Results 121 to 130 of about 5,870 (232)

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Spontaneous Pathologic Myopia and Contributing Factors in Nonhuman Primate Models. [PDF]

Transl Vis Sci Technol
Tian J, Liu W, Yang C, Zhu Y, Hou S, Zhuo Y, Wu J, Wang N.   +7 more
europepmc   +1 more source

Factors associated with the recurrence of choroidal neovascularization in pathologic myopia. [PDF]

Front Med (Lausanne), 2022
Jing R, Bo Y, Gao L, Wang Z.
europepmc   +1 more source

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

Clinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linea von Holstein, Lisbeth Birk Møller, Mette Kjøbæk Gundestrup Andersen, Marianne Søndergaard Khinchi, Steffen Hamann, Marianne Wegener, Mette Bertelsen   +9 more
wiley   +1 more source

Abnormal Glycaemic Fluctuations Associated With Early Microvascular Changes in the Retina and Choroid of Nondiabetic Adults

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims To evaluate the association between continuous glucose monitoring (CGM)‐derived glycaemic variability indicators and early microvascular changes of the retina and choroid in nondiabetic individuals. Materials and Methods Community‐based individuals at high risk for type 2 diabetes (T2DM) underwent detailed assessments including oral ...
Yan Jiang, Liping Gu, Yuhang Ma, Yuan Qu, Hancong Wan, Kangjia Lv, Qian Zhu, Hao Zhou, Jian Sun, Fei Lu, Xiaowei Li, Yufei Wang, Jian Zhou, Kun Liu, Yufan Wang, Yinchen Shen   +15 more
wiley   +1 more source

Unilateral Pseudo-Double Side-by-Side Lined Macular Neovascularizations in Pathologic Myopia. [PDF]

Cureus
Hümaz E, Köksaldı S, Kayabaşı M, Saatci AO.   +3 more
europepmc   +1 more source

Using Catch Data to Estimate Changes in Global Commercial Abalone Abundance

Fisheries Management and Ecology, EarlyView.
ABSTRACT Changes in global wild capture production of abalone are explored to infer potential changes in biological stocks. The study found that 77% (or 10 out of the 13) of the countries that reportedly caught abalone in the wild have experienced declines in catches between 1980 and 2023, and on aggregate catch declined by almost 83% between 1980 and ...
Douglas Crookes
wiley   +1 more source

Pathologic myopia as a concurrent condition in Pierre Robin sequence: a case report and literature review. [PDF]

Front Med (Lausanne)
Liu Y, Zhang XY, Hu YY, Wen Y, Bi HS.
europepmc   +1 more source

Pathological Myopia [PDF]

, 2020
openaire   +1 more source

Beyond the Kidney and Lung: Cutaneous and Mucosal Clues to Human Hantavirus Disease

International Journal of Dermatology, EarlyView.
Rodent exposure and aerosolized excreta can lead to hantavirus infection with systemic endothelial injury and capillary leak, resulting in thrombocytopenia and syndromes such as HPS/HCPS and HFRS/NE. Early dermatologic and mucosal findings, including flushing, conjunctival injection, petechiae/purpura, and mucosal bleeding, may provide important clues ...
Giuseppe Gallo, Pietro Quaglino, Simone Ribero   +2 more
wiley   +1 more source