3 results match your criteria: "INSERM UMR_S938 Centre de Recherche Saint-Antoine[Affiliation]"
CUGC for Simpson-Golabi-Behmel syndrome (SGBS).
Eur J Hum Genet
April 2019
Service de Génétique, Centre Hospitalier Universitaire, Tours, France.
Name Of The Disease (synonyms): Simpson-Golabi-Behmel syndrome (SGBS). OMIM# OF THE DISEASE: 312870.
Name Of The Analysed Genes Or Dna/chromosome Segments: GPC3.
Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.
Eur J Hum Genet
April 2018
Sorbonne Université, INSERM UMR_S938 Centre de Recherche Saint-Antoine, AP-HP, Hôpital Trousseau, F-75012, Paris, France.
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Nat Rev Endocrinol
April 2018
Department of Medical Genetics, University of Cambridge and National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour.
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