Results 181 to 190 of about 508,541 (277)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Chasing shadows: case series of six posterior segment manifestations of ocular tuberculosis. [PDF]

AME Case Rep
Faneli AC, Souza GM, Neto PFS, Finamor LP, Oliveira RDC, Muccioli C.   +5 more
europepmc   +1 more source

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

American Journal of Medical Genetics Part A, EarlyView.
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

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu, Shurui Huo, Wenguang Wang, Na Li, Qingwei Zeng, Xiaomei Sun, Jiejie Dai, Pinfen Tong, Yuanyuan Han, Ling Zhao, Caixia Lu   +10 more
wiley   +1 more source

Noninvasive 11.7-T Magnetic Resonance Spectroscopy and Imaging Reveals Retinal Metabolic Alterations Induced by Blue Light Exposure. [PDF]

NMR Biomed
Samoila L, Farcasanu A, Simon S, Bodoki E, Samoila O, Vostinaru O, Dinte E, Bodoki AE, Iudean D, Muresan C, Clichici S.   +10 more
europepmc   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Exploration of spontaneous brain activity abnormalities in high myopia patients using resting-state fMRI with multiparameter analysis. [PDF]

Front Neurol
Wang H, Wen H, Chen Q, Cui C.
europepmc   +1 more source

Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism

Annals of Neurology, EarlyView.
Objective Pre‐mortem diagnosis of parkinsonism is often challenging due to atypical presentations, overlapping syndromes, and co‐pathologies. This study aimed to develop a machine learning‐based algorithm predicting neuropathology in parkinsonism using chronological clinical presentations, which has previously been underexplored.
Daisuke Ono, Hiroaki Sekiya, Alexia R. Maier, Neill R. Graff‐Radford, Zbigniew K. Wszolek, Dennis W. Dickson   +5 more
wiley   +1 more source

Photocaged Oxytocin and Vasopressin Probes to Decipher Neuropeptide Signalling With High Spatiotemporal Resolution

Angewandte Chemie International Edition, EarlyView.
Novel and biocompatible photoactivatable oxytocin and vasopressin probes, utilising state‐of‐the‐art photocages, remain inactive in the dark. Light exposure facilitates rapid spatiotemporal receptor activation and phospholipase C (PLC)‐mediated downstream signalling. Figure created in https://BioRender.com.
Konstantin Raabe, Predrag Kalaba, Xuan Ling Hilary Yong, Greta Crudeli, Sarah Melzer, Erik Keimpema, Victor Anggono, Markus Muttenthaler   +7 more
wiley   +1 more source

Transcorneal electrical stimulation for the treatment of visual field defects in patients with open-angle glaucoma: a monocentric, randomised, double-masked, sham-controlled pilot study: the TES-GPS study protocol. [PDF]

BMJ Open
Lorenz K, Schuster A, Michel HM, Ruckes C, Kronfeld K, Schippert R, Stett A, Beck A.   +7 more
europepmc   +1 more source