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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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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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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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Myasthenia gravis genome-wide association study implicates AGRN as a risk locus
4 The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus Correspondence to Dr Peristera Paschou, Department of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA; ...
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Online First
Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testing ...
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TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
Introduction TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent ...
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Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper
The veracity of the estimates in our study was corroborated by a whole population epidemiological study of NF1 in Finland (population 5.5M).5 A total of 58 MPNST were observed from 1987 to 2012, ...
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Paediatric ovarian tumours and their associated cancer susceptibility syndromes
Correspondence to Dr William D Foulkes, Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec H4A 3J1, Canada; william.foulkes{at}mcgill.ca Non-epithelial ovarian tumours ...