المؤلفون: Inger Norlyk Sheyanth, Ihab Bishara Lolas, Henrik Okkels, Ligor Pradeep Kiruparajan, Søren Kromann Abildgaard, Michael Bjørn Petersen

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)

مصطلحات موضوعية: Doyne honeycomb retinal dystrophy, EFEMP1, Malattia leventinese, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/68b5106fdd6949f3bed154732400b298Test

المؤلفون: Kaiyan Zhang, Xuyang Sun, Yingying Chen, Qionglei Zhong, Lin Lin, Yuan Gao, Fanlin Hong

المصدر: BMC Ophthalmology, Vol 18, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Doyne honeycomb retinal dystrophy, Malattia leventinese, Drusen, Visual acuity, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12886-018-0988-7Test; https://doaj.org/toc/1471-2415Test

الوصول الحر: https://doaj.org/article/69a3293496f3431a97bff78075c7a738Test

المؤلفون: Sheyanth, Inger Norlyk, Lolas, Ihab Bishara, Okkels, Henrik, Kiruparajan, Ligor Pradeep, Abildgaard, Søren Kromann, Petersen, Michael Bjørn

المصدر: Sheyanth , I N , Lolas , I B , Okkels , H , Kiruparajan , L P , Abildgaard , S K & Petersen , M B 2021 , ' First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia ' , Molecular Genetics & Genomic Medicine , vol. 9 , no. 4 , e1652 . https://doi.org/10.1002/mgg3.1652Test

مصطلحات موضوعية: Doyne honeycomb retinal dystrophy, EFEMP1, Malattia leventinese

وصف الملف: application/pdf

العلاقة: https://vbn.aau.dk/da/publications/b3db8ebd-0395-428d-8376-8ff7352537b3Test

الإتاحة: https://doi.org/10.1002/mgg3.1652Test
https://vbn.aau.dk/da/publications/b3db8ebd-0395-428d-8376-8ff7352537b3Test
https://vbn.aau.dk/ws/files/413505872/Sheyanth_et_al._2021_First_reported_case_of_Doyne_honeycomb_retinal_dystrophy.pdfTest
http://www.scopus.com/inward/record.url?scp=85102263080&partnerID=8YFLogxKTest

المؤلفون: Gerth, C, Zawadzki, RJ, Werner, JS, Héon, E

المصدر: Eye. 23(2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Bioengineering, Neurodegenerative, Neurosciences, Eye Disease and Disorders of Vision, Aetiology, 2.1 Biological and endogenous factors, Eye, Adult, Bruch Membrane, Electroretinography, Extracellular Matrix Proteins, Eye Diseases, Hereditary, Humans, Male, Middle Aged, Mutation, Retina, Retinal Degeneration, Retinal Pigment Epithelium, Tomography, Optical Coherence, Visual Acuity, autosomal dominant drusen, EFEMP1, Fourier domain OCT, malattia leventinese, Clinical Sciences, Immunology, Opthalmology and Optometry, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/145169jwTest

المؤلفون: Takaaki Hayashi, Goji Tomita, Tomokazu Matsuura, Koji Tanaka, Remi Takeuchi, Ryusaburo Mori, Nobuko Enomoto

المصدر: Documenta Ophthalmologica. 144:67-75

مصطلحات موضوعية: Adult, Male, Proband, medicine.medical_specialty, Visual acuity, genetic structures, Drusen, Retina, Young Adult, Japan, Physiology (medical), Ophthalmology, Electroretinography, medicine, Humans, DOYNE HONEYCOMB RETINAL DYSTROPHY, MALATTIA LEVENTINESE, Extracellular Matrix Proteins, Optic Disk Drusen, business.industry, Middle Aged, Macular dystrophy, medicine.disease, eye diseases, Sensory Systems, Choroidal neovascularization, sense organs, medicine.symptom, business, Erg

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f53a97b6d56153d40111c4513cdd7613Test
https://doi.org/10.1007/s10633-021-09859-3Test

المؤلفون: Zayas-Santiago, Astrid, Cross, Samuel D., Stanton, James B., Marmorstein, Alan D., Marmorstein, Lihua Y.

