Results 61 to 70 of about 241,233 (172)
Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. [PDF]
PLoS ONE, 2013 Velocardiofacial syndrome (VCFS) is a disease in human with an expansive phenotypic spectrum and diverse genetic mechanisms mainly associated with copy number variations (CNVs) on 22q11.2 or other chromosomes.
Dandan Wu +7 more
doaj +1 more source
The Application of Clinical Genetics, 2022 Christy L Pylypjuk,1 Shiza F Memon,2 Bernard N Chodirker3 1Department of Obstetrics, Gynecology and Reproductive Sciences (Section of Maternal-Fetal Medicine), Children’s Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, MB ...
Pylypjuk CL, Memon SF, Chodirker BN
doaj
British Journal of Pharmacology, Volume 183, Issue 19, Page 5732-5751, October 2026.Abstract Cardiovascular disease (CVD) remains the leading global cause of death, driven by complex mechanisms, in which chronic inflammation plays a central role. Inflammatory pathways contribute to all stages of CVD, from endothelial dysfunction and plaque formation to erosion, rupture and myocardial injury.
Shreya Mahabhashyam +4 more
wiley +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 +8 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska +3 more
wiley +1 more source
A 30‐year‐old woman with progressive lower extremity sensory loss and weakness
Brain Pathology, EarlyView.
Daniel W. Griepp +4 more
wiley +1 more source
Cytogenetic Diversity of Variant Philadelphia Translocations in Chronic Myeloid Leukemia
International Journal of Laboratory Hematology, Volume 48, Issue 5, Page 1103-1112, October 2026.ABSTRACT Introduction Chronic myeloid leukemia (CML) is a disease characterized by Philadelphia (Ph) translocations. These translocations can be classical or variant. The structural features and diagnostic implications of variant Philadelphia translocations remain incompletely defined, and they display considerable cytogenetic heterogeneity. Methods In
Ayse Gul Bayrak Tokac +10 more
wiley +1 more source
A molecular analysis of 22q11.2 deletion syndrome [PDF]
22q11.2 Deletion Syndrome is a genetic syndrome that occurs in incidence of 1:4000 and is associated with variable phenotypic expression. It is caused by a deletion at chromosome 22q11.2.
Salaka, Afnan
core +6 more sources
BMC Medical Genetics, 2011 Background Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Genetic studies have implicated TBX1
Xu Yue-Juan +10 more
doaj +1 more source
Journal of Intellectual Disability Research, Volume 70, Issue 10, Page 1063-1076, October 2026.ABSTRACT Background Children with rare genetic conditions are more likely to experience neurodevelopmental challenges requiring additional educational support. Although the governments in the United Kingdom and Ireland are committed to providing such support, securing it can be challenging for parents, with potential adverse implications for their ...
Lowri O'Donovan +3 more
wiley +1 more source