Brain and Behavior, Volume 16, Issue 1, January 2026.This study reveals causal links between gut microbiota and congenital nervous system malformations, identifying nine immune cell types, such as CD20+ and CD25+ B cells, as mediators, highlighting gut–immune interactions as potential preventive or therapeutic targets.
Haokun Tian +12 more
wiley +1 more source
Prenatal Diagnosis Of Catch22 Syndrome
Gynecology Obstetrics & Reproductive Medicine, 2010 Deletions involving the long arm of chromosome 22 (22q11) are involved in various congenital heart diseases and congenital anomalies. In most cases, patients also have the features of DiGeorge Syndrome (DGS), Velocardiofacial Syndrome (VCFS), Shprintzen ...
Rana Karayalçın +5 more
doaj
Immunodeficiency in children with dysmorphic disorders
Pediatria i Medycyna Rodzinna, 2015 Ataxia telangiectasia, Nijmegen breakage syndrome and DiGeorge syndrome are congenital disorders belonging to the category of primary immunodeficiencies.
Marta Ogrodowczyk +3 more
doaj +1 more source
Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis [PDF]
, 2008 Background Microdeletion syndromes are generally identified because they usually give rise to specific phenotypic features; many of these deletions are mediated by duplicons or LCRs. The phenotypes associated with subtelomeric deletions are also becoming
Joo Wook Ahn +3 more
core +2 more sources
Peripheral Blood Morphology as a Clue to 22q11.2 Deletion Syndrome
eJHaem, Volume 7, Issue 2, April 2026.
Jochen Pfeifer +4 more
wiley +1 more source
Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]
, 2018 Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes,
Dutcher, Susan K. +3 more
core +2 more sources
Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases [PDF]
, 2011 Genetic testing usually helps physicians to determine possible genetic diseases in unborn babies, genetic disorders of patients and the carriers who might pass the mutant gene on to their children.
Asli Subasioglu Uzak +3 more
core +1 more source
Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population [PDF]
, 2015 Background: Ventricular septal defects (VSDs) constitute the most prevalent congenital heart disease (CHD), occurs either in isolation (isolated VSD) or in combination with other cardiac defects (complex VSD).
Bailin Wu +12 more
core +1 more source
Revision Surgery in Permanent Patellar Dislocation in DiGeorge Syndrome
Case Reports in Orthopedics, 2015 A 29-year-old patient, suffering from DiGeorge syndrome, came to our attention with a history of persistent pain and patellar instability in the left knee after failure of arthroscopic lateral release and Elmslie-Trillat procedure. The patient was unable
Massimo Berruto +5 more
doaj +1 more source
22q11.2 deléciók azonosítási kisérlete magyar szkizofrénia biobank mintákon multiplex ligációs alapú próba amplifikáció (MLPA) módszerrel: irodalmi összefoglalás, módszertani leírás és eredmények [PDF]
, 2017 Schizophrenia is a severe debilitating psychiatric disorder, with a typical onset in adolescence or early adulthood. This condition is characterized by heterogeneous symptoms (hallucinations, delusions, disorganized behaviour, affective flattening, and ...
Benkovits, Judit +6 more
core