Velo‐cardio‐facial syndrome: 30 years of study
RJ Shprintzen - Developmental disabilities research reviews, 2008 - Wiley Online Library
Velo‐cardio‐facial syndrome is one of the names that has been attached to one of the most
common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 …
common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 …
Velo‐cardio‐facial syndrome: A review of 120 patients
R Goldberg, B Motzkin, R Marion… - American journal of …, 1993 - Wiley Online Library
A series of earlier reports has described the velo‐cardio‐facial syndrome (VCFS), a
syndrome of multiple anomalies including cleft palate, heart malformations, facial …
syndrome of multiple anomalies including cleft palate, heart malformations, facial …
A surface-based approach to quantify local cortical gyrification
The high complexity of cortical convolutions in humans is very challenging both for
engineers to measure and compare it, and for biologists and physicians to understand it. In …
engineers to measure and compare it, and for biologists and physicians to understand it. In …
Prevalence of rearrangements in the 22q11. 2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case …
L Olsen, T Sparsø, SM Weinsheimer… - The Lancet …, 2018 - thelancet.com
Background Although the pathogenic nature of copy number variants (CNVs) on
chromosome 22q11. 2 has been recognised for decades, unbiased estimates of their …
chromosome 22q11. 2 has been recognised for decades, unbiased estimates of their …
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
PJ Scambler, D Kelly, E Lindsay, R Williamson… - The Lancet, 1992 - Elsevier
The large clinical overlap between DiGeorge syndrome and velo-cardio-facial syndrome
suggests an aetiological connection. DiGeorge syndrome is associated with microdeletions …
suggests an aetiological connection. DiGeorge syndrome is associated with microdeletions …
22q11 deletion syndrome: a genetic subtype of schizophrenia
AS Bassett, EWC Chow - Biological psychiatry, 1999 - Elsevier
Schizophrenia is likely to be caused by several susceptibility genes and may have
environmental factors that interact with susceptibility genes and/or nongenetic causes …
environmental factors that interact with susceptibility genes and/or nongenetic causes …
Defining the clinical spectrum of deletion 22q11. 2
NH Robin, RJ Shprintzen - The Journal of pediatrics, 2005 - jpeds.com
These studies have produced many important genetic and clinical discoveries and have
also led to several misunderstandings about del22q11, generating confusion among …
also led to several misunderstandings about del22q11, generating confusion among …
Autistic spectrum disorders in velo-cardio facial syndrome (22q11. 2 deletion)
KM Antshel, A Aneja, L Strunge, J Peebles… - Journal of autism and …, 2007 - Springer
The extent to which the phenotype of children comorbid for velocardiofacial syndrome
(VCFS) and autism spectrum disorders (ASD) differs from that of VCFS-only has not been …
(VCFS) and autism spectrum disorders (ASD) differs from that of VCFS-only has not been …
Risk of psychiatric disorders among individuals with the 22q11. 2 deletion or duplication: a Danish nationwide, register-based study
Importance Microdeletions and duplications have been described at the 22q11. 2 locus.
However, little is known about the clinical and epidemiologic consequences at the …
However, little is known about the clinical and epidemiologic consequences at the …
ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome
KM Antshel, W Fremont, NJ Roizen… - Journal of the American …, 2006 - Elsevier
OBJECTIVE: To examine prevalence rates of psychopathology in children with
velocardiofacial syndrome (VCFS). METHOD: One hundred fifty-four children ages 6 to 15 …
velocardiofacial syndrome (VCFS). METHOD: One hundred fifty-four children ages 6 to 15 …