Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
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| Title: | Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. |
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| Authors: | Jouret G; Department of Genetics, Reims University Hospital, Reims, France.; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg., Egloff M; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France., Landais E; Department of Genetics, Reims University Hospital, Reims, France., Tassy O; IGBMC, Strasbourg, France., Giuliano F; Department of Genetics, Nice University Hospital, Nice, France., Karmous-Benailly H; Department of Genetics, Nice University Hospital, Nice, France., Coutton C; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France., Satre V; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France., Devillard F; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France., Dieterich K; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France., Vieville G; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France., Kuentz P; Génétique Biologique, PCBio, Besançon University Hospital, Besançon, France., le Caignec C; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; Department of Genetics, Nantes University Hospital, Nantes, France., Beneteau C; Department of Genetics, Nantes University Hospital, Nantes, France., Isidor B; Department of Genetics, Nantes University Hospital, Nantes, France., Nizon M; Department of Genetics, Nantes University Hospital, Nantes, France., Callier P; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; Department of Genetics, Dijon University Hospital, Dijon, France., Marquet V; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; Department of Genetics, Limoges University Hospital, Limoges, France., Bieth E; Department of Genetics, Toulouse University Hospital, Toulouse, France., Lévy J; Department of Genetics, Robert-Debré University Hospital, Paris, France., Tabet AC; Department of Genetics, Robert-Debré University Hospital, Paris, France., Lyonnet S; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.; INSERM U-1163, Université de Paris, Paris, France., Baujat G; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France., Rio M; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France., Cartault F; Department of Genetics, La Réunion University Hospital, Saint Denis, France., Scheidecker S; Strasbourg University Hospital, Strasbourg, France., Gouronc A; Strasbourg University Hospital, Strasbourg, France., Schalk A; Strasbourg University Hospital, Strasbourg, France., Jacquin C; Department of Genetics, Reims University Hospital, Reims, France., Spodenkiewicz M; Department of Genetics, Reims University Hospital, Reims, France., Angélini C; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France., Pennamen P; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France., Rooryck C; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France., Doco-Fenzy M; Department of Genetics, Reims University Hospital, Reims, France.; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; EA3801, SFR CAPSANTE, Reims, France., Poirsier C; Department of Genetics, Reims University Hospital, Reims, France. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 52-63. Date of Electronic Publication: 2022 Oct 05. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36196855 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Jouret+G%22">Jouret G</searchLink>; Department of Genetics, Reims University Hospital, Reims, France.; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg.<br /><searchLink fieldCode="AU" term="%22Egloff+M%22">Egloff M</searchLink>; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Landais+E%22">Landais E</searchLink>; Department of Genetics, Reims University Hospital, Reims, France.<br /><searchLink fieldCode="AU" term="%22Tassy+O%22">Tassy O</searchLink>; IGBMC, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Giuliano+F%22">Giuliano F</searchLink>; Department of Genetics, Nice University Hospital, Nice, France.<br /><searchLink fieldCode="AU" term="%22Karmous-Benailly+H%22">Karmous-Benailly H</searchLink>; Department of Genetics, Nice University Hospital, Nice, France.<br /><searchLink fieldCode="AU" term="%22Coutton+C%22">Coutton C</searchLink>; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.<br /><searchLink fieldCode="AU" term="%22Satre+V%22">Satre V</searchLink>; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.<br /><searchLink fieldCode="AU" term="%22Devillard+F%22">Devillard F</searchLink>; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.<br /><searchLink fieldCode="AU" term="%22Dieterich+K%22">Dieterich K</searchLink>; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.<br /><searchLink fieldCode="AU" term="%22Vieville+G%22">Vieville G</searchLink>; Service de Génétique et Procréation, Hôpital Couple-Enfant, CHU Grenoble Alpes, Université Grenoble-Alpes, La Tronche, France.<br /><searchLink fieldCode="AU" term="%22Kuentz+P%22">Kuentz P</searchLink>; Génétique Biologique, PCBio, Besançon University Hospital, Besançon, France.<br /><searchLink fieldCode="AU" term="%22le+Caignec+C%22">le Caignec C</searchLink>; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; Department of Genetics, Nantes University Hospital, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Beneteau+C%22">Beneteau C</searchLink>; Department of Genetics, Nantes University Hospital, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Department of Genetics, Nantes University Hospital, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Department of Genetics, Nantes University Hospital, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Callier+P%22">Callier P</searchLink>; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; Department of Genetics, Dijon University Hospital, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Marquet+V%22">Marquet V</searchLink>; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; Department of Genetics, Limoges University Hospital, Limoges, France.<br /><searchLink fieldCode="AU" term="%22Bieth+E%22">Bieth E</searchLink>; Department of Genetics, Toulouse University Hospital, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Lévy+J%22">Lévy J</searchLink>; Department of Genetics, Robert-Debré University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Tabet+AC%22">Tabet AC</searchLink>; Department of Genetics, Robert-Debré University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lyonnet+S%22">Lyonnet S</searchLink>; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.; INSERM U-1163, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Baujat+G%22">Baujat G</searchLink>; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rio+M%22">Rio M</searchLink>; Department of Genetics, Necker-Enfants malades, AP-HP, Institut Imagine, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cartault+F%22">Cartault F</searchLink>; Department of Genetics, La Réunion University Hospital, Saint Denis, France.<br /><searchLink fieldCode="AU" term="%22Scheidecker+S%22">Scheidecker S</searchLink>; Strasbourg University Hospital, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Gouronc+A%22">Gouronc A</searchLink>; Strasbourg University Hospital, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Schalk+A%22">Schalk A</searchLink>; Strasbourg University Hospital, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Jacquin+C%22">Jacquin C</searchLink>; Department of Genetics, Reims University Hospital, Reims, France.<br /><searchLink fieldCode="AU" term="%22Spodenkiewicz+M%22">Spodenkiewicz M</searchLink>; Department of Genetics, Reims University Hospital, Reims, France.<br /><searchLink fieldCode="AU" term="%22Angélini+C%22">Angélini C</searchLink>; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Pennamen+P%22">Pennamen P</searchLink>; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Rooryck+C%22">Rooryck C</searchLink>; CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Doco-Fenzy+M%22">Doco-Fenzy M</searchLink>; Department of Genetics, Reims University Hospital, Reims, France.; ACLF (Association des Cytogénéticiens de Langue Française, French Society of Cytogenetics) Member, Grenoble cedex, France.; EA3801, SFR CAPSANTE, Reims, France.<br /><searchLink fieldCode="AU" term="%22Poirsier+C%22">Poirsier C</searchLink>; Department of Genetics, Reims University Hospital, Reims, France. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 52-63. <i>Date of Electronic Publication: </i>2022 Oct 05. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
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