Results 271 to 280 of about 692,450 (357)

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli, Germana Viscogliosi, Annabella Salerni, Emanuele Crincoli, Roberta Mattei, Tommaso Verdolotti, Serafina Antonella Loprete, Valentina Trevisan, Giovanni Antonio Marrocco, Alessia Cherubino, Lucrezia Perri, Roberta Onesimo, Giuseppe Zampino, Chiara Leoni   +13 more
wiley   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

Editorial: Computer vision and image synthesis for neurological applications. [PDF]

Front Comput Neurosci
Zou C, Roychowdhury S, Rasheed S, Ali R.
europepmc   +1 more source

‘I Don't Think I Would've Survived Without Having a Constant Support System’: Independent Living Skills Acquisition During the Transition From Care in Western Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT For care‐experienced young people, the preparation for leaving out‐of‐home care (OOHC) is vital in support of post‐OOHC outcomes. This research explores the acquisition of Independent Living Skills (ILS) amongst young people in Western Australia and is based on interviews with care‐experienced young people at two time points: while in OOHC and
Michael Starr, Donna Chung, Lauren Parsons, Reinie Cordier   +3 more
wiley   +1 more source

Erratum in: Accelerometer-Measured Daily Behaviors That Mediate the Association Between Refractive Status and Depressive Disorders. [PDF]

Transl Vis Sci Technol
europepmc   +1 more source

Developmental Eye Movement (DEM) Test in Adults: Age-Related Changes and Italian Normative Data. [PDF]

Vision (Basel)
Facchin A, Maffioletti S, Daini R.
europepmc   +1 more source

Application of humanized mice in the safety experiments of antibody drugs

Animal Models and Experimental Medicine, EarlyView.
The graphical abstract of this review highlights the critical role of humanized mice in the safety evaluation of antibody drugs. First, the inherent immunogenicity of antibody drugs can lead to the production of antidrug antibodies and hypersensitivity reactions on repeated administration.
Zhimin Sun, Mengyun Gu, Zixuan Yang, Lei Shi, Liyuan Zhao, Minhui Zheng, Yan Wang, Wei Zhang, Kexin Han, Naping Tang   +9 more
wiley   +1 more source

How bad can vision get in beta-thalassemia? A case report and review of the literature. [PDF]

BMC Ophthalmol
Azimi A, Zia Z.
europepmc   +1 more source

Prevention of vision disorders at school age: view of secondary school teachers on the problem

Y.G. Antypkin, А.Е. Абатуров, N.V. Medvedovska, L.I. Denysiuk, О.О. Miroshnikov, N.Yu. Bondarenko   +5 more
openalex   +1 more source

Astaxanthin ameliorates benzalkonium chloride–induced dry eye disease through suppressing inflammation and oxidative stress via Keap1‐Nrf2/HO‐1 signaling pathways

Animal Models and Experimental Medicine, EarlyView.
The flowchart of this research. Abstract Background Dry eye disease (DED) predominantly results from elevated tear film osmolarity, which can not only cause ocular inconvenience but may lead to visual impairments, severely compromising patient well‐being and exerting substantial economic burdens as well.
Ziyu Liu, Yaqiong Li, Jiayu Bao, Siyuan Li, Ya Wen, Peng Zhang, Jun Feng, Yinghui Wang, Lei Tian, Ying Jie   +9 more
wiley   +1 more source