Results 41 to 50 of about 51,161 (263)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Bilateral methamphetamine-induced ischemic retinopathy

American Journal of Ophthalmology Case Reports, 2019
Purpose: To describe the multimodal imaging and treatment of a 37-year-old male presenting with bilateral ischemic retinopathy induced by methamphetamine abuse.
Jingli Guo, Wenyi Tang, Wei Liu, Yongjin Zhang, Ling Wang, Wenji Wang   +5 more
doaj   +1 more source

High-pH reversed-phase fractionated neural retina proteome of normal growing C57BL/6 mouse

Scientific Data, 2021
Measurement(s) retina Technology Type(s) mass spectrometry Sample Characteristic - Organism Mus musculus Machine-accessible metadata file describing the reported data: https://doi.org/10.6084/m9.figshare ...
Ying Hon Sze, Qian Zhao, Jimmy Ka Wai Cheung, King Kit Li, Dennis Yan Yin Tse, Chi Ho To, Thomas Chuen Lam   +6 more
doaj   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Axial elongation among Hong Kong myopic children and adolescents wearing single vision spectacles from a clinical setting

Scientific Reports
This retrospective cohort study investigates axial elongation in myopic children and adolescents wearing single vision spectacles, before and after the availability of proven myopia control spectacles.
Kryshell Yu Qi Wong, Rachel Ka Man Chun, Andrew Kwok Cheung Lam   +2 more
doaj   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Long-term myopia control effect and safety in children wearing DIMS spectacle lenses for 6 years

Scientific Reports, 2023
This study evaluated the long-term myopia control effect and safety in children wearing Defocus Incorporated Multiple Segments (DIMS) spectacle lenses.
Carly Siu Yin Lam, Wing Chun Tang, Han Yu Zhang, Paul H. Lee, Dennis Yan Yin Tse, Hua Qi, Natalia Vlasak, Chi Ho To   +7 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

A comparative study of extended depth of focus, bifocal intraocular lenses and their mix-and-match [PDF]

International Journal of Ophthalmology
AIM: To compare the visual performances of extended depth of focus (EDOF) lenses, diffractive bifocal intraocular lenses (IOLs) and their combination. METHODS: This was a prospective, consecutive observational comparative study performed from Dec 2020 to
Fan Fan, Xi-Yue Zhou, Jia-Ning Yang, Xin Liu, Yi Luo   +4 more
doaj   +1 more source

The role of astigmatism in myopia development, myopia progression and myopia control

Ophthalmic and Physiological Optics
Abstract Aims/Purpose Myopia arises primarily due to excessive axial elongation and is associated with an increased risk of ocular complications and visual impairment, particularly in high myopia.
Stephanie Kearney, Rakhee Shah, Natalia Vlasak   +2 more
openaire   +4 more sources