Biomedical subjects

Peter Hammond

Publications and source records attributed to Peter Hammond.

5 recordsLinked to original sources

PubMed2005

GTF2IRD1 in craniofacial development of humans and mice.

Craniofacial abnormalities account for about one-third of all human congenital defects, but our understanding of the genetic mechanisms governing craniofacial development is incomplete. We show that GTF2IRD1 is a genetic determinant of mammalian craniofacial and cognitive development, and we implicate another member of the TFII-I transcription factor family, GTF2I, in both aspects. Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1. In humans, a rare WBS individual with an atypical deletion, including GTF2IRD1, shows facial dysmorphism and cognitive deficits that differ from those of classic WBS cases. We propose a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders.

Adolescent↗

PubMed2005

Discriminating power of localized three-dimensional facial morphology.

Many genetic syndromes involve a facial gestalt that suggests a preliminary diagnosis to an experienced clinical geneticist even before a clinical examination and genotyping are undertaken. Previously, using visualization and pattern recognition, we showed that dense surface models (DSMs) of full face shape characterize facial dysmorphology in Noonan and in 22q11 deletion syndromes. In this much larger study of 696 individuals, we extend the use of DSMs of the full face to establish accurate discrimination between controls and individuals with Williams, Smith-Magenis, 22q11 deletion, or Noonan syndromes and between individuals with different syndromes in these groups. However, the full power of the DSM approach is demonstrated by the comparable discriminating abilities of localized facial features, such as periorbital, perinasal, and perioral patches, and the correlation of DSM-based predictions and molecular findings. This study demonstrates the potential of face shape models to assist clinical training through visualization, to support clinical diagnosis of affected individuals through pattern recognition, and to enable the objective comparison of individuals sharing other phenotypic or genotypic properties.

Adult↗

PubMed2004

3D analysis of facial morphology.

Dense surface models can be used to analyze 3D facial morphology by establishing a correspondence of thousands of points across each 3D face image. The models provide dramatic visualizations of 3D face-shape variation with potential for training physicians to recognize the key components of particular syndromes. We demonstrate their use to visualize and recognize shape differences in a collection of 3D face images that includes 280 controls (2 weeks to 56 years of age), 90 individuals with Noonan syndrome (NS) (7 months to 56 years), and 60 individuals with velo-cardio-facial syndrome (VCFS; 3 to 17 years of age). Ten-fold cross-validation testing of discrimination between the three groups was carried out on unseen test examples using five pattern recognition algorithms (nearest mean, C5.0 decision trees, neural networks, logistic regression, and support vector machines). For discriminating between individuals with NS and controls, the best average sensitivity and specificity levels were 92 and 93% for children, 83 and 94% for adults, and 88 and 94% for the children and adults combined. For individuals with VCFS and controls, the best results were 83 and 92%. In a comparison of individuals with NS and individuals with VCFS, a correct identification rate of 95% was achieved for both syndromes. 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.

Abnormalities, Multiple↗

PubMed2003

Double photoexcitation of helium in a strong dc electric field.

We report the first experimental measurements of the effect of an applied field on the photoexcitation and autoionization of doubly excited states of helium. Ground-state photoionization spectra have been measured in the region below the He+(N=2) threshold with static electric fields of up to 84.4 kV/cm across the interaction region. The results are compared to the theoretical calculations of Chung et al. [J. Phys. B 34, 165 (2001)]], which are the only calculations available in this regime. Transitions to several states in the N=2, n=6 manifold are assigned, and a wealth of new structure is observed. Our data show that many more series are mixed in by the field than those predicted by theory.

Journal Article↗

PubMed2003

Estimating average growth trajectories in shape-space using kernel smoothing.

In this paper, we show how a dense surface point distribution model of the human face can be computed and demonstrate the usefulness of the high-dimensional shape-space for expressing the shape changes associated with growth and aging. We show how average growth trajectories for the human face can be computed in the absence of longitudinal data by using kernel smoothing across a population. A training set of three-dimensional surface scans of 199 male and 201 female subjects of between 0 and 50 years of age is used to build the model.

Adolescent↗