Results 81 to 90 of about 30,062 (169)

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

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Selective suture cutting for control of astigmatism following cataract surgery

Indian Journal of Ophthalmology, 1992
Use of 10-0 monofilament nylon in ECCE cataract surgery leads to high with the rule astigmatism. Many intraoperative and post operative methods have been used to minimise post operative astigmatism.
Bansal R, Gupta Amod, Grewal SPS
doaj  

Comparison of ocular residual astigmatism between children with clinically significant and non-significant astigmatism

BMC Ophthalmology
Purpose To compare the difference of ocular residual astigmatism (ORA) in children with clinically significant astigmatism and non-significant astigmatism. Methods This is a cross-sectional study. Participants were divided into the clinically significant
Jian Lin, Dexiang An, Jun Zhu, Dongmei Yan   +3 more
doaj   +1 more source

Convergent‐beam X‐ray crystallography

Journal of Applied Crystallography, Volume 59, Issue 4, Page 1200-1218, August 2026.
Molecular crystal diffraction with a highly focused X‐ray beam decouples crystal morphology and molecular structure by measuring magnified topographs from every reflection.Molecular and polymeric crystals show a wide range of functional properties that arise from the interplay between the atomic‐scale structure of their constituent molecules and the ...
Chufeng Li, Margarita Zakharova, Mauro Prasciolu, Jia Chyi Wong, Holger Fleckenstein, Nikolay Ivanov, Wenhui Zhang, Mansi Butola, J. Lukas Dresselhaus, Ivan De Gennaro Aquino, Dmitry Egorov, Philipp Middendorf, Alessa Henkel, Bjarne Klopprogge, Lars Klemeyer, Tobias Beck, Oleksandr Yefanov, Miriam Barthelmess, Janina Sprenger, Dominik Oberthuer, Saša Bajt, Henry N. Chapman   +21 more
wiley   +1 more source

LowDoseWizard: rapid and standardized setup of low‐dose cryo‐TEM imaging in SerialEM

Acta Crystallographica Section D, Volume 82, Issue 8, Page 990-997, August 2026.
LowDoseWizard is a guided SerialEM workflow for rapid and standardized setup of low‐dose cryo‐TEM imaging conditions for single‐particle analysis and cryo‐electron tomography.Structure elucidation of biological macromolecules by single‐particle cryogenic electron microscopy (SPA cryo‐EM) or cryogenic electron tomography (cryo‐ET) relies on low‐dose ...
Simon A. Fromm, Simone Mattei
wiley   +1 more source

An unattended image‐processing pipeline for on‐the‐fly quality assessment and 3D exploration in cryo‐EM

Acta Crystallographica Section D, Volume 82, Issue 8, Page 915-939, August 2026.
We present a fully automated, unattended cryo‐EM pipeline that serves as an on‐the‐fly diagnostic tool, enabling rapid data‐quality assessment and informed decision‐making to maximize data‐collection efficiency.Single‐particle analysis (SPA) by cryogenic electron microscopy (cryo‐EM) has become a cornerstone of structural biology; yet, the workflow ...
Daniel Marchán Torres, Pablo Conesa, Alberto Garcia, Mikel Iceta, Ludovic Broche, Marcos Gragera, Romain Linares, Hok Sau Kwong, Francisco Javier Chichón, Olof Svensson, Rocío Arranz, Grégory Effantin, Eaazhisai Kandiah, José María Carazo, Carlos O. S. Sorzano   +14 more
wiley   +1 more source

Corneal power modelling with OCT data – Thin and thick lens paraxial models versus raytracing

Acta Ophthalmologica, Volume 104, Issue 5, Page 498-509, August 2026.
Abstract Background Evaluating keratometric power with Zeiss index (PKZ), paraxial thick cornea power (Gullstrand [PG]) and power referenced to the front (PFV) and back vertex plane (PBV) and raytracing power (PR), and modelling the deviation from PKZ with a multivariable linear prediction model.
Achim Langenbucher, Nóra Szentmáry, Alan Cayless, Peter Hoffmann, Jascha Wendelstein   +4 more
wiley   +1 more source

Astigmatic changes after Descemet membrane endothelial keratoplasty (DMEK) in decompensated penetrating keratoplasty grafts

Acta Ophthalmologica, Volume 104, Issue 5, Page e516-e529, August 2026.
Abstract Purpose To evaluate the surgery‐induced changes of astigmatism after Descemet membrane endothelial keratoplasty (DMEK) in eyes with failed previous penetrating keratoplasty (PK). Design Retrospective, interventional cohort study based on prospective DMEK database.
Florian Thomas Steinberg, Jithmi Weliwitage, Marie von Berg, Silvia Schrittenlocher, Simona Schlereth, Claus Cursiefen, Björn Bachmann   +6 more
wiley   +1 more source

Changes in choroidal and retinal thickness 6 months before and during 18 months of orthokeratology lens treatment in myopic children

Acta Ophthalmologica, Volume 104, Issue 5, Page e578-e589, August 2026.
Abstract Purpose To investigate changes in choroidal and retinal thickness before and during myopia control treatment with orthokeratology lenses (OKL) in myopic children. Methods This was a sub‐study of CONTROL and CONTROL2 studies. The present study was a 2‐year, prospective, single‐group interventional study consisting of a 6‐month pre‐treatment ...
P. O. Hansen, F. Møller, T. M. Jakobsen
wiley   +1 more source