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Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

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Title: Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Authors: Trujillano L; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Valenzuela I; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Costa-Roger M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Cuscó I; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Fernandez-Alvarez P; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Cueto-González A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Lasa-Aranzasti A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Masotto B; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Abulí A; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Codina-Solà M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Del Campo M; Department of Clinical Pediatrics, University of California, San Diego, California, USA., Ruiz Moreno JA; Department of Pediatrics, Hospital Costa del Sol, Marbella, Málaga, Spain., Pardo Domínguez C; Department of Pediatrics, Hospital Costa del Sol, Marbella, Málaga, Spain., Palma Milla C; Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain., Pérez de la Fuente R; Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain., Quesada-Espinosa JF; Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain., Núñez-Enamorado N; Departamento de Neurología pediátrica, Hospital Universitario 12 de Octubre, Madrid, Spain., Gener B; Department of Genetics, Cruces University Hospital, Biobizkaia Health Research Institute, Vizcaya, Spain., Ballesta-Martínez MJ; Sección Genética Médica, Servicio de Pediatría, Hospital Clinico Universitario Virgen de la Arrixaca, Murcia, Spain., Brea-Fernández AJ; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Fundación Pública Galega Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Santiago de Compostela, Spain., Fernández-Prieto M; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Fundación Pública Galega Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Santiago de Compostela, Spain., Trujillo-Quintero JP; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Ruiz A; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Santos-Simarro F; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, Idisba, Palma de Mallorca, Spain., Rosello M; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Orellana C; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Martinez F; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain., Martinez-Monseny AF; Department of Genetics and Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Casas-Alba D; Department of Genetics and Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., Serrano M; Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain., Palomares-Bralo M; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain., Rikeros-Orozco E; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain., Gómez-Cano MÁ; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain., Tirado-Requero P; Neuropediatric Unit, University Hospital La Paz, Madrid, Spain., Pié Juste J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., Ramos FJ; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Service of Paediatrics, University Hospital 'Lozano Blesa', University of Zaragoza Medical School, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain., García-Arumí E; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
Source: Clinical genetics [Clin Genet] 2025 Jun; Vol. 107 (6), pp. 646-662. Date of Electronic Publication: 2025 Jan 20.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Trujillano+L%22">Trujillano L</searchLink>; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Valenzuela+I%22">Valenzuela I</searchLink>; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Costa-Roger+M%22">Costa-Roger M</searchLink>; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Cuscó+I%22">Cuscó I</searchLink>; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Fernandez-Alvarez+P%22">Fernandez-Alvarez P</searchLink>; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Cueto-González+A%22">Cueto-González A</searchLink>; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Lasa-Aranzasti+A%22">Lasa-Aranzasti A</searchLink>; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Masotto+B%22">Masotto B</searchLink>; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Abulí+A%22">Abulí A</searchLink>; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Codina-Solà+M%22">Codina-Solà M</searchLink>; 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Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Quesada-Espinosa+JF%22">Quesada-Espinosa JF</searchLink>; Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain.; UDISGEN (Unidad de Dismorfología y Genética), Hospital Universitario 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Núñez-Enamorado+N%22">Núñez-Enamorado N</searchLink>; Departamento de Neurología pediátrica, Hospital Universitario 12 de Octubre, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Gener+B%22">Gener B</searchLink>; Department of Genetics, Cruces University Hospital, Biobizkaia Health Research Institute, Vizcaya, Spain.<br /><searchLink fieldCode="AU" term="%22Ballesta-Martínez+MJ%22">Ballesta-Martínez MJ</searchLink>; Sección Genética Médica, Servicio de Pediatría, Hospital Clinico Universitario Virgen de la Arrixaca, Murcia, Spain.<br /><searchLink fieldCode="AU" term="%22Brea-Fernández+AJ%22">Brea-Fernández AJ</searchLink>; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Fundación Pública Galega Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Fernández-Prieto+M%22">Fernández-Prieto M</searchLink>; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Fundación Pública Galega Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Santiago de Compostela, Spain.<br /><searchLink fieldCode="AU" term="%22Trujillo-Quintero+JP%22">Trujillo-Quintero JP</searchLink>; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.<br /><searchLink fieldCode="AU" term="%22Ruiz+A%22">Ruiz A</searchLink>; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.<br /><searchLink fieldCode="AU" term="%22Santos-Simarro+F%22">Santos-Simarro F</searchLink>; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, Idisba, Palma de Mallorca, Spain.<br /><searchLink fieldCode="AU" term="%22Rosello+M%22">Rosello M</searchLink>; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Orellana+C%22">Orellana C</searchLink>; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Martinez+F%22">Martinez F</searchLink>; Genetics Unit, Hospital Universitario y Politecnico La Fe, Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Martinez-Monseny+AF%22">Martinez-Monseny AF</searchLink>; Department of Genetics and Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Casas-Alba+D%22">Casas-Alba D</searchLink>; Department of Genetics and Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Serrano+M%22">Serrano M</searchLink>; Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Palomares-Bralo+M%22">Palomares-Bralo M</searchLink>; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Rikeros-Orozco+E%22">Rikeros-Orozco E</searchLink>; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Gómez-Cano+MÁ%22">Gómez-Cano MÁ</searchLink>; Clinical Genetics Section, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, CIBERER, Hospital Universitario La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Tirado-Requero+P%22">Tirado-Requero P</searchLink>; Neuropediatric Unit, University Hospital La Paz, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Pié+Juste+J%22">Pié Juste J</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22Ramos+FJ%22">Ramos FJ</searchLink>; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.; Unit of Clinical Genetics, Service of Paediatrics, University Hospital 'Lozano Blesa', University of Zaragoza Medical School, CIBERER-GCV02 and IIS-Aragon, Zaragoza, Spain.<br /><searchLink fieldCode="AU" term="%22García-Arumí+E%22">García-Arumí E</searchLink>; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Tizzano+EF%22">Tizzano EF</searchLink>; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
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