digeorge syndrome

Summary

Summary: Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 21q11.2 or mutation in the TBX1 gene.

Top Publications

  1. pmc Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
    Beverly S Emanuel
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
    Dev Disabil Res Rev 14:11-8. 2008
  2. ncbi 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development
    Peter J Scambler
    Molecular Medicine Unit, Institute of Child Health, 30, Guilford St, London WC1N 1EH, UK
    Pediatr Cardiol 31:378-90. 2010
  3. ncbi Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
    Donna M McDonald-McGinn
    The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Medicine (Baltimore) 90:1-18. 2011
  4. ncbi Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome
    Tamar Green
    Sackler Faculty of Medicine, Tel Aviv University, Israel
    J Am Acad Child Adolesc Psychiatry 48:1060-8. 2009
  5. ncbi Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage
    Jun Liao
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Hum Mol Genet 13:1577-85. 2004
  6. pmc Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
    W Gong
    J Med Genet 38:E45. 2001
  7. ncbi Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract
    Huansheng Xu
    Program in Cardiovascular Sciences, Baylor College of Medicine, Houston, TX 77030, USA
    Development 131:3217-27. 2004
  8. ncbi Developing models of DiGeorge syndrome
    J A Epstein
    BRB II, Room 954, Cardiovascular Division, Dept of Medicine, University of Pennsylvania Health System, 421 Curie Boulevard, Philadelphia, PA 19104, USA
    Trends Genet 17:S13-7. 2001
  9. ncbi Mouse models of 22q11 deletion syndrome
    Richard Paylor
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Biol Psychiatry 59:1172-9. 2006
  10. pmc Velo-cardio-facial syndrome: 30 Years of study
    Robert J Shprintzen
    Department of Otolaryngology and Communication Science, Velo Cardio Facial Syndrome International Center, State University of New York, Upstate Medical University, Syracuse, NY 13210, USA
    Dev Disabil Res Rev 14:3-10. 2008

Detail Information

Publications320 found, 100 shown here

  1. pmc Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements
    Beverly S Emanuel
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
    Dev Disabil Res Rev 14:11-8. 2008
    ....
  2. ncbi 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development
    Peter J Scambler
    Molecular Medicine Unit, Institute of Child Health, 30, Guilford St, London WC1N 1EH, UK
    Pediatr Cardiol 31:378-90. 2010
    ..This article summarises the tissue specific and temporal requirements for Tbx1, and attempts to synthesis what is know about the developmental pathways under its control...
  3. ncbi Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
    Donna M McDonald-McGinn
    The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Medicine (Baltimore) 90:1-18. 2011
    Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome...
  4. ncbi Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome
    Tamar Green
    Sackler Faculty of Medicine, Tel Aviv University, Israel
    J Am Acad Child Adolesc Psychiatry 48:1060-8. 2009
    ..We report the data from two large cohorts of individuals with VCFS from Israel and Western Europe to characterize the neuropsychiatric phenotype from childhood to adulthood in a large sample...
  5. ncbi Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage
    Jun Liao
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Hum Mol Genet 13:1577-85. 2004
    Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is associated with de novo hemizygous 22q11.2 deletions and is characterized by malformations attributed to abnormal development of the pharyngeal arches and pouches...
  6. pmc Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
    W Gong
    J Med Genet 38:E45. 2001
  7. ncbi Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract
    Huansheng Xu
    Program in Cardiovascular Sciences, Baylor College of Medicine, Houston, TX 77030, USA
    Development 131:3217-27. 2004
    ..of the cardiac outflow tract (OFT) causes many congenital heart defects, including those associated with DiGeorge syndrome. Genetic manipulation in the mouse and mutational analysis in patients have shown that Tbx1, a T-box ..
  8. ncbi Developing models of DiGeorge syndrome
    J A Epstein
    BRB II, Room 954, Cardiovascular Division, Dept of Medicine, University of Pennsylvania Health System, 421 Curie Boulevard, Philadelphia, PA 19104, USA
    Trends Genet 17:S13-7. 2001
    b>DiGeorge syndrome is a common congenital disorder characterized by neural-crest-related developmental defects. Mouse models of DiGeorge syndrome have been created that recapitulate defects seen in human patients...
  9. ncbi Mouse models of 22q11 deletion syndrome
    Richard Paylor
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Biol Psychiatry 59:1172-9. 2006
    ..Significant progress has already been made, and recent studies in the mouse suggest that several genes from the deleted region affect behavior and might contribute to disease burden in patients...
  10. pmc Velo-cardio-facial syndrome: 30 Years of study
    Robert J Shprintzen
    Department of Otolaryngology and Communication Science, Velo Cardio Facial Syndrome International Center, State University of New York, Upstate Medical University, Syracuse, NY 13210, USA
    Dev Disabil Res Rev 14:3-10. 2008
    ..Therefore, interest in understanding the nature of psychiatric illness in the syndrome remains strong...
  11. ncbi Genetic counseling for the 22q11.2 deletion
    Donna M McDonald-McGinn
    Division of Human Genetics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Dev Disabil Res Rev 14:69-74. 2008
    ..With this in mind, a variety of prenatal monitoring techniques, as well as, preimplantation genetic diagnosis are available depending on the specific level of risk...
  12. ncbi Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): a cross-sectional and longitudinal study
    Marie Schaer
    Service Médico Pédagogique, Department of Psychiatry, Geneva Faculty of Medicine, CH 1211 Geneva 8, Switzerland
    Schizophr Res 115:182-90. 2009
    ....
  13. pmc Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome
    M Teresa de la Morena
    Department of Pediatrics, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390 9063, USA
    Clin Immunol 147:11-22. 2013
    ..In summary, microRNA profiling of chromosome 22q11.2 deletion syndrome/DiGeorge patients revealed a signature microRNA expression pattern distinct from normal controls with clinical relevance...
  14. pmc A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome
    Stephen R Hooper
    Department of Psychiatry and the Carolina Institute for Developmental Disabilities, University of North Carolina School of Medicine, CB 7255, Chapel Hill, NC 27599 7255, USA
    Res Dev Disabil 34:1758-69. 2013
    ..These findings begin to elucidate the trajectory of changes in psychopathology in children with 22q11DS in the years leading up to the onset of major psychiatric illnesses...
  15. ncbi GABA(B) receptor subunit 1 binds to proteins affected in 22q11 deletion syndrome
    Dagmar Zunner
    Center for Molecular Neurobiology, University of Hamburg, Germany
    Biochem Biophys Res Commun 393:185-9. 2010
    ..domain, can also bind to soluble proteins of unknown function, that are affected in 22q11 deletion/DiGeorge syndrome and are therefore referred to as DiGeorge critical region 6 (DGCR6)...
