Lesley C Ades

Summary

Affiliation: The Children's Hospital at Westmead
Country: Australia

Publications

  1. ncbi request reprint Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations
    Lesley C Ades
    Marfan Research Group, Department of Clinical Genetics, The Children s Hospital at Westmead, LB 4001, Westmead, NSW 2145, Australia
    Am J Med Genet 109:261-70. 2002
  2. ncbi request reprint Guidelines for the diagnosis and management of Marfan syndrome
    Lesley Ades
    Department of Clinical Genetics, The Children s Hospital at Westmead, NSW, Australia
    Heart Lung Circ 16:28-30. 2007
  3. ncbi request reprint FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited
    L C Ades
    Marfan Research Group, The Children s Hospital at Westmead, New South Wales, Australia
    Am J Med Genet A 140:1047-58. 2006
  4. doi request reprint Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases
    Lesley C Ades
    Department of Clinical Genetics Marfan Research Group, The Children s Hospital at Westmead Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    Clin Dysmorphol 17:243-8. 2008
  5. ncbi request reprint Out of captivity
    Lesley C Ades
    Clinical Genetics, Children s Hospital at Westmead, Sydney, NSW
    Med J Aust 181:628-30. 2004
  6. ncbi request reprint EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?
    Kenneth Maclean
    Department of Clinical Genetics, Children s Hospital at Westmead CHW, Sydney, Australia
    Am J Med Genet A 143:1114-9. 2007
  7. ncbi request reprint Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome
    Kenneth Maclean
    Department of Clinical Genetics, The Children s Hospital at Westmead, Sydney, New South Wales, Australia
    Am J Med Genet A 132:381-5. 2005
  8. ncbi request reprint Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?
    Ingrid B Sinnerbrink
    Department of Clinical Genetics, The Western Sydney Genetics Program, The Children s Hospital at Westmead, Randwick NSW, Sydney, Australia
    Clin Dysmorphol 13:173-7. 2004
  9. ncbi request reprint Ectopia lentis phenotypes and the FBN1 gene
    Lesley C Ades
    Marfan Research Group, The Children s Hospital at Westmead, Westmead, New South Wales, Australia
    Am J Med Genet A 126:284-9. 2004
  10. ncbi request reprint A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero
    Katherine R Neas
    Department of Clinical Genetics, The Children s Hospital at Westmead, NSW, Australia
    Clin Dysmorphol 12:179-81. 2003

Collaborators

Detail Information

Publications10

  1. ncbi request reprint Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations
    Lesley C Ades
    Marfan Research Group, Department of Clinical Genetics, The Children s Hospital at Westmead, LB 4001, Westmead, NSW 2145, Australia
    Am J Med Genet 109:261-70. 2002
    ..This previously undescribed phenotype represents yet another in the widening spectrum of fibrillinopathies caused by an FBN1 gene mutation...
  2. ncbi request reprint Guidelines for the diagnosis and management of Marfan syndrome
    Lesley Ades
    Department of Clinical Genetics, The Children s Hospital at Westmead, NSW, Australia
    Heart Lung Circ 16:28-30. 2007
  3. ncbi request reprint FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited
    L C Ades
    Marfan Research Group, The Children s Hospital at Westmead, New South Wales, Australia
    Am J Med Genet A 140:1047-58. 2006
    ..These findings support the notion that perturbation of extracellular matrix homeostasis and/or remodeling caused by abnormal TGF-beta signaling is the core pathogenetic mechanism in MFS and related entities including the MD-CS syndromes...
  4. doi request reprint Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases
    Lesley C Ades
    Department of Clinical Genetics Marfan Research Group, The Children s Hospital at Westmead Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    Clin Dysmorphol 17:243-8. 2008
    ..Although not exclusive to LDS II alone, recognition of these facial features may assist in the differentiation of LDS II from closely related conditions, and facilitate diagnosis and appropriate investigations and management...
  5. ncbi request reprint Out of captivity
    Lesley C Ades
    Clinical Genetics, Children s Hospital at Westmead, Sydney, NSW
    Med J Aust 181:628-30. 2004
  6. ncbi request reprint EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?
    Kenneth Maclean
    Department of Clinical Genetics, Children s Hospital at Westmead CHW, Sydney, Australia
    Am J Med Genet A 143:1114-9. 2007
    ..Of the six cases/families now reported with EEC syndrome and Arg227Gln TP63 mutation, four have manifested this distinct urological abnormality, indicative of a genotype-phenotype correlation...
  7. ncbi request reprint Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome
    Kenneth Maclean
    Department of Clinical Genetics, The Children s Hospital at Westmead, Sydney, New South Wales, Australia
    Am J Med Genet A 132:381-5. 2005
    ..CNS anomalies included hydrocephalus and hypoplasia of the cerebellum, brainstem, and corpus callosum with mild to moderate developmental delay. Unlike previous reports, hearing was normal...
  8. ncbi request reprint Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?
    Ingrid B Sinnerbrink
    Department of Clinical Genetics, The Western Sydney Genetics Program, The Children s Hospital at Westmead, Randwick NSW, Sydney, Australia
    Clin Dysmorphol 13:173-7. 2004
    ..We have reviewed similar cases in the literature and discuss these in the context of our cases, who may have a previously undescribed syndrome...
  9. ncbi request reprint Ectopia lentis phenotypes and the FBN1 gene
    Lesley C Ades
    Marfan Research Group, The Children s Hospital at Westmead, Westmead, New South Wales, Australia
    Am J Med Genet A 126:284-9. 2004
    ..It also raises the possibility that R240C may prove to be a relative mutational "hot-spot" for isolated EL. We review the current literature regarding EL (isolated and other) and FBN1 mutations...
  10. ncbi request reprint A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero
    Katherine R Neas
    Department of Clinical Genetics, The Children s Hospital at Westmead, NSW, Australia
    Clin Dysmorphol 12:179-81. 2003
    ..Severe bilateral hydronephrosis was diagnosed at a 31 week prenatal ultrasound scan. Both the patient phenotype and the partial trisomy are unusual, the latter due to the complex nature of the chromosomal rearrangement...