Karen W Gripp Selected Research

Costello Syndrome

1/2018	Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
5/2017	Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
5/2017	Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.
4/2017	A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
1/2017	Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.
3/2012	Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
12/2009	Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome.
3/2008	Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
12/2007	Costello syndrome and related disorders.
7/2007	Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.

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Karen W Gripp Research Topics

Disease

13	Costello Syndrome 01/2018 - 07/2004
8	Neoplasms (Cancer) 01/2020 - 07/2004
5	Intellectual Disability (Idiocy) 01/2021 - 11/2019
4	Megalencephaly 01/2020 - 06/2012
3	Microcephaly 01/2021 - 06/2011
3	Neurodevelopmental Disorders 01/2021 - 01/2020
3	Neuroblastoma 08/2005 - 02/2002
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 01/2020
2	Epilepsy (Aura) 01/2021 - 01/2019
2	Channelopathies 01/2021 - 01/2019
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2021 - 12/2015
2	Fibrosarcoma 11/2020 - 05/2015
2	Muscle Hypotonia (Hypotonia) 01/2020 - 10/2013
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 04/2017 - 02/2005
2	Carcinoma (Carcinomatosis) 01/2017 - 02/2002
2	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2017 - 12/2007
2	Hydrocephalus (Hydrocephaly) 05/2014 - 05/2010
2	Polyhydramnios 10/2013 - 07/2007
2	Cardiofaciocutaneous syndrome 12/2007 - 07/2007
2	DiGeorge Syndrome (Syndrome, DiGeorge) 07/2007 - 05/2004
2	Hematuria 08/2005 - 02/2002
1	Diabetic Nephropathies (Diabetic Nephropathy) 12/2021
1	Facies 01/2021
1	Precursor B-Cell Lymphoblastic Leukemia-Lymphoma (Leukemia, Pre B Cell) 01/2021
1	Autistic Disorder (Autism) 01/2021
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021
1	Infantile Epileptic-Dyskinetic Encephalopathy 11/2020
1	Nerve Sheath Neoplasms (Nerve Sheath Neoplasm) 01/2020
1	Plexiform Neurofibroma 01/2020
1	Myotonic Dystrophy (Dystrophia Myotonica) 01/2020
1	Apraxias (Dyspraxia) 01/2020
1	Hypertrichosis 01/2019
1	Gingival Overgrowth 01/2019
1	Mitochondrial Diseases (Mitochondrial Disease) 12/2018
1	Cardiac Arrhythmias (Arrythmia) 01/2018
1	Wilms Tumor (Wilm's Tumor) 01/2018
1	Supraventricular Tachycardia 01/2018
1	Diamond-Blackfan Anemia (Anemia, Diamond Blackfan) 01/2018
1	Autism Spectrum Disorder 05/2017
1	Failure to Thrive 04/2017
1	Embryonal Rhabdomyosarcoma 01/2017
1	Cardiomegaly (Heart Hypertrophy) 01/2017
1	Glycogen Storage Disease Type VI (Glycogenosis Type VI) 01/2017
1	Klippel-Trenaunay-Weber Syndrome (Syndrome, Klippel-Trenaunay-Weber) 10/2016
1	Disorders of Sex Development (Intersexuality) 07/2016
1	Congenital Hyperinsulinism 03/2016
1	Vascular Diseases (Vascular Disease) 11/2014
1	Polymicrogyria 05/2014
1	Polydactyly (Polydactylism) 05/2014
1	Cerebral Palsy (Spastic Diplegia) 12/2013
1	Scoliosis 12/2013

Drug/Important Bio-Agent (IBA)

7	Mitogen-Activated Protein KinasesIBA 01/2022 - 12/2007
5	Amino Acids FDA Link 01/2021 - 03/2008
5	Proteins (Proteins, Gene)FDA Link 01/2020 - 12/2007
4	Transcription Factors (Transcription Factor)IBA 01/2021 - 05/2015
3	Codon (Codons)IBA 04/2017 - 08/2006
3	CatecholaminesIBA 08/2005 - 02/2002
2	PotassiumIBA 01/2021 - 01/2019
2	Phosphotransferases (Kinase)IBA 01/2020 - 07/2007
2	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 01/2020 - 07/2007
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 11/2019 - 12/2015
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 03/2008 - 08/2006
2	Biological ProductsIBA 12/2007 - 07/2007
2	Immunoglobulin M (IgM)IBA 07/2007 - 05/2004
1	Apolipoprotein L1IBA 12/2021
1	ChromatinIBA 01/2021
1	Potassium Channels (Potassium Channel)IBA 01/2021
1	Homeodomain Proteins (Proteins, Homeobox)IBA 01/2021
1	ral Guanine Nucleotide Exchange FactorIBA 11/2020
1	Guanine NucleotidesIBA 11/2020
1	phospholipase C1IBA 11/2020
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 11/2020
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 01/2020
1	Mi-2 Nucleosome Remodeling and Deacetylase ComplexIBA 01/2020
1	AZD 6244IBA 01/2020
1	IronIBA 12/2018
1	Oxidoreductases (Dehydrogenase)IBA 12/2018
1	SulfurIBA 12/2018
1	Ribosomal Proteins (Ribosomal Protein)IBA 01/2018
1	Cell-Free Nucleic AcidsIBA 01/2018
1	Amiodarone (Amiodarona)FDA LinkGeneric 01/2018
1	Anti-Arrhythmia AgentsIBA 01/2018
1	Digoxin (Digitek)FDA LinkGeneric 01/2018
1	Flecainide (Tambocor)FDA LinkGeneric 01/2018
1	Propranolol (Inderal)FDA LinkGeneric 01/2018
1	Biomarkers (Surrogate Marker)IBA 01/2018
1	Mutant Proteins (Protein, Mutant)IBA 01/2018
1	zardaverineIBA 01/2017
1	Formaldehyde (Formol)FDA Link 12/2016
1	ParaffinIBA 12/2016
1	Cyclin-Dependent Kinase Inhibitor p57IBA 03/2016
1	DNA (Deoxyribonucleic Acid)IBA 03/2016
1	UbiquitinIBA 12/2015
1	ElastinIBA 11/2014
1	Cyclin D2IBA 05/2014
1	Phosphatidylinositol 3-Kinase (1 Phosphatidylinositol 3 Kinase)IBA 05/2014
1	Cholinergic ReceptorsIBA 12/2013
1	Nicotinic Receptors (Nicotinic Acetylcholine Receptor)IBA 12/2013

Therapy/Procedure

4	Therapeutics 01/2020 - 07/2007
1	Art Therapy 01/2020