R B Lowry

Summary

Affiliation: University of Calgary
Country: Canada

Publications

  1. ncbi Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene
    R B Lowry
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Calgary, Alberta, Canada
    Am J Med Genet 104:112-9. 2001
  2. ncbi Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
    K N Alagramam
    Department of Pediatrics, Rainbow Babies and Children s Hospital, University Hospitals of Cleveland, Case Western Reserve University, Cleveland, OH, USA
    Hum Mol Genet 10:1709-18. 2001
  3. pmc Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)
    I Meloni
    J Med Genet 39:359-65. 2002
  4. ncbi Bowen-Conradi syndrome: a clinical and genetic study
    R B Lowry
    Department of Medical Genetics, Alberta Children s Hospital and the University of Calgary, Canada
    Am J Med Genet A 120:423-8. 2003

Collaborators

  • Richard J Smith
  • I Meloni
  • K N Alagramam
  • R Tonlorenzi
  • E Rossi
  • C E Kashtan
  • G Rizzoni
  • B Pober
  • F Vitelli
  • L Pucci
  • M Ventura
  • A Renieri
  • G S Hagemen
  • C L Murcia
  • C R Srisailpathy
  • R Knaus
  • M H Kuehn
  • H Yuan
  • F P Bernier
  • R F Mullins
  • G S Hageman
  • S Schwartz
  • C Lee
  • C C Morton
  • G Van Camp
  • L Van Laer
  • R P Woychik
  • S Wayne
  • A Ramesh

Detail Information

Publications4

  1. ncbi Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene
    R B Lowry
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Calgary, Alberta, Canada
    Am J Med Genet 104:112-9. 2001
    ..We also report a single case with an identical phenotype without the mutation...
  2. ncbi Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
    K N Alagramam
    Department of Pediatrics, Rainbow Babies and Children s Hospital, University Hospitals of Cleveland, Case Western Reserve University, Cleveland, OH, USA
    Hum Mol Genet 10:1709-18. 2001
    ..This report shows that protocadherins are essential for maintenance of normal retinal and cochlear function...
  3. pmc Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)
    I Meloni
    J Med Genet 39:359-65. 2002
  4. ncbi Bowen-Conradi syndrome: a clinical and genetic study
    R B Lowry
    Department of Medical Genetics, Alberta Children s Hospital and the University of Calgary, Canada
    Am J Med Genet A 120:423-8. 2003
    ..For those who were not seen, their clinical record were scrutinized. Pedigree analysis of all 39 was done and kinship coefficients computed. The birth prevalence was estimated to be 1/355 live births...