نتائج البحث - "Boon CJ"

المؤلفون: Islam T; Centre for Quantum Technologies, National University of Singapore, 3 Science Drive 2, Singapore, 117543, Singapore. cqtmti@nus.edu.sg., Banerji A; Centre for Quantum Technologies, National University of Singapore, 3 Science Drive 2, Singapore, 117543, Singapore., Boon CJ; Centre for Quantum Technologies, National University of Singapore, 3 Science Drive 2, Singapore, 117543, Singapore., Rui W; Centre for Quantum Technologies, National University of Singapore, 3 Science Drive 2, Singapore, 117543, Singapore., Reezwana A; Centre for Quantum Technologies, National University of Singapore, 3 Science Drive 2, Singapore, 117543, Singapore., Grieve JA; Centre for Quantum Technologies, National University of Singapore, 3 Science Drive 2, Singapore, 117543, Singapore.; Quantum Research Centre, Technology Innovation Institute, Abu Dhabi, UAE., Piera R; Quantum Research Centre, Technology Innovation Institute, Abu Dhabi, UAE., Ling A; Centre for Quantum Technologies, National University of Singapore, 3 Science Drive 2, Singapore, 117543, Singapore.; Department of Physics, National University of Singapore, Blk S12, 2 Science Drive 3, Singapore, 117542, Singapore.

المصدر: Scientific reports [Sci Rep] 2024 May 17; Vol. 14 (1), pp. 11337. Date of Electronic Publication: 2024 May 17.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: PubMed not MEDLINE; MEDLINE

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9

Rare genetic variation in VE-PTP is associated with central serous chorioretinopathy, venous dysfunction and glaucoma.

المؤلفون: Rämö JT; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Massachusetts Eye and Ear, Boston, MA, USA.; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Gorman B; Center for Data and Computational Sciences (C-DACS), VA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA.; Booz Allen Hamilton, McLean, VA, USA., Weng LC; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Jurgens SJ; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Singhanetr P; Massachusetts Eye and Ear, Boston, MA, USA.; Mettapracharak Eye Institute, Mettapracharak (Wat Rai Khing) Hospital, Nakhon Pathom, Thailand., Tieger MG; New England Eye Center, Tufts Medical Center, Boston, MA, USA., van Dijk EH; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Halladay CW; Center of Innovation in Long Term Services and Supports, Providence VA Medical Center, Providence, RI, USA., Wang X; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Brinks J; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Choi SH; Department of Biostatistics, Boston University, Boston, MA, USA., Luo Y; Massachusetts Eye and Ear, Boston, MA, USA., Pyarajan S; VA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA.; Department of Medicine, Brigham and Women's Hospital and Harvard School of Medicine, Boston, MA, USA., Nealon CL; Eye Clinic, VA Northeast Ohio Healthcare System, Cleveland, OH, USA., Gorin MB; Department of Ophthalmology, David Geffen School of Medicine, Stein Eye Institute, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, Stein Eye Institute, University of California, Los Angeles, Los Angeles, CA, USA., Wu WC; Section of Cardiology, Medical Service, VA Providence Healthcare System, Providence, RI, USA., Sobrin L; Harvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA., Kaarniranta K; Department of Ophthalmology, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland., Yzer S; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Palotie A; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Peachey NS; Research Service, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.; Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.; Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA., Turunen JA; Folkhälsan Research Center, Biomedicum, Helsinki, Finland.; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Boon CJ; Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Ellinor PT; Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Iyengar SK; Research Service, VA Northeast Ohio Healthcare System, Cleveland, OH, USA.; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA., Daly MJ; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rossin EJ; Harvard Medical School Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.

مؤلفون مشاركون: FinnGen, VA Million Veteran Program

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 09. Date of Electronic Publication: 2024 May 09.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

10

Editorial & Opinion

Vision on gyrate atrophy: why treat the eye?

المؤلفون: Bergen AA; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands., Buijs MJ; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands., Ten Asbroek AL; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands., Balfoort BM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands., Boon CJ; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; Department of Ophthalmology, Leiden UMC, Leiden, the Netherlands., Brands MM; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., Wanders RJ; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., van Karnebeek CD; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands., Houtkooper RH; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands. r.h.houtkooper@amsterdamumc.nl.; Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, the Netherlands. r.h.houtkooper@amsterdamumc.nl.

مؤلفون مشاركون: Dutch GACR “Bird’s Eye View” Consortium

المصدر: EMBO molecular medicine [EMBO Mol Med] 2024 Jan; Vol. 16 (1), pp. 4-7. Date of Electronic Publication: 2023 Dec 14.

نوع المنشور: Letter

بيانات الدورية: Publisher: EMBO Press Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

مواضيع طبية MeSH: Gyrate Atrophy*/genetics , Gyrate Atrophy*/pathology , Gyrate Atrophy*/therapy , Retinal Degeneration*/therapy , Retinal Degeneration*/pathology, Humans ; Retina/pathology ; Choroid ; Atrophy/pathology

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