Zobrazeno 1 - 10 of 515 pro vyhledávání: '"Vijzelaar, R."'
1
Editorial & Opinion
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
Autor: Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl., den Ouden A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Genderen MM; Bartiméus Diagnostic Center for complex visual disorders, Zeist, the Netherlands.; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, the Netherlands., Lugtenberg D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Verheij J; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Vijzelaar R; MRC Holland b v, Amsterdam, the Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2024 May 04; Vol. 9 (1), pp. 29. Date of Electronic Publication: 2024 May 04.
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2
Akademický článek
Lethal Capecitabine Toxicity in Patients With Complete Dihydropyrimidine Dehydrogenase Deficiency Due to Ultra-Rare DPYD Variants.
Autor: van Kuilenburg ABP; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Pleunis-van Empel MCH; Medisch Spectrum Twente, Department of Oncology, Enschede, the Netherlands., Brouwer RB; Department of Clinical Chemistry and Laboratory Medicine, Medisch Spectrum Twente, Medlon BV, Enschede, the Netherlands., Sijben AEJ; Department of Neurology, Medisch Spectrum Twente, Enschede, the Netherlands., Knapen DG; Department of Medical Oncology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Oude Munnink TH; Department of Clinical Pharmacy and Pharmacology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., van Zanden JJ; Martini Hospital Groningen, Certe Department of Clinical Chemistry, the Netherlands., Janssens-Puister J; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Dobritzsch D; Department of Chemistry, Uppsala University, Biomedical Center, Uppsala, Sweden., Meinsma R; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Meijer-Jansen J; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., van Dooren SJM; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Vijzelaar R; MRC-Holland bv, Amsterdam, the Netherlands., Pop A; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Salomons GS; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands., Maring JG; Departments of Clinical Pharmacy and Medical Oncology, Isala, Zwolle, the Netherlands., Niezen-Koning KE; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Publikováno v: JCO precision oncology [JCO Precis Oncol] 2024 May; Vol. 8, pp. e2300599.
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3
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
Autor: Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell-Sampol L, Catala J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S
Publikováno v: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor function an
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::9ee8ad8d9dd1a703edd77c3f09a8e49d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21760
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4
Akademický článek
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
Autor: Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl., den Ouden A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Genderen MM; Bartiméus Diagnostic Center for complex visual disorders, Zeist, The Netherlands.; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, The Netherlands., Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Verheij J; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Smailhodzic D; Bartiméus Diagnostic Center for complex visual disorders, Zeist, The Netherlands.; The Rotterdam Eye Hospital, Rotterdam, 3011 BH, The Netherlands., Hoekstra AS; MRC Holland b v, Amsterdam, The Netherlands., Vijzelaar R; MRC Holland b v, Amsterdam, The Netherlands., Blom J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Tjon-Pon-Fong M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Nelen MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Lugtenberg D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v: NPJ genomic medicine [NPJ Genom Med] 2022 Nov 09; Vol. 7 (1), pp. 65. Date of Electronic Publication: 2022 Nov 09.
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5
Akademický článek
SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis.
