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Wyszukujesz frazę ""Downes, Susan M."" wg kryterium: Autor

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Tytuł:
Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome).
Autorzy:
Anandan M; Specialist Registrar, Oxford Eye Hospital, Woodstock Road, Oxford, OX2 6HE, United Kingdom.
Porter NJ
Nemeth AH
Blair E
Downes SM
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Źródło:
Ophthalmic genetics [Ophthalmic Genet] 2005 Dec; Vol. 26 (4), pp. 181-3.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Abnormalities, Multiple/*genetics
Face/*abnormalities
Growth Disorders/*genetics
Intellectual Disability/*genetics
Retinal Diseases/*genetics
Retinal Vessels/*pathology
Telangiectasis/*genetics
Diseases in Twins/genetics ; Humans ; Infant ; Laser Coagulation ; Male ; Retinal Diseases/surgery ; Retinal Vessels/surgery ; Syndrome ; Telangiectasis/surgery ; Twins, Monozygotic/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Midlife diagnosis of Refsum Disease in siblings with Retinitis Pigmentosa – the footprint is the clue: a case report
Autorzy:
Jayaram Hari
Downes Susan M
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Temat:
Medicine
Źródło:
Journal of Medical Case Reports, Vol 2, Iss 1, p 80 (2008)
Opis pliku:
electronic resource
Relacje:
http://www.jmedicalcasereports.com/content/2/1/80; https://doaj.org/toc/1752-1947
Dostęp URL:
https://doaj.org/article/1712827c9eec4da8be1fd6e4d3894eb2  Link otwiera się w nowym oknie
Czasopismo naukowe
Szczegóły
Tytuł:
Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa.
Autorzy:
Davidson, Alice E.
Millar, Ian D.
Urquhart, Jill E.
Burgess-Mullan, Rosemary
Shweikh, Yusrah
Parry, Neil
O'Sullivan, James
Maher, Geoffrey J.
McKibbin, Martin
Downes, Susan M.
Lotery, Andrew J.
Jacobson, Samuel G.
Brown, Peter D.
Black, Graeme C. M.
Manson, Forbes D. C.
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Źródło:
American Journal of Human Genetics. 11/3/2009, Vol. 85 Issue 5, p581-592. 12p. 5 Graphs.
Czasopismo naukowe
Szczegóły
Tytuł:
Designing and testing scene enhancement algorithms for patients with retina degenerative disorders
Autorzy:
Downes Susan M
Memon Muhammad A
Al-Atabany Walid I
Degenaar Patrick A
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Temat:
Medical technology
R855-855.5
Źródło:
BioMedical Engineering OnLine, Vol 9, Iss 1, p 27 (2010)
Opis pliku:
electronic resource
Relacje:
http://www.biomedical-engineering-online.com/content/9/1/27; https://doaj.org/toc/1475-925X
Dostęp URL:
https://doaj.org/article/02df19de041c42768fc321864d8ae7ae  Link otwiera się w nowym oknie
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Designing and testing scene enhancement algorithms for patients with retina degenerative disorders.
Autorzy:
Al-Atabany WI; Institute of Biomedical Engineering, Imperial College, South Kensington, London, UK. />Memon MA
Downes SM
Degenaar PA
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Źródło:
Biomedical engineering online [Biomed Eng Online] 2010 Jun 18; Vol. 9, pp. 27. Date of Electronic Publication: 2010 Jun 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Algorithms*
Eye Diseases/*physiopathology
Retina/*physiology
Retina/*physiopathology
Color ; Contrast Sensitivity ; Humans ; Models, Biological ; Pattern Recognition, Visual ; Retina/pathology ; Visual Acuity
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Autorzy:
Shanks ME; Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Downes SM
Copley RR
Lise S
Broxholme J
Hudspith KA
Kwasniewska A
Davies WI
Hankins MW
Packham ER
Clouston P
Seller A
Wilkie AO
Taylor JC
Ragoussis J
Németh AH
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Mar; Vol. 21 (3), pp. 274-80. Date of Electronic Publication: 2012 Sep 12.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Retinal Degeneration/*diagnosis
Retinal Degeneration/*genetics
Sequence Analysis, DNA/*methods
Age of Onset ; Humans ; Retinal Degeneration/epidemiology ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/genetics ; Rhodopsin/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Alternative treatments to inhibit VEGF in age-related choroidal neovascularisation: 2-year findings ofthe IVAN randomised controlled trial.
