Patricia G Wheeler

Summary

Affiliation: Alfred I. duPont Hospital for Children
Country: USA

Publications

  1. ncbi request reprint Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl
    Patricia G Wheeler
    Division of Genetics and Metabolism, Nemours Children s Clinic, Orlando, Florida, USA
    Am J Med Genet A 133:78-81. 2005
  2. ncbi request reprint Adults with VATER association: long-term prognosis
    Patricia G Wheeler
    Division of Genetics Metabolism, Nemours Children s Clinic, Orlando, FL 32806, USA
    Am J Med Genet A 138:212-7. 2005
  3. doi request reprint 8q23-q24 duplication--further delineation of a rare chromosomal abnormality
    Patricia G Wheeler
    Division of Genetics, Nemours Children s Clinic, Orlando, Florida 32806, USA
    Am J Med Genet A 152:459-63. 2010
  4. ncbi request reprint Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome
    Karen 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
  5. ncbi request reprint Short stature and functional impairment: a systematic review
    Patricia 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
  6. ncbi request reprint Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
    Cheryl 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
  7. ncbi request reprint Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1
    Natasha Shur
    Albert Einstein College of Medicine, Bronx, New York, USA
    Am J Med Genet A 120:542-6. 2003

Collaborators

Detail Information

Publications7

  1. ncbi request reprint Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl
    Patricia 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...
  2. ncbi request reprint Adults with VATER association: long-term prognosis
    Patricia 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...
  3. doi request reprint 8q23-q24 duplication--further delineation of a rare chromosomal abnormality
    Patricia 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...
  4. ncbi request reprint Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome
    Karen 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...
  5. ncbi request reprint Short stature and functional impairment: a systematic review
    Patricia 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...
  6. ncbi request reprint Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
    Cheryl 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...
  7. ncbi request reprint Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1
    Natasha 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...