Results 51 to 60 of about 11,896 (240)

3D Hydrogel Cell Cultures and Their Biomedical Applications

Advanced NanoBiomed Research, EarlyView.
The review highlights the advantages of hydrogel‐based 3D cell cultures over traditional 2D models. These hydrogels closely mimic natural cellular environments, improving research in tissue engineering, drug discovery, cancer studies, and neuroscience.
Tri Lan Thai, Arushi Manchanda, Sarah L. Higginbottom, Estrella Sanz Rodriguez, Richard Wilson, Eva Tomaskovic‐Crook, Jeremy M. Crook, Brett Paull   +7 more
wiley   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

The Postnatal outcomES of Fetal Cortical mAlformations (PESCA) Study: A Multicentre Historical Cohort Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objectives To provide further evidence on the outcomes associated with fetal malformations of cortical development (MCD), currently informed by data from symptomatic paediatric cohorts, this study provides a new classification system. Design Multicentre retrospective cohort study.
Natalia Abadia‐Cuchi, Francesca Felici, Sophie Arulkumaran, Faraan Khan, Paolo Frassanito, Andrea Dall'Asta, Elvira di Pasquo, Elisa Bevilacqua, Amarnath Bhide, Tullio Ghi, Matia Martucci, Simona Gaudino, Basky Thilaganathan, Alessandra Familiari   +13 more
wiley   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

Frontiers in Genetics, 2018
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred.
Sara M. Blazejewski, Sarah A. Bennison, Trevor H. Smith, Kazuhito Toyo-oka   +3 more
doaj   +1 more source

Dandy-Walker malformation: is the "tail sign" the key sign? [PDF]

, 2015
OBJECTIVE.To demonstrate the value of the "tail sign" in the assessment of Dandy-Walker Malformation (DWM). METHODS: A total of 31fetal MRI, performed before 24 weeks of gestation after second-line US examination between May 2013 and September 2014 ...
Aliberti, C, Bernardo, Silvia, Giancotti, Antonella, Manganaro, Lucia, Porpora, Maria Grazia, Rizzo, G, Saldari, Matteo, Servadei, F, Silvestri, E, Triulzi, F, Vinci, Valeria   +10 more
core   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

Molecular genetics of intellectual disability [PDF]

, 2012
The goal of this chapter is to review the current knowledge of the genetic causes of intellectual disability, focusing on alterations at the chromosomal and single gene level, with particular mention to the new technological developments, including ...
Bessa, C., Lopes, Fátima, Maciel, P.
core   +2 more sources

The Baraitser–Winter Cerebrofrontofacial Syndrome Recurrent R196H Variant in Cytoplasmic β‐Actin Impairs Its Cellular Polymerization and Stability

The FASEB Journal, Volume 40, Issue 1, 15 January 2026.
BWCFF, a severe disease with neurological symptoms, is caused by mutations in the cytoskeletal actin genes. Patient‐derived fibroblasts carrying the R196H β‐actin mutation were compared to wild type cells. The mutant cells displayed slower proliferation and migration and a lower F‐actin content, which correlated with reduced cell stiffness ...
Éva Gráczer, Elena Battirossi, Tamás Bozó, Áron Gellért Altorjay, Katalin Pászty, Laura Harsányi, Johannes N. Greve, Irene Pertici, Massimo Reconditi, Nataliya Di Donato, Miklós Kellermayer, Pasquale Bianco, Andrea Varga   +12 more
wiley   +1 more source

A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

Clinical Case Reports, 2021
Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.
Claire Balza, Giulia Garofalo, Teresa Cos, Julie Désir, Xin Kang, Kathelijn Keymolen, Julie Soblet, Kim Van Berkel, Catheline Vilain, Wafa Ben Abbou, Marie Cassart   +10 more
doaj   +1 more source