Results 151 to 160 of about 106,911 (284)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Multimorbidity and animal models

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Multimorbidity, defined as the coexistence of ≥2 chronic conditions, is associated with aging, genetics, and environmental factors. Animal models in multimorbidity research span three tiers: simple organisms for initial screening → rodents for mechanistic analysis → large mammals for clinical prediction.
Xinpei Wang   +7 more
wiley   +1 more source

Comparative studies of RNFL thickness measured by OCT with global index of visual fields in patients with ocular hypertension and early open angle glaucoma

open access: yesClinical Ophthalmology, 2009
Sergios Taliantzis, Dimitris Papaconstantinou, Chrysanthi Koutsandrea, Michalis Moschos, Michalis Apostolopoulos, Gerasimos GeorgopoulosAthens University Medical School, Department of Ophthalmology, Athens, GreecePurpose: To compare the functional ...
Sergios Taliantzis   +4 more
doaj  

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

open access: yesAnimal 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   +3 more
wiley   +1 more source

Glucocorticoid-Induced Ocular Hypertension and Glaucoma

open access: yesClinical Ophthalmology
Devon Hori Harvey,1,2 Chenna Kesavulu Sugali,1,2 Weiming Mao1– 5 1Department of Ophthalmology, Indiana University School of Medicine, Indianapolis, IN, USA; 2Eugene and Marilyn Glick Eye Institute, Indiana University School of Medicine, Indianapolis, IN,
Harvey DH, Sugali CK, Mao W
doaj  

Ocular manifestations of graft-versus-host disease: 10 years’ experience

open access: yesClinical Ophthalmology, 2015
Xihui Lin, Harrison Dwight Cavanagh Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX, USA Purpose: To evaluate the ocular presentation, treatment, and clinical course of graft-versus-host disease (GVHD).
Lin X, Cavanagh HD
doaj  

Omidenepag Isopropyl Versus Latanoprost in Primary Open-Angle Glaucoma and Ocular Hypertension [PDF]

open access: bronze, 2020
Makoto Aihara   +5 more
openalex   +1 more source

Clinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation

open access: yesAnnals of Neurology, EarlyView.
Objective To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...
Larysa Panteleienko   +9 more
wiley   +1 more source

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