Results 41 to 50 of about 3,805,826 (291)

Síndrome Axenfeld-Rieger: Presentación de un caso Axenfeld-Rieger syndrome: A case report

Revista Cubana de Oftalmología, 2000
Se presenta el estudio clínico de un caso representativo del Síndrome de Axenfeld-Rieger. En el examen clínico se constató corectopia, policoria, hipoplasia iridiana, glaucoma, hipertelorismo, aplanamiento de la base de la nariz, hipoplasia maxilar ...
Daysi Flores Pérez, Yunia H. Labrada Rodríguez, Migdalis González Leyva   +2 more
doaj  

Neuroectoderm-derived iris muscle characterization at the single-cell resolution in native human iris and a pluripotent stem cell eye model

Nature Communications
How the neuroectoderm-derived eye field breaks symmetry to specify iris muscle is not well understood. Recent studies have begun to transcriptionally characterize mouse iris muscle; however, little is known about the transcriptional foundation of human ...
Bar Makovoz, Anne Z. Eriksen, Rachael E. Warrington, Damian Williams, Timothy A. Blenkinsop   +4 more
doaj   +1 more source

Towards a Compositional Framework for Describing Human Phenotypes

Advanced Science, EarlyView.
The Phenotype Assembly Method (PhenoAM) decomposes phenotype variables into measurable Features and typed Qualifiers, enabling standardized, machine‐readable Phenome Data Elements (PhenoDEs) that preserve measurement context. Applied in the International Human Phenome Project (IHPP), the framework yields 58 371 PhenoDEs and supports component‐level ...
Wanting Hu, Yunchao Ling, Xinyue Hu, Wei Chen, Rong Zhou, Xinhao Zhuang, Yanfeng Jiang, Jialu Zhao, Xingdong Chen, Jingchun Luo, Li Jin, Guoqing Zhang   +11 more
wiley   +1 more source

Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma

BMC Biology, 2006
Background DBA/2J (D2) mice develop an age-related form of glaucoma. Their eyes progressively develop iris pigment dispersion and iris atrophy followed by increased intraocular pressure (IOP) and glaucomatous optic nerve damage.
Cosma Ioan M, Mao Mao, Libby Richard T, Anderson Michael G, Wilson Larry A, Smith Richard S, John Simon WM   +6 more
doaj   +1 more source

Refsum's disease: electron microscopy of an iris biopsy. [PDF]

British Journal of Ophthalmology, 1990
Refsum's disease (phytanic acid storage disease) results in an accumulation of lipid as a result of an absence of mitochondrial hydroxylation of phytanic acid. We describe a previously unrecorded electron microscopic study of lipid deposition in the iris pigment epithelium of a patient with Refsum's disease, and lipid was present in other sites within ...
A D, Dick, J, Jagger, A C, McCartney
openaire   +2 more sources

Antigen-specific interferon-gamma responses and innate cytokine balance in TB-IRIS. [PDF]

, 2014
Tuberculosis-associated immune reconstitution inflammatory syndrome (TB-IRIS) remains a poorly understood complication in HIV-TB patients receiving antiretroviral therapy (ART).
Luc Kestens, Goovaerts, Odin, Worodria, William, Robert Colebunders, Massinga-Loembé, Marguerite, Mascart, Françoise, Jennes, Wim, TB-IRIS Study Group, TBSG, Harriet Mayanja-Kizza, Kestens, Luc, Ann Ceulemans, Colebunders, Robert, Ceulemans, Ann, Kestens, L., Wim Jennes, William Worodria, Colebunders, R, Mayanja-Kizza, Harriet, TB-IRIS Study Group, Odin Goovaerts, Marguerite Massinga-Loembé   +20 more
core   +1 more source

Spatially Informed Feature Selection and Machine Learning in Matrix‐Assisted Laser Desorption/Ionization Imaging for Cohort‐Scale Molecular Tissue Phenomics in Glioblastoma

Advanced Intelligent Discovery, EarlyView.
Matrix‐assisted laser desorption/ionization imaging‐based identification of reliable small molecule markers across heterogeneous glioblastoma cohorts is challenging with intensity‐only methods. We present spatially informed feature selection (SIFS), a spatially informed framework that prioritizes molecules consistently colocalizing with histopathology.
Shad A. Mohammed, Denis Abu Sammour, Dirk C. Hoffmann, Philipp Sievers, Tobias Bausbacher, Melissa Hahn, Yasemin Ucal, Iris Mildenberger, Christiane A. Opitz, Stefan Schmidt, Michael Platten, Oliver Wasenmüller, Wolfgang Wick, Andreas von Deimling, Tobias Kessler, Carsten Hopf   +15 more
wiley   +1 more source

Carta del Grupo Arco Iris de Recibimiento a los Eurodiputados

, 1992
Carta del Grupo Arco Iris de Recibimiento a los Eurodiputados con fecha de noviembre de ...
Grupo Arco Iris
core   +2 more sources

Borrador del Mapa y Programa de las Jornadas Arco Iris de 1992

, 1992
Borrador del Mapa y Programa de las Jornadas Arco Iris con fecha de noviembre de ...
Grupo Arco Iris
core   +1 more source

A case of syphilis associated with immune reconstitution inflammatory syndrome and review of the literature

AIDS Research and Therapy, 2023
Background Immune reconstitution inflammatory syndrome (IRIS) associated with syphilis has rarely been described in HIV-infected patients. Diagnosis can be challenging because it is not always possible to discern it from a recent infection or a worsening
Luca Pipitò, Alice Annalisa Medaglia, Marcello Trizzino, Silvia Bonura, Claudia Gioè, Paola Di Carlo, Claudia Colomba, Antonio Cascio   +7 more
doaj   +1 more source