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Wyszukujesz frazę ""Manson FD"" wg kryterium: Autor


Wyświetlanie 1-2 z 2
Tytuł:
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
Autorzy:
Porter LF; Institute of Human Development, Centre for Genomic Medicine, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK. .; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester, M13 9WL, UK. .; Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK. .
Gallego-Pinazo R; Department of Ophthalmology, Unit of Macula, University and Polytechnic Hospital La Fe, Valencia, Spain. .
Keeling CL; Histopathology, Central Manchester University Hospitals, NHS Foundation Trust, Manchester Royal Infirmary, Oxford Road, Manchester, M13 9WL, UK. .
Kamieniorz M; Histopathology, Central Manchester University Hospitals, NHS Foundation Trust, Manchester Royal Infirmary, Oxford Road, Manchester, M13 9WL, UK. .
Zoppi N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. .
Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. .
Giunta C; Division of Metabolism, Connective Tissue Unit, University Children's Hospital and Children's Research Centre, (CRC) Zurich, Switzerland. .
Bonshek R; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Oxford Road, Manchester, M13 9WL, UK. .; Department of Histopathology, National Ophthalmic Pathology Service (NSOPS) Laboratory, Central Manchester University Hospitals, NHS Foundation Trust, Manchester Royal Infirmary, Oxford Road, Manchester, M13 9WL, UK. .
Manson FD; Institute of Human Development, Centre for Genomic Medicine, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK. Forbes.Manson@manchester.ac.uk.
Black GC; Institute of Human Development, Centre for Genomic Medicine, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK. .; Centre for Genomic Medicine, Central Manchester University Hospitals, NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Nov 11; Vol. 10, pp. 145. Date of Electronic Publication: 2015 Nov 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Bruch Membrane/*metabolism
Bruch Membrane/*pathology
DNA-Binding Proteins/*biosynthesis
Eye Abnormalities/*diagnosis
Eye Abnormalities/*metabolism
Joint Instability/*congenital
Skin Abnormalities/*diagnosis
Skin Abnormalities/*metabolism
Transcription Factors/*biosynthesis
Adolescent ; Adult ; Aged ; Amino Acid Sequence ; Cells, Cultured ; Child ; DNA-Binding Proteins/genetics ; Eye Abnormalities/genetics ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Humans ; Joint Instability/diagnosis ; Joint Instability/genetics ; Joint Instability/metabolism ; Male ; Middle Aged ; Molecular Sequence Data ; Skin Abnormalities/genetics ; Transcription Factors/genetics ; Young Adult
SCR Disease Name:
Brittle cornea syndrome 1
Czasopismo naukowe
Tytuł:
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
Autorzy:
Ramsden SC; Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Davidson AE
Leroy BP
Moore AT
Webster AR
Black GC
Manson FD
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2012 May; Vol. 20 (5). Date of Electronic Publication: 2012 Jan 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chloride Channels/*genetics
Eye Proteins/*genetics
Genetic Testing/*methods
Bestrophins ; Humans
Czasopismo naukowe
    Wyświetlanie 1-2 z 2

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