  16. ncbi Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2
    Paula Sandrin-Garcia
    Molecular Immunogenetics Group, Department of Genetics, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo USP, Ribeirao Preto, SP, Brazil
    Mol Cell Biochem 303:9-17. 2007
    ..Our findings demonstrated that independently of their size, any deletion occurring in the VCFS critical region is enough to confer the patient phenotype...
  17. pmc Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients
    Tingwei Guo
    Department of Genetics, Ob Gyn and Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA
    Hum Mutat 32:1278-89. 2011
    ..This work demonstrates that common DNA variations in TBX1 do not explain variable cardiovascular expression in 22q11DS patients, implicating existence of modifiers in other genes on 22q11.2 or elsewhere in the genome...
  18. ncbi Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome
    Kathleen E Sullivan
    Division of Allergy and Immunology, The Children s Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104 4399, USA
    Immunol Allergy Clin North Am 28:353-66. 2008
    b>DiGeorge syndrome, or chromosome 22q11.2 deletion syndrome, is a disorder affecting multiple organ systems...
  19. pmc Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome
    Daniel W Meechan
    Department of Cell and Molecular Physiology and Neuroscience Center, University of North Carolina School of Medicine, Chapel Hill, NC 27599, USA
    Proc Natl Acad Sci U S A 106:16434-45. 2009
    ..Such developmental disruption may alter cortical circuitry and establish vulnerability for developmental disorders, including schizophrenia and autism...
  20. ncbi Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion)
    Kevin M Antshel
    State University of New York Upstate Medical University, Syracuse, NY, USA
    J Autism Dev Disord 37:1776-86. 2007
    ..Children with VCFS + ASD had larger right amygdala volumes. All other neuroanatomic regions of interest were statistically similar between the two groups...
  21. pdf Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome
    Doron Gothelf
    Department of Child Psychiatry, Schneider Children s Medical Center of Israel, Petah Tiqwa, Israel 49202
    Am J Psychiatry 164:663-9. 2007
    ..The authors conducted a longitudinal evaluation of adolescents with 22q11.2 deletion syndrome to identify early risk factors for the development of psychotic disorders...
  22. ncbi Neural crest and cardiovascular development: a 20-year perspective
    Mary Redmond Hutson
    Neonatal Perinatal Research Institute, Division of Neonatology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA
    Birth Defects Res C Embryo Today 69:2-13. 2003
    ..Ablation of this region in chick resulted in persistent truncus arteriosus, mispatterning of the great vessels, outflow malalignments, and hypoplasia or aplasia of the pharyngeal glands...
  23. ncbi Role of TBX1 in human del22q11.2 syndrome
    Hisato Yagi
    Division of Genomic Medicine, Institute of Advanced Biomedical Engineering and Science, Graduate School of Medicine, Tokyo Women s Medical University, Tokyo, Japan
    Lancet 362:1366-73. 2003
    ..At least 30 genes have been mapped to the deleted region. However, the association of these genes with the cause of this syndrome is not clearly understood...
  24. pmc DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart looping and differentiation
    Priya Choudhry
    Huntsman Cancer Institute, Department of Oncological Sciences, University of Utah, Salt Lake City, Utah, United States of America
    PLoS ONE 8:e58145. 2013
    b>DiGeorge syndrome (DGS) is the most common microdeletion syndrome, and is characterized by congenital cardiac, craniofacial and immune system abnormalities...
  25. pmc Epigenetic mechanisms in cardiac development and disease
    Marcus Vallaster
    Cardiovascular Research Center, Massachusetts General Hospital, Boston, 02114, USA
    Acta Biochim Biophys Sin (Shanghai) 44:92-102. 2012
    ..Furthermore, we speculate that an epigenetic signature, comprised of TF occupancy, histone modifications, and overall chromatin organization, is an underlying mechanism that governs cardiac morphogenesis and disease...
  26. ncbi Neuropathologic features in adults with 22q11.2 deletion syndrome
    T R Kiehl
    Department of Pathology, University Health Network, Toronto, ON M5G 2C4, Canada
    Cereb Cortex 19:153-64. 2009
    ..Both early developmental brain abnormalities and fetal and later microvascular pathology may play a role in the pathogenesis of the neuropsychiatric phenotype of 22qDS, including white matter abnormalities and schizophrenia...
  27. pmc Inactivation of TGFbeta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome
    Heiko Wurdak
    Institute of Cell Biology, Department of Biology, Swiss Federal Institute of Technology, ETH Honggerberg, Zurich, CH 8093, Switzerland
    Genes Dev 19:530-5. 2005
    ..All these malformations characterize DiGeorge syndrome, the most common microdeletion syndrome in humans...
  28. ncbi Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation
    Jason Z Stoller
    Division of Neonatology, Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Hum Mol Genet 14:885-92. 2005
    b>DiGeorge syndrome (DGS) is the most common human chromosomal deletion syndrome and is frequently associated with deletions on chromosome 22q11...
  29. pmc Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: a 3-year follow-up study
    Kevin M Antshel
    Department of Psychiatry and Behavioral Sciences, State University of New York Upstate Medical University, Syracuse, NY 13210, USA
    J Am Acad Child Adolesc Psychiatry 49:333-44. 2010
    ..To predict prodromal psychosis in adolescents with velocardiofacial syndrome (VCFS)...
  30. pmc MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome
    Anne K Voss
    The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia
    Dev Cell 23:652-63. 2012
    b>DiGeorge syndrome, caused by a 22q11 microdeletion or mutation of the TBX1 gene, varies in severity greatly, even among monozygotic twins...
  31. ncbi Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
    P J Scambler
    Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, London, UK
    Lancet 339:1138-9. 1992
    The large clinical overlap between DiGeorge syndrome and velo-cardio-facial syndrome suggests an aetiological connection...
  32. ncbi 22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man
    Z Cao
    Departments of Diabetes and Endocrine Services General Medicine Radiology Cytogenetics Services Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, Tasmania, Australia
    Intern Med J 41:63-6. 2011
    ..2. The extraordinary feature of this case is the adult presentation of hypocalcaemia, hypoparathyroidism and basal ganglia calcification due to 22q11.2 deletion...
  33. pmc Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1
    Jingjing Zhou
    Broad Center for Regenerative Medicine and Stem Cell Research, University of Southern California Keck School of Medicine, Los Angeles, California, United States of America
    PLoS ONE 7:e32429. 2012
    The spectrum of human congenital malformations known as DiGeorge syndrome (DGS) is replicated in mice by mutation of Tbx1...
  34. ncbi Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
    Sarah E Prasad
    Department of Psychiatry, Royal College of Surgeons in Ireland, Education and Research Centre, Beaumont Hospital, Dublin 9, Republic of Ireland
    Dev Disabil Res Rev 14:26-34. 2008
    ..The study of 22q11.2DS provides an attractive model to increase our understanding of the development and pathogenesis of schizophrenia and other psychiatric disorders in 22q11.2DS and in wider population...
