A C Shaw
- Neonatal teeth in X-linked Opitz (G/BBB) syndromeAdam 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...
- The natural history of Noonan syndrome: a long-term follow-up studyA 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...
- PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneityMarco 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...
- 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...
- Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndromeMarco Tartaglia
Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
Am J Hum Genet 75:492-7. 2004....
- 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....
- Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutationsKristin 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