Results 31 to 40 of about 1,354,450 (122)

22q11.2 Deletion Syndrome: Symptoms, Diagnosis, Treatment

, 2016
The article analyzes the consequences of chromosomal abnormalities caused by the deletion of a small piece of chromosome 22. This syndrome results in diverse clinical manifestations: congenital heart defects, abnormalities in the large vessels ...
Natalya V. Jourkova, A. A. Pushkov, N. V. Jourkova, Leyla S. Namazova-Baranova, O. V. Ginter, Tatyana Y. Mospan, Kirill V. Savostyanov, Irina V. Davydova, L. S. Namazova-Baranova, I. V. Davydova, Olga V. Ginter, Alexandr A. Pushkov, T. A. Polunina, Tatyana A. Polunina, T. Y. Mospan, K. V. Savostyanov   +15 more
core   +1 more source

Early‐Onset Parkinson's Disease with 22q11.2 Microdeletion and Pathogenic GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Nikolai Gil D. Reyes, Daniel G. Di Luca, Ivan Martinez‐Valbuena, Erik Boot, Maria Corral, Ryan K.C. Yuen, Connie Marras, Anthony E. Lang, Anne S. Bassett   +8 more
wiley   +1 more source

Whole‐Genome Sequencing Pilot of the Central Asian Genomic Diversity Project Reveals Distinct Histories, Adaptation, and Introgression

Advanced Science, Volume 13, Issue 53, 24 September 2026.
As a pilot phase of the Central Asian Genomic Diversity Project, whole‐genome sequencing of 166 individuals from 20 Central Asian and Afghan Hazara populations reveals fine‐scale substructure shaped by repeated trans‐Eurasian migration and admixture. Integrated analyses uncover post‐admixture adaptation, archaic introgression, and medically relevant ...
Mengge Wang, Shuhan Duan, Qiuxia Sun, Renkuan Tang, Lintao Luo, Jie Zhong, Zhaxylyk Sabitov, CAGDP Consortium†, Lan‐Hai Wei, Chao Liu, Maxat Zhabagin, Guanglin He   +11 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome [PDF]

, 2014
Objective: Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and ...
Vorstman, Jacob, Simon, Tony J, Weizman, Abraham, Duijff, Sasja N, Schneider, Maude, Gur, Raquel E, Klaassen, Petra W.J., Bassett, Anne S., Klaassen, Petra W. J., Murphy, Kieran C., Swillen, Ann, Chow, Eva W.C., Duijff, Sasja N., Jalbrzikowski, Maria, Hooper, Stephen R, van den Bree, Marianne B.M., Niarchou, Maria, Gothelf, Doron, Ousley, Opal, Green, Tamar, Campbell, Linda E, Fremont, Wanda, Antshel, Kevin M., Chow, Eva WC, ?, ?, Debbane, Martin, Murphy, Declan G.; id_orcid, Murphy, Declan G., Eliez, Stephan, Vicari, Stefano, Boot, Erik, for the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, Bearden, Carrie E., Antshel, Kevin M, Owen, Michael, Zackai, Elaine H, Murphy, Declan G, Bearden, Carrie E, Klaassen, Petra WJ, Campbell, Linda E., Zackai, Elaine H., Kates, Wendy R., Bassett, Anne S, Hooper, Stephen R., Van Amelsvoort, Therese, Murphy, Kieran C, Fung, Wai Lun Alan, Evers, Laurens, van den Bree, Marianne B. M., Shashi, Vandana, Simon, Tony J., van den Bree, Marianne BM, Kates, Wendy R, Gur, Raquel E., Chow, Eva W. C., Armando, Marco, McDonald-McGinn, Donna M., McDonald-McGinn, Donna M   +57 more
core   +1 more source

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy

Epilepsia, Volume 67, Issue 9, Page e141-e149, September 2026.
Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta, Giulia Bruschi, Tania Giangregorio, Carlotta Stipa, Elisa Mannini, Raffaella Minardi, Barbara Mostacci, Valentina Tontini, Tommaso Pippucci, Francesca Bisulli, Pamela Magini   +10 more
wiley   +1 more source

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

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated [PDF]

, 2013
CHARGE (coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear abnormalities) and 22q11.2 deletion syndromes are variable, congenital malformation syndromes that show considerable phenotypic ...
McDonald-McGinn, D M, Derks, R, Saitta, S C, Kerstjens-Frederikse, W S, Zackai, E H, van Ravenswaaij-Arts, C M A, Driscoll, D A, Emanuel, B S, Hoefsloot, L H, Dickinson, K A, Corsten-Janssen, N   +10 more
core   +2 more sources

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

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