Results 81 to 90 of about 10,838 (199)

Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population

Clinical Genetics, Volume 110, Issue 1, Page 90-95, July 2026.
Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong, Seungbok Lee, Soo Yeon Kim, Taekeun Kim, Woong‐Hee Shin, Sesong Jang, Ji‐Hwan Park, Dongmin Jang, Gunwoo Park, Jong Ho Cha, Jae So Cho, Anna Cho, Hunmin Kim, Hyewon Woo, Jon Soo Kim, Byung Chan Lim, Ji Eun Lee, Myungshin Kim, Chong Kun Cheon, Jungmin Choi, Jong‐Hee Chae   +20 more
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Cranial Ultrasound in the Management of Hydrocephalus in Newborns: A Case Series

Children
Background: Hydrocephalus in preterm and term newborns is a condition with an important impact on medical care and the neurological development of patients, with high expenditures regarding daily care.
Bogdan Florin Gonț, Loredana Mitran, Vlad Dima, Simona Vlădăreanu   +3 more
doaj   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1403-1410, June 2026.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1372-1377, June 2026.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Cilia in Nervous System Development, Function, and Disease

MedComm – Future Medicine, Volume 5, Issue 2, June 2026.
Cilia are evolutionarily conserved organelles that function as essential sensory and motility platforms in the nervous system. This review outlines key cilia‐dependent signaling pathways and their roles in neural development and function. Furthermore, it highlights how ciliary dysfunction can lead to a variety of neurological disorders, known as ...
Qingchao Li, Anqi Zhang, Ting Song
wiley   +1 more source

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca, Chiara Bosetti, Federico Ruoli, Liviana Fontanel, Marco Mazza, Enza Maria Valente, Roberta Battini, Edoardo Errichiello   +7 more
wiley   +1 more source

Changing trends in prenatal screening and treatment of cytomegalovirus infection in France: 7‐year national cohort study (2017–2023)

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 6, Page 756-763, June 2026.
ABSTRACT Objectives Cytomegalovirus (CMV) is the leading cause of congenital infectious neurosensory impairment. We aimed to present national epidemiological data on maternal CMV infection during pregnancy in France, focusing in particular on primary infection in the periconceptional period or first trimester, and to assess the impact of changes in ...
P. Coste‐Mazeau, E. Ribot, S. Hantz, Y. Ville, M. Leruez‐Ville, S. Alain, the French Congenital Infection database group, Maeva Anciaux, Laurent Andreoletti, Julie Arata‐Bardet, Carine Arlicot, Dominique Astruc, Jocelyne Attia, Marie‐Stéphanie Aubelle, Christelle Auvray, Bassel Bachour, Sonanda Bailleux, Nathalie Banaszkiewicz, Adeline Baron, Audrey Baudesson de Chanville, Manon Baudry, Agnès Beby‐Defaux, Alexandra Benachi, Melinda Benard, Yasmina Benmalek, Guillaume Benoist, Géraldine Benoit, Clotilde Bertrand, Florence Biquard, Delphine Body‐Bechou, Emilie Bouissou, Brahim Boumahni, Thomas Bourlet, Elise Bouthry, David Boutolleau, Marie Pierre Brechard, Caroline Bressollette, Olivier Brissaud, Marine Butin, Anne‐Sophie Cabaret‐Dufour, Romain Cahierc, Sandrine Caillot‐Vaudoyer, Odile Camard, Margaux Canaguier, Isabelle Cannavo, Clément Castella, Julie Cattin, Caroline Chessa, Marie‐Thérèse Cheve, Marianne Coicaud, Laurence Contin, Marianne Coste‐Burel, Sophie Couderc, Anne‐Marie Darras, Amélie Delabaere, Delphine Delayer, Mathilde Demeyere, Joelle Dendale, Anny Dewilde, Murielle Dobrzynski, Chloé Dole, Chloé Epiard, Véronique Equy, Laurence Fagour, Frederic Faibis, Benoit Fetiveau, Axel Fichez, Christelle Follet‐Bouhamed, Justine Formet, Vincent Foulongne, Loriane Franchinard, Emilie Frobert, Denis Gallot, Patricia Garcia, Isabelle Garrigue, Catherine Gaudy‐Graffin, Stéphanie Gouarin, Ann‐Claire Gourinat, Veronique Grezard, Michele Gueneret‐Bru, Jérôme Guinard, Frédérique Hay, Sophie Henault, Céline Homatter, Nadira Houhou, Cyril Huissoud, Véronique Jacomo, Gaelle Jambon, Eugénie Jolivet, Saodat Karimova, Blandine Keller, Sophie Ketterer‐Martinon, Fedia Khlif Masmoudi, François Kieffer, Bérengère Kireche, Anne‐Sophie L'Honneur, Jean‐Marc Labaune, Imad Labbassi, Marie‐Edith Lafon, Gisèle Lagathu, Stéphane Lastere, Hélène Laurichesse, Mouna Lazrek, Gwenaelle Le Bouar, Camille Le Pors, Claudine Le Vaillant, René Lebeaupin, Elodie Lecorps, Quentin Lepiller, Justine Lerat, Marine Letrecher, Nicolas Leveque, Emmanuelle Levine, Sophie Levrier, David Leyssene, Julien Lupo, Nadia Mahjoub, Anne‐Marie Maillotte, Sandrine Marioli, Julien Marlet, Stéphanie Marque Juillet, Manon Marquet, Charlotte Masias, Marco Millones Gonzales, Philippe Minodier, Nicolas Mottet, Eve Mousty, Sébastien Moutton, Anca Moza, Fatiha Najioullah, Anne‐Laure Nerre, Marie‐France Olieric, Isabelle Parent, Anne Paris, Christophe Pasquier, Estelle Perdriolle‐Galet, Franck Perrotin, Delphine Pesenti, Jean‐Charles Picaud, Olivier Picone, Sylvie Pillet, Léa Pilorge, Didier Pinquier, Veronique Poirier‐Cartron, Lucie Poisson, Perrine Prier, Catherine Queiros‐Da‐Silva, Thibaud Quibel, Harisoa Ramaholimihaso, Fabienne Raskin, Christel Regagnon, Mathilde Roffi, Thierry Rousseau, Anne‐Hélène Saliou, Adèle Schiby, Nathalie Schnepf, Christine Segard, Anaïs Soares, Morgane Solis, Robin Stephan, Natacha Teissier, Cyrielle Thonnon, Cynthia Trastour, Joelle Troussier, Anne Sylvie Valat, Christelle Vauloup‐Fellous, Véronique Venard, Valérie Vequeau‐Goua, Laura Verdurme, Mathilde Vermont, Marie Gabrielle Vigue, Marie Vincienne, Vladimir Vladimirov, Jean‐Baptiste Vuillemenot, Anne Sophie Weingertner, Eric Welter, Christine Zandotti   +176 more
wiley   +1 more source

Perinatal White Matter Injury: Connecting Histology, Pathophysiology and Neurodevelopmental Outcomes

Neuropathology and Applied Neurobiology, Volume 52, Issue 3, June 2026.
Perinatal white matter injury is associated with high rates of adverse neuropsychiatric outcomes and millions of years lived with disability. This review focuses on the macroscopic and microscopic features of perinatal white matter injury and how these relate to the proposed pathophysiology of this disease and adverse neurodevelopmental outcomes ...
Angela N. Viaene
wiley   +1 more source