Christina A Gurnett Selected Research

distal type 1 Arthrogryposis multiplex congenita

6/2011	Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
4/2010	Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

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Christina A Gurnett Research Topics

Disease

12	Clubfoot (Talipes Equinovarus) 01/2022 - 09/2007
6	Scoliosis 04/2020 - 09/2010
6	Epilepsy (Aura) 01/2018 - 03/2007
4	Arthrogryposis 01/2022 - 05/2009
4	Flatfoot (Flat Feet) 06/2017 - 11/2005
2	Neoplasms (Cancer) 12/2021 - 08/2009
2	Contracture 11/2020 - 06/2011
2	Intellectual Disability (Idiocy) 11/2018 - 04/2008
2	Autistic Disorder (Autism) 01/2018 - 12/2011
2	Marfan Syndrome (Marfan's Syndrome) 09/2015 - 10/2014
2	Seizures (Absence Seizure) 03/2014 - 11/2003
2	distal type 1 Arthrogryposis multiplex congenita 06/2011 - 04/2010
1	Hereditary alpha-tryptasemia syndrome 04/2022
1	COVID-19 01/2022
1	Cap Myopathy 01/2022
1	Brain Diseases (Brain Disorder) 01/2022
1	Partial Epilepsies (Epilepsy, Partial) 01/2022
1	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2022
1	Menorrhagia 01/2022
1	Megalencephaly 01/2021
1	Syringomyelia (Morvan's Disease) 04/2020
1	Osteoporosis 01/2020
1	Spinal Curvatures (Spinal Curvature) 10/2018
1	Nervous System Diseases (Neurological Disorders) 01/2018
1	Cognitive Dysfunction 01/2018
1	Type 1 Episodic Ataxia 01/2018
1	Aortic Aneurysm (Aneurysm, Aortic) 09/2015
1	Loeys-Dietz Syndrome 09/2015
1	Infantile Spasms (West Syndrome) 04/2015
1	3 Early Infantile Epileptic Encephalopathy 04/2015
1	Infantile Epileptic-Dyskinetic Encephalopathy 04/2015
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2015
1	Aicardi Syndrome 03/2014
1	Muscular Diseases (Myopathy) 05/2012
1	familial horizontal gaze palsy with progressive scoliosis 04/2011
1	Rare Diseases (Rare Disease) 04/2011
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 04/2010
1	Sarcoma (Soft Tissue Sarcoma) 08/2009
1	Freeman-Sheldon syndrome 05/2009
1	Foot Deformities (Foot Deformity) 05/2009
1	Distal arthrogryposis type 2B 05/2009
1	Larsen Syndrome 06/2008
1	Knee Dislocation 06/2008
1	Complex Partial Epilepsy (Psychomotor Epilepsy) 04/2008
1	Generalized Epilepsy 03/2007
1	Epileptic Syndromes 03/2007

Drug/Important Bio-Agent (IBA)

8	Proteins (Proteins, Gene)FDA Link 04/2015 - 03/2007
5	DNA (Deoxyribonucleic Acid)IBA 12/2021 - 09/2010
3	Myosins (Myosin)IBA 11/2020 - 04/2010
3	Biological ProductsIBA 06/2017 - 12/2009
3	Transcription Factors (Transcription Factor)IBA 04/2013 - 07/2010
2	FilaminsIBA 01/2022 - 06/2008
2	TropomyosinIBA 01/2022 - 05/2009
2	Voltage-Gated Potassium Channels (Voltage-Gated Potassium Channel)IBA 01/2018 - 03/2011
2	Sodium Channels (Sodium Channel)IBA 02/2014 - 03/2011
2	EnzymesIBA 07/2011 - 09/2010
2	Ion Channels (Ion Channel)IBA 03/2011 - 03/2007
2	Growth Differentiation Factor 5IBA 05/2009 - 11/2005
1	Tryptases (Tryptase)IBA 04/2022
1	Carbamazepine (Tegretol)FDA LinkGeneric 01/2022
1	Codon (Codons)IBA 01/2022
1	Microfilament Proteins (Actin Binding Proteins)IBA 01/2022
1	von Willebrand FactorIBA 01/2022
1	P-2 (P 2)IBA 01/2021
1	Alendronate (Alendronate Sodium)FDA LinkGeneric 01/2020
1	KinesinsIBA 11/2018
1	ManganeseIBA 10/2018
1	prolylvalineIBA 01/2018
1	ChromatinIBA 01/2018
1	Biomarkers (Surrogate Marker)IBA 06/2017
1	Transforming Growth Factor-beta Type I ReceptorIBA 09/2015
1	Nonsense Codon (Nonsense Mutation)IBA 09/2015
1	Transforming Growth Factor-beta Type II ReceptorIBA 09/2015
1	Phosphotransferases (Kinase)IBA 04/2015
1	SaltsIBA 04/2015
1	Transforming Growth Factor beta (TGF-beta)IBA 10/2014
1	MorpholinosIBA 12/2013
1	Contractile ProteinsIBA 09/2011
1	Protein-Lysine 6-Oxidase (Lysyl Oxidase)IBA 07/2011
1	Potassium Channels (Potassium Channel)IBA 03/2011
1	PotassiumIBA 03/2011
1	Melatonin Receptors (Melatonin Receptor)IBA 09/2010
1	Serotonin (5 Hydroxytryptamine)IBA 09/2010
1	MelatoninIBA 09/2010
1	Hormones (Hormone)IBA 09/2010
1	OligonucleotidesIBA 05/2010
1	Carrier Proteins (Binding Protein)IBA 04/2010
1	Myosin Heavy Chains (Myosin Heavy Chain)IBA 05/2009
1	Troponin T (Troponin T1)IBA 05/2009
1	Sodium Bicarbonate (Baking Soda)FDA LinkGeneric 04/2008
1	3' Untranslated Regions (3' UTR)IBA 09/2007
1	Anticonvulsants (Antiepileptic Drugs)IBA 03/2007

Therapy/Procedure

2	Braces 06/2017 - 03/2017
2	Therapeutics 06/2017 - 03/2014
1	Hand Hygiene 01/2022
1	Decompression 04/2020
1	Precision Medicine 06/2017
1	Genomic Medicine 01/2015
1	Vagus Nerve Stimulation 03/2014
1	Pinealectomy 09/2010