Nara Sobreira Selected Research

Strudwick syndrome

11/2017	Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
1/2015	An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

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Nara Sobreira Research Topics

Disease

2	Kabuki syndrome 01/2022 - 12/2017
2	Rare Diseases (Rare Disease) 01/2019 - 10/2015
2	Strudwick syndrome 11/2017 - 01/2015
2	Intellectual Disability (Idiocy) 01/2016 - 09/2015
1	Fibrosis (Cirrhosis) 01/2022
1	Kidney Diseases (Kidney Disease) 01/2022
1	Liver Cirrhosis (Hepatic Cirrhosis) 01/2022
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2022
1	Meningioma (Meningiomas) 01/2020
1	Deafness (Deaf Mutism) 01/2020
1	Transaldolase Deficiency 01/2019
1	Acute Febrile Encephalopathy 01/2019
1	Neutropenia 01/2019
1	Splenomegaly 01/2019
1	Thrombocytopenia (Thrombopenia) 01/2019
1	Liver Failure 01/2019
1	Respiratory Syncytial Virus Infections 01/2019
1	Arrhythmogenic Right Ventricular Dysplasia (Arrhythmogenic Right Ventricular Cardiomyopathy) 01/2018
1	Atrophy 01/2018
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2017
1	Muscle Hypotonia (Hypotonia) 09/2015
1	Seizures (Absence Seizure) 09/2015
1	Vision Disorders (Hemeralopia) 09/2015
1	Sensorineural Hearing Loss 09/2015
1	Microcephaly 09/2015
1	Developmental Bone Diseases (Bone Dysplasia) 01/2015
1	type 6 Osteogenesis imperfecta 12/2014
1	Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 01/2014

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2022 - 09/2015
1	ChromatinIBA 01/2022
1	Sirtuin 1IBA 01/2022
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2020
1	DNA (Deoxyribonucleic Acid)IBA 01/2020
1	Factor VII (Proconvertin)IBA 01/2020
1	TransaldolaseIBA 01/2019
1	Acetaminophen (Paracetamol)FDA LinkGeneric 01/2019
1	Acetylcysteine (Siran)FDA LinkGeneric 01/2019
1	alpha-Fetoproteins (alpha-Fetoprotein)IBA 01/2019
1	AntioxidantsIBA 01/2019
1	Nuclear Pore Complex Proteins (Nucleoporins)IBA 01/2019
1	Retinaldehyde (Retinal)IBA 01/2018
1	PlectinIBA 01/2018
1	EnzymesIBA 12/2017
1	Histones (Histone)IBA 12/2017
1	Fibronectins (Fibronectin)IBA 11/2017
1	MMEIBA 10/2015
1	Lamin B ReceptorIBA 01/2015
1	Glycoproteins (Glycoprotein)IBA 12/2014
1	SerpinsIBA 12/2014
1	Phosphatidylcholines (Phosphatidylcholine)IBA 01/2014

Therapy/Procedure

1	Precision Medicine 01/2019