Results 121 to 130 of about 91,462 (268)

Prevalence of Phelan McDermid Syndrome Estimated To Be ~1:7300 Using a Multisource Model

Autism Research, EarlyView.
ABSTRACT Estimating the prevalence of genetic disorders is complicated by many factors including sampling bias and differing methods of estimation. However, establishing the true prevalence of these disorders is critical for understanding disease burden, pharmacoeconomic modeling, and resource allocation for testing and care.
Tess Levy, David Lapidus, Kate Friedman, Paige Siper, Larry Glass, Liza Squires, Mary Hames, Joseph D. Buxbaum, Genetic Testing Consortium, Brooklynn Gasser, Meghan Towne, Behrang Mahjani, Seulgi Jung, Stuart Schwartz, Kai Lee Yap, Mindy Li, Avinash V. Dharmadhikari, Gordana Raca, Dolores B. Estrine, Stefanie Biller, Amanda Singleton, Sarah Poll, Alexander Kolevzon   +22 more
wiley   +1 more source

Neurovascular coupling in bone regeneration: Mechanisms, advanced biomaterials and challenges

BMEMat, EarlyView.
This figure illustrates various material strategies for neurovascularized bone regeneration, including electroactive scaffolds, ion‐loaded materials, drug delivery systems, surface modifications, cells/cell products, growth factors, and peptides. These approaches aim to synergistically promote the regeneration of neural, vascular, and bone tissues ...
Yixin Ma, Nan Jiang, Liyuan Chen, He Zhang, Xinjia Cai, Karan Gulati, Danqing He, Zhigang Cai, Yan Liu   +8 more
wiley   +1 more source

Oocyte–cumulus cell interaction: a key factor in early embryo development

Biological Reviews, EarlyView.
ABSTRACT The evaluation of oocyte competence is a fundamental step in achieving successful outcomes following assisted reproduction techniques (ART). At present, however, conventional oocyte maturation assessment is carried out by morphological observation, which is a subjective method that does not consider molecular features.
Marc Torres‐Garrido, Marc Yeste, Yentel Mateo‐Otero   +2 more
wiley   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Dynamics of Heparin Translocations Through Solid‐State Nanopores

ELECTROPHORESIS, EarlyView.
Carbohydrates can be detected with solid‐state nanopores, but their kinetics of voltage‐driven passage are fast. To better understand the dynamics of passage of these biomolecules and the role of electrophoresis and electroosmosis, we studied the translocation characteristics of heparin as a function of salt concentration, pH and voltage polarity ...
Kexin Zhao, Matthew Waugh, Kyle Briggs, Mohammad P. Jamshidi, Janelle Sauvageau, Vincent Tabard‐Cossa   +5 more
wiley   +1 more source

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta, Giulia Bruschi, Tania Giangregorio, Carlotta Stipa, Elisa Mannini, Raffaella Minardi, Barbara Mostacci, Valentina Tontini, Tommaso Pippucci, Francesca Bisulli, Pamela Magini   +10 more
wiley   +1 more source

WONOEP appraisal: Biomarkers and treatment strategies beyond the synapse

Epilepsia, EarlyView.
Abstract Epilepsy is a heterogeneous neurological disorder affecting more than 70 million people worldwide, posing significant challenges for clinicians due to its complex etiology, diverse manifestations, variable treatment responses, and the inability to predict seizures or disease onset reliably.
Mirte Scheper, Zining Liu, Aristea S. Galanopoulou, Gernot Hlauschek, Benjamin Sinclair, Wai Lam Leung, Stefanie Dedeurwaerdere, Elisabeth Doran, Solomon L. Moshé, David C. Henshall, Ozlem Akman, Pablo M. Casillas‐Espinosa   +11 more
wiley   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

A Case Highlighting the Importance of Timely Intervention for a Male With AZFb + c Microdeletion. [PDF]

Case Rep Genet
Atodaria R, Abdelmasih R.
europepmc   +1 more source

Transcriptional signatures of cortical morphometric variability in temporal lobe epilepsy

Epilepsia Open, EarlyView.
Abstract Objective Widespread cognitive deficits in temporal lobe epilepsy (TLE) are associated with macroscale brain structural changes. However, the correlation between the changes in the cortical morphological similarity of the TLE and gene expression remains unclear.
Yaping Dong, Shuai Wang, Jingjie Luo, Juan Meng, Yuanmei Liu, Song Zhang   +5 more
wiley   +1 more source