Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Manson FD"'
Autor:
Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC
Publikováno v:
ORPHANET JOURNAL OF RARE DISEASES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Background: Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::7f7af312796403bf5bda4c5675ce29b4
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2255
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=2255
Autor:
Kristen D. Hadfield, Stephan C.F. Neuhauss, James O'Sullivan, Sofie Hateley, Rajeshwari S. Bhat, Sara Barbato, Forbes D C Manson, Sandro Banfi, Mariateresa Pizzo, Ivan Conte, Marianthi Karali, Sabrina Carrella, Louise F. Porter, Graeme C.M. Black, Jill E. Urquhart, Annamaria Carissimo
Ocular developmental disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collectively represent leading causes of hereditary blindness. Characterized by extreme genetic and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edb79e9c1e736db973c9cb1477b21113
http://hdl.handle.net/11588/784302
http://hdl.handle.net/11588/784302
Autor:
Jiman OA; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre (MAHSC), University of Manchester, Manchester, UK.; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia., Taylor RL; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre (MAHSC), University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Lenassi E; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Smith JC; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre (MAHSC), University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Douzgou S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre (MAHSC), University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Ellingford JM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre (MAHSC), University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Barton S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Hardcastle C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Fletcher T; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Campbell C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Ashworth J; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre (MAHSC), University of Manchester, Manchester, UK.; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Biswas S; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Ramsden SC; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre (MAHSC), University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK., Manson FD; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre (MAHSC), University of Manchester, Manchester, UK., Black GC; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre (MAHSC), University of Manchester, Manchester, UK. Graeme.black@manchester.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK. Graeme.black@manchester.ac.uk.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2020 May; Vol. 28 (5), pp. 576-586. Date of Electronic Publication: 2019 Dec 13.
Autor:
Wood SR; 1 Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., McClements ME; 1 Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Martinez-Fernandez de la Camara C; 1 Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Patrício MI; 1 Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Uggenti C; 2 Division of Evolution and Genomic Sciences, The University of Manchester, Manchester, United Kingdom., Sekaran S; 1 Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Barnard AR; 1 Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom., Manson FD; 2 Division of Evolution and Genomic Sciences, The University of Manchester, Manchester, United Kingdom., MacLaren RE; 1 Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.; 3 National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC), Oxford, United Kingdom.; 4 Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
Publikováno v:
Human gene therapy methods [Hum Gene Ther Methods] 2019 Apr; Vol. 30 (2), pp. 44-52.
Autor:
Uggenti C; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK., Briant K; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK., Streit AK; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK., Thomson S; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK., Koay YH; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK., Baines RA; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK., Swanton E; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK lisa.swanton@manchester.ac.uk forbes.manson@manchester.ac.uk., Manson FD; Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK lisa.swanton@manchester.ac.uk forbes.manson@manchester.ac.uk.
Publikováno v:
Disease models & mechanisms [Dis Model Mech] 2016 Nov 01; Vol. 9 (11), pp. 1317-1328. Date of Electronic Publication: 2016 Aug 12.
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.
Autor:
Porter LF; Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK, Manchester Royal Eye Hospital, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK, Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK., Galli GG; Stem Cell Program, Boston Children's Hospital, Harvard Stem Cell and Regenerative Biology Department and Harvard Stem Cell Institute, Harvard University, Boston, MA, USA, Biotech Research and Innovation Centre and Centre for Epigenetics, University of Copenhagen, Copenhagen, Denmark., Williamson S; Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK., Selley J; Faculty of Life Sciences, Michael Smith Building, Manchester, UK., Knight D; Faculty of Life Sciences, Michael Smith Building, Manchester, UK., Elcioglu N; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey., Aydin A; Department of Ophthalmology, University of Medipol Medical Faculty, Istanbul, Turkey., Elcioglu M; Department of Ophthalmology, Okmeydani Research and Training Hospital, Istanbul, Turkey., Venselaar H; Centre of Molecular and Biomolecular Informatics, Radboudumc Institute for Molecular Life Sciences, Nijmegen, The Netherlands and., Lund AH; Biotech Research and Innovation Centre and Centre for Epigenetics, University of Copenhagen, Copenhagen, Denmark., Bonshek R; Manchester Royal Eye Hospital, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK, National Ophthalmic Pathology Service Laboratory, Department of Histopathology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Black GC; Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK graeme.black@manchester.ac.uk., Manson FD; Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2015 Dec 01; Vol. 24 (23), pp. 6565-79. Date of Electronic Publication: 2015 Sep 22.
Autor:
Conte I; Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy;, Hadfield KD; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom;, Barbato S; Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy;, Carrella S; Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy;, Pizzo M; Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy;, Bhat RS; Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy;, Carissimo A; Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy;, Karali M; Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy;, Porter LF; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom;, Urquhart J; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom;, Hateley S; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom;, O'Sullivan J; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom;, Manson FD; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom;, Neuhauss SC; Institute of Molecular Life Sciences, University of Zurich, CH-8057 Zurich, Switzerland;, Banfi S; Telethon Institute of Genetics and Medicine, Pozzuoli 80078, Italy; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology, Second University of Naples, 80138 Naples, Italy; European Retinal Dystrophy Consortium; banfi@tigem.it graeme.black@manchester.ac.uk., Black GC; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom; European Retinal Dystrophy Consortium; United Kingdom Inherited Retinal Disease Consortium, Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals National Health Service Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom banfi@tigem.it graeme.black@manchester.ac.uk.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2015 Jun 23; Vol. 112 (25), pp. E3236-45. Date of Electronic Publication: 2015 Jun 08.
Autor:
Johnson AA; Physiological Sciences Graduate Interdisciplinary Program, University of Arizona, Tucson, AZ 85724, USA; Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: Johnson.Adiv@mayo.edu., Lee YS; Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: Lee.Yong@mayo.edu., Chadburn AJ; Faculty of Life Sciences, Faculty of Medical and Human Sciences, The University of Manchester, Manchester M13 9PT, United Kingdom. Electronic address: andrewchadburn@gmail.com., Tammaro P; Faculty of Life Sciences, Faculty of Medical and Human Sciences, The University of Manchester, Manchester M13 9PT, United Kingdom. Electronic address: paolo.tammaro@pharm.ox.ac.uk., Manson FD; Manchester Centre for Genomic Medicine, Faculty of Medical and Human Sciences, The University of Manchester, Manchester M13 9PT, United Kingdom. Electronic address: Forbes.D.Manson@manchester.ac.uk., Marmorstein LY; Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: Marmorstein.Lihua@mayo.edu., Marmorstein AD; Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: Marmorstein.Alan@mayo.edu.
Publikováno v:
Experimental eye research [Exp Eye Res] 2014 Apr; Vol. 121, pp. 74-85. Date of Electronic Publication: 2014 Feb 19.
Autor:
Courtney DG; School of Biomedical Sciences, University of Ulster, Coleraine, Northern Ireland, United Kingdom., Atkinson SD, Moore JE, Maurizi E, Serafini C, Pellegrini G, Black GC, Manson FD, Yam GH, Macewen CJ, Allen EH, McLean WH, Moore CB
Publikováno v:
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2014 Feb 18; Vol. 55 (2), pp. 977-85. Date of Electronic Publication: 2014 Feb 18.
Autor:
Rohrbach M; Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital, Zurich, Switzerland., Spencer HL, Porter LF, Burkitt-Wright EM, Bürer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2013 Jul; Vol. 109 (3), pp. 289-95. Date of Electronic Publication: 2013 Apr 26.