Results 71 to 80 of about 13,274 (216)

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Evaluation of Corneal Higher-Order Aberrations by Scheimpflug–Placido Topography in Patients with Different Refractive Errors: A Retrospective Observational Study

Journal of Ophthalmology, 2019
Purpose. To report the characteristics of anterior and posterior corneal high-order aberrations in patients with different refractive errors. Setting. This study was conducted at Sohag Refractive Center, Sohag, Egypt. Design.
Mohamed Anbar, Engy Mohamed Mostafa, Ashraf Mostafa Elhawary, Islam Awny, Mahmoud Mohamed Farouk, Amr Mounir   +5 more
doaj   +1 more source

Toric intraocular lenses for correction of astigmatism in keratoconus and after corneal surgery [PDF]

, 2016
Purpose: To describe the results of cataract extraction with toric intraocular lens (IOL) implantation in patients with preexisting astigmatism from three corneal conditions (keratoconus, postkeratoplasty, and postpterygium surgery).
Dooren, B.T.H. (Bart) van, Mol, I.E.M.A. (Ilse E. M. A.)   +1 more
core   +2 more sources

Effect of artificial gravity on calcaneal bone marrow adipose tissue and mineral content in female and male participants in 60 days of bed rest

Experimental Physiology, EarlyView.
Abstract Modulation of bone marrow adipose tissue (BMAT) with prolonged inactivity was reported in haemopoietic but not in non‐haemopoietic bones. This prospective randomized controlled trial submitted 16 men and 8 women to 60 days of 6° head‐down‐tilt bed rest.
Tammy Liu, Gerd Melkus, Tim Ramsay, Alain Berthiaume, Gabriele Armbrecht, Guy Trudel   +5 more
wiley   +1 more source

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations [PDF]

, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified.
AL Jarmas, Angela F Brady, Anthony T Moore, Barbara Mikat, BJ Lee, C Limwongse, C Prattichizzo, CG Woods, Christine Coubes, D Abuelo, DA Custer, Dagmar Wieczorek, Denise Williams, EG Puffenberger, F Hazan, FC Connell, Filiz Hazan, Fiona C Connell, Florence Petit, Gabriela E Jones, Glen Brice, GM Abdel-Salam, H Dolk, I Casteels, ID Young, Isabel Spier, KM Trzupek, Kristiana Gordon, LO Atchaneeyasakul, M Baraitser, M Feingold, N Pastora, Oana Moldovan, Oliver Quarrell, P Ostergaard, PC Vasudevan, Peter S Mortimer, Pia Ostergaard, Pradeep C Vasudevan, Q Zhao, R Hordijk, RM Winter, Robert A Saul, S Eventov-Friedman, S Strenge, Sahar Mansour, Steve Jeffery, VA McKusick, WF Milroy   +48 more
core   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Pentacam versus anterior segment OCT in measuring intended versus achieved ablation depth post-myopic LASIK correction

Beni-Suef University Journal of Basic and Applied Sciences, 2022
Background Accurate quantitative measurements of central corneal thickness (CCT) provide valuable, clinical information for preoperative assessment, surgical planning, and follow-up in myopic patients who have undergone LASIK correction.
Hossam-Eldin Mohammed Ahmad Khalil, Khaled Abd-Elaziz Abd-Elhafiz, Abdulaziz Kamal Ibrahim   +2 more
doaj   +1 more source

Astigmatism and Pseudoaccommodation in Pseudophakic Eyes [PDF]

, 2010
noAdvanced IOLs with circumferential zones of different power provide pseudoaccommodation. We investigated the potential for power variation with meridian, namely astigmatism, to provide pseudo-accommodation. With appropriate power and axis orientations,
Chisholm, Catharine M., Cox, Michael J., Serra, Pedro M.F.N.   +2 more
core  

Emerging Technologies for the Management and Mitigation of Myopia Progression: A Scoping Review

Health Science Reports, Volume 9, Issue 5, May 2026.
ABSTRACT Background and Aims Currently, myopia affects approximately 1,406 million individuals, representing 22.9% of the global population. Emerging technologies are transforming eye care by providing innovative approaches to address the global challenge of myopia progression.
Kingsley Ekemiri, Khathutshelo Percy Mashige, Diane B. van Staden, Katie Connolly, Okechi Ulumma Amaechi, Esther Daniel, Tiwabwork Tekalign   +6 more
wiley   +1 more source

Femtosecond laser-assisted sub-Bowman keratomileusis versus laser-assisted subepithelial keratomileusis to correct myopic astigmatism

Journal of Optometry, 2018
Purpose: To compare femtosecond laser-assisted sub-Bowman keratomileusis (FSBK) versus laser-assisted subepithelial keratomileusis (LASEK) to correct moderate to high myopic astigmatism.
Juan Gros-Otero, Montserrat Garcia-Gonzalez, Miguel A. Teus, MariLuz Iglesias-Iglesias, Carlos Gimenez-Vallejo   +4 more
doaj   +1 more source