Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Erica Tworog-Dube"'
Autor:
Quang M. Trinh, Christina K. Yung, Raju Kucherlapati, Lincoln Stein, Hui Wen Yu, Minerva Fernandez, Donna M. Muzny, Tao Yuan, Richard A. Gibbs, Amy E. Roberts, Jiani C. Yin, Vanya Peltekova, Benjamin G. Neel, Erica Tworog-Dube, Jeffrey G. Reid, Margaret Morgan, Peng Chieh Chen, John Douglas Mcpherson
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, vol 111, iss 31
Noonan syndrome (NS) is a relatively common genetic disorder, characterized by typical facies, short stature, developmental delay, and cardiac abnormalities. Known causative genes account for 70-80% of clinically diagnosed NS patients, but the geneti
Publikováno v:
Am J Med Genet A
Genetic syndromes resulting from molecular alterations of the RAS-MAPK signaling cascade have become the focus of heightened interest among behavioral scientists due to discoveries that proteins within this pathway play an important role in memory fo
Autor:
Zora Kikinis, Erica Tworog-Dube, Marek Kubicki, Ron Kikinis, T. Ballinger, Sylvain Bouix, Christine T. Finn, Raju Kucherlapati, Takeshi Asami, Martha E. Shenton
Publikováno v:
Schizophrenia Research. 141:35-39
Individuals with 22q11.2 deletion syndrome (22q11.2DS) evince a 30% incidence of schizophrenia. We compared the white matter (WM) of 22q11.2DS patients without schizophrenia to a group of matched healthy controls using Tract-Based-Spatial-Statistics
Autor:
Nancy J. Mendelsohn, Mark S. Seidenberg, Mary Ella M Pierpont, Elizabeth I. Pierpont, Amy E. Roberts, Katherine A. Rauen, Erica Tworog-Dube
Publikováno v:
American Journal of Medical Genetics Part A. :591-600
Cardiofaciocutaneous syndrome (CFC) and Noonan syndrome (NS) are two phenotypically overlapping genetic disorders whose underlying molecular etiologies affect a common signaling pathway. Mutations in the BRAF, MEK1, and MEK2 genes cause most cases of
Autor:
Elizabeth I. Pierpont, Erica Tworog-Dube, Mark S. Seidenberg, Mary Ella M Pierpont, Nancy J. Mendelsohn, Amy E. Roberts
Publikováno v:
Genes, Brain and Behavior. 8:275-282
Noonan syndrome (NS) is an autosomal dominant genetic disorder associated with highly variable features, including heart disease, short stature, minor facial anomalies and learning disabilities. Recent gene discoveries have laid the groundwork for ex
Publikováno v:
Developmental medicine and child neurology. 57(4)
Aim Emerging research indicates that gene mutations within the RAS-MAPK signaling cascade, which cause Noonan syndrome and related disorders, affect neurophysiologic activity in brain regions underlying attention and executive functions. The present
Autor:
Raju Kucherlapati, Terence Prendiville, Amy E. Roberts, Erica Tworog-Dube, Lynne Patkin, Kimberlee Gauvreau, Ronald V. Lacro
Publikováno v:
Archives of disease in childhood. 99(7)
Noonan syndrome (NS), a relatively common autosomal dominant disorder with an incidence of 1 in 1000 to 2500 live births, is the most common syndromic cause of congenital heart disease after Trisomy 21.To comprehensively define the spectrum of cardia
Autor:
Raju Kucherlapati, Christine T. Finn, Nikos Makris, Michael J. Coleman, Diandra Lucia, Erica Tworog-Dube, Ron Kikinis, Marek Kubicki, Martha E. Shenton, Sylvain Bouix, Zora Kikinis
Publikováno v:
Brain imaging and behavior. 7(3)
Patients with 22q11.2 deletion syndrome (22q11.2DS) represent a population at high risk for developing schizophrenia, as well as learning disabilities. Deficits in visuo-spatial memory are thought to underlie some of the cognitive disabilities. Neuro
Publikováno v:
American journal of medical genetics. Part A. (12)
Noonan syndrome (NS) is a heterogeneous developmental disorder caused by missense mutations in genes involved in the Ras/MAPK signaling pathway, a major mediator of early and late developmental processes. The diagnosis of NS is made on clinical groun