Results 171 to 180 of about 70,338 (285)

A pediatric patient with Warsaw breakage syndrome presenting with epilepsy: a case report and literature review. [PDF]

Front Neurosci
Zhang Y, Yi Z, Zhang Y, Song Z, Yang C, Li F, Liu K, Li J, Xue J.   +8 more
europepmc   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Metabolic functions for molecular chaperones and stress proteins in microcephaly. [PDF]

Cell Mol Life Sci
Morris MJ, Ng DCH.
europepmc   +1 more source

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Functional Interpretation of a Novel Homozygous METTL5 Variant Associated with ADHD and Neurodevelopmental Abnormalities: A Case Report and Literature Review. [PDF]

Genes (Basel)
Hashem S, Elhag SF, Bhat AA, Aamer W, Al-Maraghi A, Alhaboub H, Abuthaher D, Akil ASA, Haris M, Fakhro K, Nemer G, Kamal M.   +11 more
europepmc   +1 more source

Infants' General Movements Were Not Affected by Exposure to Maternal Severe Acute Respiratory Syndrome Coronavirus 2 Infections

Acta Paediatrica, Volume 115, Issue 4, Page 913-922, April 2026.
ABSTRACT Aim Prenatal maternal infections may impair infant brain development. This study investigated the effect of maternal infections with the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) during pregnancy on infant neurodevelopment by assessing general movements (GMs).
Kathrin Neumayr, Katharina Lippert, A. Sebastian Schroeder, Vinzenz G. Eck, Uta Tacke, Sevil Üzer, Andreas W. Flemmer, Mathias Klemme, Claudia Nussbaum, Nikolas Hesse, Sergi Pujades, Leander Behr, Sonja Strieker, Florian Heinen, Mirjam N. Landgraf   +14 more
wiley   +1 more source

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating <i>KMT2A</i> Variant: Clinical and Genetic Correlations. [PDF]

Reports (MDPI)
Sokolova T, Ivanov H, Panova M, Sotkova-Ivanova I, Stoyanova V.   +4 more
europepmc   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, Volume 109, Issue 4, Page 707-716, April 2026.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Expanding the mutational spectrum of congenital microcephaly in Pakistani families. [PDF]

Front Genet
Farooq S, Asif M, Abbasi AA, Latif Z, Ku B, Makhdoom EUH, Shadab M, Khan MA, Muzammal M, Waqar R, Nisar R, Khan FS, Aslam S, Schweiger MR, Hussain MS.   +14 more
europepmc   +1 more source

Antipsychotic Use Among Intellectually Disabled Individuals With Rare Genetic Variants That Confer Risk for Schizophrenia

Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 440-445, April 2026.
ABSTRACT Background Rare genetic variation can predispose individuals to the development of schizophrenia, with certain genes and copy number variants (CNVs) conferring risk at the exome/genome‐wide level. Despite this strong association, little is known about antipsychotic effectiveness and tolerability among individuals with most of these disorders ...
Mark Ainsley Colijn
wiley   +1 more source