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 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
  2. doi 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
  3. 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
  4. 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
  5. 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
  6. doi 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
  7. 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
  8. 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
  9. doi 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
  10. 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

Detail Information

Publications297 found, 100 shown here

  1. 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...
  2. doi 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...
  3. 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...
  4. 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 ..
  5. 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...
  6. doi 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)...
  7. 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...
  8. 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...
  9. doi 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...
  10. 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...
  11. 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...
  12. doi 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...
  13. doi 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...
  14. 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...
  15. 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...
  16. 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...
  17. 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...
  18. 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
    ....
  19. 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...
  20. doi 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...
  21. 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...
  22. doi 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...
  23. 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 ..
  24. 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...
  25. 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...
  26. 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...
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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...
  32. 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...
  33. 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...
  34. 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...
  35. 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...
  36. 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...
  37. 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 ..
  38. 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 ..
  39. doi 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...
  40. 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...
  41. 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...
  42. 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)...
  43. 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...
  44. ncbi Thymic output markers indicate immune dysfunction in DiGeorge syndrome
    Richard F Lavi
    J Allergy Clin Immunol 118:1184-6. 2006
  45. 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...
  46. 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 ..
  47. doi 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...
  48. 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...
  49. 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...
  50. 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...
  51. doi 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
    ....
  52. 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...
  53. 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.
  54. 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...
  55. doi 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...
  56. 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 ..
  57. 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...
  58. 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...
  59. 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...
  60. 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...
  61. doi 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...
  62. 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...
  63. 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...
  64. doi 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
    ....
  65. 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...
  66. ncbi Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p
    P Lichtner
    Institute of Human Genetics, Klinikum rechts der Isar, Technical University, Munich, Germany
    J Mol Med (Berl) 80:431-42. 2002
    ..We did not find BRUNOL3 mutations in 92 DiGeorge syndrome-like patients without chromosomal deletions and in 8 parents with congenital heart defect children.
  67. 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...
  68. ncbi Unilateral Peters' anomaly in a patient with DiGeorge syndrome
    I Casteels
    Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium
    J Pediatr Ophthalmol Strabismus 42:311-3. 2005
    ..2, a finding not previously described. This anterior segment anomaly can be explained by a problem in neural crest development, as neural crest cells are known to play a role in the developmental defects of this disorder...
  69. ncbi Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome
    Jeffrey M Long
    Department of Medicine, University of California, San Diego School of Medicine, La Jolla, CA 92093 0627, USA
    Neurogenetics 7:247-57. 2006
    Velocardiofacial/DiGeorge syndrome (VCFS/DGS) is a developmental disorder caused by a 1.5 to 3-Mb hemizygous 22q11.2 deletion...
  70. ncbi DiGeorge syndrome: the use of model organisms to dissect complex genetics
    Antonio Baldini
    Department of Pediatrics Cardiology, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 11:2363-9. 2002
    The research interest in DiGeorge syndrome (DGS) is partly due to its clinical importance. However, fundamental questions of genetics and developmental biology related to DGS are inspiring investigators to experiment with model systems...
  71. ncbi Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)
    S Schuffenhauer
    Abteilung Medizinische Genetik, Ludwig Maximilians Universitat Munchen, Germany
    Eur J Hum Genet 6:213-25. 1998
    b>DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2)...
  72. ncbi Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays
    Marie Paule Beaujard
    Laboratoire de Cytogenetique, Institut de Puericulture, Paris, France
    Eur J Med Genet 52:321-7. 2009
    ..2. We conclude that FISH with the TBX1 probe is an accurate diagnostic tool for 22q11.2 DS, with a higher sensitivity than FISH using standard probes, detecting all but the rarest deletions, greatly reducing the false negative rate...
  73. ncbi Symptomatic hypoparathyroidism based on a 22q11 deletion first diagnosed in a 43-year-old woman
    K Van Den Berge
    Department of Medicine, Medical Centre Rijnmond Zuid, Rotterdam, The Netherlands
    Neth J Med 67:102-4. 2009
    ..diagnosed with dysgenesis of the parathyroid glands due to a de novo microdeletion in chromosome 22q11 or DiGeorge syndrome. This syndrome is characterised by a considerable variability in clinical symptoms, including heart defects, ..
  74. 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...
