Patricia G Wheeler
Affiliation: Alfred I. duPont Hospital for Children
- Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girlPatricia G Wheeler
Division of Genetics and Metabolism, Nemours Children s Clinic, Orlando, Florida, USA
Am J Med Genet A 133:78-81. 2005..We report on a young girl who inherited both disorders, review similar cases reported in the world literature, and discuss possible implications of the presence of NF1 and TSC in the same individual...
- Adults with VATER association: long-term prognosisPatricia G Wheeler
Division of Genetics Metabolism, Nemours Children s Clinic, Orlando, FL 32806, USA
Am J Med Genet A 138:212-7. 2005..In two women, the infertility was thought to be related to congenital anomalies of the genitourinary system and multiple pelvic operations. We also present the long-term medical and neurologic problems in these individuals...
- 8q23-q24 duplication--further delineation of a rare chromosomal abnormalityPatricia G Wheeler
Division of Genetics, Nemours Children s Clinic, Orlando, Florida 32806, USA
Am J Med Genet A 152:459-63. 2010..The area duplicated includes at least 47 genes including TRPS1 and EXT1. Her features will be described and compared to two similar cases...
- Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndromeKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children Nemours Childrens Clinic, Wilmington, DE 19899, USA
Am J Med Genet A 143:1472-80. 2007..Based on these clinical differences we suggest that patients with BRAF and MEK mutations should be diagnosed with CFC syndrome, and the diagnosis of Costello syndrome be reserved for patients with HRAS mutations...
- Short stature and functional impairment: a systematic reviewPatricia G Wheeler
Division of Genetics, Department of Pediatrics, Tufts University School of Medicine, Floating Hospital for Children, Boston, MA, USA
Arch Pediatr Adolesc Med 158:236-43. 2004..To review the available evidence on the association between primary short stature and intellectual and physical dysfunction among children...
- Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndromeCheryl Descipio
Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
Am J Med Genet A 134:3-11. 2005..Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified...
- Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1Natasha Shur
Albert Einstein College of Medicine, Bronx, New York, USA
Am J Med Genet A 120:542-6. 2003..The specific breakpoints in our patient and the other patients with similar deletions may also assist in determining a critical region for suture formation...