Author Search Results

1

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... by Gripp, Karen W., Hopkins, Elisabeth, Doyle, Daniel, Dobyns, William B.

Published 2010

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The Genetic Testing Stewardship Program:: A Bridge to Precision Diagnostics for the Non-genetics Medical Provider by Thomas, Morgan, Amlie-Wolf, Louise, Baker, Laura, Gripp, Karen W.

Published 2021

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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... by Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Gripp, Karen W., Sol-Church, Katia

Published 2013

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Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein by Hinek, Aleksander, Smith, Adam C., Cutiongco, Eva Maria, Callahan, John W., Gripp, Karen W., Weksberg, Rosanna

Published 2000

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Long Term Survival in TARP Syndrome and Confirmation of RBM10 as the Disease Causing Gene by Gripp, Karen W., Hopkins, Elizabeth, Johnston, Jennifer J., Krause, Caitlin, Dobyns, William B., Biesecker, Leslie G.

Published 2011

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Transmission of the Rare HRAS Mutation (c. 173C > T; p.T58I) Further Illustrates Its Attenuated Phenotype by Gripp, Karen W., Hopkins, Elizabeth, Serrano, Alvaro, Leonard, Norma J., Stabley, Deborah L., Sol-Church, Katia

Published 2012

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Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic by Kirwin, Susan M., Robbins, Katherine M., Vinette, Kathleen M.B., Hirata, Lee, Gripp, Karen W., Funanage, Vicky L.

Published 2021

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Longitudinal Course of Cognitive, Adaptive and Behavioral Characteristics in Costello Syndrome by Axelrad, Marni E., Schwartz, David D., Fehlis, Julie, Hopkins, Elizabeth, Stabley, Deborah L., Church, Katia Sol, Gripp, Karen W.

Published 2009

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

Published 2012

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Age-Related Differences in Prevalence of Autism Spectrum Disorder Symptoms in Children and Adolescents with Costello Syndrome by Schwartz, David, Katzenstein, Jennifer M., Highley, Eric J., Stabley, Deborah L., Sol-Church, Katia, Gripp, Karen W., Axelrad, Marni

Published 2017

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Neuromotor Synapses in Escobar Syndrome by Robinson, Karyn G., Viereck, Matthew J., Margiotta, Megan V., Gripp, Karen W., Abdul-Rahman, Omar A., Akins, Robert E.

Published 2013

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12

Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children by Scherer, Stephen W., Gripp, Karen W., Lucena, Jaume, Nicholson, Linda, Bonnefont, Jean-Paul, Pérez-Jurado, Luis A., Osborne, Lucy R.

Published 2005

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13

Molecular Confirmation of HRAS p.G12S in Siblings with Costello Syndrome by Gripp, Karen W., Stabley, Deborah L., Geller, Peter L., Hopkins, Elizabeth, Stevenson, David A., Carey, John C., Sol-Church, Katia

Published 2011

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14

Verbal Memory Functioning in Adolescents and Young Adults with Costello Syndrome: Evidence for Relative Preservation in Recognition Memory by Schwartz, David D., Katzenstein, Jennifer M., Hopkins, Elisabeth, Stabley, Deborah L., Sol-Church, Katia, Gripp, Karen W., Axelrad, Marni E.

Published 2013

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Phenotypic Spectrum of Costello Syndrome Individuals Harboring the Rare HRAS Mutation p.Gly13Asp by Bertola, Débora, Buscarilli, Michelle, Stabley, Deborah L., Baker, Laura, Doyle, Daniel, Bartholomew, Dennis W., Sol-Church, Katia, Gripp, Karen W.

Published 2017

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Expanding the Phenotype of SPONASTRIME Dysplasia to Include Short Dental Roots, Hypogammaglobulinemia, and Cataracts by Gripp, Karen W., Johnson, Caitlyn, Scott, Charles I., Nicholson, Linda, Bober, Michael, Butler, Merlin G., Shaw, Linda, Gorlin, Robert J.

Published 2008

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17

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects by Gripp, Karen W., Baker, Laura, Robbins, Katherine M., Stabley, Deborah L., Bellus, Gary A., Kolbe, Verena, Nauth, Theresa, Rosenberger, Georg

Published 2020

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Male to Male Transmission of Costello Syndrome: G12S HRAS Germline Mutation Inherited from a Father with Somatic Mosaicism by Sol-Church, Katia, Stabley, Deborah L., Demmer, Laurie A, Agbulos, Abigail, Lin, Angela E., Smoot, Leslie, Nicholson, Linda, Gripp, Karen W.

