Published in Clin Diagn Lab Immunol on September 01, 2002
Therapeutic vaccination using CD4+CD25+ antigen-specific regulatory T cells. Proc Natl Acad Sci U S A (2004) 1.69
Imbalance of regulatory T cells in human autoimmune diseases. Immunology (2006) 1.64
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol (2010) 1.04
IPEX and the role of Foxp3 in the development and function of human Tregs. J Clin Invest (2006) 1.04
Maturational alterations of peripheral T cell subsets and cytokine gene expression in 22q11.2 deletion syndrome. Clin Exp Immunol (2006) 0.99
Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. Front Immunol (2013) 0.89
The impact of aging on regulatory T-cells. Front Immunol (2013) 0.89
22q11.2 deletion syndrome. Nat Rev Dis Prim (2015) 0.87
Regulatory T-Cell Development in the Human Thymus. Front Immunol (2015) 0.85
Regulatory T cells and their role in rheumatic diseases: a potential target for novel therapeutic development. Pediatr Rheumatol Online J (2008) 0.83
Assessment of regulatory T cells in childhood immune thrombocytopenic purpura. ISRN Hematol (2013) 0.80
A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome). J Clin Immunol (2011) 0.80
Increase of CD4(+)CD25(+) T cells in Smad3(-/-) mice. World J Gastroenterol (2006) 0.79
Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. Clin Exp Immunol (2008) 0.77
Helios expression in T-regulatory cells in patients with di George Syndrome. J Clin Immunol (2014) 0.76
DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood. Case Rep Med (2013) 0.75
Thymic selection of CD4+CD25+ regulatory T cells induced by an agonist self-peptide. Nat Immunol (2001) 12.00
CD4+CD25high regulatory cells in human peripheral blood. J Immunol (2001) 11.25
Autoimmune disease as a consequence of developmental abnormality of a T cell subpopulation. J Exp Med (1996) 8.54
Regulatory T cells in the control of immune pathology. Nat Immunol (2001) 6.98
Certified professionals: CD4(+)CD25(+) suppressor T cells. J Exp Med (2001) 3.39
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr (2001) 1.50
Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol (1998) 1.29
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med (2011) 8.26
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet (2002) 6.29
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res (2009) 4.32
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet (2010) 3.64
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet (2007) 3.26
Human chromosome 7: DNA sequence and biology. Science (2003) 3.02
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA (2009) 2.72
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet (2008) 2.68
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet (2008) 2.59
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet (2002) 2.50
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion? Cleft Palate Craniofac J (2003) 2.37
Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery. J Thorac Cardiovasc Surg (2003) 2.25
Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry (2014) 2.15
A mechanism for gene-environment interaction in the etiology of congenital scoliosis. Cell (2012) 2.08
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A (2006) 1.94
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet (2002) 1.88
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord (2005) 1.87
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst (2003) 1.83
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet (2003) 1.82
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics (2008) 1.80
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. Am J Med Genet (2002) 1.61
Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study. Neuroimage (2005) 1.55
Clinical and molecular diagnosis should be consistent. Am J Med Genet A (2003) 1.44
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A (2011) 1.43
Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion. Am J Med Genet A (2004) 1.40
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A (2006) 1.38
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet (2012) 1.33
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays. Hum Mutat (2006) 1.31
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Am J Hum Genet (2010) 1.30
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Am J Med Genet A (2009) 1.27
Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy? J Thorac Cardiovasc Surg (2010) 1.24
Tracheal anomalies in Pfeiffer syndrome. Arch Otolaryngol Head Neck Surg (2004) 1.23
Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cereb Cortex (2008) 1.15
Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet A (2009) 1.14
A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children. Dev Psychopathol (2005) 1.13
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A (2008) 1.12
Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome. Dev Sci (2005) 1.10
Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev (2008) 1.08
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. Am J Med Genet A (2007) 1.07
Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. J Pediatr (2003) 1.07
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. Am J Med Genet A (2012) 1.06
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
The 22q11.2 deletion in African-American patients: an underdiagnosed population? Am J Med Genet A (2005) 1.05
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. Am J Med Genet A (2013) 1.05
Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet A (2010) 1.05
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet (2009) 1.04
T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood (2003) 1.04
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. Am J Med Genet A (2004) 1.04
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genet A (2008) 1.03
Autoimmune disorders in Kabuki syndrome. Am J Med Genet A (2005) 1.02
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. Am J Med Genet A (2003) 1.01
Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Am J Med Genet A (2004) 1.00
Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet A (2008) 0.99
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A (2004) 0.99
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A (2010) 0.99
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Am J Med Genet A (2006) 0.98
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Am J Med Genet A (2014) 0.98
Autosomal dominant inheritance of infantile myofibromatosis. Am J Med Genet A (2004) 0.96
Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome. J Affect Disord (2009) 0.96
Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome. Neurosci Lett (2006) 0.95
Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome. Brain Res (2006) 0.95
Metopic craniosynostosis due to mutations in GLI3: A novel association. Am J Med Genet A (2010) 0.94
A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. Eur J Med Genet (2008) 0.92
A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome. Am J Med Genet A (2009) 0.92
Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease. Pediatr Allergy Immunol (2005) 0.92
The changing epidemiologic spectrum of single-suture synostoses. Plast Reconstr Surg (2008) 0.91
Toriello-Carey syndrome: delineation and review. Am J Med Genet A (2003) 0.91
Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Pediatrics (2003) 0.91
Molecular analysis of congenital scoliosis: a candidate gene approach. Hum Genet (2005) 0.91
Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis. Am J Med Genet B Neuropsychiatr Genet (2011) 0.90
Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A (2005) 0.90
Otolaryngologic manifestations of the 22q11.2 deletion syndrome. Arch Otolaryngol Head Neck Surg (2002) 0.90
Chromosomal and cardiovascular anomalies associated with congenital laryngeal web. Int J Pediatr Otorhinolaryngol (2002) 0.90
Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis. J Pediatr Orthop (2004) 0.89
Ablepharon-Macrostomia syndrome--extension of the phenotype. Am J Med Genet A (2011) 0.89
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. Plast Reconstr Surg (2008) 0.89
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. Am J Med Genet A (2012) 0.89
Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Med Genet A (2008) 0.89
Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome. J Bone Joint Surg Am (2004) 0.89
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A (2013) 0.88
Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet A (2009) 0.88
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. Am J Med Genet A (2007) 0.88
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. Am J Med Genet A (2012) 0.88
Developmental trajectories in 22q11.2 deletion. Am J Med Genet C Semin Med Genet (2015) 0.88
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A (2014) 0.87
Paternal origin of the de novo constitutional t(11;22)(q23;q11). Eur J Hum Genet (2010) 0.87