A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.
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| Title: | A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review. |
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| Authors: | Stagi S; Endocrine Paediatric Unit, Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, Viale Pieraccini 24, 50139, Florence, Italy. stefano.stagi@yahoo.it., Lapi E; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. elisabetta.lapi@meyer.it., Pantaleo M; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. marilena.pantaleo@meyer.it., Carella M; Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy. m.carella@operapadrepio.it., Petracca A; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. antonio.petracca@meyer.it., De Crescenzo A; Department of Environmental Science, Second University of Naples, Caserta, Italy. agostina.decrescenzo@unina2.it., Zelante L; Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy. zelante@operapadrepio.it., Riccio A; Department of Environmental Science, Second University of Naples, Caserta, Italy. andrea.riccio@unina2.it., de Martino M; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. maurizio.demartino@unifi.it. |
| Source: | BMC medical genetics [BMC Med Genet] 2015 Aug 23; Vol. 16, pp. 69. Date of Electronic Publication: 2015 Aug 23. |
| Publication Type: | Case Reports; Journal Article; Review |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 26297663 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Stagi+S%22">Stagi S</searchLink>; Endocrine Paediatric Unit, Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, Viale Pieraccini 24, 50139, Florence, Italy. stefano.stagi@yahoo.it.<br /><searchLink fieldCode="AU" term="%22Lapi+E%22">Lapi E</searchLink>; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. elisabetta.lapi@meyer.it.<br /><searchLink fieldCode="AU" term="%22Pantaleo+M%22">Pantaleo M</searchLink>; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. marilena.pantaleo@meyer.it.<br /><searchLink fieldCode="AU" term="%22Carella+M%22">Carella M</searchLink>; Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy. m.carella@operapadrepio.it.<br /><searchLink fieldCode="AU" term="%22Petracca+A%22">Petracca A</searchLink>; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. antonio.petracca@meyer.it.<br /><searchLink fieldCode="AU" term="%22De+Crescenzo+A%22">De Crescenzo A</searchLink>; Department of Environmental Science, Second University of Naples, Caserta, Italy. agostina.decrescenzo@unina2.it.<br /><searchLink fieldCode="AU" term="%22Zelante+L%22">Zelante L</searchLink>; Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy. zelante@operapadrepio.it.<br /><searchLink fieldCode="AU" term="%22Riccio+A%22">Riccio A</searchLink>; Department of Environmental Science, Second University of Naples, Caserta, Italy. andrea.riccio@unina2.it.<br /><searchLink fieldCode="AU" term="%22de+Martino+M%22">de Martino M</searchLink>; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy. maurizio.demartino@unifi.it. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22100968552%22">BMC medical genetics</searchLink> [BMC Med Genet] 2015 Aug 23; Vol. 16, pp. 69. <i>Date of Electronic Publication: </i>2015 Aug 23. – 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="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>100968552 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1471-2350 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214712350%22">14712350 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=26297663 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12881-015-0212-z Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 69 Titles: – TitleFull: A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Stagi S – PersonEntity: Name: NameFull: Lapi E – PersonEntity: Name: NameFull: Pantaleo M – PersonEntity: Name: NameFull: Carella M – PersonEntity: Name: NameFull: Petracca A – PersonEntity: Name: NameFull: De Crescenzo A – PersonEntity: Name: NameFull: Zelante L – PersonEntity: Name: NameFull: Riccio A – PersonEntity: Name: NameFull: de Martino M IsPartOfRelationships: – BibEntity: Dates: – D: 23 M: 08 Text: 2015 Aug 23 Type: published Y: 2015 Identifiers: – Type: issn-electronic Value: 1471-2350 Numbering: – Type: volume Value: 16 Titles: – TitleFull: BMC medical genetics Type: main |
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