Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
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| Title: | Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation. |
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| Authors: | Baz-Redón N; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Antolín M; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Clemente M; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Campos A; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Mogas E; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Fernández-Cancio M; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Zafon E; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., García-Arumí E; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Soler L; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., González-Llorens N; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Aguilar-Riera C; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Camats-Tarruella N; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Yeste D; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain. |
| Source: | International journal of molecular sciences [Int J Mol Sci] 2024 Aug 03; Vol. 25 (15). Date of Electronic Publication: 2024 Aug 03. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39126042 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Baz-Redón+N%22">Baz-Redón N</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Antolín+M%22">Antolín M</searchLink>; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Clemente+M%22">Clemente M</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.<br /><searchLink fieldCode="AU" term="%22Campos+A%22">Campos A</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.<br /><searchLink fieldCode="AU" term="%22Mogas+E%22">Mogas E</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Cancio+M%22">Fernández-Cancio M</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Zafon+E%22">Zafon E</searchLink>; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22García-Arumí+E%22">García-Arumí E</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Soler+L%22">Soler L</searchLink>; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22González-Llorens+N%22">González-Llorens N</searchLink>; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Aguilar-Riera+C%22">Aguilar-Riera C</searchLink>; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Camats-Tarruella+N%22">Camats-Tarruella N</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Yeste+D%22">Yeste D</searchLink>; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2024 Aug 03; Vol. 25 (15). <i>Date of Electronic Publication: </i>2024 Aug 03. – 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="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101092791 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1422-0067 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214220067%22">14220067 </searchLink><i>NLM ISO Abbreviation: </i>Int J Mol Sci <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39126042 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/ijms25158473 Languages: – Code: eng Text: English Titles: – TitleFull: Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Baz-Redón N – PersonEntity: Name: NameFull: Antolín M – PersonEntity: Name: NameFull: Clemente M – PersonEntity: Name: NameFull: Campos A – PersonEntity: Name: NameFull: Mogas E – PersonEntity: Name: NameFull: Fernández-Cancio M – PersonEntity: Name: NameFull: Zafon E – PersonEntity: Name: NameFull: García-Arumí E – PersonEntity: Name: NameFull: Soler L – PersonEntity: Name: NameFull: González-Llorens N – PersonEntity: Name: NameFull: Aguilar-Riera C – PersonEntity: Name: NameFull: Camats-Tarruella N – PersonEntity: Name: NameFull: Yeste D IsPartOfRelationships: – BibEntity: Dates: – D: 03 M: 08 Text: 2024 Aug 03 Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1422-0067 Numbering: – Type: volume Value: 25 – Type: issue Value: 15 Titles: – TitleFull: International journal of molecular sciences Type: main |
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