Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Siemiatkowska AM"'
Autor:
Ellen A.W. Blokland, Frans P.M. Cremers, Lina Zelinger, Dikla Bandah-Rozenfeld, Dirk J. Lefeber, Tim M. Strom, Karlien L.M. Coene, Francesco Testa, Inbar Erdinest, Caroline C W Klaver, Francesca Simonelli, Anneke I. den Hollander, Krysta Voesenek, L. Ingeborgh van den Born, Anna M. Siemiatkowska, Raheel Qamar, Rob W.J. Collin, Muhammad Imran Khan, Dror Sharon, Sandro Banfi, Eyal Banin
Publikováno v:
American Journal of Human Genetics, 87(2), 199-208. Cell Press
American Journal of Human Genetics, 87, 2, pp. 199-208
American Journal of Human Genetics, 87, 199-208
American Journal of Human Genetics, 87, 2, pp. 199-208
American Journal of Human Genetics, 87, 199-208
Contains fulltext : 89392.pdf (Publisher’s version ) (Closed access) Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases caused by progressive degeneration of the photoreceptor cells. Using autozygosity mapping, we iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eeb833962b9fd1bf931d4b8d99275e0
https://europepmc.org/articles/PMC2917719/
https://europepmc.org/articles/PMC2917719/
Autor:
Liu YP; a Center for Human Disease Modeling , Duke University School of Medicine , Durham , North Carolina , USA., Bosch DG; b Bartiméus, Institute for the Visually Impaired , Zeist , the Netherlands.; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands., Siemiatkowska AM; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands., Rendtorff ND; f Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine , ICMM, University of Copenhagen , Copenhagen , Denmark.; g Department of Audiology , Bispebjerg Hospital and Rigshospitalet , Copenhagen , Denmark., Boonstra FN; b Bartiméus, Institute for the Visually Impaired , Zeist , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands., Möller C; h Audiological Research Centre, Faculty of Medicine and Health , Örebro University , Örebro , Sweden., Tranebjærg L; f Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine , ICMM, University of Copenhagen , Copenhagen , Denmark.; g Department of Audiology , Bispebjerg Hospital and Rigshospitalet , Copenhagen , Denmark., Katsanis N; a Center for Human Disease Modeling , Duke University School of Medicine , Durham , North Carolina , USA., Cremers FP; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2017 Mar-Apr; Vol. 38 (2), pp. 127-132. Date of Electronic Publication: 2016 Mar 30.
Autor:
van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Siemiatkowska AM, Özgül RK, Yücel D, Hoyng CB, Banin E, Blumenfeld A, Rotenstreich Y, Riemslag FC, den Hollander AI, Theelen T, Collin RW, van den Born LI, Klevering BJ
Publikováno v:
Acta ophthalmologica [Acta Ophthalmol] 2015 Feb; Vol. 93 (1), pp. 83-94. Date of Electronic Publication: 2014 Nov 11.
Autor:
Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France., Zhang Q; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Siemiatkowska AM; Department of Human Genetics., Liu Q; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Place E; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Falk MJ; Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Consugar M; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Lancelot ME; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France., Antonio A; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France., Lonjou C; Plateforme Post-génomique P3S, Hôpital Pitié Salpêtrière, Paris 75013, France., Carpentier W; Plateforme Post-génomique P3S, Hôpital Pitié Salpêtrière, Paris 75013, France., Mohand-Saïd S; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France Institut National de la Santé et de la Recherche Médicale and Direction de L'Hospitalisation et de L'Organisation des Soins Centre D'Investigation Clinique 1423, Centre Hospitalier National D'Ophtalmologie des Quinze-Vingts, Paris 75012, France., den Hollander AI; Department of Human Genetics Radboud Institute for Molecular Life Sciences, and Department of Ophthalmology, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands., Cremers FP; Department of Human Genetics Radboud Institute for Molecular Life Sciences, and., Leroy BP; Department of Ophthalmology and Center for Medical Genetics, Ghent University Hospital and Ghent University, Ghent 9000, Belgium Ophthalmic Genetics and Visual Electrophysiology, Division of Ophthalmology, The Children's Hospital of Philadelphia, PA 19104, USA., Gai X; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Sahel JA; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France Institut National de la Santé et de la Recherche Médicale and Direction de L'Hospitalisation et de L'Organisation des Soins Centre D'Investigation Clinique 1423, Centre Hospitalier National D'Ophtalmologie des Quinze-Vingts, Paris 75012, France Fondation Ophtalmologique Adolphe de Rothschild, Paris 75019, France Academie des Sciences, Institut de France, Paris 75006, France University College London, Institute of Ophthalmology, London EC1V 9EL, UK and., van den Born LI; The Rotterdam Eye Hospital, Rotterdam 3000 LM, The Netherlands., Collin RW; Department of Human Genetics Radboud Institute for Molecular Life Sciences, and., Zeitz C; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France., Audo I; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France Institut National de la Santé et de la Recherche Médicale and Direction de L'Hospitalisation et de L'Organisation des Soins Centre D'Investigation Clinique 1423, Centre Hospitalier National D'Ophtalmologie des Quinze-Vingts, Paris 75012, France University College London, Institute of Ophthalmology, London EC1V 9EL, UK and., Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA eric_pierce@meei.harvard.edu.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2015 Jan 01; Vol. 24 (1), pp. 230-42. Date of Electronic Publication: 2014 Aug 28.
