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HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing

Journal of biomedical science, 2012-10, Vol.19 (1), p.88-88

2012

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Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings

Frontiers in neurology, 2021-09, Vol.12, p.648588-648588

2021

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Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Nature genetics, 2015-06, Vol.47 (6), p.661-667

2015

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Synergistic post-transcriptional regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 specific binding

PloS one, 2011-10, Vol.6 (10), p.e26601-e26601

2011

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Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific binding

PloS one, 2011-12, Vol.6 (12), p.e28656-e28656

2011

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Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

American journal of human genetics, 2015-07, Vol.97 (1), p.177-185

2015

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Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome

Scientific reports, 2021-01, Vol.11 (1), p.448-448, Article 448

2021

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The emerging role of MicroRNA in schizophrenia

CNS & neurological disorders drug targets, 2015-01, Vol.14 (2), p.208-221

2015

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PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines

Journal of cancer research and clinical oncology, 2019-01, Vol.145 (1), p.137-152

2019

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Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review

Diagnostics (Basel), 2021-02, Vol.11 (2), p.224

2021

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Deep Sequencing the microRNA profile in rhabdomyosarcoma reveals down-regulation of miR-378 family members

BMC cancer, 2014-11, Vol.14 (1), p.880-880, Article 880

2014

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A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

Current issues in molecular biology, 2023-03, Vol.45 (3), p.2422-2430

2023

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Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants

Frontiers in neurology, 2022-02, Vol.12, p.806516

2022

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Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

Genes, 2023-11, Vol.14 (12), p.2157

2023

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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

American journal of human genetics, 2016-04, Vol.98 (4), p.772-781

2016

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Small RNAs and tooth development: The role of microRNAs in tooth agenesis and impaction

Journal of dental sciences, 2024-10, Vol.19 (4), p.2150-2156

2024

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Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis

Diagnostics (Basel), 2022-02, Vol.12 (3), p.575

2022

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A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series

Diagnostics (Basel), 2022-12, Vol.13 (1), p.48

2022

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OTX015 Epi-Drug Exerts Antitumor Effects in Ovarian Cancer Cells by Blocking GNL3-Mediated Radioresistance Mechanisms: Cellular, Molecular and Computational Evidence

Cancers, 2021-03, Vol.13 (7), p.1519

2021

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X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

BMC ophthalmology, 2021-01, Vol.21 (1), p.37-37, Article 37

2021

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Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Journal of medical genetics, 2013-08, Vol.50 (8), p.493-499

2013

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Neurodevelopmental outcome of a child with UPD(16)mat: A case report

Global pediatrics, 2024-09, Vol.9, p.100179, Article 100179

2024

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The role of genetic testing in suspected fulminant myocarditis: A case report

Molecular genetics and metabolism reports, 2023-12, Vol.37, p.101000, Article 101000

2023

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Pharmacological targeting of the ephrin receptor kinase signalling by GLPG1790 in vitro and in vivo reverts oncophenotype, induces myogenic differentiation and radiosensitizes embryonal rhabdomyosarcoma cells

Journal of hematology and oncology, 2017-10, Vol.10 (1), p.161-161, Article 161

2017

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Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

Biomedicines, 2023-07, Vol.11 (7), p.2062

2023

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HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing

Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Synergistic post-transcriptional regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 specific binding

Brain derived neurotrophic factor (BDNF) expression is regulated by microRNAs miR-26a and miR-26b allele-specific binding

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome

The emerging role of MicroRNA in schizophrenia

PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines

Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review

Deep Sequencing the microRNA profile in rhabdomyosarcoma reveals down-regulation of miR-378 family members

A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants

Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Small RNAs and tooth development: The role of microRNAs in tooth agenesis and impaction

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis

A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series

OTX015 Epi-Drug Exerts Antitumor Effects in Ovarian Cancer Cells by Blocking GNL3-Mediated Radioresistance Mechanisms: Cellular, Molecular and Computational Evidence

X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Neurodevelopmental outcome of a child with UPD(16)mat: A case report

The role of genetic testing in suspected fulminant myocarditis: A case report

Pharmacological targeting of the ephrin receptor kinase signalling by GLPG1790 in vitro and in vivo reverts oncophenotype, induces myogenic differentiation and radiosensitizes embryonal rhabdomyosarcoma cells

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

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