Autorzy:
Chakravarthy, Usha
Harding, Simon P
Rogers, Chris A
Downes, Susan M
Lotery, Andrew J
Culliford, Lucy A
Reeves, Barnaby C
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Temat:
RETINAL degeneration treatment
BEVACIZUMAB
VASCULAR endothelial growth factors
DRUG efficacy
CLINICAL trials
Źródło:
Lancet. 10/12/2013, Vol. 382 Issue 9900, p1258-1267. 10p. 5 Diagrams, 2 Charts.
Czasopismo naukowe
Szczegóły
Tytuł:
Understanding the impact of genetic testing for inherited retinal dystrophy.
Autorzy:
Combs R; University of Manchester, Manchester, UK.
McAllister M
Payne K
Lowndes J
Devery S
Webster AR
Downes SM
Moore AT
Ramsden S
Black G
Hall G
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Nov; Vol. 21 (11), pp. 1209-13. Date of Electronic Publication: 2013 Feb 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Genetic Testing*
Inheritance Patterns/*genetics
Retinal Dystrophies/*genetics
Female ; Health Knowledge, Attitudes, Practice ; Humans ; Male ; Retinal Dystrophies/diagnosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Autorzy:
Abrams AJ; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [3] Department of Biology, University of Miami, Coral Gables, Florida, USA.
Hufnagel RB; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Rebelo A; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
Zanna C; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Patel N; Department of Biology, University of Miami, Coral Gables, Florida, USA.
Gonzalez MA; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
Campeanu IJ; Department of Biology, University of Miami, Coral Gables, Florida, USA.
Griffin LB; 1] Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan, USA. [2] Medical Scientist Training Program, University of Michigan, Ann Arbor, Michigan, USA.
Groenewald S; Department of Biology, University of Miami, Coral Gables, Florida, USA.
Strickland AV; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
Tao F; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
Speziani F; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
Abreu L; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
Schüle R; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [3] Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. [4] German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Caporali L; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy.
La Morgia C; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Maresca A; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Liguori R; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Lodi R; Policlinico S. Orsola-Malpighi Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Ahmed ZM; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, USA.
Sund KL; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Wang X; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Krueger LA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Peng Y; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Prada CE; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Prows CA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Schorry EK; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Antonellis A; 1] Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA. [2] Department of Neurology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Zimmerman HH; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Abdul-Rahman OA; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Downes SM; 1] Nuffield Department of Clinical Neuroscience, University of Oxford, John Radcliffe Hospital, Oxford, UK. [2] Oxford Eye Hospital National Health Service (NHS) Trust, Oxford, UK.
Prince J; Department of Biology, University of Miami, Coral Gables, Florida, USA.
Fontanesi F; Department of Biochemistry and Molecular Biology, University of Miami, Miami, Florida, USA.
Barrientos A; 1] Department of Biochemistry and Molecular Biology, University of Miami, Miami, Florida, USA. [2] Department of Neurology, University of Miami, Miami, Florida, USA.
Németh AH; 1] Nuffield Department of Clinical Neuroscience, University of Oxford, John Radcliffe Hospital, Oxford, UK. [2] Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
Carelli V; 1] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, Bologna, Italy. [2] Neurology Unit, Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Huang T; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Zuchner S; 1] John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA. [2] Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.
Dallman JE; Department of Biology, University of Miami, Coral Gables, Florida, USA.
