Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort.
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| Title: | Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort. |
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| Authors: | Jirova B; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia., Najdekova M; Department of Paediatrics, Faculty of Medicine, University of Ostrava and University Hospital, Ostrava, Czechia., Cerna J; Department of Paediatrics, Faculty of Medicine, University of Ostrava and University Hospital, Ostrava, Czechia., Dusatkova P; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia. petra.dusatkova@lfmotol.cuni.cz.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia. petra.dusatkova@lfmotol.cuni.cz., Holotova K; Department of Paediatrics, Faculty of Medicine, Palacky University and University Hospital, Olomouc, Czechia., Kolouskova S; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia., Kotvalova I; Department of Paediatrics, Hradec Kralove, Faculty of Medicine, Charles University and University Hospital, Hradec Kralove, Czechia., Magnova O; Department of Paediatrics, Faculty of Medicine, Masaryk University and University Hospital, Brno, Czechia., Modrak M; Department of Bioinformatics, 2nd Faculty of Medicine, Charles University, Prague, Czechia., Novotna D; Department of Paediatrics, Faculty of Medicine, Masaryk University and University Hospital, Brno, Czechia., Obermannova B; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia., Pavlicek J; Department of Paediatrics, Faculty of Medicine, University of Ostrava and University Hospital, Ostrava, Czechia., Plachy L; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia., Pomahacova R; Department of Paediatrics, Plzen, Faculty of Medicine, Charles University and University Hospital, Plzen, Czechia., Pruhova S; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia., Rezabkova J; Department of Bioinformatics, 2nd Faculty of Medicine, Charles University, Prague, Czechia., Strnadel J; Department of Paediatrics, Faculty of Medicine, University of Ostrava and University Hospital, Ostrava, Czechia., Snajderova M; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia., Sumnik Z; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia., Zapletalova J; Department of Paediatrics, Faculty of Medicine, Palacky University and University Hospital, Olomouc, Czechia., Lebl J; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia. |
| Source: | European journal of pediatrics [Eur J Pediatr] 2026 Jan 24; Vol. 185 (2), pp. 102. Date of Electronic Publication: 2026 Jan 24. |
| Publication Type: | Journal Article; Multicenter Study |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41577878 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Jirova+B%22">Jirova B</searchLink>; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Najdekova+M%22">Najdekova M</searchLink>; Department of Paediatrics, Faculty of Medicine, University of Ostrava and University Hospital, Ostrava, Czechia.<br /><searchLink fieldCode="AU" term="%22Cerna+J%22">Cerna J</searchLink>; Department of Paediatrics, Faculty of Medicine, University of Ostrava and University Hospital, Ostrava, Czechia.<br /><searchLink fieldCode="AU" term="%22Dusatkova+P%22">Dusatkova P</searchLink>; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia. petra.dusatkova@lfmotol.cuni.cz.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia. petra.dusatkova@lfmotol.cuni.cz.<br /><searchLink fieldCode="AU" term="%22Holotova+K%22">Holotova K</searchLink>; Department of Paediatrics, Faculty of Medicine, Palacky University and University Hospital, Olomouc, Czechia.<br /><searchLink fieldCode="AU" term="%22Kolouskova+S%22">Kolouskova S</searchLink>; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Kotvalova+I%22">Kotvalova I</searchLink>; Department of Paediatrics, Hradec Kralove, Faculty of Medicine, Charles University and University Hospital, Hradec Kralove, Czechia.<br /><searchLink fieldCode="AU" term="%22Magnova+O%22">Magnova O</searchLink>; Department of Paediatrics, Faculty of Medicine, Masaryk University and University Hospital, Brno, Czechia.<br /><searchLink fieldCode="AU" term="%22Modrak+M%22">Modrak M</searchLink>; Department of Bioinformatics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Novotna+D%22">Novotna D</searchLink>; Department of Paediatrics, Faculty of Medicine, Masaryk University and University Hospital, Brno, Czechia.<br /><searchLink fieldCode="AU" term="%22Obermannova+B%22">Obermannova B</searchLink>; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Pavlicek+J%22">Pavlicek J</searchLink>; Department of Paediatrics, Faculty of Medicine, University of Ostrava and University Hospital, Ostrava, Czechia.<br /><searchLink fieldCode="AU" term="%22Plachy+L%22">Plachy L</searchLink>; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Pomahacova+R%22">Pomahacova R</searchLink>; Department of Paediatrics, Plzen, Faculty of Medicine, Charles University and University Hospital, Plzen, Czechia.<br /><searchLink fieldCode="AU" term="%22Pruhova+S%22">Pruhova S</searchLink>; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Rezabkova+J%22">Rezabkova J</searchLink>; Department of Bioinformatics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Strnadel+J%22">Strnadel J</searchLink>; Department of Paediatrics, Faculty of Medicine, University of Ostrava and University Hospital, Ostrava, Czechia.<br /><searchLink fieldCode="AU" term="%22Snajderova+M%22">Snajderova M</searchLink>; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Sumnik+Z%22">Sumnik Z</searchLink>; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia.; Department of Paediatrics, Motol and Homolka University Hospital, Prague, Czechia.<br /><searchLink fieldCode="AU" term="%22Zapletalova+J%22">Zapletalova J</searchLink>; Department of Paediatrics, Faculty of Medicine, Palacky University and University Hospital, Olomouc, Czechia.<br /><searchLink fieldCode="AU" term="%22Lebl+J%22">Lebl J</searchLink>; Department of Paediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czechia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227603873%22">European journal of pediatrics</searchLink> [Eur J Pediatr] 2026 Jan 24; Vol. 185 (2), pp. 102. <i>Date of Electronic Publication: </i>2026 Jan 24. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Multicenter Study – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7603873 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1076 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406199%22">03406199 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Pediatr <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41577878 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00431-026-06764-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 102 Titles: – TitleFull: Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Jirova B – PersonEntity: Name: NameFull: Najdekova M – PersonEntity: Name: NameFull: Cerna J – PersonEntity: Name: NameFull: Dusatkova P – PersonEntity: Name: NameFull: Holotova K – PersonEntity: Name: NameFull: Kolouskova S – PersonEntity: Name: NameFull: Kotvalova I – PersonEntity: Name: NameFull: Magnova O – PersonEntity: Name: NameFull: Modrak M – PersonEntity: Name: NameFull: Novotna D – PersonEntity: Name: NameFull: Obermannova B – PersonEntity: Name: NameFull: Pavlicek J – PersonEntity: Name: NameFull: Plachy L – PersonEntity: Name: NameFull: Pomahacova R – PersonEntity: Name: NameFull: Pruhova S – PersonEntity: Name: NameFull: Rezabkova J – PersonEntity: Name: NameFull: Strnadel J – PersonEntity: Name: NameFull: Snajderova M – PersonEntity: Name: NameFull: Sumnik Z – PersonEntity: Name: NameFull: Zapletalova J – PersonEntity: Name: NameFull: Lebl J IsPartOfRelationships: – BibEntity: Dates: – D: 24 M: 01 Text: 2026 Jan 24 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1432-1076 Numbering: – Type: volume Value: 185 – Type: issue Value: 2 Titles: – TitleFull: European journal of pediatrics Type: main |
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