Ghayda M Mirzaa Selected Research

Megalencephaly

1/2022	The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
1/2021	Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
11/2016	Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
6/2014	Introduction: Brain malformations.
6/2012	De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

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!

Ghayda M Mirzaa Research Topics

Disease

5	Megalencephaly 01/2022 - 06/2012
5	Microcephaly 01/2021 - 05/2013
3	Neurodevelopmental Disorders 01/2021 - 01/2020
3	Lissencephaly 10/2019 - 11/2018
3	Hemimegalencephaly 06/2015 - 06/2014
2	Polymicrogyria 01/2021 - 01/2018
1	Diffuse Large B-Cell Lymphoma (Lymphoma, Large Cell, Diffuse) 01/2022
1	Drug Resistant Epilepsy 01/2022
1	Neoplasms (Cancer) 01/2022
1	Polydactyly (Polydactylism) 01/2021
1	Hypoxia (Hypoxemia) 01/2021
1	Arteriovenous Malformations (Arteriovenous Malformation) 01/2021
1	Vascular Malformations 01/2021
1	Hydrocephalus (Hydrocephaly) 01/2021
1	Brugada Syndrome 12/2018
1	Timothy syndrome 12/2018
1	Brain Injuries (Brain Injury) 11/2018
1	Sepsis (Septicemia) 11/2018
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2018
1	Marshall-Smith syndrome 01/2018
1	Seizures (Absence Seizure) 11/2016
1	Epilepsy (Aura) 06/2015
1	Focal cortical dysplasia of Taylor 06/2015
1	Dwarfism 08/2014
1	Type II Microcephalic Osteodysplastic Primordial Dwarfism 08/2014
1	Thymoma (Thymic Carcinoma) 06/2014

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2021 - 08/2014
2	Cell-Free Nucleic AcidsIBA 01/2022 - 01/2021
1	TeratogensIBA 01/2021
1	Heterogeneous-Nuclear Ribonucleoproteins (Informatin)IBA 01/2021
1	Messenger RNA (mRNA)IBA 01/2020
1	Cytoskeletal ProteinsIBA 10/2019
1	SphingolipidsIBA 10/2019
1	CateninsIBA 10/2019
1	adenomatous polyposis coli protein 2IBA 10/2019
1	Platelet Activating FactorIBA 10/2019
1	SpectrinIBA 12/2018
1	CalciumIBA 12/2018
1	Calcium Channels (Calcium Channel)IBA 12/2018
1	Sirolimus (Rapamycin)FDA Link 11/2018
1	DNA (Deoxyribonucleic Acid)IBA 11/2018
1	Biological ProductsIBA 11/2018
1	Monomeric GTP-Binding ProteinsIBA 01/2018
1	Codon (Codons)IBA 01/2018
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 01/2018
1	LigandsIBA 01/2018
1	Caspase 2IBA 11/2016
1	Phosphotransferases (Kinase)IBA 06/2015
1	Ribosomal Proteins (Ribosomal Protein)IBA 06/2015
1	TubulinIBA 06/2014
1	TensinsIBA 06/2014
1	Phosphatidylinositol 3-Kinase (1 Phosphatidylinositol 3 Kinase)IBA 06/2014
1	PTEN Phosphohydrolase (PTEN Phosphatase)IBA 06/2014
1	Deubiquitinating EnzymesIBA 05/2013
1	EnzymesIBA 06/2012

Therapy/Procedure

1	Therapeutics 11/2018
1	Electrodes (Electrode) 01/2018