High rate of autonomic neuropathy in Cornelia de Lange Syndrome.
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| Title: | High rate of autonomic neuropathy in Cornelia de Lange Syndrome. |
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| Authors: | Pablo MJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, San Jorge University Hospital, Huesca, Spain., Pamplona P; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, Miguel Servet University Hospital, Zaragoza, Spain., Haddad M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, Miguel Servet University Hospital, Zaragoza, Spain., Benavente I; Unit of Neurophysiology, San Jorge University Hospital, Huesca, Spain., Latorre-Pellicer A; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Arnedo M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Trujillano L; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Bueno-Lozano G; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', Growth, Exercise, Nutrition and Development (GENUD) Research Group, Zaragoza, Spain., Kerr LM; Division of Pediatric Neurology, Department of Paediatrics, University of Utah Health, Salt Lake City, UT, USA., Huisman SA; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.; Prinsenstichting, Purmerend, The Netherlands., Kaiser FJ; Institute of Human Genetics, University Hospital Essen University of Duisburg-Essen, Essen, Germany., Ramos F; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Kline AD; Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA., Pie J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. juanpie@unizar.es., Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. puisac@unizar.es. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 30; Vol. 16 (1), pp. 458. Date of Electronic Publication: 2021 Oct 30. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 34717699 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: High rate of autonomic neuropathy in Cornelia de Lange Syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Pablo+MJ%22">Pablo MJ</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, San Jorge University Hospital, Huesca, Spain.<br /><searchLink fieldCode="AU" term="%22Pamplona+P%22">Pamplona P</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, Miguel Servet University Hospital, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Haddad+M%22">Haddad M</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Neurophysiology, Miguel Servet University Hospital, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Benavente+I%22">Benavente I</searchLink>; Unit of Neurophysiology, San Jorge University Hospital, Huesca, Spain.<br /><searchLink fieldCode="AU" term="%22Latorre-Pellicer+A%22">Latorre-Pellicer A</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Arnedo+M%22">Arnedo M</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Trujillano+L%22">Trujillano L</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Bueno-Lozano+G%22">Bueno-Lozano G</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', Growth, Exercise, Nutrition and Development (GENUD) Research Group, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Kerr+LM%22">Kerr LM</searchLink>; Division of Pediatric Neurology, Department of Paediatrics, University of Utah Health, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Huisman+SA%22">Huisman SA</searchLink>; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.; Prinsenstichting, Purmerend, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kaiser+FJ%22">Kaiser FJ</searchLink>; Institute of Human Genetics, University Hospital Essen University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Ramos+F%22">Ramos F</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Department of Pediatrics, Hospital Clinico Universitario 'Lozano Blesa', CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Kline+AD%22">Kline AD</searchLink>; Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Pie+J%22">Pie J</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. juanpie@unizar.es.<br /><searchLink fieldCode="AU" term="%22Puisac+B%22">Puisac B</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain. puisac@unizar.es. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2021 Oct 30; Vol. 16 (1), pp. 458. <i>Date of Electronic Publication: </i>2021 Oct 30. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – 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>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34717699 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-021-02082-y Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 458 Titles: – TitleFull: High rate of autonomic neuropathy in Cornelia de Lange Syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pablo MJ – PersonEntity: Name: NameFull: Pamplona P – PersonEntity: Name: NameFull: Haddad M – PersonEntity: Name: NameFull: Benavente I – PersonEntity: Name: NameFull: Latorre-Pellicer A – PersonEntity: Name: NameFull: Arnedo M – PersonEntity: Name: NameFull: Trujillano L – PersonEntity: Name: NameFull: Bueno-Lozano G – PersonEntity: Name: NameFull: Kerr LM – PersonEntity: Name: NameFull: Huisman SA – PersonEntity: Name: NameFull: Kaiser FJ – PersonEntity: Name: NameFull: Ramos F – PersonEntity: Name: NameFull: Kline AD – PersonEntity: Name: NameFull: Pie J – PersonEntity: Name: NameFull: Puisac B IsPartOfRelationships: – BibEntity: Dates: – D: 30 M: 10 Text: 2021 Oct 30 Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 16 – Type: issue Value: 1 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
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