H J Stalker
Affiliation: University of Florida
- Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotypeHeather J Stalker
Raymond C Philips Unit and Division of Pediatric Genetics, University of Florida, Gainesville, USA
Am J Med Genet A 116:176-8. 2003..To our knowledge, this is the first report of concurrence of XYY and fragile X syndrome in the medical literature. Review of sex chromosome abnormalities associated with fragile X syndrome and phenotypic considerations are presented...
- Telegenetic medicine: improved access to services in an underserved areaH J Stalker
Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, FL 32610, USA
J Telemed Telecare 12:182-5. 2006..0001). Telegenetics allows more rapid assurance that a genetic syndrome has not been identified, or a quicker initial evaluation and diagnosis for children who do have an identifiable genetic syndrome...
- High cognitive functioning and behavioral phenotype in Pallister-Killian syndromeHeather J Stalker
Division of Pediatrics Genetics, University of Florida, Gainesville, Florida 32610, USA
Am J Med Genet A 140:1950-4. 2006....
- Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiencyR T Zori
Department of Pediatrics, College of Medicine, University of Florida, Gainesville 32610, USA
Am J Med Genet 77:8-11. 1998..This study documents a high frequency of 22q11 deletions in those presenting with VPI unrelated to overt cleft palate surgery and suggests that deletion testing should be considered in patients with VPI...
- A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor developmentAditi I Dagli
Raymond C Philip Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida 32610, USA
Am J Med Genet A 146:204-7. 2008..The MRI showed generalized, severe enlargement of the corpus callosum and thickening of the cortex. The cause for the MCC syndrome is unknown and both autosomal recessive and spontaneous dominant genetic mechanisms are possibilities...
- TFAP2A mutations result in branchio-oculo-facial syndromeJeff M Milunsky
Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118 2526, USA
Am J Hum Genet 82:1171-7. 2008..We conclude BOFS is caused by mutations involving TFAP2A. More patients need to be studied to determine possible genetic heterogeneity and to establish whether there are genotype-phenotype correlations...