Research Topics
| Judith E AllansonSummaryAffiliation: Children's Hospital of Eastern Ontario Country: Canada Publications
| Collaborators
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Detail Information
Publications
3D analysis of facial morphologyPeter 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...
Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotypeJudith 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...- Introduction to Judith Hall FestschriftJudith Allanson
Children's Hospital of Eastern Ontario, Ottawa, ON, Canada
Am J Med Genet A 140:111-3. 2006 - A second family with blepharo-naso-facial syndromeJudith 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... 
Elements of morphology: standard terminology for the head and faceJudith 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...- 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... - 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... - Noonan syndromeJudith 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... - Rett syndrome: a study of the faceJudith 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... - 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... - Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicismWalla 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... - Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea 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... - The face of Noonan syndrome: Does phenotype predict genotypeJudith 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... - Trisomy 9p and Prader-Willi syndromes in an infant resulting from a de-novo unbalanced t(9;15) translocationMelissa T Carter
Eastern Ontario Regional Genetics Program, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
Clin Dysmorphol 18:103-6. 2009.... - De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotypeLinlea 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... - Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37Linlea 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... - Elements of morphology: introductionJudith 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... - Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysmMaha 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... - Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotypeMałgorzata 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... - Pitfalls of genetic diagnosis in the adolescent: the changing faceJudith 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... - Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007Katherine 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 - Discriminating power of localized three-dimensional facial morphologyPeter Hammond
Eastman Dental Institute, University College London, London, WC1X 8LD, United Kingdom
Am J Hum Genet 77:999-1010. 2005.... - A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24Xavier 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...