High Incidence of Progressive Postnatal Cerebellar Enlargement in Costello Syndrome: Brain Overgrowth Associated with HRAS Mutations as the Likely Cause of Structural Brain and Spi...

Por Gripp, Karen W., Hopkins, Elisabeth, Doyle, Daniel, Dobyns, William B.
Publicado no Am J Med Genet A (2010)

Uniparental Disomy is Associated with Embryonal Rhabdomyosarcoma in Costello Syndrome and Nonsyndromic Patients: From Core-Side to Bed-Side and Back Again, Impact of Core Laborator...

Por Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Gripp, Karen W., Sol-Church, Katia
Publicado em 2013

Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein

Por Hinek, Aleksander, Smith, Adam C., Cutiongco, Eva Maria, Callahan, John W., Gripp, Karen W., Weksberg, Rosanna
Publicado em 2000

Long Term Survival in TARP Syndrome and Confirmation of RBM10 as the Disease Causing Gene

Por Gripp, Karen W., Hopkins, Elizabeth, Johnston, Jennifer J., Krause, Caitlin, Dobyns, William B., Biesecker, Leslie G.
Publicado em 2011

Transmission of the Rare HRAS Mutation (c. 173C > T; p.T58I) Further Illustrates Its Attenuated Phenotype

Por Gripp, Karen W., Hopkins, Elizabeth, Serrano, Alvaro, Leonard, Norma J., Stabley, Deborah L., Sol-Church, Katia
Publicado em 2012

Longitudinal Course of Cognitive, Adaptive and Behavioral Characteristics in Costello Syndrome

Por Axelrad, Marni E., Schwartz, David D., Fehlis, Julie, Hopkins, Elizabeth, Stabley, Deborah L., Church, Katia Sol, Gripp, Karen W.
Publicado em 2009

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

Por Gripp, Karen W., Bifeld, Eugenia, Stabley, Deborah L., Hopkins, Elizabeth, Meien, Stefanie, Vinette, Kathy, Sol-Church, Katia, Rosenberger, Georg
Publicado em 2012

Age-Related Differences in Prevalence of Autism Spectrum Disorder Symptoms in Children and Adolescents with Costello Syndrome

Por Schwartz, David, Katzenstein, Jennifer M., Highley, Eric J., Stabley, Deborah L., Sol-Church, Katia, Gripp, Karen W., Axelrad, Marni
Publicado no Am J Med Genet A (2017)

Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children

Por Scherer, Stephen W., Gripp, Karen W., Lucena, Jaume, Nicholson, Linda, Bonnefont, Jean-Paul, Pérez-Jurado, Luis A., Osborne, Lucy R.
Publicado em 2005

Molecular Confirmation of HRAS p.G12S in Siblings with Costello Syndrome

Por Gripp, Karen W., Stabley, Deborah L., Geller, Peter L., Hopkins, Elizabeth, Stevenson, David A., Carey, John C., Sol-Church, Katia
Publicado em 2011

Verbal Memory Functioning in Adolescents and Young Adults with Costello Syndrome: Evidence for Relative Preservation in Recognition Memory

Por Schwartz, David D., Katzenstein, Jennifer M., Hopkins, Elisabeth, Stabley, Deborah L., Sol-Church, Katia, Gripp, Karen W., Axelrad, Marni E.
Publicado em 2013

Phenotypic Spectrum of Costello Syndrome Individuals Harboring the Rare HRAS Mutation p.Gly13Asp

Por Bertola, Débora, Buscarilli, Michelle, Stabley, Deborah L., Baker, Laura, Doyle, Daniel, Bartholomew, Dennis W., Sol-Church, Katia, Gripp, Karen W.
Publicado no Am J Med Genet A (2017)

Male to Male Transmission of Costello Syndrome: G12S HRAS Germline Mutation Inherited from a Father with Somatic Mosaicism

Por Sol-Church, Katia, Stabley, Deborah L., Demmer, Laurie A, Agbulos, Abigail, Lin, Angela E., Smoot, Leslie, Nicholson, Linda, Gripp, Karen W.
Publicado em 2009

Paternal Uniparental Disomy 11p15.5 in the Pancreatic Nodule of an Infant With Costello Syndrome: Shared Mechanism for Hyperinsulinemic Hypoglycemia in Neonates With Costello and B...

Por Gripp, Karen W., Robbins, Katherine M., Sheffield, Brandon S., Lee, Anna F., Patel, Millan S., Yip, Stephen, Doyle, Daniel, Stabley, Deborah, Sol-Church, Katia
Publicado no Am J Med Genet A (2015)

Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma

Por Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Sahraoui, Rebecca, Sadreameli, Alexa, Conard, Katrina, Baker, Laura, Gripp, Karen W., Sol-Church, Katia
Publicado no Am J Med Genet A (2016)

Diamond-Blackfan Anemia with Mandibulofacial Dystostosis is Heterogeneous, Including the Novel DBA Genes TSR2 and RPS28

Por Gripp, Karen W., Curry, Cynthia, Olney, Ann Haskins, Sandoval, Claudio, Fisher, Jamie, Chong, Jessica Xiao-Ling, Pilchman, Lisa, Sahraoui, Rebecca, Stabley, Deborah L., Sol-Church, Katia
Publicado em 2014

Early-Lethal Costello syndrome due to rare HRAS tandem base substitution (c.35_36GC>AA; p.G12E) associated pulmonary vascular disease

Por Nicole Weaver, K., Wang, Dehua, Cnota, James, Gardner, Nicholas, Stabley, Deborah, Sol-Church, Katia, Gripp, Karen W., Witte, David P., Bove, Kevin E., Hopkin, Robert J.
Publicado no Pediatr Dev Pathol (2014)

A Novel Rasopathy Caused by Recurrent De Novo Missense Mutations In PPP1CB Closely Resembles Noonan Syndrome with Loose Anagen Hair

Por Gripp, Karen W., Aldinger, Kimberly A., Bennett, James T., Baker, Laura, Tusi, Jessica, Powell-Hamilton, Nina, Stabley, Deborah, Sol-Church, Katia, Timms, Andrew E., Dobyns, William B.
Publicado no Am J Med Genet A (2016)

Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient

Por Cartledge, Donna M., Robbins, Katherine M., Drake, Katherine M., Sternberg, Rachel, Stabley, Deborah L., Gripp, Karen W., Kolb, E. Anders, Sol-Church, Katia, Napper, Andrew D.
Publicado no Front Oncol (2017)

Expanding the SHOC2 Mutation Associated Phenotype of Noonan Syndrome with Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis

Por Gripp, Karen W., Zand, Dina J., Demmer, Laurie, Anderson, Carol E., Dobyns, William B., Zackai, Elaine H., Denenberg, Elizabeth, Jenny, Kim, Stabley, Deborah L., Sol-Church, Katia
Publicado em 2013