  75. pmc DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood
    Philip C Johnston
    Regional Centre for Diabetes and Endocrinology, Royal Victoria Hospital, Belfast, N Ireland, BT12 6BA, United Kingdom
    Ulster Med J 77:201-2. 2008
    ..neonatal hypocalcaemia and velopharyngeal incompetence during childhood, prompted chromosomal analysis for DiGeorge Syndrome. Fluorescence in situ hybridisation (FISH) analysis revealed a deletion of chromosome 22q11.2...
  76. ncbi Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome
    Melanie Babcock
    Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Hum Mol Genet 16:2560-71. 2007
    ..In summary, our results are consistent with a lineage specific coupling between gene and LCR22 duplication events. The LCR22s thus serve as an important model for evolution of genome variation...
  77. ncbi Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome
    Edith M Jolin
    Department of Socio Medical Sciences and Community Medicine, Boston University School of Medicine, Boston, MA, United States
    J Affect Disord 119:177-80. 2009
    ..Assessment of psychiatric diagnoses in children and adolescents with 22qDS is in the early stages of investigation...
  78. 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...
  79. ncbi COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome
    Doron Gothelf
    Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, 401 Quarry Road, Stanford, California 94305 5795, USA
    Nat Neurosci 8:1500-2. 2005
    ..The 22q11.2 deletion syndrome is a promising model for identifying biomarkers related to the development of schizophrenia...
  80. ncbi High rates of schizophrenia in adults with velo-cardio-facial syndrome
    K C Murphy
    Division of Psychological Medicine, University of Wales College of Medicine, Cardiff
    Arch Gen Psychiatry 56:940-5. 1999
    ..Velo-cardio-facial syndrome (VCFS), a syndrome characterized by an increased frequency of schizophrenia and bipolar disorder, is associated with small interstitial deletions of chromosome 22q11...
  81. doi Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome
    Doron Gothelf
    Feinberg Department of Child Psychiatry, The Behavioral Neurogenetics Center, Schneider Children s Medical Center of Israel, Petah Tiqwa, Israel
    Dev Disabil Res Rev 14:59-68. 2008
    ..The other genes and environmental factors that shape the unique neuropsychiatric phenotype of VCFS are yet to be discovered...
  82. ncbi Role of the vascular endothelial growth factor isoforms in retinal angiogenesis and DiGeorge syndrome
    I Stalmans
    Departement Neurowetenschappen en Psychiatrie, Afdeling oogziekten Faculteit Geneeskunde, KULeuven, Herestraat 49 B 3000 Leuven
    Verh K Acad Geneeskd Belg 67:229-76. 2005
    ..cardiovascular defects, and occurs in association with craniofacial, thymic and parathyroid defects in DiGeorge syndrome (DGS) that affects 1/4000 live births...
  83. ncbi T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome
    Lisa M Piliero
    Division of Allergy and Immunology, ARC 1208, CHOP, 34th St and Civic Ctr Blvd, Philadelphia, PA 10104, USA
    Blood 103:1020-5. 2004
    Patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) typically exhibit thymic hypoplasia, conotruncal cardiac defects, and hypoparathyroidism...
  84. ncbi The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome
    Kathleen E Sullivan
    Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Curr Opin Allergy Clin Immunol 4:505-12. 2004
    New findings regarding the clinical manifestations and care of patients with DiGeorge syndrome or chromosome 22q11.2 deletion syndrome will be reviewed...
  85. ncbi The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies
    Céline de la Rochebrochard
    Am J Med Genet A 140:1608-13. 2006
  86. ncbi Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
    E A Lindsay
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 410:97-101. 2001
    b>DiGeorge syndrome is characterized by cardiovascular, thymus and parathyroid defects and craniofacial anomalies, and is usually caused by a heterozygous deletion of chromosomal region 22q11.2 (del22q11) (ref. 1)...
  87. 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...
  88. 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...
  89. pmc Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
    S Oskarsdóttir
    Department of Paediatrics, Goteborg University, Gothenburg, Sweden
    Arch Dis Child 89:148-51. 2004
    Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11.2...
  90. pmc Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome
    H F Sutherland
    Molecular Medicine Unit, Institute of Child Health, London
    Am J Hum Genet 59:23-31. 1996
    Most cases of DiGeorge syndrome (DGS) and related abnormalities are associated with deletions within 22q11...
