Judith E Allanson

Summary

Affiliation: Children's Hospital of Eastern Ontario
Country: Canada

Publications

  1. ncbi request reprint 3D analysis of facial morphology
    Peter Hammond
    Eastman Dental Institute, UCL, London, United Kingdom
    Am J Med Genet A 126:339-48. 2004
  2. doi request reprint Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
    Judith Allanson
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 158:2091-9. 2012
  3. ncbi request reprint Introduction to Judith Hall Festschrift
    Judith Allanson
    Children s Hospital of Eastern Ontario, Ottawa, ON, Canada
    Am J Med Genet A 140:111-3. 2006
  4. ncbi request reprint A second family with blepharo-naso-facial syndrome
    Judith E Allanson
    Eastern Ontario Regional Genetics Program, Children s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON K1H 8L1, Canada
    Clin Dysmorphol 11:191-4. 2002
  5. pmc Elements of morphology: standard terminology for the head and face
    Judith E Allanson
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 149:6-28. 2009
  6. ncbi request reprint Holt-Oram syndrome: is there a "face"?
    Judith E Allanson
    Eastern Ontario Regional Genetics Program, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 118:314-8. 2003
  7. pmc Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
    Judith E Allanson
    Department of Genetics at Children s Hospital of Eastern Ontario
    Am J Med Genet C Semin Med Genet 157:129-35. 2011
  8. ncbi request reprint Noonan syndrome
    Judith E Allanson
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet C Semin Med Genet 145:274-9. 2007
  9. doi request reprint Rett syndrome: a study of the face
    Judith E Allanson
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 155:1563-7. 2011
  10. ncbi request reprint A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter)
    Christine M Armour
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Clin Dysmorphol 17:23-6. 2008

Collaborators

Detail Information

Publications23

  1. ncbi request reprint 3D analysis of facial morphology
    Peter Hammond
    Eastman Dental Institute, UCL, London, United Kingdom
    Am J Med Genet A 126:339-48. 2004
    ..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html...
  2. doi request reprint Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
    Judith Allanson
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 158:2091-9. 2012
    ..These findings indicate that deletion of the 8q21.3q22.1 region is necessary but not sufficient for development of the NMLFS. We discuss possible genetic mechanisms underlying the complex pattern of inheritance for this condition...
  3. ncbi request reprint Introduction to Judith Hall Festschrift
    Judith Allanson
    Children s Hospital of Eastern Ontario, Ottawa, ON, Canada
    Am J Med Genet A 140:111-3. 2006
  4. ncbi request reprint A second family with blepharo-naso-facial syndrome
    Judith E Allanson
    Eastern Ontario Regional Genetics Program, Children s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON K1H 8L1, Canada
    Clin Dysmorphol 11:191-4. 2002
    ..To date, studies of PAX3 have failed to reveal a mutation...
  5. pmc Elements of morphology: standard terminology for the head and face
    Judith E Allanson
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 149:6-28. 2009
    ..Here we introduce the anatomy of the craniofacies and define and illustrate the terms that describe the major characteristics of the cranium and face...
  6. ncbi request reprint Holt-Oram syndrome: is there a "face"?
    Judith E Allanson
    Eastern Ontario Regional Genetics Program, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 118:314-8. 2003
    ..quot; Nasal height is, in fact, reduced at all ages. There does not appear to be a syndrome-specific pattern profile to facilitate the discrimination of this condition from other heart-hand syndromes...
  7. pmc Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
    Judith E Allanson
    Department of Genetics at Children s Hospital of Eastern Ontario
    Am J Med Genet C Semin Med Genet 157:129-35. 2011
    ..Pulmonary stenosis is the only anomaly that demonstrates a statistically significant genotype–phenotype correlation, being more common in individuals with a BRAF mutation...
  8. ncbi request reprint Noonan syndrome
    Judith E Allanson
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet C Semin Med Genet 145:274-9. 2007
    ..Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits...
  9. doi request reprint Rett syndrome: a study of the face
    Judith E Allanson
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 155:1563-7. 2011
    ..Thus, while Rett and Angelman syndromes have similar clinical, neurological, and behavioral phenotypes, they do not appear to share similar facial features...
  10. ncbi request reprint A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter)
    Christine M Armour
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Clin Dysmorphol 17:23-6. 2008
    ..She does manifest characteristics, such as short stature and biochemical evidence of ovarian failure, which are seen in partial or complete Xp deletions and Turner's syndrome...
  11. doi request reprint Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism
    Walla Al-Hertani
    Department of Genetics, Children s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada
    Am J Med Genet A 158:1452-4. 2012
    ..However there have been a few reports describing the phenotype of individuals with trisomy 12 mosaicism. This case report is a description of the eighth liveborn individual diagnosed postnatally with this condition...
  12. 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...
  13. pmc The face of Noonan syndrome: Does phenotype predict genotype
    Judith E Allanson
    Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 152:1960-6. 2010
    ..Thus, the facial phenotype, alone, is insufficient to predict the genotype, but certain facial features may facilitate an educated guess in some cases...
  14. doi request reprint Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocation
    Melissa T Carter
    Eastern Ontario Regional Genetics Program, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Clin Dysmorphol 18:103-6. 2009
    ....
  15. ncbi request reprint De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype
    Linlea Armstrong
    Eastern Ontario RegionalGenetics Program, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 116:71-6. 2003
    ..We suggest that functional disomy of the duplicated X material, due to local escape from inactivation, may be responsible for the phenotype in the affected females...
  16. ncbi request reprint Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 134:299-304. 2005
    ..This report should be considered in the reproductive counseling of individuals with pericentric inversions of chromosome 2...
  17. pmc Elements of morphology: introduction
    Judith E Allanson
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 149:2-5. 2009
    ..Here we describe the general background of the project and the various issues we have tried to take into account in defining the terms...
  18. doi request reprint Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm
    Maha Al-Mohaissen
    Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada
    Vasc Med 17:326-9. 2012
    ..This expands the spectrum of vascular disease associated with ACTA2 mutation to include acute limb ischemia...
  19. doi request reprint Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype
    Małgorzata J M Nowaczyk
    Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada
    Am J Med Genet A 158:1020-8. 2012
    ..001 and P < 0.002, respectively), suggesting that the degree of deviation from craniofacial norms is a function of the overall physical severity...
  20. ncbi request reprint Pitfalls of genetic diagnosis in the adolescent: the changing face
    Judith E Allanson
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Adolesc Med 13:257-68, vi. 2002
    ..This approach is particularly helpful in the evaluation of adolescents and adults. Lastly, experience should never be underestimated; the opinion of a geneticist may be invaluable...
  21. doi request reprint Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
    Am J Med Genet A 146:1205-17. 2008
  22. pmc Discriminating power of localized three-dimensional facial morphology
    Peter Hammond
    Eastman Dental Institute, University College London, London, WC1X 8LD, United Kingdom
    Am J Hum Genet 77:999-1010. 2005
    ....
  23. ncbi request reprint A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24
    Xavier J de Mollerat
    Center for Molecular Studies, J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC, USA
    Hum Mol Genet 12:1959-71. 2003
    ..This duplicated region contained a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and beta-TRCP genes, known to be involved in limb development. The possible role of these genes in the SHFM3 phenotype is discussed...