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Will the real Cowden syndrome please stand up: revised diagnostic criteria
Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, 420 W 12th Avenue ...
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The first three mosaic cri du chat syndrome patients with two rearranged cell lines
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Angelman syndrome: a review of the clinical and genetic aspects
Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...
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The genetics of inherited macular dystrophies
Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...
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Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location
a Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK, b Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160, ...
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46,XX/46,XY at amniocentesis in a fetus with true hermaphroditism
Victorian Clinical Genetics Service, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia Cytogenetic Services Victoria, 165 Burwood Road, Hawthorn, Victoria 3122 ...
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wANNOVAR: annotating genetic variants for personal genomes via the web
1 Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA 2 Department of Psychiatry and Department of Preventive Medicine, Keck School ...
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A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents
Center of Anatomy and Cell Biology, Medical University of Vienna, Vienna, Austria Dr K Szuhai, Department of Molecular Cell Biology, zone S-1-P, Leiden University Medical Center, PO Box 9600, 2300 RC ...
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Rett syndrome: clinical review and genetic update
1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...
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Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome
1 Section on Epigenetics and Development, National Institute of Child Health and Human Development, Bethesda, Maryland, USA 2 Cardiovascular and Pulmonary Branch, National Heart, Lung and Blood ...
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Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects
1 Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy 2 Department of Molecular Biology, Section of ...
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Genetic causes of optic nerve hypoplasia
Correspondence to Dr Christian P Schaaf, Department of Molecular and Human Genetics, Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Baylor College of Medicine, 1250 ...