Jeffrey E Ming

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. ncbi request reprint TGIF, a gene associated with human brain defects, regulates neuronal development
    Jessica L Knepper
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Dev Dyn 235:1482-90. 2006
  2. ncbi request reprint Autoimmune disorders in Kabuki syndrome
    Jeffrey E Ming
    Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 132:260-2. 2005
  3. ncbi request reprint Type I bone morphogenetic protein receptors are expressed on cerebellar granular neurons and a constitutively active form of the type IA receptor induces cerebellar abnormalities
    J E Ming
    Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children s Hospital of Philadelphia, PA 19104, USA
    Neuroscience 114:849-57. 2002
  4. ncbi request reprint Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities
    Jeffrey E Ming
    Department of Pediatrics, Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Crit Rev Clin Lab Sci 40:587-642. 2003
  5. ncbi request reprint Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association
    Jeffrey E Ming
    Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 123:249-52. 2003
  6. doi request reprint Revision of "A 223-kb de novo deletion of PAX9 in a patient with oligodontia"
    Chad R Haldeman-Englert
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    J Craniofac Surg 23:e149-51. 2012
  7. ncbi request reprint Immune abnormalities are a frequent manifestation of Kabuki syndrome
    Jodi D Hoffman
    Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 135:278-81. 2005
  8. ncbi request reprint Symptomatic Chiari I malformation in Kabuki syndrome
    Karen L Ciprero
    Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 132:273-5. 2005
  9. ncbi request reprint Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays
    Jeffrey E Ming
    Division of Human Genetics, Stokes Research Institute, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 27:467-73. 2006
  10. doi request reprint A 223-kb de novo deletion of PAX9 in a patient with oligodontia
    Chad R Haldeman-Englert
    Division of Human Genetics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    J Craniofac Surg 21:837-9. 2010

Collaborators

Detail Information

Publications17

  1. ncbi request reprint TGIF, a gene associated with human brain defects, regulates neuronal development
    Jessica L Knepper
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Dev Dyn 235:1482-90. 2006
    ..Our data suggest that TGIF plays an important role in regulating the expression of genes expressed in specific dorsal-ventral domains during neural development...
  2. ncbi request reprint Autoimmune disorders in Kabuki syndrome
    Jeffrey E Ming
    Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 132:260-2. 2005
    ..In addition, the presence of an underlying immune defect may predispose these children to a chronic course of these autoimmune conditions...
  3. ncbi request reprint Type I bone morphogenetic protein receptors are expressed on cerebellar granular neurons and a constitutively active form of the type IA receptor induces cerebellar abnormalities
    J E Ming
    Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children s Hospital of Philadelphia, PA 19104, USA
    Neuroscience 114:849-57. 2002
    ....
  4. ncbi request reprint Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities
    Jeffrey E Ming
    Department of Pediatrics, Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Crit Rev Clin Lab Sci 40:587-642. 2003
    ..The finding of immune deficits in a number of defined syndromes with congenital anomalies suggests that an underlying genetic syndrome should be considered in those patients in whom a significant non-immune feature is present...
  5. ncbi request reprint Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association
    Jeffrey E Ming
    Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 123:249-52. 2003
    ..Thus, Kabuki syndrome should be considered in patients with coloboma if other features consistent with this condition are present, and follow-up evaluations are indicated for establishing the proper diagnosis...
  6. doi request reprint Revision of "A 223-kb de novo deletion of PAX9 in a patient with oligodontia"
    Chad R Haldeman-Englert
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    J Craniofac Surg 23:e149-51. 2012
    ..3 manifesting primarily with oligodontia. This report also supports the utility of genome-wide microarrays in determining the genetic cause of craniofacial abnormalities...
  7. ncbi request reprint Immune abnormalities are a frequent manifestation of Kabuki syndrome
    Jodi D Hoffman
    Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 135:278-81. 2005
    ..Due to this increased susceptibility to infection, children with KS should have immunologic evaluations at the time of diagnosis in order to reduce preventable morbidity and mortality...
  8. ncbi request reprint Symptomatic Chiari I malformation in Kabuki syndrome
    Karen L Ciprero
    Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 132:273-5. 2005
    ..Thus, we suggest that Chiari type I be considered in patients with Kabuki syndrome who present with persistent headache, neck pain, or other symptoms suggestive of Chiari I anomaly...
  9. ncbi request reprint Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays
    Jeffrey E Ming
    Division of Human Genetics, Stokes Research Institute, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Hum Mutat 27:467-73. 2006
    ..Their higher resolution and commercial availability make this type of microarray highly desirable for application in the diagnosis of patients with multiple congenital defects...
  10. doi request reprint A 223-kb de novo deletion of PAX9 in a patient with oligodontia
    Chad R Haldeman-Englert
    Division of Human Genetics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    J Craniofac Surg 21:837-9. 2010
    ..3 manifesting primarily with oligodontia. This report also supports the utility of genome-wide microarrays in determining the genetic cause of craniofacial abnormalities...
  11. doi request reprint Genetic syndromic immunodeficiencies with antibody defects
    Jeffrey E Ming
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia, The University of Pennsylvania School of Medicine, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA
    Immunol Allergy Clin North Am 28:715-36, vii. 2008
    ....
  12. pmc Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
    Mark C Hannibal
    Department of Pediatrics, University of Washington, Seattle, 98195, USA
    Am J Med Genet A 155:1511-6. 2011
    ..These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome...
  13. ncbi request reprint Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population
    Ieda M Orioli
    Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Am J Med Genet 108:12-5. 2002
    ..Thus, we did not identify any clearly disease-causing mutation in SHH in these patients, and conclude that SHH mutations are not a frequent cause of isolated oral clefts in humans...
  14. pmc Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
    Jeffrey E Ming
    Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    Am J Hum Genet 71:1017-32. 2002
  15. ncbi request reprint Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
    Andra Ion
    Department of Medical Genetics, St George s Medical School, Cranmer Terrace, London SW17ORE, UK
    Hum Genet 111:421-7. 2002
    ..The results showed no abnormalities in the coding region of the PTPN11 gene in any CFC patient, nor any evidence of major deletions within the gene suggesting that mutations in other gene(s) are responsible for this syndrome...
  16. ncbi request reprint Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
    ..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...
  17. ncbi request reprint What syndrome is this? Disorganization syndrome
    Chad M Hivnor
    Nellis Air Force Base, Las Vegas, Nevada, USA
    Pediatr Dermatol 24:90-2. 2007