  35. pmc Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome
    Vandana Shashi
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA
    Psychiatry Res 181:1-8. 2010
    ..The correlation of these volumetric reductions with poor neurocognition indicates that these brain regions may mediate higher neurocognitive functions implicated in schizophrenia...
  36. ncbi Velo-cardio-facial syndrome
    Robert J Shprintzen
    Center for the Diagnosis, Treatment and Study of Velo Cardio Facial Syndrome, Department of Otolaryngology and Communication Sciences, State University of New York Upstate Medical University, Syracuse, New York 13210, USA
    Curr Opin Pediatr 17:725-30. 2005
    ..In this review, we cover multiple areas of research during the past year, including psychiatric disorders, neuroimaging, and the delineation of clinical features...
  37. pmc Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
    M Pierdominici
    Laboratory of Cell Biology, Istituto Superiore di Sanita, Rome, Italy
    Clin Exp Immunol 132:323-31. 2003
    Chromosome 22q11.2 deletion (del22q11.2) syndrome (DiGeorge syndrome/velocardiofacial syndrome) is a common syndrome typically consisting of congenital heart disease, hypoparathyroidism, developmental delay and immunodeficiency...
  38. pmc Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus
    Yue Juan Xu
    Department of Pediatric Cardiology, Shanghai Children s Medical Center Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200127, China
    BMC Med Genet 12:169. 2011
    ..The aim of study was to determine the incidence of the 22q11.2 deletion in Chinese patients with CTDs and the possible mechanism for pathogenesis of CTDs...
  39. ncbi 22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome
    Thomas M Maynard
    Department of Cell and Molecular Physiology, CB 7545, UNC School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA
    Int J Dev Neurosci 20:407-19. 2002
    ....
  40. ncbi Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome
    Carrie E Bearden
    Children s Hospital of Philadelphia, Department of Child Development, USA
    Am J Psychiatry 161:1700-2. 2004
    ..The goal of the present study was to examine COMT genotype as a predictor of prefrontal cognitive function in patients with 22q11.2 deletion syndrome...
  41. ncbi The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective
    Kevin M Antshel
    Department of Psychiatry and Behavioral Sciences, State University of New York, Upstate Medical University, Syracuse, NY 13210, USA
    Dev Disabil Res Rev 14:43-51. 2008
    ..We propose several considerations that could advance our knowledge of developmental changes in the VCFS cognitive phenotype. The most salient of these is the need for more longitudinal designs with carefully matched control participants...
  42. pmc Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH
    D C Bittel
    Children s Mercy Hospitals and Clinics, University of Missouri Kansas City School of Medicine, Kansas City, MO 64108, USA
    Cytogenet Genome Res 124:113-20. 2009
    ..036 to 17.398 Mb. This region includes the genes DGCR6 (DiGeorge syndrome critical region protein 6) and PRODH (proline dehydrogenase 1), along with three open reading frames that ..
  43. ncbi DiGeorge syndrome and pharyngeal apparatus development
    Heiko Wurdak
    Institute of Cell Biology, Department of Biology, ETH Zurich, ETH Honggerberg, Zurich, Switzerland
    Bioessays 28:1078-86. 2006
    b>DiGeorge syndrome is the most frequent microdeletion syndrome in humans, and is characterized by cardiovascular, thymic and parathyroid, and craniofacial anomalies...
  44. pmc Beta-catenin deficiency causes DiGeorge syndrome-like phenotypes through regulation of Tbx1
    Sung Ho Huh
    Department of Developmental Biology, Washington University School of Medicine, St Louis, MO, USA
    Development 137:1137-47. 2010
    b>DiGeorge syndrome (DGS) is a common genetic disease characterized by pharyngeal apparatus malformations and defects in cardiovascular, craniofacial and glandular development...
  45. pmc Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome
    Usha T Sundaram
    Department of Human Genetics, Virginia Commonwealth University, Medical College of Virginia, Richmond, Virginia, USA
    Am J Med Genet A 143:2016-8. 2007
    ..The diagnosis of 22q11.2 deletion may be considered in a female with Mullerian agenesis, particularly, in association with a history of learning difficulties and speech delay...
  46. ncbi A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population
    Lorenzo D Botto
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Pediatrics 112:101-7. 2003
    ..Our goals were to assess the population-based birth prevalence of the 22q11.2 deletion and its associated phenotype and its impact on the occurrence of heart defects...
  47. ncbi TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome
    S Merscher
    Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, 10461, Bronx, NY, USA
    Cell 104:619-29. 2001
    Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterized by a number of phenotypic features including cardiovascular defects. Most VCFS/DGS patients are hemizygous for a 1.5-3.0 Mb region of 22q11...
  48. ncbi Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome
    M Louise Markert
    Department of Pediatrics, Human Vaccine Institute, Duke University Medical Center, Durham, NC 27710, USA
    Blood 104:2574-81. 2004
    Complete DiGeorge syndrome is a fatal congenital disorder characterized by athymia, hypoparathyroidism, and heart defects. Less than half of patients are 22q11 hemizygous...
  49. pmc Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome
    Jacob A S Vorstman
    Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, University Medical Center Utrecht, Utrecht, The Netherlands
    Am J Med Genet B Neuropsychiatr Genet 150:430-3. 2009
    ..Second, the results of this study indicate that variation at PIK4CA may be a relevant factor influencing the risk of schizophrenia in individuals with 22q11DS...
  50. ncbi Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome
    D L Guris
    The Ben May Institute for Cancer Research and Center for Molecular Oncology, The University of Chicago, Chicago, Illinois, USA
    Nat Genet 27:293-8. 2001
    ..The similarity between the Crkol-/- phenotype and the clinical manifestations of DGS/VCFS implicate defects in CRKL-mediated signaling pathways as part of the molecular mechanism underlying this syndrome...
  51. pmc Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: a phenotype correlation study
    Marcia A Friedman
    Velo Cardio Facial Syndrome International Center, Department of Otolaryngology and Communication Sciences, SUNY Upstate Medical University, 725 Irving Avenue, Suite 406, Syracuse, NY 13210, United States
    Int J Pediatr Otorhinolaryngol 75:1167-72. 2011
    ..The purpose of this study is to determine if congenital heart disease and cleft palate are correlated in a large cohort of human subjects with VCFS...
  52. ncbi TBX1 is required for inner ear morphogenesis
    Francesca Vitelli
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 12:2041-8. 2003
    TBX1 is thought to be a critical gene in the pathogenesis of del22q11/DiGeorge syndrome (DGS). Morphological abnormalities of the external ear and hearing impairment (conductive or sensorineural) affect the majority of patients...
