Results 141 to 150 of about 448,808 (241)

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Clinical characterization of CCT2 and its role in autophagy regulation during age-related macular degeneration. [PDF]

Sci Rep
Wang L, Wang LX, Li MY, Zhang R, Zhou GH.   +4 more
europepmc   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Synthesis and Characterization of Photoswitchable Covalent Ligands for the β2‐Adrenoceptor

Angewandte Chemie, EarlyView.
A structure‐based design of a covalent photoswitchable ligand for the β2‐adrenergic receptor, a therapeutically relevant GPCR, is described. This tool facilitates the modification of the intrinsic activity of the protein by light. Computational analysis of its mechanism of action suggests that the photoswitch takes place within the binding pocket ...
Ulrike Wirth, Eduard Neu, Davide Provasi, Steffen Feustel, Maximilian F. Schmidt, Harald Hübner, Dorothée Weikert, Marta Filizola, Burkhard König, Peter Gmeiner   +9 more
wiley   +2 more sources

Cognitive function and retinal biomarkers as novel approach to diagnosing and assessing autism spectrum disorder. [PDF]

Sci Rep
Al-Mazidi S, Alhowikan A, Elamin N, Abualnaja A, Al-Mnaizel A, Alharbi T, Al-Ayadhi L.   +6 more
europepmc   +1 more source

Angioma of Retina [PDF]

Proceedings of the Royal Society of Medicine, 1919
openaire   +3 more sources

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Exploration of the visual streak of the Mongolian gerbil as a model for the human central retina. [PDF]

Front Med (Lausanne)
Günter A, Jarboui MA, Mühlfriedel R, Seeliger MW.   +3 more
europepmc   +1 more source

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine Lambert, Cairbre Fanslow, Alexander Robertson, Juan C. Zenteno   +6 more
wiley   +1 more source

A pilot study of intraoperative melphalan to prevent recurrent PVR: the IOMPVR study. [PDF]

Int J Retina Vitreous
Moreira-Neto CA, Pulido JS, Gonçalves LBM, Cavalcanti GN, Lima AS, Neto JPB, Lavinsky D, de Oliveira TVF, Ogata FE, Ribeiro LZ, Teixeira LF, do Nascimento FBG, Lima LH, Magalhães OJ, Farah ME, Maia M.   +15 more
europepmc   +1 more source