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Źródło:
Nature genetics [Nat Genet] 2015 Aug; Vol. 47 (8), pp. 926-32. Date of Electronic Publication: 2015 Jul 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Genetic Predisposition to Disease/*genetics
Mitochondrial Proteins/*genetics
Optic Atrophy, Autosomal Dominant/*genetics
Phosphate Transport Proteins/*genetics
Animals ; Animals, Genetically Modified ; COS Cells ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/metabolism ; Chlorocebus aethiops ; Embryo, Nonmammalian/embryology ; Embryo, Nonmammalian/metabolism ; Embryo, Nonmammalian/ultrastructure ; Exome/genetics ; Female ; HEK293 Cells ; Humans ; Male ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Microscopy, Confocal ; Microscopy, Electron, Transmission ; Mitochondrial Membranes/metabolism ; Mitochondrial Proteins/metabolism ; Muscle Proteins/genetics ; Muscle Proteins/metabolism ; Optic Atrophy, Autosomal Dominant/metabolism ; Optic Atrophy, Autosomal Dominant/pathology ; Pedigree ; Phosphate Transport Proteins/metabolism ; Protein Binding ; RNA Interference ; Saccharomyces cerevisiae Proteins/genetics ; Saccharomyces cerevisiae Proteins/metabolism ; Sequence Analysis, DNA ; Zebrafish/embryology ; Zebrafish/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Comparing half-dose photodynamic therapy with high-density subthreshold micropulse laser treatment in patients with chronic central serous chorioretinopathy (the PLACE trial): study protocol for a randomized controlled trial.
Autorzy:
Breukink MB; Department of Ophthalmology, Radboud University Medical Center, Philips van Leydenlaan 15, 6525 EX, Nijmegen, The Netherlands.
Downes SM; Oxford Eye Hospital, John Radcliffe Hospital, West Wing Headington, Oxford, OX3 9DU, UK.
Querques G; Department of Ophthalmology, University Paris Est Creteil, Center Hospitalier Intercommunal de Creteil, 40 avenue du Verdun, 94000, Creteil, France.
van Dijk EHC; Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands.
den Hollander AI; Department of Ophthalmology and Department of Human Genetics, Radboud University Medical Center, Philips van Leydenlaan 15, 6525 EX, Nijmegen, The Netherlands.
Blanco-Garavito R; Department of Ophthalmology, University Paris Est Creteil, Center Hospitalier Intercommunal de Creteil, 40 avenue du Verdun, 94000, Creteil, France.
Keunen JEE; Department of Ophthalmology, Radboud University Medical Center, Philips van Leydenlaan 15, 6525 EX, Nijmegen, The Netherlands.
Souied EH; Department of Ophthalmology, University Paris Est Creteil, Center Hospitalier Intercommunal de Creteil, 40 avenue du Verdun, 94000, Creteil, France.
MacLaren RE; Oxford Eye Hospital, John Radcliffe Hospital, West Wing Headington, Oxford, OX3 9DU, UK.
Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Philips van Leydenlaan 15, 6525 EX, Nijmegen, The Netherlands.
Fauser S; Department of Ophthalmology, University Hospital of Cologne, Kerpener Strasse 62, 50924, Cologne, Germany.
Boon CJF; Department of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333, ZA, Leiden, The Netherlands. .
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Źródło:
Trials [Trials] 2015 Sep 21; Vol. 16, pp. 419. Date of Electronic Publication: 2015 Sep 21.
Typ publikacji:
Comparative Study; Journal Article; Multicenter Study; Randomized Controlled Trial
MeSH Terms:
Central Serous Chorioretinopathy/*surgery
Laser Therapy/*methods
Photochemotherapy/*methods
Photosensitizing Agents/*administration & dosage
Central Serous Chorioretinopathy/diagnosis ; Central Serous Chorioretinopathy/physiopathology ; Chronic Disease ; Clinical Protocols ; Diagnostic Techniques, Ophthalmological ; Female ; Humans ; Laser Therapy/adverse effects ; Male ; Netherlands ; Photochemotherapy/adverse effects ; Photosensitizing Agents/adverse effects ; Prospective Studies ; Quality of Life ; Recovery of Function ; Research Design ; Surveys and Questionnaires ; Time Factors ; Treatment Outcome ; Vision, Ocular
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 200

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