Published 2009

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19

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... by Gripp, Karen W., Robbins, Katherine M., Sheffield, Brandon S., Lee, Anna F., Patel, Millan S., Yip, Stephen, Doyle, Daniel, Stabley, Deborah, Sol-Church, Katia

Published 2015

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20

Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma by Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Sahraoui, Rebecca, Sadreameli, Alexa, Conard, Katrina, Baker, Laura, Gripp, Karen W., Sol-Church, Katia

Published 2016

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Search Results - Gripp, Karen W.

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... by Gripp, Karen W., Hopkins, Elisabeth, Doyle, Daniel, Dobyns, William B.

The Genetic Testing Stewardship Program:: A Bridge to Precision Diagnostics for the Non-genetics Medical Provider by Thomas, Morgan, Amlie-Wolf, Louise, Baker, Laura, Gripp, Karen W.

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... by Robbins, Katherine M., Stabley, Deborah L., Holbrook, Jennifer, Gripp, Karen W., Sol-Church, Katia

Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein by Hinek, Aleksander, Smith, Adam C., Cutiongco, Eva Maria, Callahan, John W., Gripp, Karen W., Weksberg, Rosanna

Long Term Survival in TARP Syndrome and Confirmation of RBM10 as the Disease Causing Gene by Gripp, Karen W., Hopkins, Elizabeth, Johnston, Jennifer J., Krause, Caitlin, Dobyns, William B., Biesecker, Leslie G.

Transmission of the Rare HRAS Mutation (c. 173C > T; p.T58I) Further Illustrates Its Attenuated Phenotype by Gripp, Karen W., Hopkins, Elizabeth, Serrano, Alvaro, Leonard, Norma J., Stabley, Deborah L., Sol-Church, Katia

Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic by Kirwin, Susan M., Robbins, Katherine M., Vinette, Kathleen M.B., Hirata, Lee, Gripp, Karen W., Funanage, Vicky L.

Longitudinal Course of Cognitive, Adaptive and Behavioral Characteristics in Costello Syndrome by Axelrad, Marni E., Schwartz, David D., Fehlis, Julie, Hopkins, Elizabeth, Stabley, Deborah L., Church, Katia Sol, Gripp, Karen W.

Age-Related Differences in Prevalence of Autism Spectrum Disorder Symptoms in Children and Adolescents with Costello Syndrome by Schwartz, David, Katzenstein, Jennifer M., Highley, Eric J., Stabley, Deborah L., Sol-Church, Katia, Gripp, Karen W., Axelrad, Marni

Neuromotor Synapses in Escobar Syndrome by Robinson, Karyn G., Viereck, Matthew J., Margiotta, Megan V., Gripp, Karen W., Abdul-Rahman, Omar A., Akins, Robert E.

Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children by Scherer, Stephen W., Gripp, Karen W., Lucena, Jaume, Nicholson, Linda, Bonnefont, Jean-Paul, Pérez-Jurado, Luis A., Osborne, Lucy R.

Molecular Confirmation of HRAS p.G12S in Siblings with Costello Syndrome by Gripp, Karen W., Stabley, Deborah L., Geller, Peter L., Hopkins, Elizabeth, Stevenson, David A., Carey, John C., Sol-Church, Katia

Verbal Memory Functioning in Adolescents and Young Adults with Costello Syndrome: Evidence for Relative Preservation in Recognition Memory by Schwartz, David D., Katzenstein, Jennifer M., Hopkins, Elisabeth, Stabley, Deborah L., Sol-Church, Katia, Gripp, Karen W., Axelrad, Marni E.

Phenotypic Spectrum of Costello Syndrome Individuals Harboring the Rare HRAS Mutation p.Gly13Asp by Bertola, Débora, Buscarilli, Michelle, Stabley, Deborah L., Baker, Laura, Doyle, Daniel, Bartholomew, Dennis W., Sol-Church, Katia, Gripp, Karen W.

Expanding the Phenotype of SPONASTRIME Dysplasia to Include Short Dental Roots, Hypogammaglobulinemia, and Cataracts by Gripp, Karen W., Johnson, Caitlyn, Scott, Charles I., Nicholson, Linda, Bober, Michael, Butler, Merlin G., Shaw, Linda, Gorlin, Robert J.

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects by Gripp, Karen W., Baker, Laura, Robbins, Katherine M., Stabley, Deborah L., Bellus, Gary A., Kolbe, Verena, Nauth, Theresa, Rosenberger, Georg

Male to Male Transmission of Costello Syndrome: G12S HRAS Germline Mutation Inherited from a Father with Somatic Mosaicism by Sol-Church, Katia, Stabley, Deborah L., Demmer, Laurie A, Agbulos, Abigail, Lin, Angela E., Smoot, Leslie, Nicholson, Linda, Gripp, Karen W.

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