Stephen P Robertson Selected Research

Filamins

4/2022	Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model.
12/2015	Association of mutations in FLNA with craniosynostosis.
11/2014	Arterial tortuosity in patients with Filamin A- associated vascular aneurysms.
11/2013	Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
5/2013	Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
8/2012	Filamin A mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia.
1/2012	A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.
10/2010	Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction.
12/2009	Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders.
5/2007	Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.

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Stephen P Robertson Research Topics

Disease

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

Drug/Important Bio-Agent (IBA)

14	FilaminsIBA 04/2022 - 07/2006
7	Proteins (Proteins, Gene)FDA Link 12/2015 - 07/2006
3	Retinoic Acid 4-Hydroxylase (CYP26B1)IBA 12/2018 - 11/2011
2	RNA (Ribonucleic Acid)IBA 01/2021 - 07/2010
2	KATP ChannelsIBA 09/2020 - 11/2019
2	PotassiumIBA 09/2020 - 06/2012
2	Histone Acetyltransferases (Histone Acetyltransferase)IBA 11/2012 - 02/2012
1	Nonsense Codon (Nonsense Mutation)IBA 04/2022
1	mouse FLNB proteinIBA 04/2022
1	Centrosomal Associated ProteinsIBA 01/2022
1	Potassium Channels (Potassium Channel)IBA 09/2020
1	Adenosine Triphosphate (ATP)IBA 09/2020
1	CateninsIBA 01/2020
1	LigandsIBA 01/2019
1	Cadherins (E-Cadherin)IBA 01/2019
1	Vitamin A (Retinol)FDA LinkGeneric 12/2018
1	microtubule-associated protein 1B (MAP5)IBA 01/2018
1	Coenzymes (Enzyme Cofactors)IBA 01/2018
1	Protein Isoforms (Isoforms)IBA 01/2018
1	Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA 09/2015
1	Genetic Markers (Genetic Marker)IBA 01/2014
1	ADP-Ribosylation Factors (ADP-Ribosylation Factor)IBA 11/2013
1	Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA 11/2013
1	Mitogen-Activated Protein KinasesIBA 05/2013
1	Contractile ProteinsIBA 01/2013
1	Transforming Growth Factor-beta Type I ReceptorIBA 06/2012
1	EnzymesIBA 11/2011
1	Tretinoin (Retinoic Acid)FDA LinkGeneric 11/2011
1	Cytochrome P450 Family 26IBA 11/2011
1	Proline (L-Proline)FDA Link 03/2011
1	Glutamic Acid (Glutamate)FDA Link 03/2011
1	Serine (L-Serine)FDA Link 03/2011
1	Threonine (L-Threonine)FDA Link 03/2011
1	Amino Acids FDA Link 05/2007
1	OsseusIBA 05/2007
1	SpectrinIBA 05/2007
1	serpentine (alkaloid)IBA 01/2007
1	EphA1 Receptor (Eph Receptor)IBA 06/2004
1	EphrinsIBA 06/2004
1	Ephrin-B1 (Ephrin B1)IBA 06/2004

Therapy/Procedure

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