  53. ncbi Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome)
    Giles M Tan
    Section of Brain Maturation, Division of Psychological Medicine and Psychiatry, Institute of Psychiatry at the Maudsley, King s College London, De Crespigny Park, London, United Kingdom
    Schizophr Res 115:173-81. 2009
    22q11.2 deletion syndrome (22q11.2DS), also known as velocardiofacial syndrome (VCFS) or DiGeorge Syndrome, is a genetic disorder due to a micro deletion on chromosome 22q11.2...
  54. ncbi Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features
    S Kitsiou-Tzeli
    Medical Genetics, Athens University School of Medicine, Athens, Greece
    In Vivo 18:603-8. 2004
    ..Genetic reevaluation of 39 patients without the 22q11.2 deletion contributed to the classification of 14 (37%) under different syndromes, emphasizing the need for stricter referral criteria...
  55. pmc MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q
    J A S Vorstman
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Hum Mutat 27:814-21. 2006
    ..2 region, making it a fast and economic alternative to currently used methods. The current study provides valuable and detailed information on the characteristics of this novel method...
  56. pmc Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?
    David K Cundiff
    Department of Internal Medicine, Los Angeles County, USC Medical Center, Los Angeles, CA, USA
    Nutr J 5:1. 2006
    ..Both parents declined plea bargains and plan to defend themselves in court...
  57. ncbi Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments
    R Paylor
    Department of Molecular and Human Genetics, Division of Neuroscience, Baylor College of Medicine, One Baylor Plaza, 325D, Houston, TX 77030, USA
    Hum Mol Genet 10:2645-50. 2001
    ..These findings not only open the way to pharmacological analyses that may lead to improved treatments, but also to the identification of gene/s that modulate these specific behaviors in humans...
  58. ncbi 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes
    B F Cuneo
    Heart Institute for Children, Department of Pediatrics, Hope Children s Hospital, University of Illinois at Chicago, Chicago, Illinois 60045, USA
    Curr Opin Pediatr 13:465-72. 2001
    A microdeletion of chromosome 22q11.2 is found in most patients with velocardiofacial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome, and in some patients with Cayler cardiofacial and autosomal dominant Opitz-G/BBB ..
  59. ncbi The role of chordin/Bmp signals in mammalian pharyngeal development and DiGeorge syndrome
    Daniel Bachiller
    Howard Hughes Medical Institute and Department of Biological Chemistry, University of California, Los Angeles, CA 90095 1662, USA
    Development 130:3567-78. 2003
    ..The chordin mutation provides a mouse model for head and neck congenital malformations that frequently occur in humans and suggests that chordin/Bmp signaling may participate in their pathogenesis...
  60. ncbi A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region
    V Lamour
    Laboratoire de Biologie des Tumeurs Humaines, CNRS URA 1156, Institut Gustave Roussy, Villejuif, France
    Hum Mol Genet 4:791-9. 1995
    The DiGeorge syndrome (DGS) is a developmental disorder affecting derivatives of the third and fourth pharyngeal pouches. DGS patients present an interstitial deletion in one of their two chromosomes 22...
  61. ncbi VEGF: a modifier of the del22q11 (DiGeorge) syndrome?
    Ingeborg Stalmans
    The Center for Transgene Technology and Gene Therapy, Flanders Interuniversity Institute for Biotechnology, Katholieke Universiteit Leuven, Leuven, Belgium
    Nat Med 9:173-82. 2003
    ..These genetic data in mouse, fish and human indicate that VEGF is a modifier of cardiovascular birth defects in the del22q11 syndrome...
  62. ncbi Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study
    Naama Barnea-Goraly
    Behavioral Sciences, Stanford University School of Medicine, Stanford, Calif, USA
    Am J Psychiatry 160:1863-9. 2003
    ..The current study used diffusion tensor imaging to investigate white matter structure in children and young adults with velocardiofacial syndrome...
  63. ncbi VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study
    Juan Francisco Calderón
    Center for Human Genetics, Facultad de Medicina, Clinica Alemana Universidad Del Desarrollo
    Biol Res 42:461-8. 2009
    ....
  64. ncbi RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction
    Thomas M Maynard
    Department of Cell and Molecular Physiology and UNC Neuroscience Center, CB 7545, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA
    Mech Dev 111:177-80. 2002
    RanBP1, a velocardiofacial syndrome/DiGeorge syndrome candidate gene, is expressed in the frontonasal processes, branchial arches, aortic arches, and limb buds...
  65. ncbi Living with a child at risk for psychotic illness: the experience of parents coping with 22q11 deletion syndrome: an exploratory study
    Laura Hercher
    Sarah Lawrence College, Joan H Marks Program in Human Genetics, Bronxville, New York 10708, USA
    Am J Med Genet A 146:2355-60. 2008
    ....
  66. ncbi Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome
    Kiran Patel
    Division of Allergy Immunology, Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    J Pediatr 161:950-3. 2012
    b>DiGeorge syndrome is associated with a T-lymphocyte immunodeficiency. The prevalence of hypogammaglobulinemia has not been reported...
  67. ncbi A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region
    N Galili
    Wistar Institute, Philadelphia, Pennsylvania, USA
    Genome Res 7:17-26. 1997
    ..Therefore, if deletion of these genes results in DGS/VCFS in humans, then haploinsufficiencies involving this region of chromosome 16 should recapitulate the developmental field defects characteristic of this syndrome...
  68. ncbi Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse
    H F Sutherland
    Molecular Medicine Unit, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, United Kingdom
    Genomics 52:37-43. 1998
    ..clone contig we have mapped 19 murine homologues of genes and nine EST groups from the region deleted in DiGeorge syndrome and found them to be linked on mouse chromosome 16...
  69. pmc Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients
    Sean B Herman
    Department of Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Am J Med Genet A 158:2781-7. 2012
    Velo-cardio-facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000-1/4,000 live births...
  70. ncbi Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region
    N Heisterkamp
    Department of Pathology, Children s Hospital of Los Angeles, California 90027, USA
    Genomics 29:451-6. 1995
    A high percentage of patients with DiGeorge syndrome and velo-cardio-facial syndrome have interstitial deletions on chromosome 22q11. The shortest region of overlap is currently estimated to be around 55 kb...
  71. ncbi DiGeorge anomaly in the absence of chromosome 22q11.2 deletion
    Alan F Rope
    Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA
    J Pediatr 155:560-5. 2009
    ..To test the hypothesis that the prevalence of deletion 22q11.2 among individuals who meet criteria for DiGeorge anomaly (DGA) is lower than the 90% commonly cited...
