Results 91 to 100 of about 1,033,771 (354)

A global disorder of imprinting in the human female germ line [PDF]

, 2002
Imprinted genes are expressed differently depending on whether they are carried by a chromosome of maternal or paternal origin. Correct imprinting is established by germline-specific modifications; failure of this process underlies several inherited ...
A Kerjean, BE Hayward, BE Hayward, BE Hayward, Bruce E. Hayward, D Bourc’his, David T. Bonthron, Eamonn Sheridan, Hannah Judson, J Liu, J Liu, JS Sutcliffe, K Buiting, L Strain, M Kamiya, MN Helwani, MP Lee, NJ Smilinich, O El-Maarri, R Shemer, RA Fisher, RJ Gardner, S Engemann, SJ Clark, SK Murphy, T Kajii, T Kaneko-Ishino, T Ohta, W Reik, W Reik, YB Moglabey   +30 more
core   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Estimation of Genetic Parameters and Prediction for Body Weight of Angus Cattle

Agriculture
With the growing global population, the demand for beef is increasing, making the genetic improvement of beef cattle crucial for sustainable production.
Xiaofang Feng, Yu Wang, Jie Zhao, Qiufei Jiang, Yafei Chen, Yaling Gu, Penghui Guo, Juanshan Zheng   +7 more
doaj   +1 more source

A mediation approach to understanding socio-economic inequalities in maternal health-seeking behaviours in Egypt. [PDF]

, 2015
BACKGROUND: The levels and origins of socio-economic inequalities in health-seeking behaviours in Egypt are poorly understood. This paper assesses the levels of health-seeking behaviours related to maternal care (antenatal care [ANC] and facility ...
A Singh-Manoux, A Skrondal, AJD Barros, AM Basu, B Galobardes, C Marston, CG Victora, CK Stanton, D Filmer, D McKenzie, DJ Bartholomew, DJ Corsi, DM Hafeman, F El-Zanaty, F Tabassum, George B Ploubidis, H Gowayed, J Cleland, J Falkingham, JN Hobcraft, JT Boerma, KH Nada, L Ashford, L Benova, L Howe, L Liu, Lenka Benova, M Lidelow, NE Adler, O Campbell, O Campbell, Oona MR Campbell, R Gipson, R Hicks, S Ahmed, S Devi, S Gabrysch, S Rutstein, T Kabakian-Khasholian, T Stowasser, TA Houweling, The World Bank, TP Eisele, TR Have Ten, World Health Organization, World Health Organization   +45 more
core   +2 more sources

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Building a Framework for Sexual and Reproductive Health Care in the Rheumatology Context: Content and Approaches

Arthritis Care &Research, EarlyView.
People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley   +1 more source

Alterations in immunoglobulin levels in uninfected children born to HIV infected women [PDF]

, 2008
Background Immunoglobulin levels are known to be elevated in HIV infected children. However, little is known about the effect of maternal HIV infection and the maternal altered immune system on immunoglobulin levels in uninfected children. As few data
Bunders, M., Kuijpers, T., Newell, M-L, Pembrey, L.   +3 more
core  

Real‐World Trends in Prenatal Antirheumatic Drug Utilization in Ontario, Canada: A Cross‐Sectional Time‐Series Analysis

Arthritis Care &Research, EarlyView.
Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah, Swaleh Hussain, Sara J. T. Guilcher, Lisa M. McCarthy, Dharini Mahendira, Howard Berger, Mina Tadrous   +6 more
wiley   +1 more source