Results 141 to 150 of about 616,821 (255)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source

X Chromosome Segregation During Spermatogenesis in Auanema rhodensis XX Males

, 2020
During cell division, accurate segregation of chromosomes into two daughter cells is essential to avoid catastrophic consequences. Segregation of the sex chromosomes is particularly important, as it plays a primary role in sex determination. Furthermore,
Xu, Emily Ling
core  

Impact of donor mare and stallion identity on the likelihood of pregnancy after transfer of in vitro produced embryos

Equine Veterinary Journal, EarlyView.
Abstract Background The success of in vitro embryo production (IVEP) is influenced by donor mare and stallion. Objectives To determine whether donor mare and stallion influence the pregnancy rate after transfer of in vitro produced (IVP) blastocysts and to identify factors influencing the likelihood of obtaining one or more pregnancies from a single ...
M. Papas, T. A. E. Stout, J. C. M. Vernooij, B. Leemans, L. Arnold, M. M. Beitsma, L. I. Wijnands, M. de Ruijter‐Villani, S. Colleoni, G. Lazzari, C. Galli, A. Claes   +11 more
wiley   +1 more source

Declining centromere strength compromises meiotic chromosome segregation in aging oocytes. [PDF]

J Cell Biol
Lemonnier T, Dumont M, Leem J, Khan A, Yazdkhasti H, Zimyanin V, Khutsaidze A, Redemann S, Fachinetti D, Mogessie B.   +9 more
europepmc   +1 more source

A Multi‐Objective Periodic Vehicle Routing Model for Sustainable Healthcare Waste Collection

The International Journal of Health Planning and Management, EarlyView.
ABSTRACT The collection of infectious waste from healthcare facilities (HCF) constitutes a recurring operational challenge. Indeed, despite the inherent health risks posed by the storage and the transportation of infectious materials, most of the existing waste collection systems tends to prioritise cost optimization and to underaddress the safety ...
Hajer Ben‐Romdhane
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

CKS-1 and the choreography of meiotic chromosome segregation. [PDF]

J Cell Biol
Moghareh S, Bojorquez D, Lara-Gonzalez P.   +2 more
europepmc   +1 more source

Long‐Read Pan‐Cancer Transcriptomics Unravel Distinct Alteration Trends Between Gene and Isoform Expression in Tumorigenesis

iMetaMed, EarlyView.
Long‐read profiling of 144 tumor‐normal pairs identifies isoform‐level cancer dysregulation independent of gene changes. Our scoring system prioritizes isoform‐driven prognostic genes across cancers. ABSTRACT Tumorigenesis involves transcriptomic alterations at both gene and isoform levels.
Yuying Ding, Bo Wu, Dan Zhou, Qiang Li, Dingru Li, Mengyun Cai, Zhiyan Chen, Caimei Zhong, ChuanLe Xiao, Yuhua Deng   +9 more
wiley   +1 more source