Results 41 to 50 of about 3,407 (171)

Factors Associated With Challenging Behaviour in People With Severe‐Profound Intellectual Disabilities: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Individuals with severe to profound intellectual disability (ID) exhibit high support needs and significant communication impairments and may present with challenging behaviours such as aggression, self‐injury and stereotypies. These behaviours can cause distress, hinder healthcare access and delivery and impair quality of life for ...
I. D. C. van Balkom, J. Cooke, A. G. de Cuba, E. Burkitt‐Wright, C. Gaasterland, M. Burdeus‐Olavarrieta   +5 more
wiley   +1 more source

Abschied vom Exempel? Voltaires „Les deux consolés“ (1756) im intertextuellen Dialog mit der Trostliteratur

Orbis Litterarum, EarlyView.
Zusammenfassung Die consolatio als Gattung verschwindet nach derzeitigem Forschungsstand gegen Ende des 17. Jahrhunderts, doch auch im 18. Jahrhundert finden sich Ausläufer dieser bedeutsamen philosophisch‐rhetorischen Tradition. Voltaire widmet dem Trost, mit seiner Kurzerzählung Les deux consolés, noch zur Jahrhundertmitte eine literarische Parodie ...
Konstanze Baron
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2547-2552, November 2026.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, Volume 46, Issue 10, Page 1557-1564, September 2026.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

Desprendimiento de retina y subluxación de cristalino por traumatismo ocular autoinfligido en el síndrome de Cornelia de Lange

Revista Mexicana de Oftalmología, 2014
El síndrome de Cornelia de Lange es un desorden congénito multisistémico autosómico dominante ocasionado por una mutación en varios genes, siendo el gen NIPBL localizado en el cromosoma 5p13 el primero y más común de causa genética hasta en un 60% de los
Norma Aide Castro-Santana, Rubén Iván Cárdenas Hernández, Edwin Javier Anaya-Pava   +2 more
doaj   +1 more source

German Hypothermia Registry Improves Clinician Confidence and Harmonises Decentralised Neonatal Hypoxic‐Ischaemic Encephalopathy Care in Germany

Acta Paediatrica, Volume 115, Issue 9, Page 1910-1916, September 2026.
ABSTRACT Aim Decentralised implementation of therapeutic hypothermia (TH) for neonatal hypoxic‐ischaemic encephalopathy (HIE) in Germany historically caused heterogeneous clinical practices. The aim of this study was to assess the impact of the German Hypothermia Registry on clinical standardisation and confidence in neonatal HIE care since its ...
Till Dresbach, Khaled Abdelrahman, Sebiha Demir, Anne Groteklaes, Alexandra Boeckenhoff, Andreas Mueller, Hemmen Sabir, on behalf of the German Hypothermia Registry, Milian Brasche, Nicolas Allgaier, Daniel Klotz, Norbert Teig, Katja Schneider, Hemmen Sabir, Sandra Holz, Birte Tröger, Thorsten Körner, Uwe Höpner, Marie Schmenk, Michael Hofmann, Mario Rüdiger, Julia Osterholt, Martin Berghäuser, Christopher Willerscheidt, Farina Morgenroth, Hans Jörg Bittrich, Steven Hébert, Arber Arapi, Anja Stein, Veit Lange, Gunnar Rau, Nikolas Hillenbrandt, Matthias Reger, Susanne Schade, Jana Dieks, Heimke von Osten, Marita Horstkemper, Martin Blohm, Mario Lange, Bettina Bohnhorst, Simon Kranig, Maurice Petrasch, Nasenien Nourkami‐Tutdibi, Christiane Pinkwart, Thomas Kriebel, Julia Jerabek, Nora Bonney, Angela Kribs, Clemens Andrée, Sophia Stadermann, Kirsten Glaser, Peter Jahn, Katrin Braun, Anna Eisenhardt, Alba Perez‐Ortiz, Nadine Mand, Timea Takacs, Anja Jäger, Oliver Schroers, Esther Schouten, Claudia Nussbaum, Kai Böckenholt, Rüdiger Wentzell, Guido Engelmann, Katherine Louise Kastor, Michael Schroth, Matthias Engler, Friederike Eichhorn, Moritz Rohrbach, Fabian Bärtling, Frank Dohle, Matthias Keller, Marion Weber, Verena Lehnerer, Anja Mayer, Marie‐Claire Detemple, Valentin Oellers, Markus Pingel, Friederike Eilbracht, Jutta Adler, Elena Eberle, Karoline Goj, Virginia Toth, Andrea Czoske, Cornelia Wiechers, Christiane Mayer, Anja Schumann, Patrick Salaschek, Janaina Rauch, Kai Hensel, Pia Paul   +90 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1821-1831, August 2026.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Real‐world outcomes of responsive neurostimulation in patients with Lennox–Gastaut syndrome: A multicenter retrospective study

Epilepsia Open, Volume 11, Issue 4, Page 1244-1254, August 2026.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types and high resistance to antiseizure medication (ASM), often necessitating nonpharmacologic therapies, including neuromodulation.
Shanna M. Swartwood, Robert J. Bollo, Catherine J. Chu, Alexandra L. Geffrey, Robert Mark Richardson, Hiroki Nariai, Aria Fallah, Samuel Ahn, Saadi Ghatan, Laura Chenevert, Maite La Vega‐Talbott, Audie C. Espinoza   +11 more
wiley   +1 more source

NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR

Cell Reports, 2016
NIPBL, a cohesin loader, has been implicated in transcriptional control and genome organization. Mutations in NIPBL, cohesin, and its deacetylase HDAC8 result in Cornelia de Lange syndrome.
Kobe C. Yuen, Baoshan Xu, Ian D. Krantz, Jennifer L. Gerton   +3 more
doaj   +1 more source