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About 1,460 results

ALLMedicine™ 22q11.2 Deletion Syndrome Center

Research & Reviews  572 results

Neural substrates of psychosis revealed by altered dependencies between brain activity ...
https://doi.org/10.1016/j.nicl.2022.103075
NeuroImage. Clinical; Bortolin K, Delavari F et. al.

Jun 20th, 2022 - Dysconnectivity has been consistently proposed as a major key mechanism in psychosis. Indeed, disruptions in large-scale structural and functional brain networks have been associated with psychotic symptoms. However, brain activity is largely cons...

Challenges in genetic diagnosis, co-occurrence of 22q11.2 deletion syndrome and Noonan ...
https://doi.org/10.1002/ajmg.a.62862
American Journal of Medical Genetics. Part A; Chinton J, Huckstadt V et. al.

Jun 12th, 2022 - Noonan syndrome (NS) is caused by pathogenic variants in genes involved in the RAS/MAPK pathway. On the other hand, 22q11.2 Deletion Syndrome (22q11.2DS) is caused by heterozygous microdeletion on chromosome 22q11.2. The clinical characteristics o...

Speech Telepractice and Treatment Intensity in a Cantonese-Speaking Case with 22q11.2 D...
https://doi.org/10.1177/10556656221106042
The Cleft Palate-craniofacial Journal : Official Publicat... Pereira VJ, So JYT et. al.

Jun 10th, 2022 - This case report explores clinical treatment efficacy in a Cantonese-speaking child with 22q11.2 Deletion Syndrome where diagnosis and management of velopharyngeal dysfunction can be considered late. All treatment sessions were undertaken via tele...

Assessment of the Velopharyngeal Mechanism at Rest and During Speech in Children With 2...
https://doi.org/10.1177/10556656221100674
The Cleft Palate-craniofacial Journal : Official Publicat... Kollara L, Perry JL et. al.

May 17th, 2022 - Velopharyngeal dysfunction (VPD) associated with 22q11.2 deletion syndrome (22q11.2DS) has a complex etiology. This study had 3 aims: (1) assess differences in velopharyngeal and levator muscle configuration during rest versus sustained speech pro...

Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong asso...
https://doi.org/10.1002/ajmg.a.62763
American Journal of Medical Genetics. Part A; Mastromoro G, Calcagni G et. al.

May 3rd, 2022 - Crossed pulmonary arteries (CPAs) represent an uncommon anatomic variant, usually associated with some specific syndromes and conotruncal defects. This finding has been described in 22q11.2 Deletion Syndrome (22q11.2DS). We evaluated the correlati...

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Clinicaltrials.gov  2 results

Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
https://clinicaltrials.gov/ct2/show/NCT02460328

Mar 23rd, 2016 - 22q11.2 Deletion Syndrome is the most common for microdeletion syndrome. The incidence is about 1:4000 of live birth. Clinical features in this syndrome are vary which consist of conotruncal cardiac anomalies, developmental disabilities, palatal a...

Cognitive Remediation in 22q11DS
https://clinicaltrials.gov/ct2/show/NCT01781923

Aug 10th, 2015 - The goal of this study is to collect preliminary data on the efficacy of a cognitive remediation program in improving the neurocognitive deficits in children with chromosome 22q11.2 deletion syndrome (22q11DS). This study involves a two part appro...

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News  9 results

Calcium-Channel Abnormalities Underlie Genetic Cause of Schizophrenia
https://www.medscape.com/viewarticle/938993

Oct 14th, 2020 - NEW YORK (Reuters Health) - In 22q11.2 deletion syndrome, a common genetic cause of schizophrenia, abnormalities in calcium-channel signaling resulting from the loss of the gene DGCR8 appear to underlie the neuronal defects, researchers report. "I...

Calcium-Channel Abnormalities Underlie Genetic Cause of Schizophrenia
https://www.staging.medscape.com/viewarticle/938993

Oct 14th, 2020 - NEW YORK (Reuters Health) - In 22q11.2 deletion syndrome, a common genetic cause of schizophrenia, abnormalities in calcium-channel signaling resulting from the loss of the gene DGCR8 appear to underlie the neuronal defects, researchers report. "I...

Product Update: Natera’s Panorama NIPT; Solosec from Symbiomix Therapeutics
https://www.mdedge.com/node/150332/path_term/49726

Oct 30th, 2017 - NIPT SCREENING FOR TWIN ZYGOSITY AND GENETIC RISK FACTORS The Natera® Panorama® non-invasive prenatal test (NIPT) now screens twin pregnancies for zygosity and chromosomal abnormalities. Natera says that Panorama is the first NIPT that can determi.

What Is Chromosome 22q11.2 Deletion Syndrome, and Why Do You Need to Know?
https://www.medscape.com/viewarticle/866043

Jul 18th, 2016 - I'm Donna McDonald-McGinn, a clinical professor of pediatrics at the Perelman School of Medicine at the University of Pennsylvania. I'm also director of the 22q and You Center, chief of the Section of Genetic Counseling, and associate director of ...

Chromosomal Deletion May Increase the Risk of Parkinson’s Disease
https://www.mdedge.com/neurology/article/108497/movement-disorders/chromosomal-deletion-may-increase-risk-parkinsons

Apr 29th, 2016 - Chromosomal deletion at 22q11. 2 may increase the risk of Parkinson’s disease, particularly early-onset Parkinson’s disease, according to research published online ahead of print March 23 in the Lancet Neurology.

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Patient Education  1 results see all →