  91. ncbi Structural Organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22
    S Lorain
    Genome Res 6:43-50. 1996
    The human gene HIRA lies within the smallest critical region for the DiGeorge syndrome (DGS), a haploinsufficiency developmental disorder associated with instertitial deletions in most patients in a juxtacentromeric region of chromosome ..
  92. ncbi Thymic transplantation for complete DiGeorge syndrome: medical and surgical considerations
    Henry E Rice
    Department of Surgery, Duke University Medical Center, Durham, NC 27710, USA
    J Pediatr Surg 39:1607-15. 2004
    Complete DiGeorge syndrome results in the absence of functional T cells. Our program supports the transplantation of allogeneic thymic tissue in infants with DiGeorge syndrome to reconstitute immune function...
  93. 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...
  94. ncbi Differential detection of deletion 22q11.2 syndrome by specialty and indication
    P J Katzman
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, New York 14642, USA
    Pediatr Dev Pathol 8:557-67. 2005
    ..Performing conventional cytogenetics and other FISH assays, in addition to FISH for D22S, is important because there is considerable overlap between D22S and the phenotype of several other syndromes...
  95. ncbi UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?
    G Novelli
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Via di Tor Vergata 135 00133 Rome, Italy
    Trends Genet 15:251-4. 1999
    ..phenotypes that result from a failure to form derivatives of third and fourth branchial arches, including DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS)...
  96. ncbi Congenital heart disease in mice deficient for the DiGeorge syndrome region
    E A Lindsay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 401:379-83. 1999
    ..It is the genetic basis of DiGeorge syndrome and causes the most common deletion syndrome in humans...
  97. ncbi Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects
    B Funke
    Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Hum Mol Genet 10:2549-56. 2001
    Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is a congenital anomaly disorder associated with hemizygous 22q11 deletions...
  98. pmc No evidence for parental imprinting of mouse 22q11 gene orthologs
    Thomas M Maynard
    UNC Silvio O Conte Center for the Neuroscience of Mental Disorders, University of North Carolina, Chapel Hill, North Carolina, 27599, USA
    Mamm Genome 17:822-32. 2006
    ..Given the high degree of similarity of human 22q11 and the orthologous region of mmChr16, genomic imprinting most likely cannot explain apparent parent-of-origin effects in 22q11DS...
  99. pmc Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome
    Vimla S Aggarwal
    Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA
    Dev Disabil Res Rev 14:19-25. 2008
    Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiac outflow tract malformations...
  100. ncbi Auto-immune pancytopenia in a child with DiGeorge syndrome
    Bénédicte Bruno
    Department of Paediatrics, Lille University Faculty of Medicine and Children s Hospital, Hopital Jeanne de Flandre, Lille, France
    Eur J Pediatr 161:390-2. 2002
    We report on the development of auto-immune pancytopenia in a child with DiGeorge syndrome carrying the 22q11 microdeletion...
  101. ncbi Frequency of 22q11 deletions in patients with conotruncal defects
    E Goldmuntz
    The Children s Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Medical Center, 19104, USA
    J Am Coll Cardiol 32:492-8. 1998
    ....

Research Grants75

  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. 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)...
  3. 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...
  4. 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...
  5. Parathyroid and Thymus Transplants in DiGeorge Syndrome
    MARY MARKERT; Fiscal Year: 2004
    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...
  6. MOLECULAR BASIS FOR HYPOPLASTIC HEART SYNDROMES
    Eric Olson; Fiscal Year: 2000
    ..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, ..
  7. 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, ..
  8. MOLECULAR BASIS FOR HYPOPLASTIC HEART SYNDROMES
    Eric Olson; Fiscal Year: 1999
    ..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, ..
  9. MOLECULAR BASIS FOR HYPOPLASTIC HEART SYNDROMES
    Eric Olson; Fiscal Year: 2002
    ..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, ..
  10. MOLECULAR BASIS FOR HYPOPLASTIC HEART SYNDROMES
    Eric Olson; Fiscal Year: 2001
    ..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, ..
  11. Control of neural crest development in Xenopus
    Jean Pierre Saint Jeannet; Fiscal Year: 2010
    ..multiple organ systems, as observed in Hirschsprung disease (hypopigmentation and aganglionic megacolon) and DiGeorge syndrome (craniofacial and heart defects)...
  12. 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 ..
  13. THYMIC TRANSPLANTATION IN COMPLETE DIGEORGE SYNDROME
    MARY MARKERT; Fiscal Year: 2009
    ..abstract_text> ..