  72. ncbi Genetic dissection of the DiGeorge syndrome phenotype
    F Vitelli
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, Texas 77030, USA
    Cold Spring Harb Symp Quant Biol 67:327-32. 2002
  73. ncbi Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes
    Lisa J Kobrynski
    Department of Pediatrics, Allergy and Immunology Section, Emory University School of Medicine, Atlanta, GA, USA
    Lancet 370:1443-52. 2007
    Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in common a high frequency of hemizygous deletions of chromosome 22q11.2. This deletion syndrome is very common, affecting nearly one in 3000 children...
  74. pmc Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome
    Jodi Ann M Swaby
    Toronto Congenital Cardiac Centre for Adults, University of Toronto, Peter Munk Cardiac Centre, University Health Network Toronto General Hospital, Ontario, Canada
    Am J Cardiol 107:466-71. 2011
    ..These findings have potential implications for the genetic counseling of families of those with 22q11DS and support the notion that interacting genetic variants might contribute to the variable expression of 22q11DS...
  75. pmc Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review
    P S Kar
    Academic Department of Diabetes and Endocrinology, Queen Alexandra Hospital, Portsmouth PO6 3LY, UK
    J Clin Pathol 58:655-7. 2005
    ..These two patients show that Di-George syndrome can present in adulthood with hypocalcaemia. This is an important observation because the condition has profound implications for health and family planning...
  76. ncbi Thymic output markers indicate immune dysfunction in DiGeorge syndrome
    Richard F Lavi
    J Allergy Clin Immunol 118:1184-6. 2006
  77. ncbi DiGeorge syndrome: an update
    Antonio Baldini
    Division of Cardiology, Department of Pediatrics, and Center for Cardiovascular Development, Baylor College of Medicine, Houston, Texas 77030, USA
    Curr Opin Cardiol 19:201-4. 2004
    This article is an update on DiGeorge syndrome research focusing on the synergy of human and model systems genetics toward the understanding of conotruncal and aortic arch defects.
  78. ncbi The role of neural crest during cardiac development in a mouse model of DiGeorge syndrome
    Lazaros Kochilas
    Cardiovascular Division, University of Pennsylvania, Philadelphia 19104, USA
    Dev Biol 251:157-66. 2002
    The velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a genetic disorder characterized by phenotypic abnormalities of the derivatives of the pharyngeal arches, including cardiac outflow tract defects...
  79. ncbi Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome
    Albert K Oh
    Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Cleft Palate Craniofac J 44:62-6. 2007
    ..2 ascertained by fluorescent in situ hybridization (FISH) analysis in patients with velopharyngeal insufficiency (VPI), cleft palate, or other clinical features of velocardiofacial syndrome (VCFS)...
  80. ncbi Source monitoring for actions in adolescents with 22q11.2 deletion syndrome (22q11DS)
    M Debbane
    Service Médico Pédagogique Research Unit, Department of Psychiatry, Faculty of Psychology, University of Geneva School of Medicine, Switzerland
    Psychol Med 38:811-20. 2008
    ..2 deletion syndrome (22q11DS), a neurogenetic disease associated with high rates of schizophrenia during adulthood, and expected to observe source monitoring deficits in comparison to IQ-matched and typically developing controls...
  81. ncbi Isolation and characterization of a novel gene deleted in DiGeorge syndrome
    H Kurahashi
    Department of Medical Genetics, Osaka University Medical School, Japan
    Hum Mol Genet 4:541-9. 1995
    The region commonly deleted in DiGeorge syndrome (DGS) has been localized at 22q11.1-q11.2 with the aid of a high resolution banding technique...
  82. ncbi Ece1 and Tbx1 define distinct pathways to aortic arch morphogenesis
    Masae Morishima
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, Texas 77030, USA
    Dev Dyn 228:95-104. 2003
    ..Mutations in the Endothelin-1 genetic pathway or Tbx1, a candidate gene for DiGeorge syndrome, cause similar aortic arch defects...
  83. ncbi [DiGeorge syndrome, a review of 52 patients]
    F Minier
    Unité de Foetopathologie, Service d Anatomie Pathologique, CHU Pellegrin, Place Amelie Raba Leon, 33076 Bordeaux Cedex, France
    Arch Pediatr 12:254-7. 2005
    ..This acronym doesn't recapitulate the full spectrum of the symptoms. The diagnosis of this syndrome can be done with the prenatal diagnosis, with fetal pathology or with a child alive...
  84. ncbi Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes
    S Demczuk
    INSERM U434, Institut Curie, Paris, France
    Hum Mol Genet 5:633-8. 1996
    b>DiGeorge syndrome, and more widely the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2...
  85. pmc Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus
    L Edelmann
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Genome Res 11:208-17. 2001
    ..1b. Both sc11.1 repeats are deleted in most persons with velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), and they map immediately adjacent and internal to the low copy repeats, termed LCR22, that ..
  86. ncbi GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide
    L Gong
    Research Center for Cardiovascular Diseases, Institute of Molecular Medicine for the Prevention of Human Disease, The University of Texas Houston Health Science Center, 77030, USA
    Biochim Biophys Acta 1494:185-8. 2000
    CATCH 22 syndromes, which include DiGeorge syndrome and Velocardiofacial syndrome, are the most common cause of congenital heart disease which involve microdeletion of 22q11...
  87. pmc COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome
    Vandana Shashi
    Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carolina 27710, USA
    Psychiatry Res 178:433-6. 2010
    ..The Val allele was associated with poor IQ, processing speed, executive function and a higher frequency of anxiety disorders, underscoring the importance of the COMT gene in the childhood psychopathology in 22q11DS...
  88. ncbi High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome
    Tracy Busse
    Children s Hospital of Philadelphia, Pennsylvania, USA
    Hum Mutat 32:91-7. 2011
    ..In patients with phenotypes suggestive of the 22q11.2 syndrome spectrum and normal FISH, microarray analysis can uncover the molecular basis of other genomic disorders whose features overlap those of 22q11.2 deletions...
  89. ncbi A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome
    E A Lindsay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cytogenet Cell Genet 79:243-7. 1997
    ..Dgcr6 is the mouse homolog of human DGCR6, previously shown to be deleted in DiGeorge syndrome, a developmental field defect affecting the derivatives of the pharyngeal arches which is associated with ..
  90. pmc Decreased levels of embryonic retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome
    Lucile Ryckebusch
    INSERM UMR S910, Universite de la Mediterranee, Faculte de Medecine, 27 Bd Jean Moulin, Marseille, France
    Circ Res 106:686-94. 2010
    ..Recent studies have shown that reduction of RA or loss of Tbx1 alters the contribution of second heart field (SHF) progenitor cells to the elongating heart tube...
  91. ncbi The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age
    L J M Evers
    Koraal Group, MFCG, Multi Disciplinary Centre for Dual Disabilities, Heel, The Netherlands
    Genet Couns 20:307-15. 2009
    ..Aside from the described behavioral phenotype in literature, a moderate, severe or profound intellectual disability may be present. Special attention should be given to cognitive deterioration...
