Published in J Med Genet on June 01, 1997
22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry (1999) 2.43
A population study of chromosome 22q11 deletions in infancy. Arch Dis Child (1998) 2.15
22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet (1998) 1.79
Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord (2006) 1.65
Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: a 3-year follow-up study. J Am Acad Child Adolesc Psychiatry (2010) 1.63
Phenotype of adults with the 22q11 deletion syndrome: A review. Am J Med Genet (1999) 1.52
Structural brain abnormalities in patients with schizophrenia and 22q11 deletion syndrome. Biol Psychiatry (2002) 1.27
Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: a longitudinal study. Schizophr Res (2007) 1.26
Neuropsychological characteristics of children with the 22q11 Deletion Syndrome: a descriptive analysis. Child Neuropsychol (2005) 1.25
Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders. Mol Psychiatry (2013) 1.22
A new account of the neurocognitive foundations of impairments in space, time and number processing in children with chromosome 22q11.2 deletion syndrome. Dev Disabil Res Rev (2008) 1.20
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. Neurogenetics (2006) 1.14
Is COMT a susceptibility gene for schizophrenia? Schizophr Bull (2007) 1.14
Networks of attention in children with the 22q11 deletion syndrome. Dev Neuropsychol (2004) 1.13
A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. Dev Psychopathol (2005) 1.13
The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome). Neuropsychologia (2007) 1.13
The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan. Biol Psychiatry (2013) 1.11
Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model. Hum Mol Genet (2011) 1.04
Sept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in mice. Hum Mol Genet (2009) 1.01
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome. Genet Med (2013) 0.98
A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome. Res Dev Disabil (2013) 0.96
Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome. Biol Psychiatry (2013) 0.95
Adaptive strategy for the statistical analysis of connectomes. PLoS One (2011) 0.95
Functional outcomes of adults with 22q11.2 deletion syndrome. Genet Med (2012) 0.94
Social cognition in 22q11.2 microdeletion syndrome: relevance to psychosis? Schizophr Res (2012) 0.94
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome). Images Paediatr Cardiol (2005) 0.94
Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome. Psychiatry Res (2010) 0.94
Chromosomal phenotypes and submicroscopic abnormalities. Hum Genomics (2004) 0.91
Velo-Cardio-Facial Syndrome. J Ment Health Res Intellect Disabil (2009) 0.91
White matter abnormalities in 22q11.2 deletion syndrome: preliminary associations with the Nogo-66 receptor gene and symptoms of psychosis. Schizophr Res (2013) 0.90
COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome. Psychiatry Res (2010) 0.89
Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings. Behav Brain Funct (2012) 0.89
Depression and anxiety disorders in children and adolescents with velo-cardio-facial syndrome (VCFS). Eur Child Adolesc Psychiatry (2012) 0.89
Converging levels of analysis on a genomic hotspot for psychosis: insights from 22q11.2 deletion syndrome. Neuropharmacology (2012) 0.89
Alterations of social interaction through genetic and environmental manipulation of the 22q11.2 gene Sept5 in the mouse brain. Hum Mol Genet (2012) 0.88
Proline and COMT status affect visual connectivity in children with 22q11.2 deletion syndrome. PLoS One (2011) 0.88
Developmental trajectories in 22q11.2 deletion. Am J Med Genet C Semin Med Genet (2015) 0.88
22q11.2 deletion syndrome. Nat Rev Dis Prim (2015) 0.87
Schizophrenia and genetics: new insights. Curr Psychiatry Rep (2002) 0.86
White matter microstructural abnormalities of the cingulum bundle in youths with 22q11.2 deletion syndrome: associations with medication, neuropsychological function, and prodromal symptoms of psychosis. Schizophr Res (2014) 0.85
Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling. J Genet Couns (2010) 0.85
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. Eur J Pediatr (2013) 0.84
Is child intelligence associated with parent and sibling intelligence in individuals with developmental disorders? An investigation in youth with 22q11.2 deletion (velo-cardio-facial) syndrome. Res Dev Disabil (2014) 0.83
Associations between performance on the Rey-Osterrieth Complex Figure and regional brain volumes in children with and without velocardiofacial syndrome. Dev Neuropsychol (2008) 0.83
Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome. J Neurodev Disord (2010) 0.83
Factors affecting articulation skills in children with velocardiofacial syndrome and children with cleft palate or velopharyngeal dysfunction: a preliminary report. Cleft Palate Craniofac J (2008) 0.82
A cross-sectional study of the development of volitional control of spatial attention in children with chromosome 22q11.2 deletion syndrome. J Neurodev Disord (2012) 0.82
Treatment resistant psychosis in an adolescent with scoliosis and a history of early feeding difficulties. J Can Acad Child Adolesc Psychiatry (2006) 0.82
Neural substrates of inhibitory control deficits in 22q11.2 deletion syndrome. Cereb Cortex (2013) 0.81
Neural phenotypes of common and rare genetic variants. Biol Psychol (2008) 0.81
Applicability of the nonverbal learning disability paradigm for children with 22q11.2 deletion syndrome. J Learn Disabil (2012) 0.81
Divergent patterns of social cognition performance in autism and 22q11.2 deletion syndrome (22q11DS). J Autism Dev Disord (2013) 0.81
22q11.2 deletion syndrome: are motor deficits more than expected for IQ level? J Pediatr (2010) 0.81