  14. MEMBRANE FUSION ATPASES AND THE GOLGI APPARATUS
    Graham Warren; Fiscal Year: 2004
    ..Ufd1p is mutated in DiGeorge syndrome, a congenital developmental disorder, and the role played by p97 in unraveling protein aggregates has ..
  15. THYMIC TRANSPLANTATION IN COMPLETE DIGEORGE SYNDROME
    MARY MARKERT; Fiscal Year: 2009
    ..abstract_text> ..
  16. MEMBRANE FUSION ATPASES AND THE GOLGI APPARATUS
    Graham Warren; Fiscal Year: 2005
    ..Ufd1p is mutated in DiGeorge syndrome, a congenital developmental disorder, and the role played by p97 in unraveling protein aggregates has ..
  17. 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 ..
  18. MEMBRANE FUSION ATPASES AND THE GOLGI APPARATUS
    Graham Warren; Fiscal Year: 2006
    ..Ufd1p is mutated in DiGeorge syndrome, a congenital developmental disorder, and the role played by p97 in unraveling protein aggregates has ..
  19. 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...
  20. Schizophrenia biomarkers discerned by cellular networks in DiGeorge syndrome
    Bradley Pearce; Fiscal Year: 2009
    ..g. schizotypal personality disorder), or subtypes of the disorder. DiGeorge syndrome is a genetic disorder characterized by delimited microdeletions in chromosome 22q11...
  21. Stem cell-mediated reversal of thymic involution in premature aging models
    Kenneth Weinberg; Fiscal Year: 2009
    ..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 ..
  22. Fibulin-1 Regulation of the DiGeorge Syndrome Pathogenesis Pathway
    WILLIAM ARGRAVES; Fiscal Year: 2009
    ..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...
  23. DEVELOPMENTAL GENETICS OF THYMUS ORGANOGENESIS
    Nancy Manley; Fiscal Year: 2002
    ..Human birth defects that affect fetal thymus development can have both genetic causes, as in DiGeorge Syndrome and velocardiofacial syndrome (occurring in 1/5000 live births), and environmental origins...
  24. DEVELOPMENTAL GENETICS OF THYMUS ORGANOGENESIS
    Nancy Manley; Fiscal Year: 1999
    ..Human birth defects that affect fetal thymus development can have both genetic causes, as in DiGeorge Syndrome and velocardiofacial syndrome (occurring in 1/5000 live births), and environmental origins...
  25. DEVELOPMENTAL GENETICS OF THYMUS ORGANOGENESIS
    Nancy Manley; Fiscal Year: 2000
    ..Human birth defects that affect fetal thymus development can have both genetic causes, as in DiGeorge Syndrome and velocardiofacial syndrome (occurring in 1/5000 live births), and environmental origins...
  26. DEVELOPMENTAL GENETICS OF THYMUS ORGANOGENESIS
    Nancy Manley; Fiscal Year: 2001
    ..Human birth defects that affect fetal thymus development can have both genetic causes, as in DiGeorge Syndrome and velocardiofacial syndrome (occurring in 1/5000 live births), and environmental origins...
  27. DEVELOPMENTAL GENETICS OF THYMUS ORGANOGENESIS
    Nancy Manley; Fiscal Year: 2000
    ..Human birth defects that affect fetal thymus development can have both genetic causes, as in DiGeorge Syndrome and velocardiofacial syndrome (occurring in 1/5000 live births), and environmental origins...
  28. DEVELOPMENTAL GENETICS OF THYMUS ORGANOGENESIS
    Nancy Manley; Fiscal Year: 2002
    ..Human birth defects that affect fetal thymus development can have both genetic causes, as in DiGeorge Syndrome and velocardiofacial syndrome (occurring in 1/5000 live births), and environmental origins...
  29. Fibulin-1 Regulation of the DiGeorge Syndrome Pathogenesis Pathway
    WILLIAM SCOTT ARGRAVES; Fiscal Year: 2010
    ..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...
  30. SCOR IN PEDIATRIC CARDIOVASCULAR DISEASE
    Clayton Buck; Fiscal Year: 1993
    ..The approach is based upon our observation that patients suffering from DiGeorge Syndrome (DGS), Velo-Cardio-Facial syndrome (VCFS) and 30% of children with congenital abnormalities of the outflow ..
  31. 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...