  92. ncbi Temperament in velocardiofacial syndrome
    K M Antshel
    Department of Psychiatry and Behavioral Sciences, State University of New York Upstate Medical University, Syracuse, NY 13210, USA
    J Intellect Disabil Res 51:218-27. 2007
    ..Velocardiofacial syndrome (VCFS) is a microdeletion syndrome caused by a 22q11.2 chromosomal deletion...
  93. ncbi Executive functions and memory abilities in children with 22q11.2 deletion syndrome
    Linda E Campbell
    Institute of Psychiatry, King s College London, UK
    Aust N Z J Psychiatry 44:364-71. 2010
    ....
  94. pmc Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease
    Aoy Tomita-Mitchell
    Division of Cardiovascular Surgery, Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
    Physiol Genomics 42:52-60. 2010
    22q11.2 Deletion syndrome (22q11.2 DS) [DiGeorge syndrome type 1 (DGS1)] occurs in ∼1:3,000 live births; 75% of children with DGS1 have severe congenital heart disease requiring early intervention...
  95. ncbi A chicken model for DGCR6 as a modifier gene in the DiGeorge critical region
    Beerend P Hierck
    Department of Anatomy and Embryology, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
    Pediatr Res 56:440-8. 2004
    ..in which DGCR6 expression was attenuated revealed cardiovascular anomalies reminiscent of those found in DiGeorge syndrome. Moreover, the expression profiles of three other genes from the DiGeorge critical region, TBX-1, UFD1L, and ..
  96. ncbi The facial phenotype of the velo-cardio-facial syndrome
    Sydney C Butts
    Department of Otolaryngology and Communication Sciences, SUNY Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210, USA
    Int J Pediatr Otorhinolaryngol 73:343-50. 2009
    ..This review aims to highlight the approaches to facial analysis that are essential to the detection of the facial dysmorphisms in velo-cardio-facial syndrome, many of which may be subtle...
  97. ncbi Primary cellular immunodeficiencies
    Rebecca H Buckley
    Division of Allergy and Immunology, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    J Allergy Clin Immunol 109:747-57. 2002
    ..Fully defining the molecular defects of such patients is also essential for genetic counseling of family members and prenatal diagnosis...
  98. ncbi Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture
    Andreea Cristina Tutulan-Cunita
    Medical Genetics Laboratory, National Institute of Pathology, Bucharest, Romania
    Psychiatry Res 197:356-7. 2012
    ..We present two atypical cases of 22q11.2 deletion syndrome and suggest a preferential occurrence of the breakpoints in regions poor in repetitive elements of SINE/Alu family...
  99. ncbi Post-natal ontogenesis of the T-cell receptor CD4 and CD8 Vbeta repertoire and immune function in children with DiGeorge syndrome
    Caterina Cancrini
    Department of Public Health, University of Tor Vergata, Rome, Italy
    J Clin Immunol 25:265-74. 2005
    b>DiGeorge syndrome (DGS) is a congenital disorder characterized by typical facial features, hypoparatyroidism, conotruncal cardiac defects and thymic hypoplasia...
  100. ncbi Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome)
    Katrijn Van Aken
    Faculty of Kinesiology and Rehabilitation Sciences, Katholieke Universiteit Leuven, Leuven, Belgium
    Dev Med Child Neurol 49:210-3. 2007
    ..To conclude, primary school children with a del22q11 syndrome showed a significant deficit in motor performance compared with a control group. A significant effect of IQ on motor performance in del22q11 was found...
  101. pmc DiGeorge Syndrome: a not so rare disease
    Angela B F Fomin
    Instituto da Criança, Hospital das Clinicas, Universidade de Sao Paulo, SP, Brazil
    Clinics (Sao Paulo) 65:865-9. 2010
    The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life...

Research Grants62

  1. CLONING OF THE Hol MUTATION
    Licia Selleri; Fiscal Year: 2009
    ..Overall, the Hol craniofacial mutation phenocopies the Tbx1 homozygous mutation in the mouse, which models DiGeorge Syndrome (DGS)...
  2. Stem cell-mediated reversal of thymic involution in premature aging models
    Kenneth I Weinberg; Fiscal Year: 2010
    ..During normal embryogenesis, TEC develop from endodermal progenitors. The DiGeorge syndrome (DGS) is a common pediatric malformation complex that includes immune deficiency due to developmental ..
  3. Role of endocytosis by the neural crest in cardio-craniofacial development
    ANNA LUISE KEYTE; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Cardiocraniofacial syndromes, including Velocardiofacial Syndrome and DiGeorge Syndrome, are among the most common congenital multiple anomaly syndromes...
  4. Fibulin-1 Regulation of the DiGeorge Syndrome Pathogenesis Pathway
    WILLIAM SCOTT ARGRAVES; Fiscal Year: 2012
    ..displayed by mice deficient in Fbln1 recapitulate many of the anomalies associated with 22q11 deletion/DiGeorge syndrome (DGS), which occurs with a frequency of 1:4000 human births...
  5. Genetic Analysis of Tbx1 in Ear Disorders
    Bernice E Morrow; Fiscal Year: 2013
    ..found that Tbx1, encoding a T-box containing transcription factor, the gene for velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) on 22q11...
  6. Role of actin cytoskeleton regulators in craniofacial development and disease
    Shuyi Nie; Fiscal Year: 2013
    ..lead to numerous diseases and birth defects, including cleft lip/palate, Treacher-Collins syndrome, and DiGeorge syndrome. Despite recent progress in understanding aspects of neural crest development, the mechanisms underlying ..
  7. Development of Population-Based Screening for DiGeorge Syndrome Type 1
    AOY MITCHELL; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): DiGeorge syndrome type 1 (DGS1) is estimated to be the most prevalent inheritable genetic deletion syndrome, occurring in 1 per 4,000 live births...
  8. Identification of synaptic mechanisms of 22q11 deletion syndrome
    Stanislav S Zakharenko; Fiscal Year: 2013
    ..provided by applicant): The 22q11 deletion syndrome (22q11DS), also known as velocardiofacialsyndrome or DiGeorge syndrome, is the most common microdeletion syndrome in humans...
  9. Developmental Genetics of the Pharyngeal Apparatus
    Bernice E Morrow; Fiscal Year: 2010
    ..Velo-cardio-facial syndrome/DiGeorge syndrome is associated with hemizygous 22q11 deletions and characterized by defects in the derivatives of the ..
  10. Control of neural crest development in Xenopus
    Jean Pierre Saint-Jeannet; Fiscal Year: 2013
    ..multiple organ systems, as observed in Hirschsprung disease (hypopigmentation and aganglionic megacolon) and DiGeorge syndrome (craniofacial and heart defects)...
