2 Center for Human Genomics, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA 3 Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC, USA 8 ...

We report on a father and daughter with a partial 9p duplication, dup(9)(p22p24). Their phenotype, albeit mild, is characteristic of partial trisomy 9p. Fluorescence in situ hybridisation (FISH) was ...

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth ...

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition,FRDA, has led to ...

In 1997, the Journal of Medical Genetics published our paper on the spectrum of clinical features associated with interstitial chromosome 22q11 deletions. This copy number variation is associated with ...

1 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany 2 German Research Center for Neurodegenerative Diseases (DZNE), ...

8 Lipoproteins and Atherosclerosis Unit, University of Ottawa Heart Institute, Ottawa, ON, Canada Correspondence to: Dr F Tesson University of Ottawa Heart Institute, 40 Ruskin Street, Ottawa, Ontario ...

6 Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA 7 Interdisciplinary Pediatric Center for Children ...

Correspondence to Dr Malte Lenders, Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology, University Hospital Muenster, Muenster D-48149, Germany; ...

1 Institute of Genomic and Personalized Medicine, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, China 2 Wuhan Women and Children Hospital, Wuhan, ...

Correspondence to R F Kooy, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium; Frank.Kooy{at}ua.ac.be Fragile X syndrome, the main cause of inherited ...

Introduction Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disorder classically associated with multiple basal cell carcinomas, odontogenic keratocysts and skeletal ...