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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

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Title: Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Authors: Perea-Romero I; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Solarat C; CINBIO, Universidade de Vigo, Vigo, Spain.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain., Blanco-Kelly F; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Sanchez-Navarro I; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Bea-Mascato B; CINBIO, Universidade de Vigo, Vigo, Spain.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain., Martin-Salazar E; CINBIO, Universidade de Vigo, Vigo, Spain.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain., Lorda-Sanchez I; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Swafiri ST; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Avila-Fernandez A; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Martin-Merida I; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Trujillo-Tiebas MJ; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Carreño E; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain., Jimenez-Rolando B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain., Garcia-Sandoval B; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain., Minguez P; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Corton M; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Valverde D; CINBIO, Universidade de Vigo, Vigo, Spain. dianaval@uvigo.es.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain. dianaval@uvigo.es., Ayuso C; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain. cayuso@fjd.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. cayuso@fjd.es.
Source: NPJ genomic medicine [NPJ Genom Med] 2022 Jul 14; Vol. 7 (1), pp. 41. Date of Electronic Publication: 2022 Jul 14.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Perea-Romero+I%22">Perea-Romero I</searchLink>; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Solarat+C%22">Solarat C</searchLink>; CINBIO, Universidade de Vigo, Vigo, Spain.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain.<br /><searchLink fieldCode="AU" term="%22Blanco-Kelly+F%22">Blanco-Kelly F</searchLink>; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Sanchez-Navarro+I%22">Sanchez-Navarro I</searchLink>; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Bea-Mascato+B%22">Bea-Mascato B</searchLink>; CINBIO, Universidade de Vigo, Vigo, Spain.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain.<br /><searchLink fieldCode="AU" term="%22Martin-Salazar+E%22">Martin-Salazar E</searchLink>; CINBIO, Universidade de Vigo, Vigo, Spain.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain.<br /><searchLink fieldCode="AU" term="%22Lorda-Sanchez+I%22">Lorda-Sanchez I</searchLink>; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Swafiri+ST%22">Swafiri ST</searchLink>; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Avila-Fernandez+A%22">Avila-Fernandez A</searchLink>; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Martin-Merida+I%22">Martin-Merida I</searchLink>; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Trujillo-Tiebas+MJ%22">Trujillo-Tiebas MJ</searchLink>; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Carreño+E%22">Carreño E</searchLink>; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Jimenez-Rolando+B%22">Jimenez-Rolando B</searchLink>; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Garcia-Sandoval+B%22">Garcia-Sandoval B</searchLink>; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Minguez+P%22">Minguez P</searchLink>; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Corton+M%22">Corton M</searchLink>; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Valverde+D%22">Valverde D</searchLink>; CINBIO, Universidade de Vigo, Vigo, Spain. dianaval@uvigo.es.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain. dianaval@uvigo.es.<br /><searchLink fieldCode="AU" term="%22Ayuso+C%22">Ayuso C</searchLink>; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain. cayuso@fjd.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. cayuso@fjd.es.
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