Daniele Merico Selected Research

Roifman syndrome

1/2017	A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.
11/2015	Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

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Daniele Merico Research Topics

Disease

6	Schizophrenia (Dementia Praecox) 01/2022 - 05/2013
5	Neurodevelopmental Disorders 01/2021 - 05/2013
5	Neoplasms (Cancer) 01/2020 - 01/2015
2	DiGeorge Syndrome (Syndrome, DiGeorge) 11/2017 - 01/2014
2	Roifman syndrome 01/2017 - 11/2015
2	Autistic Disorder (Autism) 01/2016 - 05/2013
2	Glioblastoma (Glioblastoma Multiforme) 01/2016 - 01/2016
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2015 - 03/2010
2	Heart Failure 01/2015 - 03/2010
1	Colitis 11/2021
1	Agammaglobulinemia (Hypogammaglobulinemia) 11/2021
1	Liver Diseases (Liver Disease) 01/2020
1	Post-Traumatic Stress Disorders (Post Traumatic Stress Disorder) 01/2019
1	Type II Isolated Growth Hormone Deficiency 01/2017
1	Failure to Thrive 03/2016
1	Gastroesophageal Reflux (GERD) 03/2016
1	Genetic Predisposition to Disease (Genetic Predisposition) 01/2016
1	Brain Neoplasms (Brain Tumor) 01/2016
1	Turcot syndrome 01/2016
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2015
1	Cardiovascular Diseases (Cardiovascular Disease) 01/2015
1	Intellectual Disability (Idiocy) 05/2014
1	Fragile X Syndrome (Martin Bell Syndrome) 05/2014
1	Temporal Lobe Epilepsy 05/2013
1	Epilepsy (Aura) 05/2013
1	Seizures (Absence Seizure) 05/2013
1	Alkalosis 05/2013
1	Autism Spectrum Disorder 05/2013
1	Osteosarcoma (Osteogenic Sarcoma) 04/2013
1	Neoplasm Metastasis (Metastasis) 04/2013
1	Alzheimer Disease (Alzheimer's Disease) 03/2013
1	Ectrodactyly 07/2011
1	Ectodermal Dysplasia (Aplasia Cutis Congenita) 07/2011
1	Heart Diseases (Heart Disease) 03/2010

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2016 - 03/2010
4	MicroRNAs (MicroRNA)IBA 08/2016 - 01/2014
3	NucleotidesIBA 01/2021 - 02/2015
3	RNA (Ribonucleic Acid)IBA 01/2019 - 03/2013
2	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 11/2017
2	Messenger RNA (mRNA)IBA 01/2016 - 05/2013
2	Protein Isoforms (Isoforms)IBA 03/2013 - 07/2011
1	LipopolysaccharidesIBA 11/2021
1	CTLA-4 AntigenIBA 11/2021
1	OsteoprotegerinIBA 01/2020
1	CopperIBA 01/2020
1	Immunoglobulins (Immunoglobulin)IBA 01/2017
1	B-Cell Antigen Receptors (B Cell Antigen Receptors)IBA 01/2017
1	Fragile X Mental Retardation ProteinIBA 01/2016
1	Immune Checkpoint InhibitorsIBA 01/2016
1	ElementsIBA 11/2015
1	Small Nuclear RNA (snRNA)IBA 11/2015
1	Untranslated RNA (Noncoding RNA)IBA 09/2015
1	DNA-Directed DNA Polymerase (Polymerases, DNA)IBA 03/2015
1	P-2 (P 2)IBA 05/2014
1	gephyrinIBA 05/2013
1	NeuroliginsIBA 05/2013
1	NeurexinsIBA 05/2013
1	Protein Kinase C-epsilonIBA 04/2013
1	Transcription Factors (Transcription Factor)IBA 07/2011
1	Biological ProductsIBA 03/2010

Therapy/Procedure

1	Gastrostomy 03/2016
1	Therapeutics 01/2016
1	Transcutaneous Electric Nerve Stimulation (TENS) 01/2015