Results 71 to 80 of about 241,233 (172)

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

4q34.1-q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

, 2011
Small terminal or interstitial deletions involving bands 4q34 and 4q35 have been described in several patients with a relatively mild phenotype such as mild to moderate intellectual disability and minor dysmorphic features.
Menten, Björn, Vojislav Parezanovic, Goran Cuturilo, Jovanovic, Ida, Björn Menten, Krstic, Aleksandar, Ida Jovanovic, Cuturilo, Goran, Danijela Drakulic, Stevanovic, Milena, Parezanovic, Vojislav, Milena Stevanovic, Drakulic, Danijela, Aleksandar Krstic   +13 more
core   +1 more source

Prenatal diagnosis of 22q11.2 deletion syndrome associated with right aortic arch, left ductus arteriosus, cardiomegaly, and pericardial effusion

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: To report prenatal diagnosis of 22q11.2 deletion syndrome with right aortic arch (RAA), left ductus arteriosus, cardiomegaly, and pericardial effusion in the fetus.
Yen-Ni Chen, Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Pei-Chen Wu, Tung-Yao Chang, Peih-Shan Wu, Chien-Wen Yang, Wayseen Wang   +8 more
doaj   +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

Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion

, 2004
BACKGROUND Analyses of the replication timing at 22q11.2 were prompted by our finding of a statistically significant bias in the origin of the regions flanking the deletion site in patients with 22q11.2 deletions, the proximal region being in the ...
Schinzel, Albert, Baumer Wolz, Alessandra; https://orcid.org/, Riegel, Mariluce; https://orcid.org/   +2 more
core   +1 more source

Analysis of genes within the schizophrenia-linked 22q11.2 deletion identifies interaction of night owl/LZTR1 and NF1 in GABAergic sleep control.

PLoS Genetics, 2020
The human 22q11.2 chromosomal deletion is one of the strongest identified genetic risk factors for schizophrenia. Although the deletion spans a number of known genes, the contribution of each of these to the 22q11.2 deletion syndrome (DS) is not known ...
Gianna W Maurer, Alina Malita, Stanislav Nagy, Takashi Koyama, Thomas M Werge, Kenneth A Halberg, Michael J Texada, Kim Rewitz   +7 more
doaj   +1 more source

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

, 2015
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable.
International Chromosome 22q11.2 Consortium
core   +1 more source

Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome

22q11.2 deletion syndrome is the commonest chromosome deletion syndrome. 22q11.2 deletion may result in variable clinical phenotypes which may differ even between patients with identical deletions.
Spickett GP, McLean-Tooke A, Gennery AR
core   +5 more sources

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

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

Molecular Cytogenetics, 2012
We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. The second twin had findings suggestive of DiGeorge syndrome, while the first twin had milder anomalies without any cardiac ...
Halder Ashutosh, Jain Manish, Chaudhary Isha, Varma Binuja   +3 more
doaj   +1 more source