Results 81 to 90 of about 241,233 (172)

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

An exploration of the experiences of children and young people with 22q11.2 Deletion Syndrome [PDF]

Background: 22q11.2 deletion syndrome is a complex and highly variable genetic syndrome characterised by multiple complex physical abnormalities and neurodevelopmental challenges affecting both social and educational outcomes for young people.
Ward, H.
core  

22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter

Cardiogenetics, 2011
Dear E.G., this is an open letter on 22q11.2 deletion syndrome (DiGeorge syndrome). You are the mother of a beautiful 3 year old child. And you are one of the most active members of Aidel22, the Italian Association of 22q deletion syndrome patients and ...
Antonio Baldini, Maria Cristina Digilio, Bruno Marino   +2 more
doaj   +1 more source

Paving the way for integrating genetic testing into clinical care in childhood‐onset schizophrenia

General Psychiatry, Volume 39, Issue 5, October 2026.
Arnaud Fernandez, Philippe Auby, Boris Chaumette, Gaelle Laure, Susanne Thümmler, Florence Askenazy   +5 more
wiley   +1 more source

High‐Content CRISPR Screening: Methods and Applications

MedComm, Volume 7, Issue 9, September 2026.
High‐content CRISPR screening represents a paradigm shift in functional genomics, moving beyond traditional survival‐based readouts to enable multidimensional mapping of genotype–phenotype relationships. This review systematically outlines the methodological evolution of this approach, detailing advances in perturbation modalities, delivery systems ...
Yike Zhang, Yimeng Zhang, Xudong Tang, Xinyu Deng, Yitian Zhou, Yanfeng Wu, Jianhua Luo   +6 more
wiley   +1 more source

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management

, 2018
The 22q11.2 deletion syndrome (22q11.2 DS) places affected individuals at an increased risk for neurodevelopmental/cognitive, behavioral and social-emotional difficulties.
Swillen, Ann, Moss, Edward, Duijff, Sasja   +2 more
core   +1 more source

Imaging patterns and genetic associations of brain atrophy across distinct symptom stages in Parkinson's disease

Neuroprotection, Volume 4, Issue 3, Page 262-274, September 2026.
Early disease stages showed limited cortical atrophy and enrichment of synaptic and calcium signaling pathways, whereas advanced stages demonstrated widespread cortical degeneration associated with immune activation and extracellular matrix remodeling.
Yi Ji, Liujia Lu, Kaidong Chen, Ruixuan Zhang, Yao Lu, Yachen Shi, Xiangming Fang   +6 more
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

An antisense oligonucleotide-based strategy to ameliorate cognitive dysfunction in the 22q11.2 Deletion Syndrome

eLife
Adults and children with the 22q11.2 Deletion Syndrome demonstrate cognitive, social, and emotional impairments and high risk for schizophrenia. Work in mouse model of the 22q11.2 deletion provided compelling evidence for abnormal expression and ...
Pratibha Thakur, Martin Lackinger, Anastasia Diamantopoulou, Sneha Rao, Yijing Chen, Khakima Khalizova, Annie Ferng, Curt Mazur, Holly Kordasiewicz, Robert J Shprintzen, Sander Markx, Bin Xu, Joseph A Gogos   +12 more
doaj   +1 more source

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, Volume 56, Issue 9, Page 1488-1499, September 2026.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source