Results 51 to 60 of about 354,098 (326)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Ability of the optical coherence tomography parameters to identify retinal nerve fibre layer defect in Indian eyes with mild glaucoma

AJO International
Purpose: To compare the diagnostic ability of thickness, deviation and clock-hour map of spectral domain optical coherence tomography (OCT) to detect retinal nerve fibre layer (RNFL) defect in mild glaucoma. Design: Cross sectional study.
Flonny Sunny, Premanand Chandran, Liji Joy, Ganesh V Raman   +3 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Three-Dimensional Spectral-Domain Optical Coherence Tomography Data Analysis for Glaucoma Detection [PDF]

, 2013
Purpose: To develop a new three-dimensional (3D) spectral-domain optical coherence tomography (SD-OCT) data analysis method using a machine learning technique based on variable-size super pixel segmentation that efficiently utilizes full 3D dataset to ...
C Ajtony, CK Leung, ER DeLong, Gadi Wollstein, H Ishikawa, Hiroshi Ishikawa, J Friedman, J Xu, J Xu, JA Hanley, JB Shi, Joel S. Schuman, JS Schuman, Juan Xu, KA Townsend, Larry Kagemann, Lindsey S. Folio, LS Folio, ME Pons, ML Gabriele, ML Gabriele, MR Hee, MR Hee, Pedro Gonzalez, Richard A. Bilonick, W Drexler, Zach Nadler   +26 more
core   +3 more sources

The complexity of dementia development and its comorbidities: The collaborative cross‐mouse population for multivarious tasks approach

Animal Models and Experimental Medicine, EarlyView.
The increasing prevalence of dementia and related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis—poses a growing public health challenge. These conditions have traditionally been studied as isolated central nervous system disorders, but emerging evidence points to ...
Osayd Zohud, Iqbal M. Lone, Kareem Midlej, Fuad A. Iraqi   +3 more
wiley   +1 more source

Web Applicable Computer-aided Diagnosis of Glaucoma Using Deep Learning [PDF]

, 2018
Glaucoma is a major eye disease, leading to vision loss in the absence of proper medical treatment. Current diagnosis of glaucoma is performed by ophthalmologists who are often analyzing several types of medical images generated by different types of ...
De Neve, Wesley, Janssens, Olivier, Kim, Mijung, Park, Ho-min, Van Hoecke, Sofie, Zuallaert, Jasper   +5 more
core   +1 more source

Matrix Metalloproteinases and Glaucoma Treatment. [PDF]

, 2020
Matrix metalloproteinases (MMPs) are a family of proteolytic enzymes that degrade extracellular matrix (ECM) components such as collagen and have important roles in multiple biological processes, including development and tissue remodeling, both in ...
Dibas, Mohammed, Robinson, Michael R, Stamer, W Daniel, Weinreb, Robert N   +3 more
core  

Severity of Visual Field Loss at First Presentation to Glaucoma Clinics in England and Tanzania [PDF]

, 2019
Purpose: To compare severity of visual field (VF) loss at first presentation in glaucoma clinics in England and Tanzania. Methods: Large archives of VF records from automated perimetry were used to retrospectively examine vision loss at first ...
Adegbehingbe BO, Buhrmann RR, Dandona R, David P. Crabb, Ellong A, Fraser S, Heiko Philippin, Matthew J. Burton, Pete R. Jones, William U. Makupa   +9 more
core   +3 more sources

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

Advanced NanoBiomed Research, EarlyView.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov, Murugan Ramalingam, Hongkai Wu, Toshinori Fujie, Yukinari Nakamura, Takeshi Hori, Yuji Nashimoto, Xuetao Shi, Hirokazu Kaji   +8 more
wiley   +1 more source

The Relationship of the Clinical Disc Margin and Bruch's Membrane Opening in Normal and Glaucoma Subjects. [PDF]

, 2016
PurposeWe tested the hypotheses that the mismatch between the clinical disc margin (CDM) and Bruch's membrane opening (BMO) is a function of BMO area (BMOA) and is affected by the presence of glaucoma.MethodsA total of 45 normal eyes (45 subjects) and 53
Amini, Navid, Caprioli, Joseph, Chung, Norman, Henry, Sharon, Miraftabi, Arezoo, Nouri-Mahdavi, Kouros, Nowroozizadeh, Sarah   +6 more
core