A C Shaw

Summary

Country: UK

Publications

  1. ncbi Neonatal teeth in X-linked Opitz (G/BBB) syndrome
    Adam Shaw
    Department of Clinical Genetics, Guy s Hospital, London, UK
    Clin Dysmorphol 15:185-6. 2006
  2. ncbi The natural history of Noonan syndrome: a long-term follow-up study
    A C Shaw
    Medical Genetics Unit, LG Floor, Jenner Wing, St George s, University of London, Cranmer Terrace, London, UK
    Arch Dis Child 92:128-32. 2007
  3. ncbi PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    Marco Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Am J Hum Genet 70:1555-63. 2002
  4. ncbi 3D analysis of facial morphology
    Peter Hammond
    Eastman Dental Institute, UCL, London, United Kingdom
    Am J Med Genet A 126:339-48. 2004
  5. ncbi Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 75:492-7. 2004
  6. ncbi 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
  7. ncbi Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations
    Kristin Becker
    North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, and Institute of Medical Genetics, Universiyt Hospital of Wales, Cardiff, UK
    Am J Med Genet A 143:1249-52. 2007

Collaborators

Detail Information

Publications7

  1. ncbi Neonatal teeth in X-linked Opitz (G/BBB) syndrome
    Adam Shaw
    Department of Clinical Genetics, Guy s Hospital, London, UK
    Clin Dysmorphol 15:185-6. 2006
    ..Two male siblings are described with a clinical and molecular diagnosis of X-linked Opitz (G/BBB) syndrome and the previously unreported feature of neonatal mandibular incisors...
  2. ncbi The natural history of Noonan syndrome: a long-term follow-up study
    A C Shaw
    Medical Genetics Unit, LG Floor, Jenner Wing, St George s, University of London, Cranmer Terrace, London, UK
    Arch Dis Child 92:128-32. 2007
    ..To define better the adult phenotype and natural history of Noonan syndrome...
  3. ncbi PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
    Marco Tartaglia
    Department of Pediatrics, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY 10029, USA
    Am J Hum Genet 70:1555-63. 2002
    ..A PTPN11 mutation was identified in a family inheriting Noonan-like/multiple giant-cell lesion syndrome, extending the phenotypic range of disease associated with this gene...
  4. ncbi 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...
  5. ncbi Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome
    Marco Tartaglia
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Am J Hum Genet 75:492-7. 2004
    ....
  6. ncbi 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
    ....
  7. ncbi Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations
    Kristin Becker
    North Wales Clinical Genetics Service, Glan Clwyd Hospital, Rhyl, and Institute of Medical Genetics, Universiyt Hospital of Wales, Cardiff, UK
    Am J Med Genet A 143:1249-52. 2007