17 Department of Digestive Surgery, Hospital Saint-Antoine, University Pierre et Marie, Paris, France 18 Department of Surgery, Helsinki University Central Hospital, Helsinki, Finland Lynch syndrome ...
Correspondence to Dr Jennifer M Kalish, Division of Human Genetics, The Children's Hospital of Philadelphia, 1002 Abramson Research Center, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA; kalishj ...
Correspondence to Dr Olivier Duverger, Craniofacial Anomalies and Regeneration Section, National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA; olivier.duverger{at}nih.gov; Dr ...
An association between the occurrence of club foot and early amniocentesis has been reported. The largest of these randomised studies was the Canadian Early and Mid-Trimester Amniocentesis Trial. Data ...
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 ...
Background Short-read genome sequencing (sr-GS) affords efficient and accurate characterisation of apparently balanced chromosomal rearrangement (ABCR) breakpoints except in 9%–11% of cases that ...
Background Hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) can be caused by SMAD4 pathogenic variants. SMAD4 is a common transcription factor of the BMP/TGFβ ...
2 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada 3 Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, ...
Purpose: To determine a gene locus for a family with a dominantly inherited vestibulocerebellar disorder characterised by early onset, but not congenital nystagmus. Design: Observational and ...
Surveillance is increasingly considered an alternative to prophylactic total gastrectomy in asymptomatic carriers of CDH1 pathogenic variants. There are three main reasons for this paradigm shift: (1) ...
Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...
Background Acyl-CoA binding domain containing protein 5 (ACBD5) is a peroxisomal membrane protein with a cytosolic acyl-CoA binding domain. Because of its acyl-CoA binding domain, ACBD5 has been ...
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