Maria Lisa Dentici Selected Research

Neurodevelopmental Disorders

3/2024	DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
1/2023	PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
1/2022	Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.
1/2019	De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

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Maria Lisa Dentici Research Topics

Disease

7	Intellectual Disability (Idiocy) 01/2023 - 12/2012
4	Neurodevelopmental Disorders 03/2024 - 01/2019
2	Atrophy 10/2022 - 10/2016
2	Microcephaly 10/2022 - 10/2016
2	Seizures (Absence Seizure) 01/2022 - 10/2016
2	Epilepsy (Aura) 01/2021 - 09/2020
1	Kabuki syndrome 03/2024
1	Autism Spectrum Disorder 01/2023
1	Weight Gain 01/2023
1	Cardiovascular Diseases (Cardiovascular Disease) 01/2023
1	Hypertension (High Blood Pressure) 01/2023
1	Dysbiosis 01/2023
1	Neurofibromatosis 1 (Neurofibromatosis Type I) 11/2022
1	Neurofibroma 11/2022
1	Muscle Hypotonia (Hypotonia) 10/2022
1	Deafness (Deaf Mutism) 10/2022
1	Genomic Instability 01/2022
1	Movement Disorders (Movement Disorder) 01/2022
1	Osteoporosis 01/2021
1	Hearing Loss (Hearing Impairment) 01/2021
1	Ectodermal Dysplasia (Aplasia Cutis Congenita) 01/2021
1	Coloboma (Colobomas) 12/2020
1	Agenesis of Cerebellar Vermis 12/2020
1	Hypogonadism (Hypergonadotropic Hypogonadism) 12/2020
1	Epileptic Syndromes 11/2020
1	Megalencephaly 09/2020
1	Hypertrichosis 09/2020
1	Gingival Overgrowth 09/2020
1	Channelopathies 09/2020
1	Nervous System Diseases (Neurological Disorders) 02/2020
1	KBG syndrome 01/2020
1	Cardiac Arrhythmias (Arrythmia) 10/2018
1	Brain Diseases (Brain Disorder) 10/2016
1	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2016
1	Optic Atrophy 10/2016
1	Quadriplegia (Spastic Quadriplegia) 10/2016
1	CHARGE Syndrome 09/2015
1	Neoplasms (Cancer) 02/2015
1	Pontocerebellar Hypoplasia 02/2015
1	Alagille Syndrome (Alagille-Watson Syndrome) 12/2013
1	Atrioventricular Septal Defect 02/2013
1	Angelman Syndrome (Syndrome, Angelman) 12/2012
1	Blepharophimosis 12/2012
1	Dubowitz syndrome 03/2011
1	Marden-Walker syndrome 03/2011
1	Noonan Syndrome (Female Pseudo-Turner Syndrome) 06/2009

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2022 - 02/2013
2	Biomarkers (Surrogate Marker)IBA 01/2023 - 01/2020
2	Growth Hormone (Somatotropin)IBA 01/2021 - 12/2020
2	PotassiumIBA 09/2020 - 10/2018
2	TubulinIBA 02/2020 - 10/2016
2	CholesterolIBA 12/2012 - 03/2011
1	Lysine (L-Lysine)FDA Link 03/2024
1	MethyltransferasesIBA 03/2024
1	Complement System Proteins (Complement)IBA 01/2023
1	diazonaphthalenedisulfonic acid (NDS)IBA 01/2023
1	ElastinIBA 01/2023
1	16S Ribosomal RNAIBA 01/2023
1	Neurofibromin 1 (Neurofibromin)IBA 11/2022
1	Retinaldehyde (Retinal)IBA 10/2022
1	DNA (Deoxyribonucleic Acid)IBA 01/2022
1	Laminin (Merosin)IBA 01/2021
1	ThrombospondinsIBA 01/2021
1	AMPA Receptors (AMPA Receptor)IBA 11/2020
1	Glutamic Acid (Glutamate)FDA Link 11/2020
1	Potassium Channels (Potassium Channel)IBA 09/2020
1	Adenosine Triphosphate (ATP)IBA 09/2020
1	KATP ChannelsIBA 09/2020
1	Transcription Factors (Transcription Factor)IBA 01/2019
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 10/2016
1	Initiator Codon (Start Codon)IBA 09/2015
1	Transfer RNA (tRNA)IBA 02/2015
1	BilirubinIBA 12/2013
1	Transaminases (Aminotransferases)IBA 12/2013
1	UbiquitinIBA 12/2012
1	Ligases (Synthetase)IBA 12/2012
1	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 06/2009