Elizabeth Hopkins

Summary

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

Publications

  1. doi request reprint Living with Costello syndrome: quality of life issues in older individuals
    Elizabeth Hopkins
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Nemours Children s Clinic, 1600 Rockland Rd, Wilmington, DE 19803, USA
    Am J Med Genet A 152:84-90. 2010
  2. doi request reprint Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 158:1095-101. 2012
  3. pmc Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 155:2263-8. 2011
  4. doi request reprint Assessing genotype-phenotype correlation in Costello syndrome using a severity score
    Elizabeth M McCormick
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA
    Genet Med 15:554-7. 2013
  5. doi request reprint A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware, USA
    Am J Med Genet A 158:2106-18. 2012
  6. pmc Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware
    Am J Med Genet A 155:2516-20. 2011
  7. doi request reprint High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
    Am J Med Genet A 152:1161-8. 2010
  8. doi request reprint Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes
    Karen W Gripp
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 149:868-76. 2009
  9. doi request reprint Normative growth charts for individuals with Costello syndrome
    Mary R Sammon
    Division of General Pediatrics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 158:2692-9. 2012
  10. doi request reprint Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware
    Am J Med Genet A 161:114-9. 2013

Collaborators

Detail Information

Publications11

  1. doi request reprint Living with Costello syndrome: quality of life issues in older individuals
    Elizabeth Hopkins
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Nemours Children s Clinic, 1600 Rockland Rd, Wilmington, DE 19803, USA
    Am J Med Genet A 152:84-90. 2010
    ..This information may be useful to the families and health care professionals of adults with Costello syndrome. As a measurable characteristic, QoL may have utility as a metric in future therapeutic trials...
  2. doi request reprint Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 158:1095-101. 2012
    ..None developed papillomata or a malignant tumor. Genetic counseling for Costello syndrome needs to take into consideration the particular HRAS mutation...
  3. pmc Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 155:2263-8. 2011
    ..Recurrence risk counseling for families with apparently de novo occurring autosomal dominant conditions includes discussion of germ cell mosaicism, and this report underscores the applicability of this concern to Costello syndrome...
  4. doi request reprint Assessing genotype-phenotype correlation in Costello syndrome using a severity score
    Elizabeth M McCormick
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA
    Genet Med 15:554-7. 2013
    ..Because several different missense mutations have been reported, a severity scoring system was developed to assess a possible genotype-phenotype correlation...
  5. doi request reprint A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware, USA
    Am J Med Genet A 158:2106-18. 2012
    ..While the pathogenicity of the HRAS c.266C>G change remains unproven, our data may illustrate wide functional and phenotypic variability of germline HRAS mutations...
  6. pmc Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware
    Am J Med Genet A 155:2516-20. 2011
    ..Atrial flutter required recurrent ablation of intra-atrial re-entry pathways. The mother's heterozygosity for the RBM10 mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome...
  7. doi request reprint High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
    Am J Med Genet A 152:1161-8. 2010
    ..In Costello syndrome and macrocephaly-capillary malformation syndrome disproportionate brain growth is the main factor resulting in postnatal CBTH and Chiari 1 malformation...
  8. doi request reprint Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes
    Karen W Gripp
    Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 149:868-76. 2009
    ..These variable and subtle findings can be identified in patients with MPPH. We propose that MPPH and MCM may not represent distinct entities and that the term MPPH-CM syndrome be used to describe this spectrum...
  9. doi request reprint Normative growth charts for individuals with Costello syndrome
    Mary R Sammon
    Division of General Pediatrics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
    Am J Med Genet A 158:2692-9. 2012
    ..Head circumference curves largely overlap those for average stature, reflecting relative macrocephaly...
  10. doi request reprint Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware
    Am J Med Genet A 161:114-9. 2013
    ..Hip dysplasia in three family members suggests a role for FOXC1 in the femoral head dysplasia of de Hauwere syndrome with 6p25 deletions. Further reports of clinical and molecular diagnoses will clarify genotype-phenotype correlation...
  11. doi request reprint Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware, USA
    Am J Med Genet A 155:706-16. 2011
    ..These distinctive ectodermal findings suggest a cell type specific effect of this particular mutation. Additional patients are needed to validate these findings...