Zobrazeno 1 - 10 of 216 pro vyhledávání: '"Gc, Black"'
2
A previously undescribed autosomal recessive retinal dystrophy
Autor: Je Urqhart, P Kestelyn, R Burgess, A.G. Robson, Im Fearon, A. R. Webster, Id Millar, E. De Baere, Fdc Manson, B.P. Leroy, Pd Brown, Gc Black, Ge Holder, Ga Wright
Publikováno v: Acta Ophthalmologica Scandinavica. 85
Purpose: To report a previously undescribed autosomal recessive retinal dystrophy Methods: Seven patients from five families in two countries were ascertained with progressive visual loss and punctate retinal flecks. All patients received full ophtha
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::387b1a06dfb015a72eafa0a1aa1e39e7
https://doi.org/10.1111/j.1600-0420.2007.01063_3096.x
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3
Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis)
Autor: Se, Fisher, Gc, Black, Se, Lloyd, Hatchwell E, Wrong O, Rv, Thakker, Ian Craig
Publikováno v: Human Molecular Genetics
Europe PubMed Central
Dent's disease, an X-linked renal tubular disorder, is a form of Fanconi syndrome which is characterized by proteinuria, hypercalciuria, nephrocalcinosis, kidney stones and renal failure. Previous studies localised the gene responsible to Xp11.22, wi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7c3e6ff5cdb3c1c9a485dd63ae2aa565
https://hdl.handle.net/11858/00-001M-0000-0012-CC10-E
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6
Akademický článek
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
Autor: Lin S; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK., Robson AG; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK., Thompson DA; Tony Kriss Visual Electrophysiology Unit, Department of Clinical and Academic Department of Ophthalmology, Sight and Sound Centre, Great Ormond Street Hospital for Children, London, UK.; UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Stepien KM; Adult Inherited Metabolic Disorders, Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, London, UK., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Footitt E; Department of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK., Czyz O; Department of Metabolic Paediatrics, Great Ormond Street Hospital, London, UK., Chandrasekhar S; UCL Institute of Ophthalmology, University College London, London, UK., Schiff E; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK., Iosifidis C; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Black GC; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Michaelides M; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK., Mahroo OA; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, St Thomas' Hospital, London, UK., Arno G; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.; Division of Research, Greenwood Genetic Center, Greenwood, South Carolina, USA., Webster AR; NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.
Publikováno v: Clinical genetics [Clin Genet] 2024 Oct; Vol. 106 (4), pp. 505-511. Date of Electronic Publication: 2024 Jun 11.
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7
Akademický článek
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Autor: Green DJ; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Michaud V; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.; INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Lasseaux E; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Plaisant C; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Fitzgerald T; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK., Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK., Black GC; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Arveiler B; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.; INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Sergouniotis PI; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK. panagiotis.sergouniotis@manchester.ac.uk.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.
Publikováno v: Nature communications [Nat Commun] 2024 Sep 30; Vol. 15 (1), pp. 8436. Date of Electronic Publication: 2024 Sep 30.
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8
Akademický článek
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene.
Autor: Andhika NS; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Biswas S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Hardcastle C; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Green DJ; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Ramsden SC; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge, UK., Black GC; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Sergouniotis PI; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge, UK. panagiotis.sergouniotis@manchester.ac.uk.
Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 1005-1013. Date of Electronic Publication: 2024 Jun 07.
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9
Akademický článek
Biallelic variants in Plexin B2 ( PLXNB2 ) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Autor: Smith CEL; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK bgycels@leeds.ac.uk., Laugel-Haushalter V; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France., Hany U; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Best S; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Taylor RL; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; EMQN CIC, Manchester, UK., Poulter JA; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Wortmann SB; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Feichtinger RG; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria., Mayr JA; Department of Paediatrics, University Children's Hospital, Salzburger Landesklinken (SALK) and Paracelsus Medical University, Salzburg, Austria., Al Bahlani S; Dental & OMFS Clinic, Al Nahdha Hospital, Government of Oman Ministry of Health, Muscat, Oman., Nikolopoulos G; Institute for Fundamental Biomedical Research, BSRC Alexander Fleming, Vari, Greece., Rigby A; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; School of Dentistry, University of Leeds Faculty of Medicine and Health, Leeds, UK., Black GC; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK., Watson CM; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK.; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Mansour S; Lymphovascular Research Unit, Molecular and Clinical Sciences Research Institute, St George's Hospital, University of London, London, UK.; SW Thames Regional Centre for Genomics, St George's University Hospitals NHS Foundation Trust, London, UK., Inglehearn CF; Institute of Medical Research, St James's University Hospital, University of Leeds Faculty of Medicine and Health, Leeds, UK., Mighell AJ; School of Dentistry, University of Leeds Faculty of Medicine and Health, Leeds, UK., Bloch-Zupan A; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France.; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.; Centre de référence des maladies rares orales et dentaires O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network CRANIO, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France.
Publikováno v: Journal of medical genetics [J Med Genet] 2024 Jun 20; Vol. 61 (7), pp. 689-698. Date of Electronic Publication: 2024 Jun 20.
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10
Akademický článek
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
Autor: Sergouniotis PI; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK panagiotis.sergouniotis@manchester.ac.uk benoit.arveiler@chu-bordeaux.fr graeme.black@manchester.ac.uk.; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Michaud V; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.; INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Lasseaux E; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Campbell C; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Plaisant C; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France., Javerzat S; INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France., Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK., Ramsden SC; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Black GC; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK panagiotis.sergouniotis@manchester.ac.uk benoit.arveiler@chu-bordeaux.fr graeme.black@manchester.ac.uk.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Arveiler B; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France panagiotis.sergouniotis@manchester.ac.uk benoit.arveiler@chu-bordeaux.fr graeme.black@manchester.ac.uk.; INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France.
Publikováno v: Journal of medical genetics [J Med Genet] 2023 Nov 27; Vol. 60 (12), pp. 1245-1249. Date of Electronic Publication: 2023 Nov 27.
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