  11. Sequence Variations in Low Copy Repeats on 22q11.2
    Bernice E Morrow; Fiscal Year: 2010
    ..LCR22-2 and LCR22-4, mapping 3 Mb apart, lead to several genomic disorders including velo-cardio-facial/DiGeorge syndrome (VCFS/DGS), occurring in 1/4,000 live births...
  12. Role of integrin a5 in the development of aortic arch arteries.
    Sophie Astrof; Fiscal Year: 2013
    ..arteries gives rise to severe birth defects and often occurs as a part of other congenital syndromes such as DiGeorge syndrome, one of the most common chromosome microdeletion syndromes in humans (1 in 4000 live births)...
  13. A novel approach for diagnosis and newborn screening for 22q11 deletion syndrome
    Lisa Kobrynski; Fiscal Year: 2009
    b>Digeorge syndrome/Velocardiofacial syndrome/22q11.2 deletion syndrome is a complex disorder due to a microdeletion of 1.5 or 3 Mb on the long arm of chromosome 22...
  14. Towards understanding cellular mechanisms of positive symptoms of schizophrenia
    Stanislav S Zakharenko; Fiscal Year: 2013
    ..The 22q11.2-deletion syndrome (22q11DS), also known as velocardiofacialsyndrome or DiGeorge syndrome, is the most common microdeletion syndrome in humans...
  15. THYMIC TRANSPLANTATION IN COMPLETE DIGEORGE SYNDROME
    MARY MARKERT; Fiscal Year: 2009
    ..abstract_text> ..
  16. THYMIC TRANSPLANTATION IN COMPLETE DIGEORGE SYNDROME
    MARY LOUISE MARKERT; Fiscal Year: 2013
    ....
  17. Schizophrenia biomarkers discerned by cellular networks in DiGeorge syndrome
    Bradley D Pearce; Fiscal Year: 2010
    ..g. schizotypal personality disorder), or subtypes of the disorder. DiGeorge syndrome is a genetic disorder characterized by delimited microdeletions in chromosome 22q11...
  18. Molecular and Cellular Basis of Pharyngeal Pouch Development
    GAGE D CRUMP; Fiscal Year: 2013
    ..Defects in pouch formation in human birth defects such as DiGeorge Syndrome result in a variety of developmental abnormalities of the facial skeleton, heart, and glands (e.g...
  19. The Mechanism and Significance of Evf ncRNA regulation of the Dix genes
    JHUMKU DUTT KOHTZ; Fiscal Year: 2010
    ..These include: Prader Willi Syndrome, diGeorge Syndrome, Beckwith-Wiedeman syndrome, Spinocerebellar ataxia type 8, and campomelic dysplasia.
  20. Genetic Basis of Birth Defects in 22q11 Deletion Syndrome
    Bernice E Morrow; Fiscal Year: 2010
    ..2 rearrangement disorders The 22q11.2 deletion syndrome (22q11DS), also known as velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), is one of the most common microdeletion disorders in humans, occurring in 1/4,000 live births...
  21. Functional Connectivity as a Predictor of Psychosis in 22q11.2 Deletion Syndrome
    MATTHEW JAMES SCHREINER; Fiscal Year: 2013
    ..The 22q11.2 Deletion Syndrome (Velocardiofacial/DiGeorge syndrome;22qDS) is a compelling model, as it represents the most common known genetic risk factor for the development ..
  22. Neurodevelopment and Psychosis in the 22q11.2 Deletion Syndrome
    Carrie E Bearden; Fiscal Year: 2013
    ..The 22q11.2 deletion syndrome (Velocardiofacial/ DiGeorge syndrome;22qDS) is a compelling model, as it represents the most common known genetic risk factor for the development ..
  23. MOLECULAR BASIS FOR HYPOPLASTIC HEART SYNDROMES
    Eric Olson; Fiscal Year: 2003
    ..syndromes associated with congenital heart disease: hypoplastic left heart syndrome, Down syndrome, and DiGeorge syndrome. Recently, the Olson lab found that two novel bHLH transcription factors, referred to as dHAND and eHAND, ..
  24. MEMBRANE FUSION ATPASES AND THE GOLGI APPARATUS
    Ayano Satoh; Fiscal Year: 2007
    ..Ufd1p is mutated in DiGeorge syndrome, a congenital developmental disorder, and the role played by p97 in unraveling protein aggregates has ..
  25. Tbx1 Functions in Ear Development
    Antonio Baldini; Fiscal Year: 2007
    ..TBX1 is thought to be a critical gene in the pathogenesis of de122qll/DiGeorge syndrome (DGS)...
  26. Strategy for Rescuing Primary Thymic Stromal Failure
    Dong Ming Su; Fiscal Year: 2009
    ..immunodeficiency caused by thymic organogenetic and thymic stromal cell (TSC) developmental failure, such as DiGeorge syndrome (DGS) which is likely caused by a mutation in the Tbx1 gene and human nude (HN) which is caused by a ..
  27. A GENETIC PATHWAY REQUIRED FOR PHARYNGEAL ARCH DEVELOPME
    Antonio Baldini; Fiscal Year: 2003
    Functional analysis of the murine chromosomal segment, homologous to the human region deleted in DiGeorge syndrome, identified a putative transcription factor, Tbx1, required for the development of the pharyngeal apparatus...
  28. 22q11 Genes and Complex Behavior in Mice
    Noboru Hiroi; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): DiGeorge syndrome (DGS)/velo-cardio-facial syndrome (VCFS) is one of the common genetic disorders and affects approximately one in 4000 livebirths. Hemizygosity of a 1.5-3...
  29. A Novel ncRNA involved in the Regulation of Dlx 5/6
    JHUMKU KOHTZ; Fiscal Year: 2006
    ..Functional regulatory RNAs are thought to be involved in Prader Willi Syndrome, diGeorge Syndrome, Beckwith-Wiedeman syndrome, Spinocerebellar ataxia type 8, and campomelic dysplasia, and thus the proposed ..
  30. Molecular Basis of Monosomy 1p36
    Bernice Morrow; Fiscal Year: 2006
    ..we propose to take an approach that is similar to what we have done in the past for velo-cardio-facial/DiGeorge syndrome on human chromosome 22q11.2...
  31. Mammalian Septin GTP-Binding Proteins
    Ian Macara; Fiscal Year: 2005
    ..The CDCrel-1 septin gene is deleted in some velo-facio DiGeorge syndrome patients...
  32. Genetic Modifiers for 22q 11.2 Deletion Syndrome
    Bernice E Morrow; Fiscal Year: 2010
    The 22q11.2 deletion syndrome (22q11DS, aka velo-cardio-facial syndrome/DiGeorge syndrome) is a congenital anomaly disorder characterized by learning disabilities, craniofacial malformations, immune deficiencies, hypocalcemia and ..
