Results 241 to 250 of about 145,893 (342)

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

Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis. [PDF]

Int J Mol Sci
Dermitzaki N, Serbis A, Baltogianni M, Gialamprinou D, Giaprou LE, Kosmeri C, Giapros V.   +6 more
europepmc   +1 more source

Glenoid hypoplasia.

JBR-BTR : organe de la Societe royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie (KBVR), 2003
Vanhoenacker, Filip, van de Perre, S., de Schepper, Arthur   +2 more
openaire   +2 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, EarlyView.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +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

Concentric macular rings and OCT corrugations in foveal hypoplasia: proof of concept for an optical interference mechanism. [PDF]

Int J Retina Vitreous
August AH, Eagle RC, Milman T, Procopio R, Schnall BM, Pulido JS.   +5 more
europepmc   +1 more source

Value of ultra‐high‐field MRI in patients with drug‐resistant focal epilepsy and negative 3T MRI (EpiUltraStudy): Diagnostic gain of 7T structural analysis

Epilepsia, EarlyView.
Abstract Objective Resective epilepsy surgery is an evidence‐based treatment option for patients with focal drug‐resistant epilepsy (DRE). Seizure outcome after surgery is largely dependent on detection and delineation of an epileptogenic lesion on magnetic resonance imaging (MRI). However, detection fails in 30% of patients at 3 Tesla (T) MRI, thereby
Rick H. G. J. van Lanen, Daniel Uher, Christianne M. C. Hoeberigs, Paul A. M. Hofman, Remco Santegoeds, Christopher Wiggins, Desmond H. Y. Tse, Esther G. M. Steijvers, Jacobus F. A. Jansen, Gerald S. Drenthen, Alard Roebroeck, Dimo Ivanov, Benedikt A. Poser, Sander M. J. van Kuijk, Govert Hoogland, Kim Rijkers, Louis G. L. Wagner, Guido Widman, Jan Beckervordersandforth, Sylvia Klinkenberg, Rob P. W. Rouhl, Daniel Delev, Hans Clusmann, Stefan Wolking, Yvonne Weber, Laurien K. Dhaenens‐Meyer, Elisabeth Schriewer, Alfred Meurs, Katrien Jansen, Tom Theys, Wim van Paesschen, Dirk van Roost, Walter H. Backes, Albert J. Colon, Olaf E. M. G. Schijns, on behalf of the ACE Epilepsy Surgery group, Gwendolyn de Bruyn, Albert Colon, Jim Dings, Marc Hendriks, Danny Hilkman, Christianne Hoeberigs, Jochem van der Pol, Lotte de Jong, Kim Rijkers, Sylvia Klinkenberg, Vivianne van Kranen Mastenbroek, Jeske Nelissen, Pieter Kubben, Walter M. Palm, Rob P. W. Rouhl, Olaf Schijns, Simon Tousseyn, Marielle Vlooswijk, Louis Wagner, Dorien Weckhuysen, Ilse van Straaten   +56 more
wiley   +1 more source

Risks and Benefits of Vesicoamniotic Shunting for Lower Urinary Tract Obstruction (LUTO) After Early, Intermediate and Late Onset of Therapy-A Monocentric Study of 104 Treated Cases. [PDF]

Biomedicines
Riehle N, Kohl T.
europepmc   +1 more source

Motor markers of congenital cerebellar hypoplasia

Elisa Straulino, Maria Devita, Luisa Sartori, Adele Ravelli, Marina De Rui, Matteo Bendini, Lorenzo Pini, Andrea Spoto, Sonia Betti, Erika Marinuzzi, Daniela Mapelli, Umberto Castiello, Chiara Begliomini   +12 more
openalex   +1 more source

Olig2‐specific loss‐of‐function Slc35a2 results in hypomyelination and spontaneous seizures

Epilepsia, EarlyView.
Abstract Objective Malformations of cortical development represent major causes of drug‐resistant epilepsy, with mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy recognized as a distinct pathological entity. Pathogenic X‐linked SLC35A2, encoding the uridine diphosphate–galactose transporter, has been implicated ...
Tiffany M. Bartel, Chaitali Ghosh, Kathryn Bisaha, Jean Khoury, Ashley Nemes‐Baran, Ingmar Blumcke, Imad Najm   +6 more
wiley   +1 more source