Alasdair G Hunter

Summary

Publications

  1. pmc Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs
    Alasdair G W Hunter
    Eastern Ontario Genetics Program, Children s Hospital of Eastern Ontario, and University of Ottawa
    CMAJ 167:367-72. 2002
  2. ncbi Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes
    Alasdair G W Hunter
    Eastern Ontario Genetics Program, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet 111:345-55. 2002
  3. ncbi A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients
    A G W Hunter
    Department of Genetics, Children s Hospital of Eastern Ontario CHEO, Ottawa, Ontario, Canada
    Clin Genet 67:303-13. 2005
  4. ncbi The external ear: more attention to detail may aid syndrome diagnosis and contribute answers to embryological questions
    Alasdair G W Hunter
    Eastern Ontario Genetics Program, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 135:237-50. 2005
  5. doi Human equivalent of mouse disorganization: Has the case been made?
    Alasdair G W Hunter
    Genetics Patient Service Unit, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 155:792-804. 2011
  6. doi Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas
    Alasdair G W Hunter
    Greenwood Genetics Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:657-64. 2010
  7. doi The elements of morphology: ear--an initial approach for the incisura
    Alasdair G Hunter
    Greenwood Genetics Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:401-3. 2010
  8. doi Elements of morphology: standard terminology for the ear
    Alasdair Hunter
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 149:40-60. 2009
  9. ncbi Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?
    Alasdair G W Hunter
    Genetics Patient Service Unit, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 140:709-26. 2006
  10. ncbi Is multicenter collaborative research in clinical genetics dead and, if so, what killed it?
    Alasdair G W Hunter
    529 Clarence St East, Ottawa, Ontario, Canada
    Am J Med Genet A 134:237-9. 2005

Detail Information

Publications16

  1. pmc Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs
    Alasdair G W Hunter
    Eastern Ontario Genetics Program, Children s Hospital of Eastern Ontario, and University of Ottawa
    CMAJ 167:367-72. 2002
    ..Cytogenetic and molecular techniques continue to improve our ability to make precise syndrome diagnoses; however, these tests are expensive and should be used selectively...
  2. ncbi Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes
    Alasdair G W Hunter
    Eastern Ontario Genetics Program, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet 111:345-55. 2002
    ..There are few data on patients over the age of 30, and much more longer term follow-up is required...
  3. ncbi A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients
    A G W Hunter
    Department of Genetics, Children s Hospital of Eastern Ontario CHEO, Ottawa, Ontario, Canada
    Clin Genet 67:303-13. 2005
    ....
  4. ncbi The external ear: more attention to detail may aid syndrome diagnosis and contribute answers to embryological questions
    Alasdair G W Hunter
    Eastern Ontario Genetics Program, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 135:237-50. 2005
    ....
  5. doi Human equivalent of mouse disorganization: Has the case been made?
    Alasdair G W Hunter
    Genetics Patient Service Unit, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 155:792-804. 2011
    ..Many non-ABS HEDs patients had equally valid alternative hypothesis or diagnoses, malformations unreported or unusual for the Ds mouse, and/or paucity of the more unusual anomalies of the Ds mouse...
  6. doi Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas
    Alasdair G W Hunter
    Greenwood Genetics Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:657-64. 2010
    ..We also look at some aspects of the financial cost/benefit ratio of further investigation of TS beyond a clinical examination...
  7. doi The elements of morphology: ear--an initial approach for the incisura
    Alasdair G Hunter
    Greenwood Genetics Center, Greenwood, South Carolina, USA
    Am J Med Genet A 152:401-3. 2010
    ..2009); Am J Med Genet Part A 149A: 40-60]. That publication did not include the incisura. This article provides an approach to assessing the incisura in the hope that others may find it useful and/or modify it as appropriate...
  8. doi Elements of morphology: standard terminology for the ear
    Alasdair Hunter
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 149:40-60. 2009
    ..Here we introduce the anatomy of the ear and define and illustrate the terms that describe the major characteristics of the ear...
  9. ncbi Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?
    Alasdair G W Hunter
    Genetics Patient Service Unit, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 140:709-26. 2006
    ..In the absence of anomalies in those systems, or if histopathology or appropriate imaging is unavailable, the diagnosis in some cases will continue to remain uncertain; this is not an argument for lumping the syndromes...
  10. ncbi Is multicenter collaborative research in clinical genetics dead and, if so, what killed it?
    Alasdair G W Hunter
    529 Clarence St East, Ottawa, Ontario, Canada
    Am J Med Genet A 134:237-9. 2005
    ..Factors that are thought to have contributed to the failure are discussed, in the hope that others can avoid some of the pitfalls...
  11. ncbi Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement
    Alasdair G W Hunter
    Eastern Ontario Genetics Program, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet 112:79-85. 2002
    ....
  12. doi Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?
    Alasdair G W Hunter
    JC Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, USA
    Am J Med Genet A 155:2045-59. 2011
    ..We propose a new explanation for the atypical facial clefts and cranial malformations that are often observed...
  13. doi Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations
    Melissa T Carter
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 149:246-50. 2009
    ..In addition, we describe the phenotype and X-inactivation pattern in two females heterozygous for PHF6 mutations, both of whom have mild features of the syndrome...
  14. ncbi A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa
    Linlea Armstrong
    Eastern Ontario Genetics Program, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 119:57-62. 2003
    ..We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa...
  15. ncbi A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved
    M Elizabeth McCready
    Ottawa Health Research Institute, 501 Smyth Road, Rm 4G 101, Ottawa, Ontario, Canada, K1H 8L6
    Hum Genet 111:368-75. 2002
    ....
  16. doi Gastroschisis: clinical presentation and associations
    Alasdair G W Hunter
    Pediatrics at University of Ottawa
    Am J Med Genet C Semin Med Genet 148:219-30. 2008
    ..Prominent among these are cardiac and limb defects. Fetal and neonatal mortality are increased, but neither appear related to lethal malformations...