11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.

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Title: 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Authors: Conrad S; Service de Génétique Médicale, CHU Nantes, France., Demurger F; Service de Génétique Médicale, CHBA Vannes, France., Moradkhani K; Service de Génétique Médicale, CHU Nantes, France., Pichon O; Service de Génétique Médicale, CHU Nantes, France., Le Caignec C; Service de Génétique Médicale, CHU Nantes, France.; INSERM, CNRS, UNIV Nantes, l'Institut du Thorax, Nantes, France., Pascal C; Service de Cardiologie pédiatrique et fœtale, Hôpital privé du Confluent, Nantes, France., Thomas C; Service d'Hémato-oncologie pédiatrique, CHU Nantes, France., Bayart S; Centre de traitement des maladies hémorragiques, CHU Rennes, France., Perlat A; Service de Médecine Interne-Immunologie Clinique, CHU de Rennes, France., Dubourg C; Service de Génétique Moléculaire et Génomique, CHU Rennes, France.; Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes), UMR 6290, Rennes, France., Jaillard S; CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France.; INSERM U1085-IRSET, Université de Rennes 1, Rennes, France., Nizon M; Service de Génétique Médicale, CHU Nantes, France.; INSERM, CNRS, UNIV Nantes, l'Institut du Thorax, Nantes, France.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jun; Vol. 179 (6), pp. 993-1000. Date of Electronic Publication: 2019 Mar 19.
Publication Type: Case Reports; Journal Article; Review
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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  Data: 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
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  Data: <searchLink fieldCode="AU" term="%22Conrad+S%22">Conrad S</searchLink>; Service de Génétique Médicale, CHU Nantes, France.<br /><searchLink fieldCode="AU" term="%22Demurger+F%22">Demurger F</searchLink>; Service de Génétique Médicale, CHBA Vannes, France.<br /><searchLink fieldCode="AU" term="%22Moradkhani+K%22">Moradkhani K</searchLink>; Service de Génétique Médicale, CHU Nantes, France.<br /><searchLink fieldCode="AU" term="%22Pichon+O%22">Pichon O</searchLink>; Service de Génétique Médicale, CHU Nantes, France.<br /><searchLink fieldCode="AU" term="%22Le+Caignec+C%22">Le Caignec C</searchLink>; Service de Génétique Médicale, CHU Nantes, France.; INSERM, CNRS, UNIV Nantes, l'Institut du Thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Pascal+C%22">Pascal C</searchLink>; Service de Cardiologie pédiatrique et fœtale, Hôpital privé du Confluent, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Thomas+C%22">Thomas C</searchLink>; Service d'Hémato-oncologie pédiatrique, CHU Nantes, France.<br /><searchLink fieldCode="AU" term="%22Bayart+S%22">Bayart S</searchLink>; Centre de traitement des maladies hémorragiques, CHU Rennes, France.<br /><searchLink fieldCode="AU" term="%22Perlat+A%22">Perlat A</searchLink>; Service de Médecine Interne-Immunologie Clinique, CHU de Rennes, France.<br /><searchLink fieldCode="AU" term="%22Dubourg+C%22">Dubourg C</searchLink>; Service de Génétique Moléculaire et Génomique, CHU Rennes, France.; Univ Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes), UMR 6290, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Jaillard+S%22">Jaillard S</searchLink>; CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France.; INSERM U1085-IRSET, Université de Rennes 1, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Service de Génétique Médicale, CHU Nantes, France.; INSERM, CNRS, UNIV Nantes, l'Institut du Thorax, Nantes, France.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2019 Jun; Vol. 179 (6), pp. 993-1000. <i>Date of Electronic Publication: </i>2019 Mar 19.
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