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16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Autor: Allach El Khattabi L; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.; Department of Development, Reproduction and Cancer, Cochin Research Institute, INSERM U1016, CNRS UMR8104, Paris, France.; Nuclear Lymphocyte Biology, NIAMS, National Institutes of Health, Bethesda, Maryland, United States., Heide S; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France., Caberg JH; Genetics department, CHU de Liège - UniLab Lg, Liège, Belgium., Andrieux J; Genetics department, Jeanne de Flandre Hospital, CHRU de Lille, Lille, France., Doco Fenzy M; Genetics department, CHU Reims, Medical school IFR53, EA3801, Reims, France., Vincent-Delorme C; Genetics department, Guy Fontaine Medical center, CLAD Nord de France, Jeanne de Flandre Hospital, CHRU Lille, CH Arras, Arras, France., Callier P; Genetics department, CHU de Dijon, Dijon, France., Chantot-Bastaraud S; Genetics and Embryology department, Armand-Trousseau Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France., Afenjar A; Neuropediatrics department, Armand-Trousseau Hospital, Assistance Publique des Hôpitaux de Paris; Reference Center for cerebellar malformations, Paris, France., Boute-Benejean O; Genetics department, Guy Fontaine Medical Center, CLAD Nord de France, Jeanne de Flandre Hospital, CHRU Lille, Lille, France., Cordier MP; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France., Faivre L; Genetics department, CHU de Dijon, Dijon, France., Francannet C; Medical Genetics department, Hôtel Dieu Hospital, Clermont-Ferrand, France., Gerard M; Genetics department, CHU Côte de Nacre, Caen, France., Goldenberg A; Medical Genetics department, CHU Ch. Nicolle, Rouen, France., Masurel-Paulet A; Genetics department, CHU de Dijon, Dijon, France., Mosca-Boidron AL; Genetics department, CHU de Dijon, Dijon, France., Marle N; Genetics department, CHU de Dijon, Dijon, France., Moncla A; Medical Genetics department, CHU Timone enfants, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Le Meur N; Department of Genetics, Reproductive biology and Histology, CHU de Rouen, Rouen, France., Mathieu-Dramard M; Clinical Genetics department, CHU d'Amiens, Amiens, France., Plessis G; Genetics department, CHU Côte de Nacre, Caen, France., Lesca G; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France., Rossi M; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France., Edery P; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France., Delahaye-Duriez A; Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France.; Division of Brain Sciences, Faculty of Medicine, Imperial College, London, UK., De Pontual L; Pediatrics department, Jean Verdier Hospital, Assistance Publique des Hôpitaux de Paris, Paris 13 University, Bondy, France., Tabet AC; Genetics department, CHU Robert Debré, Assistance Publique des Hôpitaux de Paris, Paris, France., Lebbar A; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France., Suiro L; Neuropediatrics department, Hôpital Raymond Poincaré, Assistance Publique des Hôpitaux de Paris, Garches, France., Ioos C; Neuropediatrics department, Hôpital Raymond Poincaré, Assistance Publique des Hôpitaux de Paris, Garches, France., Natiq A; Medical Genetics department, Institut National d'Hygiène, Rabat, Morocco., Chafai Elalaoui S; Medical Genetics department, Institut National d'Hygiène, Rabat, Morocco., Missirian C; Medical Genetics department, CHU Timone enfants, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Receveur A; Cytogenetics and Reproductive Biology department, CHU d'Amiens, Amiens, France., François-Fiquet C; Plastic reconstructive and aesthetic surgery, Maison Blanche Hospital, Robert Debré Hospital, Reims, France., Garnier P; Pediatrics, CAMSP, Troyes, France., Yardin C; Department of Histology, Cytology, Cytogenetics, Cell Biology and Reproduction, Limoges University Hospital, Limoges, France., Laroche C; Pediatrics department, Limoges University Hospital, Limoges, France., Vago P; Cytogenetics department, CHU Clermont-Ferrand, ERTICA, Auvergne University, Clermont-Ferrand, France., Sanlaville D; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France., Dupont JM; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.; Department of Development, Reproduction and Cancer, Cochin Research Institute, INSERM U1016, CNRS UMR8104, Paris, France., Benzacken B; Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France., Pipiras E; Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France.

Publikováno v: Journal of medical genetics [J Med Genet] 2020 May; Vol. 57 (5), pp. 301-307. Date of Electronic Publication: 2018 Oct 04.