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Robert M W Hofstra Selected Research

Goldberg-Shprintzen megacolon syndrome

11/2020Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
12/2010Mutations in SCG10 are not involved in Hirschsprung disease.

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Robert M W Hofstra Research Topics

Disease

20Neoplasms (Cancer)
11/2018 - 08/2003
14Colorectal Neoplasms (Colorectal Cancer)
01/2021 - 01/2002
8Hereditary Nonpolyposis Colorectal Neoplasms (Hereditary Nonpolyposis Colorectal Cancer)
11/2018 - 11/2007
6Hirschsprung Disease (Hirschsprung's Disease)
01/2016 - 02/2002
5Cardiomyopathies (Cardiomyopathy)
01/2019 - 06/2007
4Epidermolysis Bullosa Dystrophica (Dystrophic Epidermolysis Bullosa)
02/2012 - 10/2009
3Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)
12/2016 - 01/2013
3Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
02/2016 - 12/2007
3Microsatellite Instability
04/2013 - 06/2005
3Renal Cell Carcinoma (Grawitz Tumor)
02/2013 - 06/2010
3Colonic Neoplasms (Colon Cancer)
01/2013 - 02/2003
3Multiple Endocrine Neoplasia Type 2a (MEN 2)
06/2011 - 08/2006
3Breast Neoplasms (Breast Cancer)
07/2006 - 02/2005
2Adenoma (Adenomas)
01/2021 - 11/2018
2Goldberg-Shprintzen megacolon syndrome
11/2020 - 12/2010
2Arrhythmogenic Right Ventricular Dysplasia (Arrhythmogenic Right Ventricular Cardiomyopathy)
11/2012 - 09/2009
2Blister (Bulla)
02/2012 - 10/2009
2Parkinson Disease (Parkinson's Disease)
08/2010 - 03/2008
2Adducted Thumbs) Syndrome Shuffling Gait Aphasia MASA (Mental Retardation
03/2010 - 01/2010
2Hydrocephalus (Hydrocephaly)
04/2009 - 02/2002
2Ovarian Neoplasms (Ovarian Cancer)
02/2009 - 09/2006
2Fibrosis (Cirrhosis)
06/2007 - 12/2004
2Familial medullary thyroid carcinoma
08/2006 - 03/2005
2Carcinoma (Carcinomatosis)
11/2005 - 09/2003
2Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
01/2004 - 04/2003
1Carcinogenesis
01/2021
1Cardiovascular Diseases (Cardiovascular Disease)
01/2018
1Epidermolysis Bullosa
01/2018
1Hydronephrosis
01/2017
1Inborn Genetic Diseases (Disease, Hereditary)
01/2016
1Periventricular Nodular Heterotopia
09/2013
1Pulmonary Arterial Hypertension
08/2013
1Intellectual Disability (Idiocy)
08/2013
1Stomach Neoplasms (Stomach Cancer)
04/2013
1Smith-Lemli-Opitz Syndrome
01/2013
1Obesity
01/2013
1Metabolic Syndrome (Dysmetabolic Syndrome X)
01/2013
1Thyroid Neoplasms (Thyroid Cancer)
12/2012
1Cardiac Sudden Death (Sudden Cardiac Arrest)
11/2012
1Papillary Thyroid Cancer
06/2011
1Multiple Endocrine Neoplasia Type 2b (MEN 3)
06/2011
1Embryonal Carcinoma
09/2010
1Alzheimer Disease (Alzheimer's Disease)
08/2010
1Neurodegenerative Diseases (Neurodegenerative Disease)
08/2010

Drug/Important Bio-Agent (IBA)

16Proteins (Proteins, Gene)FDA Link
01/2019 - 02/2003
10DNA (Deoxyribonucleic Acid)IBA
11/2018 - 03/2002
5Calcibiotic Root Canal SealerIBA
04/2012 - 01/2002
4Phosphotransferases (Kinase)IBA
02/2016 - 06/2005
4Transcription Factors (Transcription Factor)IBA
02/2016 - 12/2004
4Collagen Type VIIIBA
02/2012 - 10/2009
4Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA
03/2010 - 02/2002
2Biomarkers (Surrogate Marker)IBA
01/2021 - 10/2018
2OligonucleotidesIBA
04/2016 - 02/2009
2Glial Cell Line-Derived Neurotrophic Factor (GDNF)IBA
01/2016 - 03/2005
2Nonsense Codon (Nonsense Mutation)IBA
02/2012 - 07/2005
2alpha-SynucleinIBA
08/2010 - 03/2008
2Pharmaceutical PreparationsIBA
03/2008 - 10/2007
2Lamin Type A (Lamin A)IBA
12/2007 - 06/2007
2DystrophinIBA
01/2004 - 04/2003
1fibulin 2IBA
01/2021
1nidogen (entactin)IBA
01/2021
1KinesinsIBA
11/2020
1Carrier Proteins (Binding Protein)IBA
11/2020
1omega-Chloroacetophenone (Mace)IBA
01/2018
1Coxsackie and Adenovirus Receptor-Like Membrane ProteinIBA
12/2016
1Aspirin (Acetylsalicylic Acid)FDA LinkGeneric
02/2016
1LigandsIBA
01/2016
1Semaphorins (Semaphorin)IBA
04/2015
1Estrogen ReceptorsIBA
12/2014
1FilaminsIBA
09/2013
1muscle ribosome detachment factorIBA
08/2013
1Messenger RNA (mRNA)IBA
04/2013
1Cycloheximide (Cicloheximide)IBA
04/2013
1DecitabineFDA Link
04/2013
1Myosin Type I (Myosin IA)IBA
04/2013
1MicroRNAs (MicroRNA)IBA
02/2013
1SolutionsIBA
01/2013
1CholesterolIBA
01/2013
1Fluorodeoxyglucose F18 (Fludeoxyglucose F 18)FDA Link
12/2012
1phospholambanIBA
11/2012
1ChromatinIBA
07/2012
1Sunitinib (Sutent)FDA Link
06/2011
1vandetanib (ZD6474)IBA
06/2011
1Axitinib (AG 013736)IBA
06/2011
1Tyrosine Kinase InhibitorsIBA
06/2011
1Small Interfering RNA (siRNA)IBA
05/2011
1Glycine (Aminoacetic Acid)FDA LinkGeneric
03/2011
1Arginine (L-Arginine)FDA Link
03/2011
1StathminIBA
12/2010
1NucleotidesIBA
09/2010
1Amyloid beta-PeptidesIBA
08/2010
1Protein AggregatesIBA
08/2010
1Proto-Oncogene Proteins c-retIBA
07/2010
1Histone MethyltransferasesIBA
06/2010

Therapy/Procedure

3Therapeutics
01/2016 - 08/2003
2Chemoprevention
02/2016 - 11/2011
2Drug Therapy (Chemotherapy)
11/2011 - 08/2005
1Heart Transplantation (Grafting, Heart)
11/2012
1Implantable Defibrillators (Implantable Cardioverter-Defibrillator)
11/2012
1Radiotherapy
11/2011