مرشدي الرسالة: Univ Arizona, Dept Ophthalmol & Vis Sci, Department of Pathology & Laboratory Medicine, Universidad Central del Caribe, Bayamón, Puerto Rico, Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States, Department of Ophthalmology & Vision Science, University of Arizona, Tucson, Arizona, United States

مصطلحات موضوعية: age-related macular degeneration, Malattia Leventinese, EFEMP1 (fibulin-3), proteoglycans, diffusion

الإتاحة: http://hdl.handle.net/10150/624956Test
http://arizona.openrepository.com/arizona/handle/10150/624956Test

المؤلفون: Jae Shin Song, Un Chul Park, Eun Kyoung Lee, Hyeong Gon Yu, Baek Lok Oh

المصدر: Journal of the Korean Ophthalmological Society. 62:120-126

مصطلحات موضوعية: Multimodal imaging, Ophthalmology, medicine.medical_specialty, Pathology, business.industry, Molecular genetics, medicine, Drusen, DOYNE HONEYCOMB RETINAL DYSTROPHY, medicine.disease, business, MALATTIA LEVENTINESE, EFEMP1 gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8d0b450d1c0078324124e3f0339facabTest
https://doi.org/10.3341/jkos.2021.62.1.120Test

المؤلفون: R. Rojas Zuasti, L. Izaguirre Roncal, L. Tabuenca Del Barrio, E. Irigoyen Aznarez, M.J. Sarasate Zabalza, S. Azanza Barbarin, Á. Arrondo Nicolás

المصدر: Journal francais d'ophtalmologie. 45(1)

مصطلحات موضوعية: Dominant drusen, Adult, medicine.medical_specialty, business.industry, Optic Disk Drusen, Retinal Drusen, Ophthalmology, Young Adult, Medicine, Humans, Female, business, MALATTIA LEVENTINESE

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0dd965211b2a3c7481123c648a50a2bTest
https://pubmed.ncbi.nlm.nih.gov/34844779Test

المؤلفون: Henrik Okkels, Ihab Bishara Yousef Lolas, Ligor Pradeep Kiruparajan, Michael B. Petersen, Søren Kromann Opstrup Abildgaard, Inger Norlyk Sheyanth

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Sheyanth, I N, Lolas, I B, Okkels, H, Kiruparajan, L P, Abildgaard, S K & Petersen, M B 2021, ' First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia ', Molecular Genetics & Genomic Medicine, vol. 9, no. 4, e1652 . https://doi.org/10.1002/mgg3.1652Test
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Retinal Disorder, genetic structures, Mutation, Missense, Scandinavian and Nordic Countries, 030105 genetics & heredity, Drusen, QH426-470, Retina, Clinical Reports, 03 medical and health sciences, Ophthalmology, medicine, Genetics, Humans, Metamorphopsia, Molecular Biology, Genetics (clinical), Exome sequencing, Extracellular Matrix Proteins, Clinical Report, EFEMP1, Optic Disk Drusen, business.industry, Macular hyperpigmentation, Malattia leventinese, Middle Aged, medicine.disease, eye diseases, 030104 developmental biology, medicine.anatomical_structure, Choroidal neovascularization, Doyne honeycomb retinal dystrophy, Female, sense organs, medicine.symptom, business, Optic disc

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30cd65ce26fd650c394fad41846c9a89Test
https://doaj.org/article/68b5106fdd6949f3bed154732400b298Test

المؤلفون: Veronika Vaclavik, Daniel F. Schorderet, Hoai Viet Tran

المصدر: Ophthalmology. Retina. 4(10)

مصطلحات موضوعية: Genetics, Adult, medicine.medical_specialty, Extracellular Matrix Proteins, business.industry, Fundus Oculi, Optic Disk Drusen, DNA Mutational Analysis, Hot spot (veterinary medicine), DNA, Retina, Ophthalmology, Mutation (genetic algorithm), Mutation, Electroretinography, Medicine, Humans, Female, Fluorescein Angiography, business, Founder mutation, MALATTIA LEVENTINESE, Tomography, Optical Coherence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a75d310ca60bb205fb45c4c293580b21Test
https://pubmed.ncbi.nlm.nih.gov/33019987Test