, University of British Columbia, Vancouver, BC, ...
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Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism
1 Molecular Medicine Unit, University of Leeds, St James’s University Hospital, Leeds, UK 2 Department of Clinical Genetics, St James’s University Hospital, Leeds, UK Aicardi-Goutiéres syndrome (AGS) ...
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The telecanthus-hypospadias syndrome.
Department of Pediatrics, University of Utah, Salt Lake City 84132. The telecanthus-hypospadias (BBB) syndrome is characterised by widely spaced inner ocular canthi and hypospadias of variable degree.
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Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
Correspondence to: Professor Kate Bushby Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK; ...
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Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy
3 Asan Institute for Life Sciences, Asan Medical Center, College of Medicine University of Ulsan, Seoul, The Republic of Korea Background Ambroxol (ABX) has been suggested as an augmentative ...