Paola Grammatico Selected Research

hereditary Hyperferritinemia with congenital cataracts

1/2016

Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family.

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Paola Grammatico Research Topics

Disease

7	Melanoma (Melanoma, Malignant) 01/2020 - 01/2002
6	Neoplasms (Cancer) 02/2023 - 07/2003
5	Intellectual Disability (Idiocy) 12/2021 - 05/2018
5	Hemochromatosis (Bronze Diabetes) 02/2018 - 02/2002
4	Iron Overload 01/2016 - 02/2002
2	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021 - 01/2018
2	Colorectal Neoplasms (Colorectal Cancer) 01/2021 - 01/2020
2	Motor Skills Disorders (Motor Skills Disorder) 01/2019 - 01/2018
2	Neurodevelopmental Disorders 01/2019 - 01/2018
2	Germ Cell and Embryonal Neoplasms (Germ Cell Tumor) 11/2018 - 08/2018
2	Hypospadias 02/2015 - 04/2010
2	Breast Neoplasms (Breast Cancer) 05/2012 - 08/2008
1	COVID-19 12/2023
1	Infections 12/2023
1	Hamartoma 01/2023
1	Pneumothorax 01/2023
1	Type IV Ehlers-Danlos Syndrome 05/2022
1	Choroideremia 01/2022
1	Trisomy (Trisomies) 01/2022
1	B-Cell Chronic Lymphocytic Leukemia (Chronic Lymphocytic Leukemia) 01/2022
1	Mullerian aplasia 05/2021
1	Autistic Disorder (Autism) 01/2021
1	Colonic Neoplasms (Colon Cancer) 01/2021
1	Non-Small-Cell Lung Carcinoma (Carcinoma, Non-Small Cell Lung) 01/2020
1	Hemoglobinopathies 01/2020
1	Osteogenesis Imperfecta (Lobstein Disease) 01/2020
1	Gastrointestinal Stromal Tumors (Gastrointestinal Stromal Tumor) 01/2020
1	MASS syndrome 10/2019
1	Marfan Syndrome (Marfan's Syndrome) 10/2019
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 08/2019
1	Autosomal Dominant Iron Overload 02/2018
1	Agraphia (Dysgraphia) 01/2018
1	Learning Disabilities (Learning Disability) 01/2018
1	Thrombophilia 01/2018
1	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2018
1	Loeys-Dietz Syndrome 01/2018
1	Posterior column ataxia with retinitis pigmentosa 10/2017
1	Cardiomyopathies (Cardiomyopathy) 01/2017
1	Pain (Aches) 12/2016
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 06/2016
1	Cataract (Cataracts) 01/2016
1	hereditary Hyperferritinemia with congenital cataracts 01/2016
1	Body Weight (Weight, Body) 02/2015
1	Disorders of Sex Development (Intersexuality) 11/2014
1	Cicatrix (Scar) 09/2012
1	Prolapse 09/2012
1	Venous Thrombosis (Deep-Vein Thrombosis) 09/2012
1	Hemorrhage 09/2012
1	Respiratory Insufficiency (Respiratory Failure) 08/2012
1	Autonomic Nervous System Diseases (Dysautonomia) 08/2012
1	Adjustment Disorders (Adjustment Disorder) 08/2012
1	Osteoarthritis 08/2012
1	Muscle Weakness 08/2012
1	Joint Instability (Joint Laxity) 08/2012

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 12/2021 - 08/2008
4	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 01/2002
4	IronIBA 02/2018 - 11/2009
4	HepcidinsIBA 02/2018 - 02/2002
2	Cell-Free Nucleic AcidsIBA 01/2022 - 11/2021
2	ChromatinIBA 01/2020 - 08/2019
2	dicarboxydine (DCD)IBA 01/2019 - 01/2018
2	Biomarkers (Surrogate Marker)IBA 11/2018 - 08/2018
2	metal transporting protein 1 (ferroportin)IBA 02/2018 - 11/2009
2	Heme (Haem)IBA 10/2017 - 12/2016
2	MicroRNAs (MicroRNA)IBA 04/2014 - 06/2012
2	HLA Antigens (Human Leukocyte Antigens)IBA 01/2014 - 07/2003
1	VaccinesIBA 12/2023
1	nuclear pore complex protein 98IBA 02/2023
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2023
1	Lysine (L-Lysine)FDA Link 05/2022
1	CollagenIBA 05/2022
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 05/2022
1	Glutamic Acid (Glutamate)FDA Link 05/2022
1	dichlorobis(azomycin)platinum IIIBA 01/2022
1	Retinaldehyde (Retinal)IBA 01/2022
1	Phosphotransferases (Kinase)IBA 12/2021
1	Protein Kinases (Protein Kinase)IBA 05/2021
1	Transcription Factors (Transcription Factor)IBA 01/2021
1	Circulating Tumor DNAIBA 01/2021
1	alpha2 Subunit Collagen Type IIBA 01/2020
1	Fibrillin-1IBA 10/2019
1	Histones (Histone)IBA 08/2019
1	Nonsense Codon (Nonsense Mutation)IBA 05/2018
1	factor V LeidenIBA 01/2018
1	Transforming Growth Factor-beta Type II ReceptorIBA 01/2018
1	Lamin Type A (Lamin A)IBA 01/2017
1	Ferritins (Ferritin)IBA 01/2016
1	Environmental Pollutants (Pollutants, Environmental)IBA 02/2015
1	Testosterone (Sustanon)FDA Link 11/2014
1	3' Untranslated Regions (3' UTR)IBA 04/2014
1	HLA-A Antigens (HLA-A)IBA 01/2014
1	HLA-G Antigens (HLA G)IBA 01/2014
1	LigandsIBA 01/2014
1	Peptides (Polypeptides)IBA 01/2014
1	HLA-B Antigens (HLA-B)IBA 01/2014
1	HLA-C Antigens (HLA-C)IBA 01/2014
1	Analgesics (Analgesic Drugs)IBA 08/2012

Therapy/Procedure

2	Therapeutics 01/2021 - 01/2020
2	Ligation 04/2008 - 11/2006
1	Episiotomy 09/2012