Autor:
Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Bosch DG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands3Bartimeus Institute for the Visually Impaired, Zeist, the Netherlands., Boonstra FN; Bartimeus Institute for the Visually Impaired, Zeist, the Netherlands4Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Riemslag FC; Bartimeus Institute for the Visually Impaired, Zeist, the Netherlands5The Rotterdam Eye Hospital, Rotterdam, the Netherlands., Ruiter M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Vries BB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands4Donders Institute for Brain, Cognition and Behavior, Rad., den Hollander AI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands6Department of Ophthalmology, Radboud University Medical., Collin RW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Publikováno v:
JAMA ophthalmology [JAMA Ophthalmol] 2014 Aug; Vol. 132 (8), pp. 1002-4.
Autor:
Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Collin RW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., den Hollander AI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
Cold Spring Harbor perspectives in medicine [Cold Spring Harb Perspect Med] 2014 Jun 17; Vol. 4 (8). Date of Electronic Publication: 2014 Jun 17.
Autor:
Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands., van Genderen MM; Bartiméus Institute for the Visually Impaired, Zeist, The Netherlands., Bertelsen M; Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark ; Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark ; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Zobor D; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany., Rohrschneider K; Department of Ophthalmology, University of Heidelberg, Heidelberg, Germany., van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Nurohmah S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Klevering BJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany., Faradz SM; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Rosenberg T; Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark ; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., den Hollander AI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Collin RW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
Molecular vision [Mol Vis] 2014 Jun 02; Vol. 20, pp. 753-9. Date of Electronic Publication: 2014 Jun 02 (Print Publication: 2014).
Autor:
van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Collin RW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Klaver CC; Erasmus University Rotterdam Medical Center, Rotterdam, The Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Simonelli F; Department of Ophthalmology, Seconda Università degli Studi di Napoli, Naples, Italy., Khan MI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan., Qamar R; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Shifa College of Medicine, Islamabad, Pakistan., Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Theelen T; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., den Hollander AI; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Klevering BJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2014 May 29; Vol. 55 (6), pp. 3939-53. Date of Electronic Publication: 2014 May 29.
Autor:
Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Collin RW, den Hollander AI, Cremers FP, Siemiatkowska AM
Publikováno v:
Journal of medical genetics [J Med Genet] 2014 Mar; Vol. 51 (3), pp. 143-51. Date of Electronic Publication: 2014 Jan 08.
Autor:
Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands., van Hagen PM; Department of Immunology, Erasmus University Medical Centre, Rotterdam, The Netherlands., Stoffels M; Department of General Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands., Neveling K; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands., Henkes A; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Kipping-Geertsema M; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Hoefsloot LH; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, The Netherlands., Simon A; Department of General Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands., den Hollander AI; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, The Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands., Collin RWJ; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: r.collin@gen.umcn.nl.
Publikováno v:
Ophthalmology [Ophthalmology] 2013 Dec; Vol. 120 (12), pp. 2697-2705. Date of Electronic Publication: 2013 Sep 29.