Results 71 to 80 of about 15,327 (185)

How blinding is pathological myopia? [PDF]

British Journal of Ophthalmology, 2006
The risks of visual loss in myopia are sufficiently high to warrant measures to prevent pathological ...
openaire   +2 more sources

Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome

Clinical Genetics, EarlyView.
Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest, Annelies E. van der Hulst, Gerard Pals, Lidiia Zhytnik, Lillian Lai, Caroline Jacquemart, Lindsay Mills, Michiel Houben, Petr Jira, Bert L. Lunshof, Jessica Warnink‐Kavelaars, Vivian de Waard, Leonie A. Menke   +12 more
wiley   +1 more source

Updates on Myopia [PDF]

This book is open access under a CC BY 4.0 license. This open access book discusses basic clinical concepts of myopia, prevention of progression and surgical treatments for myopia and pathological myopia.

core   +1 more source

CDK13‐Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

Clinical Genetics, EarlyView.
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò, Maria Chiara Baroni, Stefano Giuseppe Caraffi, Manuela Napoli, Rosangela Artuso, Annarita Giliberti, Sara Bargiacchi, Giorgia Mancano, Giovanna Traficante, Mafalda Mucciolo, Francesca Clementina Radio, Viviana Cordeddu, Cecilia Mancini, Irene Bottillo, Federica Anna Pirro, Maria Teresa Bonati, Cord‐Christian Becker, Diana Carli, Alessandro Mussa, Maria Isis Atallah Gonzalez, Inge Lore Ruiz‐Arana, Camille Kumps, Isabelle Maystadt, Stephanie Moortgat, Alp Peker, Maria Piccione, Paola Grammatico, Nino Rostomashvili, Jonathan Lévy, Marcello Scala, Valeria Capra, Annalaura Torella, Clare van Eyk, Bertrand Isidor, Benjamin Cogne, Siddharth Srivastava, Aisling Quinlan, Alessandro Vaisfeld, Laura Licchetta, Daniele Frattini, Claudio Graziano, Giulia Severi, Isabelle Bacchi, Luca Soliani, Elliott H. Sherr, Emanuela Argilli, Himanshu Goel, Chiara De Luca, Silvia Leonardi, Francesco Brancati, Flavio Faletra, Catia Mio, Silvia Braibanti, Giancarlo Gargano, Carlo Fusco, Antonio Novelli, Marco Tartaglia, Livia Garavelli   +57 more
wiley   +1 more source

Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study [PDF]

Myopia-26, a Mendelian form of early-onset high-myopia (eoHM) caused by mutations in the X-chromosomal ARR3 gene and predominantly affecting females, curiously, may provide an alternative route of investigation to unveil retinal mechanisms underlying ...
Barboni Mirella T. S., Fehér Tamás, Kalmár Tibor, Maróti Zoltán, Nagy István, Sohajda Zoltán, Széll Noémi   +6 more
core   +1 more source

Differences in anterior peripheral pathologic myopia and macular pathologic myopia by age and gender [PDF]

Graefe's Archive for Clinical and Experimental Ophthalmology, 2021
Cassie A. Ludwig, Nick Boucher, Namrata Saroj, Darius M. Moshfeghi   +3 more
openaire   +2 more sources

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

Clinical Genetics, EarlyView.
Synonymous variants previously reported as benign present a diagnostic challenge in clinical exome sequencing. We show three cases where RNA studies demonstrated aberrant splicing and enabled reclassification of the variants. ABSTRACT Synonymous variants can significantly impact protein levels and function, particularly through alterations in RNA ...
Adina Fuchs, Inbar Kobal, Dov Popper, Shay Porat, Joshua I. Rosenbloom, Mordechai Slae, Shira Yanovsky Dagan, Vardiella Meiner, Vered Molho‐Pessach, Hagit Daum, Tamar Harel   +10 more
wiley   +1 more source

Intravitreal ranibizumab (Lucentis®) for the treatment of myopic choroidal neovascularization [PDF]

, 2018
Background: Macular choroidal neovascularization (CNV) is one of the most vision-threatening complications of myopia, which can lead to severe vision loss.
Ambresin, Aude, Konstantinidis, Lazaros, Mantel, Irmela, Pournaras, Jean-Antoine, Zografos, Leonidas   +4 more
core  

Lactate and Lactylation in AKI‐to‐CKD: Epigenetic Regulation and Therapeutic Opportunities

Cell Proliferation, EarlyView.
ABSTRACT Lactate is not only a byproduct of glycolysis, but is also considered an energy source, gluconeogenic precursor, signalling molecule and protein modifier during the process of cellular metabolism. The discovery of lactylation reveals the multifaceted functions of lactate in cellular metabolism and opens new avenues for lactate‐related research.
Yi Hou, Dongwei Liu, Zuishuang Guo, Cien Wei, Fengyu Cao, Yue Xu, Qi Feng, Fengxun Liu   +7 more
wiley   +1 more source

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis

Journal of Diabetes Investigation, EarlyView.
We present a report on SHORT syndrome caused by PIK3R1 mutations, including findings from in silico analysis. Our results demonstrate that these mutations impair the ability of p85α to interact with phosphopeptides. ABSTRACT Aims/Introduction Phosphatidylinositol 3‐kinase (PI3K) plays a key role in insulin signaling, and mutations in PIK3R1, which ...
Tomofumi Takayoshi, Yushi Hirota, Aki Sugano, Kenji Sugawara, Takehito Takeuchi, Mika Ohta, Kai Yoshimura, Seiji Nishikage, Akane Yamamoto, Yu Mimura, Shinji Higuchi, Jun Mori, Rie Kawakita, Tohru Yorifuji, Yutaka Takaoka, Wataru Ogawa   +15 more
wiley   +1 more source