HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Stephen P Robertson Selected Research

Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)

3/2024Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
2/2012Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown:


Stephen P Robertson Research Topics

Disease

8Periventricular Nodular Heterotopia
10/2023 - 08/2012
3Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
01/2007 - 07/2006
2Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)
03/2024 - 02/2012
2Spondylocarpotarsal synostosis
04/2022 - 04/2004
2Channelopathies
09/2020 - 06/2012
2Intellectual Disability (Idiocy)
09/2020 - 10/2016
2Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)
01/2018 - 10/2010
2Synostosis
10/2016 - 12/2015
2Craniosynostoses (Craniosynostosis)
11/2011 - 06/2004
2Hajdu-Cheney Syndrome (Multicentric Osteolysis)
03/2011 - 01/2007
2type 2 Oto-palato-digital syndrome
05/2007 - 12/2006
2Larsen Syndrome
02/2007 - 04/2004
2Atelosteogenesis Type 3
07/2006 - 04/2004
1Brain Diseases (Brain Disorder)
04/2024
1Intervertebral Disc Degeneration
04/2022
1Neurodevelopmental Disorders
01/2021
1Gingival Overgrowth
09/2020
1Megalencephaly
09/2020
1Epilepsy (Aura)
09/2020
1Hypertrichosis
09/2020
1Neoplasms (Cancer)
01/2020
1Cantu syndrome
11/2019
1Inborn Genetic Diseases (Disease, Hereditary)
11/2019
1Spontaneous Fractures (Pathological Fracture)
12/2018
1Hypervitaminosis A
12/2018
1Cerebellar Ataxia (Dysmetria)
01/2018
1Coenzyme Q10 Deficiency
01/2018
1Autosomal Dominant Cutis Laxa
09/2015
1Aneurysm (Aneurysms)
11/2014
1Turner Syndrome (Turner's Syndrome)
01/2014
1Anencephaly (Aprosencephaly)
01/2014
1Syndactyly (Polysyndactyly)
01/2014
1Pathologic Constriction (Stenosis)
05/2013
1Noonan Syndrome (Female Pseudo-Turner Syndrome)
05/2013
1Brachydactyly
05/2013
1Congenital Abnormalities (Deformity)
05/2013
1Scoliosis
05/2013
1Seizures (Absence Seizure)
05/2013
1Pyloric Stenosis
03/2013
1Cleft Palate (Palate, Cleft)
03/2013
1Obstructive Sleep Apnea
03/2013
1Facies
03/2013
1Arthrogryposis
01/2013
1Contracture
01/2013
1Young Simpson syndrome
11/2012
1Dyslexia (Alexia)
08/2012
1Loeys-Dietz Syndrome
06/2012
1Boomerang dysplasia
01/2012
1Fibroma (Fibromatosis)
07/2010
1Nervous System Diseases (Neurological Disorders)
12/2009
1Sclerosis
05/2007
1Hereditary Spherocytosis
05/2007
1Serpentine fibula polycystic kidney syndrome
01/2007
1Polycystic Kidney Diseases (Polycystic Kidney Disease)
01/2007
1Polydactyly (Polydactylism)
12/2006
1Hyperostosis
12/2006
1Metabolic Bone Diseases (Osteopenia)
12/2006
1type 1 Atelosteogenesis
07/2006

Drug/Important Bio-Agent (IBA)

14FilaminsIBA
04/2022 - 07/2006
8Proteins (Proteins, Gene)FDA Link
03/2024 - 07/2006
3Retinoic Acid 4-Hydroxylase (CYP26B1)IBA
12/2018 - 11/2011
2RNA (Ribonucleic Acid)IBA
01/2021 - 07/2010
2PotassiumIBA
09/2020 - 06/2012
2KATP ChannelsIBA
09/2020 - 11/2019
2Histone Acetyltransferases (Histone Acetyltransferase)IBA
11/2012 - 02/2012
1Glutamate-Ammonia Ligase (Glutamine Synthetase)IBA
04/2024
1Metformin (Glucophage)FDA LinkGeneric
10/2023
1mouse FLNB proteinIBA
04/2022
1Nonsense Codon (Nonsense Mutation)IBA
04/2022
1Centrosomal Associated ProteinsIBA
01/2022
1Adenosine Triphosphate (ATP)IBA
09/2020
1Potassium Channels (Potassium Channel)IBA
09/2020
1CateninsIBA
01/2020
1LigandsIBA
01/2019
1Cadherins (E-Cadherin)IBA
01/2019
1Vitamin A (Retinol)FDA LinkGeneric
12/2018
1microtubule-associated protein 1B (MAP5)IBA
01/2018
1Protein Isoforms (Isoforms)IBA
01/2018
1Coenzymes (Enzyme Cofactors)IBA
01/2018
1Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA
09/2015
1Genetic Markers (Genetic Marker)IBA
01/2014
1Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA
11/2013
1ADP-Ribosylation Factors (ADP-Ribosylation Factor)IBA
11/2013
1Mitogen-Activated Protein KinasesIBA
05/2013
1Contractile ProteinsIBA
01/2013
1Transforming Growth Factor-beta Type I ReceptorIBA
06/2012
1Tretinoin (Retinoic Acid)FDA LinkGeneric
11/2011
1Cytochrome P450 Family 26IBA
11/2011
1EnzymesIBA
11/2011
1Serine (L-Serine)FDA Link
03/2011
1Proline (L-Proline)FDA Link
03/2011
1Threonine (L-Threonine)FDA Link
03/2011
1Glutamic Acid (Glutamate)FDA Link
03/2011
1SpectrinIBA
05/2007
1Amino AcidsFDA Link
05/2007
1OsseusIBA
05/2007
1serpentine (alkaloid)IBA
01/2007

Therapy/Procedure

2Sutures (Suture)
12/2015 - 06/2004
1Tracheostomy
03/2013
1Distraction Osteogenesis
03/2013