Alasdair G Hunter

Summary

Publications

  1. Hunter A. Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. Am J Med Genet. 2002;111:345-55 pubmed
    ..There are few data on patients over the age of 30, and much more longer term follow-up is required...
  2. Hunter A, Nezarati M, Velsher L. Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas. Am J Med Genet A. 2010;152A:657-64 pubmed publisher
    ..We also look at some aspects of the financial cost/benefit ratio of further investigation of TS beyond a clinical examination. ..
  3. Hunter A, Jarvis J. Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement. Am J Med Genet. 2002;112:79-85 pubmed
  4. Hunter A. Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?. Am J Med Genet A. 2006;140:709-26 pubmed
    ..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. ..
  5. Hunter A, Seaver L, Stevenson R. Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?. Am J Med Genet A. 2011;155A:2045-59 pubmed publisher
    ..We propose a new explanation for the atypical facial clefts and cranial malformations that are often observed. ..
  6. Hunter A. Is multicenter collaborative research in clinical genetics dead and, if so, what killed it?. Am J Med Genet A. 2005;134:237-9 pubmed
    ..Factors that are thought to have contributed to the failure are discussed, in the hope that others can avoid some of the pitfalls...
  7. Hunter A, Frias J, Gillessen Kaesbach G, Hughes H, Jones K, Wilson L. Elements of morphology: standard terminology for the ear. Am J Med Genet A. 2009;149A:40-60 pubmed publisher
    ..Here we introduce the anatomy of the ear and define and illustrate the terms that describe the major characteristics of the ear...