  32. Tbx1 Functions in Ear Development
    Antonio Baldini; Fiscal Year: 2005
    ..TBX1 is thought to be a critical gene in the pathogenesis of de122qll/DiGeorge syndrome (DGS)...
  33. Tbx1 Functions in Ear Development
    Antonio Baldini; Fiscal Year: 2006
    ..TBX1 is thought to be a critical gene in the pathogenesis of de122qll/DiGeorge syndrome (DGS)...
  34. 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...
  35. 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)...
  36. 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...
  37. Tbx1 Functions in Ear Development
    Antonio Baldini; Fiscal Year: 2004
    ..TBX1 is thought to be a critical gene in the pathogenesis of de122qll/DiGeorge syndrome (DGS)...
  38. Tbx1 Functions in Ear Development
    Antonio Baldini; Fiscal Year: 2003
    ..TBX1 is thought to be a critical gene in the pathogenesis of de122qll/DiGeorge syndrome (DGS)...
  39. Tbx1 Functions in Ear Development
    Antonio Baldini; Fiscal Year: 2005
    ..TBX1 is thought to be a critical gene in the pathogenesis of de122qll/DiGeorge syndrome (DGS)...
  40. Enhance immune reconstitution of T lymphocytes after sct
    Barton Haynes; Fiscal Year: 2002
    ..for myasthenia gravis (MG) and to monitor immune reconstitution following thymus transplantation for DiGeorge Syndrome and bone marrow transplantation for Severe Combined Immune Deficiency Syndrome (SCID)...
  41. Genetic Analysis of Tbx1 in Ear Disorders
    Bernice Morrow; Fiscal Year: 2009
    ..found that Tbx1, encoding a T-box containing transcription factor, the gene for velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) on 22q11...
  42. Genetic Analysis of Tbx1 in Ear Disorders
    Bernice E Morrow; Fiscal Year: 2010
    ..found that Tbx1, encoding a T-box containing transcription factor, the gene for velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) on 22q11...
  43. Genetic Analysis of Tbx1 in Ear Disorders
    Bernice E Morrow; Fiscal Year: 2010
    ..found that Tbx1, encoding a T-box containing transcription factor, the gene for velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) on 22q11...
  44. Genetic Analysis of Tbx1 in Ear Disorders
    Bernice E Morrow; Fiscal Year: 2011
    ..found that Tbx1, encoding a T-box containing transcription factor, the gene for velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) on 22q11...
  45. Molecular Mechanisms of Tbx1 Function in DiGeorge Syndrome and Heart Development
    Jason Z Stoller; Fiscal Year: 2010
    ..b>DiGeorge syndrome (DCS) is a common syndrome and is frequently associated with deletions on chromosome 22q11...
  46. Molecular Mechanisms of Tbx1 Function in DiGeorge Syndrome and Heart Development
    JASON STOLLER; Fiscal Year: 2009
    ..b>DiGeorge syndrome (DCS) is a common syndrome and is frequently associated with deletions on chromosome 22q11...
  47. Molecular Mechanisms of Tbx1 Function in DiGeorge Syndrome and Heart Development
    JASON STOLLER; Fiscal Year: 2007
    ..b>DiGeorge syndrome (DCS) is a common syndrome and is frequently associated with deletions on chromosome 22q11...
  48. Genetic Analysis of Tbx1 in Ear Disorders
    Bernice Morrow; Fiscal Year: 2006
    Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is a congenital anomaly disorder associated with hemizygous 1.5-3 Mb 22ql 1 deletions...
  49. 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 ..
  50. Role of integrin a5 in the development of aortic arch arteries.
    Sophie Astrof; Fiscal Year: 2010
    ..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)...
  51. Genetic Analysis of Tbx1 in Ear Disorders
    Bernice Morrow; Fiscal Year: 2003
    Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is a congenital anomaly disorder associated with hemizygous 1.5-3 Mb 22ql 1 deletions...
  52. Role of integrin a5 in the development of aortic arch arteries.
    Sophie Astrof; Fiscal Year: 2010
    ..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)...
  53. Genetic Analysis of Tbx1 in Ear Disorders
    Bernice Morrow; Fiscal Year: 2007
    Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is a congenital anomaly disorder associated with hemizygous 1.5-3 Mb 22ql 1 deletions...
  54. Fibulin-1 Regulation of the DiGeorge Syndrome Pathogenesis Pathway
    WILLIAM SCOTT ARGRAVES; Fiscal Year: 2011
    ..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...
