Di George's syndrome

(redirected from 22q11.2 deletion syndrome)
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Di George's syndrome

[də′jȯrj·əz ‚sin‚drōm]
(medicine)
thymic aplasia
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References in periodicals archive ?
And that was one of the tell-tale signs of his condition, 22q11.
ICE OLLY; COOL CUSTOMER A BRAVE BOY DEFIES PAIN FOR HIS SPORT; Family tell how seven-year-old was transformed by his passion
Panorama's unique technology enables it to determine zygosity and each twin's gender while also allowing it to identify risk for more genetic conditions in twin pregnancies than other NIPTs, including monosomy X, sex chromosome trisomies, and 22q11.
NIPT SCREENING FOR TWIN ZYGOSITY AND GENETIC RISK FACTORS
The study, published in Clinical Genetics, retrospectively analyzed the performance of the single-nucleotide polymorphism -based NIPT in 80,449 referrals for 22q11.
Natera Study Shows High Accuracy of Panorama Prenatal Screen in Identifying DNA Microdeletions
Cardiovascular anomalies associated with chromosome 22q11.
HIRA Gene is Lower Expressed in the Myocardium of Patients with Tetralogy of Fallot
NFC-1 is entering Phase 2/3 for the treatment of mGluR network mutation positive Attention Deficit Hyperactivity Disorder (mGluR+ ADHD), as well as neuropsychiatric symptoms resulting from a related rare genetic disorder, 22q11.
Medgenics Acquires ADHD Drug Developer NeuroFix Therapeutics
Copy number variations and risk for schizophrenia in 22q11.
Characterization of behavior profile and social competence of individuals with the del22q11.2 syndrome/Caracterizacao do perfil comportamental e de competencia social de individuos com a sindrome del22q11.2
Occurrence of affective disorders compared to other psychiatric disorders in children and adolescents with 22q11.
El sindrome 22q11.2D S como un subtipo genetico de esquizofrenia
Mapping the deletion endpoints in individuals with 22q11.
Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR
Psychiatric disorders have been reported with 22q11.
Case report: DiGeorge syndrome presenting with hypoparathyrodism and learning difficulties in adulthood
She was quickly diagnosed with Pulmonary Atresia, Ventricular Septal Defect, Major Aortopulmonary Collaterals (MAPCAs) and 22q11.
'IT'S VERY RARE TO HAVE A CHILD WITH A HEART CONDITION THAT CAN'T BE FIXED' MUM COMPLETES HALF-MARATHONS MISSION FOR THE SAKE OF HER SICK DAUGHTER ELAIN where her Elain
Cardiac defects and results of cardiac surgery in 22q11.
Analisis de microdeleciones en 22qll en pacientes colombianos con cardiopatia congenita no sindromica
We are studying children with a genetic condition called 22q11.
'We have a long way to go when it comes to understanding the brain' One of Cardiff University's three new research institutes will focus on the often overlooked area of neuroscience and mental health, as its director Professor Michael Owen explains

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