Autor: Bos JW; Department of Neurology and Neurosurgery (J.W.B., E.J.N.G., R.I.W., C.A.D.C., W.L.v.d.P., L.H.v.d.B.), UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands; and MRC Holland (N.N.M., M.Z., P.W.J.v.V., R.S., R.V.), Amsterdam, the Netherlands., Groen EJN; Department of Neurology and Neurosurgery (J.W.B., E.J.N.G., R.I.W., C.A.D.C., W.L.v.d.P., L.H.v.d.B.), UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands; and MRC Holland (N.N.M., M.Z., P.W.J.v.V., R.S., R.V.), Amsterdam, the Netherlands., Wadman RI; Department of Neurology and Neurosurgery (J.W.B., E.J.N.G., R.I.W., C.A.D.C., W.L.v.d.P., L.H.v.d.B.), UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands; and MRC Holland (N.N.M., M.Z., P.W.J.v.V., R.S., R.V.), Amsterdam, the Netherlands., Curial CAD; Department of Neurology and Neurosurgery (J.W.B., E.J.N.G., R.I.W., C.A.D.C., W.L.v.d.P., L.H.v.d.B.), UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands; and MRC Holland (N.N.M., M.Z., P.W.J.v.V., R.S., R.V.), Amsterdam, the Netherlands., Molleman NN; Department of Neurology and Neurosurgery (J.W.B., E.J.N.G., R.I.W., C.A.D.C., W.L.v.d.P., L.H.v.d.B.), UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands; and MRC Holland (N.N.M., M.Z., P.W.J.v.V., R.S., R.V.), Amsterdam, the Netherlands., Zegers M; Department of Neurology and Neurosurgery (J.W.B., E.J.N.G., R.I.W., C.A.D.C., W.L.v.d.P., L.H.v.d.B.), UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands; and MRC Holland (N.N.M., M.Z., P.W.J.v.V., R.S., R.V.), Amsterdam, the Netherlands., van Vught PWJ; Department of Neurology and Neurosurgery (J.W.B., E.J.N.G., R.I.W., C.A.D.C., W.L.v.d.P., L.H.v.d.B.), UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands; and MRC Holland (N.N.M., M.Z., P.W.J.v.V., R.S., R.V.), Amsterdam, the Netherlands., Snetselaar R; Department of Neurology and Neurosurgery (J.W.B., E.J.N.G., R.I.W., C.A.D.C., W.L.v.d.P., L.H.v.d.B.), UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands; and MRC Holland (N.N.M., M.Z., P.W.J.v.V., R.S., R.V.), Amsterdam, the Netherlands., Vijzelaar R; Department of Neurology and Neurosurgery (J.W.B., E.J.N.G., R.I.W., C.A.D.C., W.L.v.d.P., L.H.v.d.B.), UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands; and MRC Holland (N.N.M., M.Z., P.W.J.v.V., R.S., R.V.), Amsterdam, the Netherlands., van der Pol WL; Department of Neurology and Neurosurgery (J.W.B., E.J.N.G., R.I.W., C.A.D.C., W.L.v.d.P., L.H.v.d.B.), UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands; and MRC Holland (N.N.M., M.Z., P.W.J.v.V., R.S., R.V.), Amsterdam, the Netherlands., van den Berg LH; Department of Neurology and Neurosurgery (J.W.B., E.J.N.G., R.I.W., C.A.D.C., W.L.v.d.P., L.H.v.d.B.), UMC Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands; and MRC Holland (N.N.M., M.Z., P.W.J.v.V., R.S., R.V.), Amsterdam, the Netherlands.
Publikováno v: Neurology. Genetics [Neurol Genet] 2021 Jun 22; Vol. 7 (4), pp. e598. Date of Electronic Publication: 2021 Jun 22 (Print Publication: 2021).
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6
Akademický článek
Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population.
Autor: Saarenheimo J; Department of Pathology, Vasa Central Hospital, Hietalahdenkatu 2-4, 65130, Vaasa, Finland. jatta.saarenheimo@vshp.fi., Wahid N; Department of Oncology, Vasa Central Hospital, Vaasa, Finland., Eigeliene N; Department of Oncology, Vasa Central Hospital, Vaasa, Finland.; Department of Oncology and Radiotherapy, University of Turku, Turku, Finland., Ravi R; Department of Oncology, Vasa Central Hospital, Vaasa, Finland., Salomons GS; Metabolic Unit, Department of Clinical Chemistry& Laboratory Genetic Metabolic Diseases & Department of Paediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Ojeda MF; Metabolic Unit, Department of Clinical Chemistry& Laboratory Genetic Metabolic Diseases & Department of Paediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam Neuroscience, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Vijzelaar R; MRC Holland Bv, Amsterdam, The Netherlands., Jekunen A; Department of Oncology, Vasa Central Hospital, Vaasa, Finland.; Department of Oncology and Radiotherapy, University of Turku, Turku, Finland., van Kuilenburg ABP; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.
