Donna M McDonald-McGinn,Elaine H Zackai
Donna M McDonald-McGinn
Because of advances in palliative medical care, children with the 22q11.2 deletion syndrome are surviving into adulthood. An increase in reproductive fitness will likely follow necessitating enhanced access to genetic counseling for these p...
Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome [0.03%]
velocardiofacial综合征的基因、脑发育及其心理表型研究
Doron Gothelf,Marie Schaer,Stephan Eliez
Doron Gothelf
Velo-cardio-facial syndrome (VCFS) has been in the focus of intensive research over the last 15 years. The syndrome represents a homogeneous model for studying the effect of a decreased dosage of genes on the development of brain structure ...
The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective [0.03%]
染色体22q11.2缺失症(腭心面容综合征)的神经认知表现：一种发展的视角
Kevin M Antshel,Wanda Fremont,Wendy R Kates
Kevin M Antshel
Although research has focused primarily on the wide range of variability in the cognitive phenotype between individuals with velo-cardio-facial syndrome (VCFS), we know relatively little about the extent to which within-individual expressio...
Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome [0.03%]
22q11.2缺失综合征先天性心脏病及心脏手术预后
Adriano Carotti,Maria Cristina Digilio,Gerardo Piacentini et al.
Adriano Carotti et al.
Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other genetic syndromes. The conotruncal heart defects occurring in patients with 22q11.2 deletion syndrome include ...
Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome [0.03%]
22q11.2缺失综合征的行为表型及候选基因
Sarah E Prasad,Sarah Howley,Kieran C Murphy
Sarah E Prasad
There is an overwhelming evidence that children and adults with 22q11.2 deletion syndrome (22q11.2DS) have a characteristic behavioral phenotype. In particular, there is a growing body of evidence that indicates an unequivocal association b...
Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome [0.03%]
velocardiofacial综合征/DiGeorge综合征的物理畸形的遗传修饰因子
Vimla S Aggarwal,Bernice E Morrow
Vimla S Aggarwal
Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiac outflow tract malformations. Most patients hav...
Beverly S Emanuel
Beverly S Emanuel
Several recurrent, constitutional genomic disorders are present on chromosome 22q. These include the translocations and deletions associated with DiGeorge and velocardiofacial syndrome and the translocations that give rise to the recurrent ...
Robert J Shprintzen
Robert J Shprintzen
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 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and...
Introduction: advances in research on velo-cardio-facial syndrome/22q11.2 deletion syndrome [0.03%]
介绍：关于心颜面血管异常综合征/22q11.2缺失综合征的研究进展
Wendy R Kates,Beverly S Emanuel
Wendy R Kates
A new account of the neurocognitive foundations of impairments in space, time and number processing in children with chromosome 22q11.2 deletion syndrome [0.03%]
染色体22q11.2缺失综合征儿童空间、时间和数量处理缺陷的神经认知基础的新解释
Tony J Simon
Tony J Simon
In this article, I present an updated account that attempts to explain, in cognitive processing and neural terms, the nonverbal intellectual impairments experienced by most children with deletions of chromosome 22q11.2. Specifically, I prop...