Visuospatial working memory in children and adolescents with 22q11.2 deletion syndrome; an fMRI study. J Neurodev Disord (2009) 0.81
Genetic contributions to changes of fiber tracts of ventral visual stream in 22q11.2 deletion syndrome. Brain Imaging Behav (2013) 0.80
Long-range dysconnectivity in frontal and midline structures is associated to psychosis in 22q11.2 deletion syndrome. J Neural Transm (Vienna) (2016) 0.79
Mouse Models of 22q11.2-Associated Autism Spectrum Disorder. Autism Open Access (2012) 0.79
An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome. J Neurodev Disord (2015) 0.79
Children with chromosome 22q11.2 deletion syndrome exhibit impaired spatial working memory. Am J Intellect Dev Disabil (2014) 0.78
Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome. Transl Psychiatry (2012) 0.78
Altered development of the dorsolateral prefrontal cortex in chromosome 22q11.2 deletion syndrome: an in vivo proton spectroscopy study. Biol Psychiatry (2012) 0.78
Cognitive remediation for adolescents with 22q11 deletion syndrome (22q11DS): a preliminary study examining effectiveness, feasibility, and fidelity of a hybrid strategy, remote and computer-based intervention. Schizophr Res (2015) 0.77
PRODH rs450046 and proline x COMT Val¹⁵⁸ Met interaction effects on intelligence and startle in adults with 22q11 deletion syndrome. Psychopharmacology (Berl) (2015) 0.77
Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians. J Genet Couns (2012) 0.77
Quality of life among children with velocardiofacial syndrome. Cleft Palate Craniofac J (2010) 0.77
Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome. J Dev Behav Pediatr (2015) 0.76
Case report: two patients with partial DiGeorge syndrome presenting with attention disorder and learning difficulties. J Clin Res Pediatr Endocrinol (2011) 0.76
Facial emotion perception by intensity in children and adolescents with 22q11.2 deletion syndrome. Eur Child Adolesc Psychiatry (2015) 0.76
Cognition, psychosocial adjustment and coping in familial cases of velocardiofacial syndrome. J Neural Transm (Vienna) (2007) 0.75
The use of two different MLPA kits in 22q11.2 deletion syndrome. Eur J Med Genet (2016) 0.75
Potential Role of Cortisol in Social and Memory Impairments in Individuals with 22q11.2 Deletion Syndrome. J Pediatr Genet (2016) 0.75
[Microdeletion syndromes (Williams syndrome and deletion syndrome 22q11) at CHU Hassan II of Fez: report of 3 observations]. Pan Afr Med J (2012) 0.75
The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome. Curr Opin Psychiatry (2016) 0.75
Discrepancies in parent and teacher ratings of social-behavioral functioning of children with chromosome 22q11.2 deletion syndrome: implications for assessment. Am J Intellect Dev Disabil (2013) 0.75
Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome. J Intellect Disabil Res (2013) 0.75
Childhood Predictors of Young Adult Social Functioning in 22q11.2 Deletion Syndrome. J Autism Dev Disord (2017) 0.75
Velocardiofacial syndrome presenting as distal arthrogryposis. Eur J Pediatr (2004) 0.75
Machine-learning classification of 22q11.2 deletion syndrome: A diffusion tensor imaging study. Neuroimage Clin (2017) 0.75
Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology. J Autism Dev Disord (2017) 0.75
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J (1978) 4.23
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet (1992) 4.07
Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet (1992) 3.10
Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet (1993) 2.93
The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics (1981) 2.64
Brain anomalies in velo-cardio-facial syndrome. Am J Med Genet (1994) 1.99
Velo-cardio-facial syndrome: language and psychological profiles. J Craniofac Genet Dev Biol (1985) 1.93
Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise. J Med Genet (1991) 1.77
Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr (1993) 1.38
Neuropsychological aspects of Turner's syndrome. Dev Med Child Neurol (1979) 1.15
The neuropsychological phenotype in Turner syndrome. Cortex (1985) 1.10
Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134). J Med Genet (1993) 1.08
The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease. Eur J Pediatr (1996) 1.00
Intelligence, behaviour and psychosocial development in Turner syndrome. A cross-sectional study of 50 pre-adolescent and adolescent girls (4-20 years). Genet Couns (1993) 0.93
Total cavopulmonary connection: a logical alternative to atriopulmonary connection for complex Fontan operations. Experimental studies and early clinical experience. J Thorac Cardiovasc Surg (1988) 6.83
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet (2009) 3.87
SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet (1998) 3.82
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet (2006) 3.70
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. Hum Mol Genet (1997) 3.56
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet (2008) 3.35
A toddler with Down syndrome, hypercalcaemia, hypercalciuria, medullary nephrocalcinosis and renal failure. Pediatr Nephrol (1995) 3.12
GATA3 haplo-insufficiency causes human HDR syndrome. Nature (2000) 2.73
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet (2001) 2.70
Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature (1974) 2.56
Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)) Clin Genet (1990) 2.50
The Greig polysyndactyly craniofacial dysmorphism syndrome: variable expression in a family. Eur J Pediatr (1981) 2.50
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature (1998) 2.36
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet (1999) 2.23
The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet (1998) 2.16
PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet (2001) 2.14
Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity. Am J Med Genet (1991) 2.13
MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet (2001) 2.12
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet (2000) 2.10
Protein-losing enteropathy after the Fontan operation: an international multicenter study. PLE study group. J Thorac Cardiovasc Surg (1998) 2.07
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet (2000) 1.97
Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24). Hum Genet (1977) 1.93
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet (1999) 1.92
PTPN11 mutations in LEOPARD syndrome. J Med Genet (2002) 1.91
Transapical left ventricular access for difficult to reach interventional targets in the left heart. Catheter Cardiovasc Interv (2009) 1.89
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet (1999) 1.88
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet (2000) 1.86
Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of the test result on reproductive decision making. J Med Genet (1996) 1.84
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet (2001) 1.84
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III. Am J Hum Genet (2000) 1.80
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet (1979) 1.79
Human chromosome fragility. Biochim Biophys Acta (2007) 1.77
New lethal acrofacial dysostosis syndrome. Am J Med Genet (1991) 1.70
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet (1993) 1.68
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet (1999) 1.68
Complex chromosomal rearrangements (CCR) and their genetic consequences. J Genet Hum (1982) 1.68
Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology (2003) 1.67
Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequences with pathogenetic overlap. Am J Med Genet (1992) 1.65
Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet (2003) 1.62
Rheologic genesis of discrete subvalvular aortic stenosis: a Doppler echocardiographic study. J Am Coll Cardiol (1992) 1.62
Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet (1998) 1.62
Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet (2001) 1.61
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2) Am J Med Genet (1990) 1.61
Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol (1995) 1.59
Linkage analysis in three families with nonspecific X-linked mental retardation. Am J Med Genet (1996) 1.59
DNMT3B mutations and DNA methylation defect define two types of ICF syndrome. Hum Mutat (2005) 1.59
Effect of percutaneous fenestration of the atrial septum on protein-losing enteropathy after the Fontan operation. Br Heart J (1994) 1.58
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet (2000) 1.57
Mental status of females with an FMR1 gene full mutation. Am J Hum Genet (1996) 1.57
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet (1999) 1.56
The XYY syndrome: a follow-up study on 38 boys. Genet Couns (2003) 1.55
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet (2004) 1.55
Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? Am J Med Genet (1996) 1.54
Preimplantation genetic diagnosis for an insertional translocation carrier. Hum Reprod (2004) 1.53
ALCAPA syndrome: an example of chronic myocardial hypoperfusion? J Am Coll Cardiol (1994) 1.52
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet (2005) 1.52
Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force. Neurology (1997) 1.52
Predictive testing for Huntington's disease: risk perception, reasons for testing and psychological profile of test applicants. Genet Couns (1995) 1.51
Paracentric Inversion in man: personal experience and review of the literature. Hum Genet (1980) 1.50
Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. Am J Med Genet (2000) 1.49
Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect. Am J Med Genet (1987) 1.49
Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood (2001) 1.47
Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome. Clin Genet (1990) 1.47
Selective advantage of fra (X) heterozygotes. Hum Genet (1990) 1.47
Cowden syndrome. J Med Genet (1995) 1.45
Genotype prediction in the fragile X syndrome. J Med Genet (1991) 1.45
Cardiorespiratory exercise function after the arterial switch operation for transposition of the great arteries. Eur Heart J (2001) 1.44
McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period. Eur J Pediatr (1992) 1.44
Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome. Genet Couns (1998) 1.43
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet (1994) 1.43
Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Genes Chromosomes Cancer (2006) 1.41
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet (2000) 1.41
Fryns syndrome: another example of non-lethal outcome with severe mental handicap. Genet Couns (1992) 1.40
VACTERL with hydrocephalus. A distinct entity with a variable spectrum of multiple congenital anomalies. Genet Couns (1993) 1.40
The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriers. Clin Genet (1990) 1.40
Mental retardation with pterygia, shortness and distinct facial appearance. A new MCA/MR syndrome. Clin Genet (1985) 1.40
Symbrachydactyly involving hands and feet. Genet Couns (1998) 1.40
Graft dilation after redo surgery for aneurysm formation following patch angioplasty for aortic coarctation. Eur J Cardiothorac Surg (2001) 1.40
Unequal meiotic crossover: a frequent cause of NF1 microdeletions. Am J Hum Genet (2000) 1.40
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet (2005) 1.39
Early development (5 to 48 months) in Williams syndrome. A study of 14 children. Genet Couns (1999) 1.39
On the familial occurrence of congenital bilateral absence of vas deferens. Clin Genet (1989) 1.38
The Coffin syndrome. Hum Genet (1977) 1.38
Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet (1987) 1.37
Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update. J Intellect Disabil Res (2007) 1.37