Publikováno v: Cancer chemotherapy and pharmacology [Cancer Chemother Pharmacol] 2021 May; Vol. 87 (5), pp. 657-663. Date of Electronic Publication: 2021 Feb 05.
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7
Akademický článek
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Autor: Wadman RI; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Jansen MD; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Stam M; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Wijngaarde CA; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Curial CAD; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Medic J; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Sodaar P; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Schouten J; MRC Holland BV, 1057 DL Amsterdam, the Netherlands., Vijzelaar R; MRC Holland BV, 1057 DL Amsterdam, the Netherlands., Lemmink HH; Department of Genetics, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands., van den Berg LH; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., Groen EJN; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands., van der Pol WL; UMC Utrecht Brain Center, Department of Neurology and Neurosurgery, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands.
Publikováno v: Brain communications [Brain Commun] 2020 Jun 08; Vol. 2 (2), pp. fcaa075. Date of Electronic Publication: 2020 Jun 08 (Print Publication: 2020).
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8
Deletions within COL11A1 in Type 2 Stickler Syndrome Detected by Multiplex Ligation - Syndrome Detected by Multiplex Ligation Dependent Probe Amplification (MLPA)
Autor: Vijzelaar, R, Waller, S, Errami, A, Donaldson, A, Lourenço, T, Rodrigues, M, McConnell, V, Fincham, G, Snead, M, Richards, A
Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Background: COL11A1 is a large complex gene around 250 kb in length and consisting of 68 exons. Pathogenic mutations in the gene can result in Stickler syndrome, Marshall syndrome or Fibrochondrogenesis. Many of the mutations resulting in either Stic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f0d615e055f78037dd2575436f5a1a8c
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9
Akademický článek
Non-classical animal models for studying adrenal diseases: advantages, limitations, and implications for research.
Autor: Bilyalova, Alina1 (AUTHOR), Bilyalov, Airat1,2 (AUTHOR), Filatov, Nikita1 (AUTHOR), Shagimardanova, Elena2,3 (AUTHOR), Kiyasov, Andrey1 (AUTHOR), Vorontsova, Maria4 (AUTHOR), Gusev, Oleg3,5,6 (AUTHOR) o.gusev.fo@juntendo.ac.jp
Publikováno v: Laboratory Animal Research. 6/19/2024, Vol. 40 Issue 1, p1-11. 11p.
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10
Akademický článek
The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.
Autor: Vijzelaar R; MRC Holland B.V., Amsterdam, The Netherlands., Snetselaar R; MRC Holland B.V., Amsterdam, The Netherlands., Clausen M; MRC Holland B.V., Amsterdam, The Netherlands., Mason AG; MRC Holland B.V., Amsterdam, The Netherlands., Rinsma M; MRC Holland B.V., Amsterdam, The Netherlands., Zegers M; MRC Holland B.V., Amsterdam, The Netherlands., Molleman N; MRC Holland B.V., Amsterdam, The Netherlands., Boschloo R; MRC Holland B.V., Amsterdam, The Netherlands., Yilmaz R; MRC Holland B.V., Amsterdam, The Netherlands., Kuilboer R; MRC Holland B.V., Amsterdam, The Netherlands., Lens S; MRC Holland B.V., Amsterdam, The Netherlands., Sulchan S; MRC Holland B.V., Amsterdam, The Netherlands., Schouten J; MRC Holland B.V., Amsterdam, The Netherlands.
Publikováno v: PloS one [PLoS One] 2019 Jul 24; Vol. 14 (7), pp. e0220211. Date of Electronic Publication: 2019 Jul 24 (Print Publication: 2019).
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