Colleen A Morris

Summary

Affiliation: University of Nevada
Country: USA

Publications

  1. ncbi Introduction: Williams syndrome
    Colleen A Morris
    Am J Med Genet C Semin Med Genet 154:203-8. 2010
  2. ncbi Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe
    Colleen A Morris
    Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada, USA
    Mol Cytogenet 4:7. 2011
  3. ncbi The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment
    Colleen A Morris
    Genetics Division of the Department of Pediatrics at the University of Nevada School of Medicine, USA
    Am J Med Genet C Semin Med Genet 154:427-31. 2010
  4. ncbi Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome
    Colleen A Morris
    Department of Pediatrics, University of Nevada School of Medicine, NV, USA
    Am J Med Genet C Semin Med Genet 154:299-306. 2010
  5. ncbi GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region
    Colleen A Morris
    Department of Pediatrics, Division of Genetics, University of Nevada School of Medicine, Las Vegas, Nevada 89102, USA
    Am J Med Genet A 123:45-59. 2003
  6. ncbi Genetic counseling of adults with Williams syndrome: a first study
    Katrina Farwig
    Department of Pediatrics, University of Nevada School of Medicine, NV, USA
    Am J Med Genet C Semin Med Genet 154:307-15. 2010
  7. ncbi BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome
    Kendra W Kimberley
    Department of Pediatrics Division of Genetics, University of Nevada School of Medicine, Las Vegas, NV, USA
    BMC Med Genet 7:46. 2006
  8. ncbi 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
  9. ncbi Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management
    Angela E Lin
    Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
    Genet Med 10:469-94. 2008
  10. ncbi Heat shock protein 27 gene: chromosomal and molecular location and relationship to Williams syndrome
    A Dean Stock
    Department of Pediatrics, Division of Genetics, Laboratory of Molecular Cytogenetics, University of Nevada School of Medicine, Las Vegas 89102, USA
    Am J Med Genet A 120:320-5. 2003

Collaborators

Detail Information

Publications11

  1. ncbi Introduction: Williams syndrome
    Colleen A Morris
    Am J Med Genet C Semin Med Genet 154:203-8. 2010
    ..The results of current research not only recommend interventions that can be implemented now, but also identify areas requiring additional investigation, and suggest future therapeutic approaches...
  2. ncbi Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe
    Colleen A Morris
    Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada, USA
    Mol Cytogenet 4:7. 2011
    ..Results indicated that Frohnauer et al.'s data are consistent with previously reported frequencies of 7q11.23 inversion in North America and Spain in both transmitting parents and the general population...
  3. ncbi The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment
    Colleen A Morris
    Genetics Division of the Department of Pediatrics at the University of Nevada School of Medicine, USA
    Am J Med Genet C Semin Med Genet 154:427-31. 2010
    ..Continued study of cognition, behavior, neuroanatomy, and function in WS will continue to elucidate the neurogenetic underpinnings of human behavior...
  4. ncbi Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome
    Colleen A Morris
    Department of Pediatrics, University of Nevada School of Medicine, NV, USA
    Am J Med Genet C Semin Med Genet 154:299-306. 2010
    ..These findings suggest that genes important in elastin metabolism are candidates for variability in the connective tissue abnormalities in WS...
  5. ncbi GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region
    Colleen A Morris
    Department of Pediatrics, Division of Genetics, University of Nevada School of Medicine, Las Vegas, Nevada 89102, USA
    Am J Med Genet A 123:45-59. 2003
    ..Comparison of these five families with reports of other individuals with partial deletions of the WS region most strongly implicates GTF2I in the mental retardation of WS...
  6. ncbi Genetic counseling of adults with Williams syndrome: a first study
    Katrina Farwig
    Department of Pediatrics, University of Nevada School of Medicine, NV, USA
    Am J Med Genet C Semin Med Genet 154:307-15. 2010
    ....
  7. ncbi BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome
    Kendra W Kimberley
    Department of Pediatrics Division of Genetics, University of Nevada School of Medicine, Las Vegas, NV, USA
    BMC Med Genet 7:46. 2006
    ..Recent studies have focused on possible duplications in the 8p22-8p23.1 region but no consensus has been reached...
  8. ncbi 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...
  9. ncbi Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management
    Angela E Lin
    Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
    Genet Med 10:469-94. 2008
    ..New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome...
  10. ncbi Heat shock protein 27 gene: chromosomal and molecular location and relationship to Williams syndrome
    A Dean Stock
    Department of Pediatrics, Division of Genetics, Laboratory of Molecular Cytogenetics, University of Nevada School of Medicine, Las Vegas 89102, USA
    Am J Med Genet A 120:320-5. 2003
    ..B363M4 was demonstrated to overlap the telomeric end of B161A02 and HSP27 may be contained partially within the telomeric end of B161A02. The possible role of HSP27 in the cognitive features of WS is discussed...
  11. ncbi Behavioral phenotypes in genetic syndromes: genetic clues to human behavior
    Suzanne B Cassidy
    Department of Pediatrics, University of California, Irvine, USA
    Adv Pediatr 49:59-86. 2002
    ..The genetic basis for each of these disorders is known, and the pathophysiology and genotype-phenotype correlations are beginning to provide insight into genes responsible for personality characteristics and behavioral abnormalities...