Results 131 to 140 of about 42,051 (253)

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, Volume 110, Issue 3, Page 369-373, September 2026.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Treatment of high myopia/myopic astigmatism with a combination of WaveLight Contoura with LYRA protocol and wavefront-optimized treatment

, 2018
Manoj Motwani Motwani LASIK Institute, San Diego, CA, USA Purpose: The aim of this article was to demonstrate how WaveLight Contoura and wavefront optimization (WFO) can be used together to treat high myopia/myopic astigmatism corrections.
Motwani M
core  

Management of irregular astigmatism

, 2000
Using a liberal definition of corneal irregularity, modern videokeratoscopy may define approximately 40% of normal corneas with a toric refractive error as possessing primary irregular astigmatism.
Goggin, M., Alpins, N., Schmid, L.
core   +1 more source

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
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

ASTIGMATISM IN INDIANS [PDF]

British Journal of Ophthalmology, 1947
openaire   +2 more sources

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, Volume 110, Issue 3, Page 325-335, September 2026.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Paired Opposite Clear Corneal Incision in Cataract Patients with Different Types of Astigmatism

Clinical Ophthalmology
Mehmet Icoz,1,* Ozlem Aktas Ozaltun2,* 1Department of Ophthalmology, Yozgat City Hospital, Yozgat, Turkey; 2Department of Ophthalmology, Karabük Training and Research Hospital, Karabuk, Turkey*These authors contributed equally to ...
Icoz M, Aktas Ozaltun O
doaj  

Quantitative evaluation of LED‐based optical autofocus module

Journal of Microscopy, Volume 303, Issue 3, Page 277-288, September 2026.
Abstract We report an improved version of the open‐source optical autofocus (OAF) module (openAF) for light microscopy, replacing the superluminescent diode (SLD) with a multimode‐optical fibre‐coupled LED as a more accessible AF module light source. We also present a method for independently quantifying AF system performance using 2D autocorrelation ...
S. Habte, S. Kumar, J. Lightley, E. Garcia, M. A. A. Neil, P. M. W. French   +5 more
wiley   +1 more source

A novel nomogram for the treatment of astigmatism with femtosecond-laser arcuate incisions at the time of cataract surgery

, 2017
Connor J Baharozian,1 Christian Song,2,3 Kathryn M Hatch,2,3 Jonathan H Talamo2,3 1Boston University School of Medicine, 2Massachusetts Eye and Ear Infirmary, 3Department of Ophthalmology, Harvard Medical School, Boston, MA, USA Purpose: The purpose of
Hatch KM, Baharozian CJ, Song C, Talamo JH   +3 more
core  

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, Volume 111, Issue 9, Page 4140-4152, 1 September 2026.
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