  55. MOLECULAR/ GENETIC BASIS OF EARLY CONOTRUNCAL MORPHOGENESIS
    Clayton Buck; Fiscal Year: 2000
    ..2 associated with over 90 percent of the cases of DiGeorge syndrome, referred to as the DiGeorge Critical Region (DGCR), is highly variable in size and does not predict ..
  56. MOLECULAR/ GENETIC BASIS OF EARLY CONOTRUNCAL MORPHOGENESIS
    Clayton Buck; Fiscal Year: 2001
    ..2 associated with over 90 percent of the cases of DiGeorge syndrome, referred to as the DiGeorge Critical Region (DGCR), is highly variable in size and does not predict ..
  57. A GENETIC PATHWAY REQUIRED FOR PHARYNGEAL ARCH DEVELOPME
    Antonio Baldini; Fiscal Year: 2002
    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...
  58. MOLECULAR/ GENETIC BASIS OF EARLY CONOTRUNCAL MORPHOGENESIS
    Clayton Buck; Fiscal Year: 2002
    ..2 associated with over 90 percent of the cases of DiGeorge syndrome, referred to as the DiGeorge Critical Region (DGCR), is highly variable in size and does not predict ..
  59. 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...
  60. MOLECULAR MECHANISMS AND GENOTYPE-PHENOTYPE IN VCFS/DGS
    Bernice Morrow; Fiscal Year: 2000
    The goal of this program is to understand the molecular basis of velo- cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS). VCFS/DGS is a congenital anomaly disorder associated with hemizygous deletions of chromosome 22q11...
  61. PAX3 AND CARDIAC CONOTRUNCAL DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2000
    ..constellation of findings is seen in chick embryos after neural crest ablation and in human patients with DiGeorge Syndrome. Pax3 is one of nine members of a developmentally critical gene family...
  62. PAX3 AND CARDIAC CONOTRUNCAL DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2002
    ..constellation of findings is seen in chick embryos after neural crest ablation and in human patients with DiGeorge Syndrome. Pax3 is one of nine members of a developmentally critical gene family...
  63. PAX3 AND CARDIAC CONOTRUNCAL DEVELOPMENT
    Jonathan Epstein; Fiscal Year: 2001
    ..constellation of findings is seen in chick embryos after neural crest ablation and in human patients with DiGeorge Syndrome. Pax3 is one of nine members of a developmentally critical gene family...
  64. Clinical Genetic and Morphometric Analysis of VCFS/DGS
    Raju Kucherlapati; Fiscal Year: 2005
    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...
  65. 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...
  66. Clinical Genetic and Morphometric Analysis of VCFS/DGS
    Raju Kucherlapati; Fiscal Year: 2004
    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...
  67. Genetic Basis of Birth Defects in 22q11 Deletion Syndrome
    Bernice Morrow; Fiscal Year: 2009
    ..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...
  68. A Novel ncRNA involved in the Regulation of Dlx 5/6
    JHUMKU KOHTZ; Fiscal Year: 2005
    ..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 ..
  69. 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 ..
  70. Sequence Variations in Low Copy Repeats on 22q11.2
    Bernice Morrow; Fiscal Year: 2009
    ..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...
  71. Molecular recognition and regulation in microRNA processing by the DGCR8 protein
    Feng Guo; Fiscal Year: 2009
    ..and function of a key factor-an human RNA binding protein called DGCR8 that is heterozygously deleted in DiGeorge syndrome patients...
  72. Developmental Genetics of the Pharyngeal Apparatus
    Bernice Morrow; Fiscal Year: 2009
    ..Velo-cardio-facial syndrome/DiGeorge syndrome is associated with hemizygous 22q11 deletions and characterized by defects in the derivatives of the ..
  73. Molecular recognition and regulation in microRNA processing by the DGCR8 protein
    Feng Guo; Fiscal Year: 2007
    ..and function of a key factor-an human RNA binding protein called DGCR8 that is heterozygously deleted in DiGeorge syndrome patients...
  74. Molecular Basis of Monosomy 1p36
    Bernice Morrow; Fiscal Year: 2005
    ..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...
  75. Mammalian Septin GTP-Binding Proteins
    Ian Macara; Fiscal Year: 2004
    ..The CDCrel-1 septin gene is deleted in some velo-facio DiGeorge syndrome patients...