  33. Chromosome Rearrangements and Mental Retardation
    JAMES LUPSKI; Fiscal Year: 2005
    ..Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is associated with hemizygous 1.5-3 Mb 22ql 1...
  34. FACSVANTAGE SE CELL SORTER
    DHAVALKUMAR PATEL; Fiscal Year: 2000
    ..for inherited and acquired immunodeficiencies, including severe combined immunodeficiency (SCID), DiGeorge syndrome, acquired immunodeficiency syndrome (AIDS), and myeloablation for cancer...
  35. Molecular Cytogenetics of Congenital Heart Malformation
    Antonio Baldini; Fiscal Year: 2007
    ..Tbx1 is required for the development of the pharyngeal arches and pouches and is a key candidate gene for DiGeorge Syndrome. Developmental defects of the embryonic pharyngeal apparatus are the basis of many human birth defects, ..
  36. Clinical Genetic and Morphometric Analysis of VCFS/DGS
    Raju Kucherlapati; Fiscal Year: 2006
    Velo-cardio-facial syndrome and DiGeorge syndrome are relatively common disorders and affect at least 1/4000 newborn children. Most of the cases of VCFS/DGS are sporadic...
  37. Comparative Genetics of the DiGeorge Syndrome Gene TBX1
    Raju Kucherlapati; Fiscal Year: 2009
    Velo cardio facial syndrome and DiGeorge syndrome (VCFS/DGS) are the most common human developmental disorders that result from haploinsufficiency. Most of the patients are hemizygous for 3 Mb deletion on human chromosome 22q11...
  38. DETECTING GENE DOSAGE MUTATIONS WITH A PCR-BASED METHOD
    Jian Han; Fiscal Year: 1999
    ..dosage analysis method could be used for the detection of chromosome aneuploidy (including Down's syndrome), microdeletionsyndromes (including William syndrome, DiGeorge Syndrome, etc), and cancer specific allelic loss.
  39. MOLECULAR MECHANISM OF CARDIAC OUTFLOW TRACT DEVELOPMENT
    Sulagna Saitta; Fiscal Year: 2005
    ..Such malformations are present in 85 percent of patients with velocardiofacial/DiGeorge syndrome (VCFS) and are the major cause of morbidity and mortality in these patients...
  40. Phase I Serum-free cultured thymus transplantation in DiGeorge anomaly, IND9836,
    MARY MARKERT; Fiscal Year: 2009
    ..The focus of these experiments is the development of thymopoiesis and normal presentation of promiscuously expressed antigens in the thymus. ..
  41. Dynamics of TCR Repertoire Following Thymus Transplant
    MARY MARKERT; Fiscal Year: 2008
    ..We propose to do so using a model system of infants with complete DiGeorge syndrome who receive thymic allografts...
  42. Parathyroid and Thymus Transplants in DiGeorge Syndrome
    MARY MARKERT; Fiscal Year: 2005
    b>DiGeorge syndrome is a congenital anomaly characterized by defects of the 3rd and 4th pharyngeal pouches and intervening 4th pharyngeal arch. Infants are born with defects of the heart, parathyroid and thymus...
  43. Dose Study of thymus Transplantation
    MARY MARKERT; Fiscal Year: 2007
    ..Abstract Not Provided. ..
  44. Neuroanatomy and Cognition in Velocardiofacial Syndrome
    Wendy Kates; Fiscal Year: 2005
    ....
  45. Immune Complex Stimulation of TNFalpha
    Kathleen Sullivan; Fiscal Year: 2007
    ..In the third aim, we will define the role of chromatin in the regulation of responses to immune complexes. ..
  46. TNF Alpha In Inflammation
    Kathleen Sullivan; Fiscal Year: 2008
    ..Overall, this proposal will define the mechanisms underlying repression of the TNF alpha locus. [unreadable] [unreadable]..
  47. NCRR FACSAria Cell Sorter
    Barton Haynes; Fiscal Year: 2004
    ..Advisory committees, institutional support, financial support for continued maintenance, and management plans are in place to insure that the instrument will be fully and appropriately utilized. ..
  48. Schizophrenia Predisposition in 22q11 Deletion Syndrome
    Vandana Shashi; Fiscal Year: 2005
    ..abstract_text> ..
  49. LBX2 AND UROGENITAL DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2002
    ....
  50. DESIGN OF NOVEL IMMUNOGENS AND ADJUVANTS FOR HIV VACCINE
    Barton Haynes; Fiscal Year: 2003
    ..abstract_text> ..
  51. Attention in Children with the 22q11 Deletion Syndrome
    Christina Sobin; Fiscal Year: 2005
    ....
  52. 2005 NNFF Consortium for NF1, NF2 and Schwannomatosis
    Jonathan Epstein; Fiscal Year: 2005
    ....
  53. The Genetic Etiology of Left-Sided Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2007
    ..In addition, these investigations will lead to future studies that assess the relationship of genotype to clinical outcome, and allow us to improve upon our clinical management accordingly. [unreadable] [unreadable]..
  54. The Genetic Etiology of Conotruncal Cardiac Defects
    Elizabeth Goldmuntz; Fiscal Year: 2007
    ..With this data, the impact of genotype on clinical outcome can be assessed and improved management strategies devised for the future. [unreadable] [unreadable]..
  55. Molecular basis of vascular heterogenity and function
    Jonathan Epstein; Fiscal Year: 2008
    ..abstract_text> ..
  56. PAX3 REGULATION OF CARDIAC CONOTRUNCAL DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2008
    ..Aim 3 examines the role of neural crest during development of the conduction system, and specifically examines Pax3 regulation of DCT. [unreadable] [unreadable]..
  57. Islet growth in NOD mice tolerant to autoimmune diabetes
    VIRGINIA PAPAIOANNOU; Fiscal Year: 2005
    ..By combining the expertise of the two Pl's to address the problems of islet autoimmunity and beta cell deficiency our proposal will test a combination strategy that may be useful in patients. ..
  58. Analysis of Thymic Epithelial Precursor Cells
    Georg Hollander; Fiscal Year: 2008
    ..abstract_text> ..
  59. Role of T-box Genes in Mouse Development
    VIRGINIA PAPAIOANNOU; Fiscal Year: 2006
    ..Produce a conditional allele of Tbx4 to study gene function late in development. Specific Aim 3. Investigate regulatory and genetic interactions between the genes of the Tbx subfamily, Tbx2, Tbx3, Tbx4, and Tbx5. ..
  60. Gene Expression Levels Across Diverse Genomes
    Samuel Karlin; Fiscal Year: 2006
    ..A third major objective of our research will be to extend our codon usage methods for predicting gene expression levels to eukaryotic genomes, including yeast, D. melanogaster, C. elegans, and human. [unreadable] [unreadable]..