3q29 duplications: A cohort of 46 patients and a literature review.

Autor: Massier M; Department of Genetics, Reims University Hospital, Reims, France., Doco-Fenzy M; Department of Genetics, Reims University Hospital, Reims, France.; Department of Genetics, Nantes University Hospital, Nantes, France., Egloff M; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, INSERM, LNEC, Department of Genetics, Poitiers University Hospital, Poitiers, France., Le Guillou X; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, CNRS, LMA, Department of Genetics, Poitiers University Hospital, Poitiers, France., Le Guyader G; Department of Genetics, Poitiers University Hospital, Poitiers, France., Redon S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Benech C; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Le Millier K; Department of Genetics, Brest University Hospital, Brest, France., Uguen K; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Ropars J; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Sacaze E; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Audebert-Bellanger S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France., Apetrei A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Molin A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Gruchy N; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Vincent-Devulder A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France., Spodenkiewicz M; Department of Genetics, Le Reunion University Hospital, St-Pierre, France., Jacquin C; Department of Genetics, Reims University Hospital, Reims, France., Loron G; Department of Neonatal Medicine and Pediatric Intensive Care, University of Reims Champagne-Ardenne, CReSTIC, Reims University Hospital, Reims, France., Thibaud M; Department of Pediatrics, American Memorial Hospital, Reims, France., Delplancq G; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France., Brisset S; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France., Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Malan V; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Romana S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Marlin S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Amiel J; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Marquet V; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France., Dauriat B; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France., Moradkhani K; Department of Genetics, Nantes University Hospital, Nantes, France., Mercier S; Department of Genetics, Nantes University Hospital, Nantes, France., Isidor B; Department of Genetics, Nantes University Hospital, Nantes, France., Arpin S; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Pujalte M; Department of Genetics, Hospices Civils de Lyon, Lyon, France., Jedraszak G; Constitutional Genetic Laboratory, University Hospital of Amiens & UR4666 HEMATIM, University of Picardie Jules Verne, Amiens, France., Pebrel-Richard C; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Salaun G; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Laffargue F; Department of Medical Genetics, UIC ADDIR (GRIUC ADERGEN), Constitutive Reference Center CLAD South-East: Developmental anomalies and malformative syndromes, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Boudjarane J; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Missirian C; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France., Chelloug N; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France., Toutain A; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Chiesa J; Department of Genetics, Nimes, University Hospital, Nimes University Hospital, Nimes, France., Keren B; Department of Genetics, APHP Sorbonne University, Paris, France., Mignot C; Department of Genetics, APHP Sorbonne University, Paris, France., Gouy E; Department of Genetics, Hospices Civils de Lyon, Lyon, France., Jaillard S; Department of Cytogenetics and Cell Biology, Rennes university hospital, Rennes, France., Landais E; Department of Genetics, Reims University Hospital, Reims, France., Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63531. Date of Electronic Publication: 2024 Feb 29.

ePS01.5 Update of CFTR mutation spectrum in cystic fibrosis patients from Peru

Autor: Audrézet, M.-P., Diringer, B., Le Millier, K., Kervennic, M.N., Aquino Ordinola, R., Purizaga Izquierdo, N., Férec, C.

Publikováno v: In Journal of Cystic Fibrosis June 2015 14 Supplement 1:S43-S43