Roberta Onesimo Selected Research

Spondyloepimetaphyseal Dysplasia With Joint Laxity

10/2021

Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.

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Roberta Onesimo Research Topics

Disease

2	De Lange Syndrome (Cornelia De Lange Syndrome) 01/2021 - 01/2020
2	Neoplasms (Cancer) 01/2021 - 01/2019
2	Cardiofaciocutaneous syndrome 01/2021 - 11/2020
2	Epilepsy (Aura) 09/2020 - 01/2016
2	Mucocutaneous Lymph Node Syndrome (Kawasaki Disease) 04/2010 - 02/2010
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 05/2022
1	Pulmonary Valve Stenosis (Pulmonary Stenosis) 01/2022
1	Smith-Magenis Syndrome 01/2022
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2022
1	Al-Gazali Syndrome 10/2021
1	Spondyloepimetaphyseal Dysplasia With Joint Laxity 10/2021
1	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 10/2021
1	Congenital Abnormalities (Deformity) 01/2021
1	KBG syndrome 01/2021
1	Fetal Diseases (Embryopathy) 01/2021
1	Megalencephaly 09/2020
1	Hypertrichosis 09/2020
1	Intellectual Disability (Idiocy) 09/2020
1	Gingival Overgrowth 09/2020
1	Channelopathies 09/2020
1	Dystonia (Limb Dystonia) 07/2020
1	Costello Syndrome 07/2020
1	Anetoderma 05/2020
1	Gastroesophageal Reflux (GERD) 01/2020
1	Infectious Arthritis (Septic Arthritis) 09/2019
1	Arthritis (Polyarthritis) 09/2019
1	Hyperplasia 01/2019
1	Carcinoma (Carcinomatosis) 01/2019
1	Proteus Syndrome 01/2019
1	Rare Diseases (Rare Disease) 01/2019
1	Proteinuria 01/2018
1	Chronic Renal Insufficiency 01/2018
1	Microcephaly 01/2016
1	Guillain-Barre Syndrome 07/2012
1	Urticaria (Hives) 01/2012
1	Hypersensitivity (Allergy) 01/2012
1	Bacteremia 10/2011
1	Lymphadenitis (Adenitis) 10/2011
1	Staphylococcal Infections 10/2011
1	Food Hypersensitivity (Food Allergy) 03/2010
1	Milk Hypersensitivity (Milk Allergy) 03/2010
1	Fever (Fevers) 02/2010
1	Juvenile Arthritis (Juvenile Idiopathic Arthritis) 02/2010

Drug/Important Bio-Agent (IBA)

3	Immunoglobulins (Immunoglobulin)IBA 11/2020 - 02/2010
3	Intravenous Immunoglobulins (IVIG)FDA Link 07/2012 - 02/2010
2	Immunoglobulin E (IgE)IBA 01/2012 - 03/2010
1	nusinersenIBA 05/2022
1	Proteins (Proteins, Gene)FDA Link 01/2022
1	MitogensIBA 01/2022
1	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/2022
1	Protein Kinases (Protein Kinase)IBA 01/2022
1	Leucine (L-Leucine)FDA Link 01/2022
1	GalactosyltransferasesIBA 10/2021
1	GlycosaminoglycansIBA 10/2021
1	Biological ProductsIBA 01/2021
1	Mitogen-Activated Protein KinasesIBA 01/2021
1	ChromatinIBA 01/2021
1	Adenosine Triphosphate (ATP)IBA 09/2020
1	PotassiumIBA 09/2020
1	Potassium Channels (Potassium Channel)IBA 09/2020
1	KATP ChannelsIBA 09/2020
1	Trihexyphenidyl (Artane)FDA LinkGeneric 07/2020
1	Vitamin K 1 (Phylloquinone)FDA LinkGeneric 05/2020
1	Proton Pump InhibitorsIBA 01/2020
1	Biomarkers (Surrogate Marker)IBA 01/2020
1	Anti-Bacterial Agents (Antibiotics)IBA 09/2019
1	Sirolimus (Rapamycin)FDA Link 01/2019
1	Therapeutic UsesIBA 01/2019
1	MiransertibIBA 01/2019
1	Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA 01/2018
1	ParvalbuminsIBA 01/2012
1	Vitamin K FDA Link 10/2011
1	Aspirin (Acetylsalicylic Acid)FDA LinkGeneric 02/2010
1	Adrenal Cortex Hormones (Corticosteroids)IBA 02/2010
1	Methylprednisolone FDA LinkGeneric 02/2010

Therapy/Procedure

5	Therapeutics 09/2019 - 03/2010
1	Catheters 01/2022
1	Biliopancreatic Diversion 01/2021
1	Bariatric Surgery 01/2021
1	Fundoplication 01/2020
1	Precision Medicine 01/2019