Pinar Bayrak-Toydemir Selected Research

Fibrillin-1

8/2015

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

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Pinar Bayrak-Toydemir Research Topics

Disease

7	Hereditary Hemorrhagic Telangiectasia 12/2021 - 07/2004
2	Neoplasms (Cancer) 01/2022 - 05/2010
2	Arteriovenous Malformations (Arteriovenous Malformation) 12/2021 - 03/2006
2	Telangiectasis (Telangiectasia) 12/2021 - 03/2006
2	Cryptorchidism (Undescended Testes) 01/2019 - 11/2010
1	Marshall-Smith syndrome 01/2024
1	Vascular Malformations 01/2023
1	Friedreich Ataxia (Friedreich's Ataxia) 01/2022
1	Pulmonary Arterial Hypertension 12/2021
1	Osteoporosis 01/2019
1	Hypopituitarism (Sheehan's Syndrome) 01/2019
1	Intellectual Disability (Idiocy) 01/2019
1	Delayed Puberty 01/2019
1	Hereditary Spastic Paraplegia 01/2018
1	Dystonia (Limb Dystonia) 01/2018
1	Spastic Paraparesis 01/2018
1	Pelizaeus-Merzbacher Disease 01/2018
1	Familial Primary Pulmonary Hypertension 01/2017
1	Pulmonary Veno-Occlusive Disease (Veno Occlusive Disease, Pulmonary) 01/2017
1	Arthrogryposis 09/2016
1	Marfan Syndrome (Marfan's Syndrome) 08/2015
1	Rett Syndrome (Rett's Disorder) 03/2014
1	Congenital Disorders of Glycosylation 01/2014
1	Dandy-Walker Syndrome (Dandy Walker Malformation) 11/2010
1	Cataract (Cataracts) 11/2010
1	Uniparental Disomy 09/2004

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2024 - 05/2010
3	EndoglinIBA 05/2019 - 03/2006
2	5' Untranslated Regions (5' UTR)IBA 04/2019 - 12/2011
2	DNA (Deoxyribonucleic Acid)IBA 03/2014 - 07/2004
1	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 01/2023
1	Adenine FDA LinkGeneric 01/2022
1	Sepharose (Agarose)IBA 01/2022
1	GuanineIBA 01/2022
1	Nonsense Codon (Nonsense Mutation)IBA 12/2021
1	Thyroid HormonesIBA 01/2019
1	SphingomyelinsIBA 01/2019
1	Histone MethyltransferasesIBA 01/2019
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2018
1	PterinsIBA 01/2018
1	hydralazine 4-anisaldehyde hydrazoneIBA 01/2017
1	Ion Channels (Ion Channel)IBA 09/2016
1	Fibrillin-1IBA 08/2015
1	Transforming Growth Factor beta (TGF-beta)IBA 09/2013
1	Collodion (Nitrocellulose)IBA 11/2010
1	activin receptor type II-A (activin A receptor, type II)IBA 03/2006
1	Dacarbazine (DIC)FDA LinkGeneric 09/2004