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A clinical trial comparing propofol versus propofol plus midazolam in diagnostic endoscopy of patients with a low anesthetic risk.

Autor: Julián Gómez L; Aparato Digestivo, Hospital Virgen de la Concha, España., Fuentes Coronel A; Aparato Digestivo, Hospital Virgen de la Concha (Zamora), España., López Ramos C; Aparato Digestivo, Hospital Virgen de la Concha., Ochoa Sangrador C; Unidad de Investigación, Hospital Virgen de la Concha., Fradejas Salazar P; Aparato Digestivo, Hospital Virgen de la Concha., Martín Garrido E; Aparato Digestivo, Hospital Virgen de la Concha., Conde Gacho P; Aparato Digestivo, Hospital Virgen de la Concha., Bailador Andrés C; Aparato Digestivo, Hospital Virgen de la Concha., García-Alvarado M; Aparato Digestivo, Hospital Virgen de la Concha., Rascarachi G; Aparato Digestivo, Hospital Virgen de la Concha., Castillo Trujillo R; Aparato Digestivo, Hospital Virgen de la Concha., Rodríguez Gómez SJ; Aparato Digestivo, Hospital Virgen de la Concha.

Publikováno v: Revista espanola de enfermedades digestivas [Rev Esp Enferm Dig] 2018 Nov; Vol. 110 (11), pp. 691-698.

Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver–McFarlane Syndromes.

Autor: Wawrocka, Anna¹ (AUTHOR) aniawawrocka@ump.edu.pl, Walczak-Sztulpa, Joanna¹ (AUTHOR) kuszel@ump.edu.pl, Kuszel, Lukasz¹ (AUTHOR) askorczyk@ump.edu.pl, Niedziela-Schwartz, Zuzanna² (AUTHOR) z.niedziela@gmail.com, Skorczyk-Werner, Anna¹ (AUTHOR) mrkrawcz@ump.edu.pl, Bernardczyk-Meller, Jadwiga³ (AUTHOR) jbmeller@poczta.onet.pl, Krawczynski, Maciej R.^1,4 (AUTHOR)

Publikováno v: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p5759. 12p.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Autor: Nishiguchi KM; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Avila-Fernandez A; Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain., van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Corton M; Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain., Pérez-Carro R; Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain., Martín-Garrido E; Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain., López-Molina MI; Department of Ophthalmology, Fundación Jiménez Díaz, Madrid, Spain., Blanco-Kelly F; Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain., Hoefsloot LH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Zelst-Stams WA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., García-Ruiz PJ; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain., Del Val J; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain., Di Gioia SA; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Klevering BJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands., van de Warrenburg BP; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Vazquez C; Department of Genetics, Insular-Materno Infantil University Hospital, Las Palmas de Gran Canaria, Spain., Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., García-Sandoval B; Department of Ophthalmology, Fundación Jiménez Díaz, Madrid, Spain., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Collin RW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Center, Nijmegen, The Netherlands; Nijmegen Center for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Rivolta C; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Ayuso C; Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain. Electronic address: cayuso@fjd.es.

Publikováno v: Ophthalmology [Ophthalmology] 2014 Aug; Vol. 121 (8), pp. 1620-7. Date of Electronic Publication: 2014 Mar 31.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Autor: Corton M; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Avila-Fernandez A; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Vallespín E; Instituto de Genética Médica y Molecular, IdiPaz, Hospital Universitario La Paz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., López-Molina MI; Department of Ophthalmology, Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Almoguera B; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Martín-Garrido E; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Tatu SD; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Khan MI; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Blanco-Kelly F; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Riveiro-Alvarez R; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Brión M; Genetics of Cardiovascular and Ophthalmologic Diseases, Instituto de Investigación Sanitaria de Santiago de Compostela, RIC, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., García-Sandoval B; Department of Ophthalmology, Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Cremers FPM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Carracedo A; Genomic Medicine Group-USC, Fundación Publica Galega de Medicina Xenómica, Santiago de Compostela, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain., Ayuso C; Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain. Electronic address: cayuso@fjd.es.

Publikováno v: Ophthalmology [Ophthalmology] 2014 Jan; Vol. 121 (1), pp. 399-407. Date of Electronic Publication: 2013 Oct 18.