Vision rehabilitation in glaucoma patients

Autor: Angell Shi, Sarwat Salim

Publikováno v: Current Opinion in Ophthalmology. 34:109-115

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b3d5d9e7713be6af0bfca5850229060f
https://doi.org/10.1097/icu.0000000000000930

Ophthalmologic findings in the Cornelia de Lange syndrome

Autor: Alex V. Levin, Angell Shi

Publikováno v: Ophthalmic Genetics. 40:1-6

Background Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including distinct ophthalmologic findings. In recent years, advances in molecular genetics have begun to provide new insight into the c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4f82a5dd4fe299a9555e44163ec1192
https://doi.org/10.1080/13816810.2019.1571617

Diagnosis and management of Cornelia de Lange syndrome

Autor: Chris Oliver, Anna Cereda, Julia O'Connor, Claudia Rigamonti, Ingrid D. C. van Balkom, Whitney Guthrie, David R. FitzPatrick, Paul A. Mulder, Angell Shi, Sylvia A. Huisman, Stacey L. Ishman, Matthew A. Deardorff, Lynne M. Kerr, Sigrid Piening, Joseph P. McCleery, Valérie Cormier-Daire, Peter M. Gillett, David Axtell, Antonella Costantino, Egbert J.W. Redeker, Carol J. Potter, Alex V. Levin, Angelo Selicorni, Raoul C.M. Hennekam, Natalie Blagowidow, Marco A. Grados, Mary Levis, Feliciano J. Ramos, Frank J. Kaiser, Zeynep Tümer, Joanna Moss, Juan Pié, Gerritjan Koekkoek, Laura Groves, Milena Mariani, Paola Francesca Ajmone, Amy Metrena, Ana L. Quaglio, Anne Marie Bisgaard, Leonie A. Menke, Jolanta Wierzba, Antonie D. Kline, David M. Richman

Publikováno v: Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tumer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews Genetics, vol. 19, no. 10, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0
Nature Reviews. Genetics
Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tümer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews. Genetics, vol. 19, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0818aeb6ab78c437f75857d687f3a286
https://doi.org/10.1038/s41576-018-0031-0

Retinal Findings in Young Children With Increased Intracranial Pressure From Nontraumatic Causes

Autor: Paul H. Phillips, Michael Partington, Emily A. McCourt, Gil Binenbaum, Brooke Geddie, Alex V. Levin, Susan Schloff, David L. Rogers, Waleed Abed Alnabi, Abhaya Kulkarni, Brian J. Forbes, Avery H. Weiss, Kenneth W. Feldman, Karin S. Bierbrauer, Angell Shi

Publikováno v: Pediatrics

OBJECTIVES: Increased intracranial pressure (ICP) has been suggested in legal settings as an alternative cause of retinal hemorrhages (RHs) in young children who may have sustained abusive head trauma. We assessed the prevalence and characteristics o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a42e7c08d94f0860dc621bb050ac254
https://europepmc.org/articles/PMC6361344/