Research Topics
Species | Karen W GrippSummaryAffiliation: Alfred I. duPont Hospital for Children Country: USA Publications
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Publications
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocolKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
Am J Med Genet 108:80-7. 2002..The diagnosis of Costello syndrome should also be considered in individuals with RMS and physical findings suggestive of Costello syndrome...- Transmission of the rare HRAS mutation (c. 173C?>?T; p.T58I) further illustrates its attenuated phenotypeKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware
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. © 2012 Wiley Periodicals, Inc... - Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutationsKaren W Gripp
Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA
Genet Med 14:285-92. 2012.... - Somatic mosaicism for an HRAS mutation causes Costello syndromeKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
Am J Med Genet A 140:2163-9. 2006..This is the first reported CS patient mosaic for the common HRAS mutation, likely due to a somatic mutation occurring very early in fetal development... - 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... - Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataractsKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
Am J Med Genet A 146:468-73. 2008..We follow two previously reported patients with SD [Patients 3, 4 in Langer et al. 1996; Am J Med Genet 63: 20-27]. Since the original publication, additional findings were identified in these patients... - Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?Karen W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
Am J Med Genet A 146:683-90. 2008..Thus we add hypertrophic pyloric stenosis to the abnormalities seen with increased frequency in Costello syndrome... - Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromesKaren 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... - 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 abnormalitiesKaren 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... - Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathyKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware, USA
Am J Med Genet A 155:526-33. 2011..We propose diagnostic criteria for MMI/CMZ embryopathy, including the presence of at least one major characteristic finding... - Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13CKaren 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... - Molecular confirmation of HRAS p.G12S in siblings with Costello syndromeKaren 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... - Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing geneKaren 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... - HRAS mutation analysis in Costello syndrome: genotype and phenotype correlationKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
Am J Med Genet A 140:1-7. 2006..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete... - Elevated catecholamine metabolites in patients with Costello syndromeKaren W Gripp
Division of Medical Genetics, A I duPont Hospital for Children, PO Box 269, Wilmington, DE 19899, USA
Am J Med Genet A 128:48-51. 2004..Thus, it may be prudent not to use this assay as a screening test, and to take the frequently elevated results into consideration when interpreting diagnostic assays... - Tumor predisposition in Costello syndromeKaren W Gripp
Thomas Jefferson Medical College, Philadelphia, Pennsylvania, USA
Am J Med Genet C Semin Med Genet 137:72-7. 2005..Once a malignancy has been identified, treatment should follow standard protocols. Additional medical problems characteristic for CS, such as hypertrophic cardiomyopathy and arrhythmia, need to be considered and addressed appropriately... - Costello syndrome and related disordersEmilio Quezada
Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA
Curr Opin Pediatr 19:636-44. 2007..The discovery of gene mutations underlying these and other closely related disorders allows for molecular confirmation of a clinical diagnosis... - Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicismKatia Sol-Church
Nemours Biomedical Research, Nemours Children s Clinic, Wilmington, Delaware 19803, USA
Am J Med Genet A 149:315-21. 2009..Our observation underlines the importance of parental evaluation, and may have implications for genetic counseling and clinical practice... - Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007Katherine A Rauen
Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
Am J Med Genet A 146:1205-17. 2008 - Paternal bias in parental origin of HRAS mutations in Costello syndromeKatia Sol-Church
Department of Biomedical Research, Nemours Children s Clinic, Wilmington, Delaware, USA
Hum Mutat 27:736-41. 2006..0018), nor with exclusive paternal origin... - Adaptive skills, cognitive, and behavioral characteristics of Costello syndromeMarni E Axelrad
Division of Behavioral Health, A. I. duPont Hospital for Children, Wilmington, Delaware 19899, USA
Am J Med Genet A 128:396-400. 2004..Skills and behavior are compared to existing literature of children with various syndromes... - Living with Costello syndrome: quality of life issues in older individualsElizabeth 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... - Craniosynostosis: another feature of the 22q11.2 deletion syndromeDonna M McDonald-McGinn
Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Am J Med Genet A 136:358-62. 2005..Therefore, we suggest that craniosynostosis should be considered a manifestation of the 22q11.2 deletion and conversely that the 22q11.2 deletion should be considered in the differential diagnosis of craniosynostosis... - Subtelomeric deletions of chromosome 9q: a novel microdeletion syndromeDouglas R Stewart
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Am J Med Genet A 128:340-51. 2004..2 Mb interval containing 14 known transcripts. The majority of the proximal deletion breakpoints fall within a 400 kb interval between SNP markers C12020842 proximally and C80658 distally suggesting a common breakpoint in this interval... - Selective IgM deficiency and 22q11.2 deletion syndromeShiang Ju Kung
Division of Allergy and Clinical Immunology, Alfred I duPont Hospital for Children, Wilmington, Delaware 19899, USA
Ann Allergy Asthma Immunol 99:87-92. 2007..Humoral immunity is mostly unaffected, but selective IgA deficiency occurs in up to 13% of patients. Selective IgM deficiency associated with 22q11.2 deletion has been reported in 1 patient... - Further delineation of cardiac abnormalities in Costello syndromeAngela E Lin
Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts, USA
Am J Med Genet 111:115-29. 2002..Additional prospective evaluations, even in patients without apparent cardiac abnormalities, would be prudent, although data are insufficient to propose a specific schedule... - Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndromeMohamad M Al-Rahawan
Department of Pediatrics, University of Virginia Health System, Charlottesville, Virginia
Am J Med Genet A 143:1481-8. 2007..While CS is associated with increased cancer risk, only a single case of leukemia has been reported in a patient with CFC, making this the first case of a solid tumor reported in a patient with CFC... - The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disordersBronwyn Kerr
Regional Genetic Service and Medical Genetics Research Group, Central Manchester and Manchester Children's Hospitals University NHS Trust, Manchester, UK
Am J Med Genet A 146:1218-20. 2008 - Longitudinal assessment of cognitive characteristics in Costello syndromeMarni E Axelrad
Learning Support Center for Child Psychology, Department of Pediatrics, Texas Children s Hospital, Child Psychology, Allied Health Sciences, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 143:3185-93. 2007..However, half of the subjects obtained the lowest possible score on the EVT, demonstrating that this is not the ideal tool for use in this patient population... - Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea Armstrong
Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
Am J Med Genet A 132:265-72. 2005..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined... - Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathyAleksander Hinek
Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, Canada
Am J Med Genet A 133:1-12. 2005..We propose that an imbalance in sulfation of chondroitin sulfate molecules and subsequent accumulation of chondroitin-6-sulfate in cardiomyocytes contribute to the development of the hypertrophic cardiomyopathy of Costello syndrome... - Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis)John B Mulliken
Craniofacial Center, Division of Plastic Surgery, Children s Hospital Boston, Mass 02215, USA
Plast Reconstr Surg 113:1899-909. 2004..Infants with either an identified or a suspected mutation usually need bilateral asymmetric advancement of the bandeau and may be more likely to require frontal revision in childhood... - Clarification of previously reported Costello syndrome patientsAngela E Lin
Am J Med Genet A 146:940-3. 2008 - Genetics of colorectal cancerKaren W Gripp
N Engl J Med 348:2361-2. 2003 - Human chromosome 7: DNA sequence and biologyStephen W Scherer
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
Science 300:767-72. 2003..This approach enabled the discovery of candidate genes for developmental diseases including autism... - Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected childrenStephen W Scherer
Genetics and Genomic Biology Program, Sick Kids Hospital, Toronto, ON, M5G 1X8, Canada
Hum Genet 117:383-8. 2005....