Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 10/31/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 53 publications

Prenatal ultrasonic characteristics and genetic analysis of fetuses with chromosome 22q11 microdeletion syndrome

Prenatal ultrasonic characteristics and genetic analysis of fetuses with chromosome 22q11 microdeletion syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 06, 2021

Novel Combination of Surface Markers for the Reliable and Comprehensive Identification of Human Thymic Epithelial Cells by Flow Cytometry: Quantitation and Transcriptional Characterization of Thymic Stroma in a Pediatric Cohort.

Novel Combination of Surface Markers for the Reliable and Comprehensive Identification of Human Thymic Epithelial Cells by Flow Cytometry: Quantitation and Transcriptional Characterization of Thymic Stroma in a Pediatric Cohort.

Journal: Frontiers in immunology
Published: July 12, 2021

Coding of social novelty in the hippocampal CA2 region and its disruption and rescue in a 22q11.2 microdeletion mouse model.

Coding of social novelty in the hippocampal CA2 region and its disruption and rescue in a 22q11.2 microdeletion mouse model.

Journal: Nature neuroscience
Published: June 17, 2019

Retropharyngeal lipostructure in the treatment of velopharyngeal insufficiency: A prospective study and update.

Retropharyngeal lipostructure in the treatment of velopharyngeal insufficiency: A prospective study and update.

Journal: European annals of otorhinolaryngology, head and neck diseases
Published: March 24, 2019

Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.

Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.

Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience
Published: August 02, 2018

Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.

Atypical microdeletion in 22q11 deletion syndrome reveals new candidate causative genes: A case report and literature review.

Journal: Medicine
Published: February 22, 2018

Microdeletion 22q11.2 syndrome: Does thymus incidental surgical resection affect its immunological profile?

Microdeletion 22q11.2 syndrome: Does thymus incidental surgical resection affect its immunological profile?

Journal: Allergologia et immunopathologia
Published: February 21, 2018

Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples.

Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples.

Journal: PloS one
Published: October 17, 2017

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

Journal: Human molecular genetics
Published: October 12, 2017

Microarray analysis in pregnancies with isolated unilateral kidney agenesis.

Microarray analysis in pregnancies with isolated unilateral kidney agenesis.

Journal: Pediatric research
Published: September 02, 2017

The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome.

The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome.

Journal: Pediatric cardiology
Published: March 12, 2017

An attempt to identify 22q11.2 microdeletions in samples of the Hungarian schizophrenia DNA bank by multiplex ligation-based probe amplification (MLPA): literature review, methodology and results

An attempt to identify 22q11.2 microdeletions in samples of the Hungarian schizophrenia DNA bank by multiplex ligation-based probe amplification (MLPA): literature review, methodology and results

Journal: Neuropsychopharmacologia Hungarica : a Magyar Pszichofarmakologiai Egyesulet lapja = official journal of the Hungarian Association of Psychopharmacology
Published: March 06, 2017
Showing 1-12 of 53

Last Updated: 10/31/2025