Results 101 to 110 of about 17,518 (240)

Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes. [PDF]

Clin Epigenetics, 2023
Hara-Isono K, Matsubara K, Nakamura A, Sano S, Inoue T, Kawashima S, Fuke T, Yamazawa K, Fukami M, Ogata T, Kagami M.   +10 more
europepmc   +1 more source

Toward Capacitive In‐Memory‐Computing: A Device to Systems Level Perspective on the Future of Artificial Intelligence Hardware

Advanced Intelligent Discovery, EarlyView.
Capacitive, charge‐domain compute‐in‐memory (CIM) stores weights as capacitance,eliminating DC sneak paths and IR‐drop, yielding near‐zero standbypower. In this perspective, we present a device to systems level performance analysis of most promising architectures and predict apathway for upscaling capacitive CIM for sustainable edge computing ...
Kapil Bhardwaj, Ella Paasio, Sayani Majumdar   +2 more
wiley   +1 more source

Corrigendum to: Clinical spectrum and management of imprinting disorders. [PDF]

Med Genet, 2021
Elbracht M, Binder G, Hiort O, Kiewert C, Kratz C, Eggermann T.   +5 more
europepmc   +1 more source

Exploiting Ferroelectric and Spintronic Dynamics for Neural Network Computation

Advanced Intelligent Systems, EarlyView.
Ferroelectric and spintronic devices, relying on the control of polarization and magnetization, offer intrinsically fast, durable, energy‐efficient, and low‐latency building blocks for analog in‐memory computing. The hysteretic dynamics of an order parameter are leveraged to provide nonvolatile, multistate memory and nonlinear switching. Brain‐inspired
Dashiell Harrison, Kevin Nadaud, Josquin Harrison, Guillaume F. Nataf, Laura Bégon‐Lours   +4 more
wiley   +1 more source

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

Clinical Epigenetics
Background Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation.
Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer   +31 more
doaj   +1 more source

AI‐Assisted IoT‐Enabled ECG Monitoring: Integrating Foundational and Generative AI Tools for Sustainable Smart Healthcare—Recent Trends

AI &Innovation, EarlyView.
ABSTRACT The rapid evolution of the Internet of Things (IoT) has significantly advanced the field of electrocardiogram (ECG) monitoring, enabling real‐time, remote, and patient‐centric cardiac care. This paper presents a comprehensive survey of AI assisted IoT‐based ECG monitoring systems, focusing on the integration of emerging technologies such as ...
Amrita Choudhury, Kandarpa Kumar Sarma, Lachit Dutta   +2 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Culture-dependent decoupling of H19 allele-specific expression from H19/IGF2:IG-DMR methylation in experimental models

Epigenetics
Genomic imprinting is an epigenetic mechanism leading to the monoallelic expression of a subset of genes, mainly regulated by DNA methylation at imprinting control regions (ICRs).
Céline Selenou, Frédéric Brioude, Laure Sudre, Aurélie Pham, Irène Netchine, Marie-Laure Sobrier, Éloïse Giabicani   +6 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Genomic imprinting disorders in the structure of syndromic obesity in children

Ожирение и метаболизм
BACKGROUND. Genomic imprinting disorders represent a distinct class of hereditary diseases caused by disruption of the monoallelic expression of imprinted genes. Several of them are closely associated with obesity and metabolic disturbances.
O. V. Vasyukova, E. P. Atavina-Ermakova, E. G. Panchenko, D. A. Kopytina, O. A. Simonova, V. Y. Udalova, I. V. Kanivets, D. B. Akimova, M. Y. Skoblov, M. A. Andreeva, E. V. Nagaeva, N. G. Mokrysheva   +11 more
doaj   +1 more source