11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| FullText | Links: – Type: pdflink Text: Availability: 1 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 30888095 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti 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. – Name: Author Label: Authors Group: Au 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. – 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] 2019 Jun; Vol. 179 (6), pp. 993-1000. <i>Date of Electronic Publication: </i>2019 Mar 19. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Review – 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 |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30888095 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.61113 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 993 Titles: – TitleFull: 11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Conrad S – PersonEntity: Name: NameFull: Demurger F – PersonEntity: Name: NameFull: Moradkhani K – PersonEntity: Name: NameFull: Pichon O – PersonEntity: Name: NameFull: Le Caignec C – PersonEntity: Name: NameFull: Pascal C – PersonEntity: Name: NameFull: Thomas C – PersonEntity: Name: NameFull: Bayart S – PersonEntity: Name: NameFull: Perlat A – PersonEntity: Name: NameFull: Dubourg C – PersonEntity: Name: NameFull: Jaillard S – PersonEntity: Name: NameFull: Nizon M IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2019 Jun Type: published Y: 2019 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 179 – Type: issue Value: 6 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
| ResultId | 1 |