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Genetics and Clinical Neuroscience in Intellectual Disability

Brain sciences, 2022-03, Vol.12 (3), p.338

Romano, Corrado

2022

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The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study

International journal of molecular sciences, 2024-10, Vol.25 (19), p.10826

2024

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Relative burden of large CNVs on a range of neurodevelopmental phenotypes

PLoS genetics, 2011-11, Vol.7 (11), p.e1002334

2011

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Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes

Genes & Genomics, 2023, 45(4), , pp.491-505

2023

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Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

Pediatrics (Evanston), 2008-02, Vol.121 (2), p.404-410

2008

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mRNA expression profiling of mitochondrial subunits in subjects with Parkinson's disease

Archives of medical science, 2023-01, Vol.19 (3), p.678-686

2023

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Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations

Italian journal of pediatrics, 2021-04, Vol.47 (1), p.94-94, Article 94

2021

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Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome

BMC medical genetics, 2019-01, Vol.20 (1), p.4-4, Article 4

2019

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Low TGF-β1 plasma levels are associated with cognitive decline in Down syndrome

Frontiers in pharmacology, 2024-03, Vol.15, p.1379965-1379965

2024

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Study of the MDM2 -410T-G polymorphism (rs2279744) by pyrosequencing in mothers of Down Syndrome subjects

Human cell : official journal of Human Cell Research Society, 2020-07, Vol.33 (3), p.476-478

2020

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Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study

Human cell : official journal of Human Cell Research Society, 2021-11, Vol.34 (6), p.1662-1670

2021

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PTEN Gene : A Model for Genetic Diseases in Dermatology

TheScientificWorld, 2012-01, Vol.2012 (2012), p.1-8

2012

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SOX13 gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome

Asian journal of andrology, 2021-03, Vol.23 (2), p.157-162

2021

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Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder

Biomedicines, 2024-06, Vol.12 (7), p.1402

2024

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Prader–Willi Syndrome with Angelman Syndrome in the Offspring

Medicina (Kaunas, Lithuania), 2021-05, Vol.57 (5), p.460

2021

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The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review

Life (Basel, Switzerland), 2023-02, Vol.13 (2), p.554

2023

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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Journal of human genetics, 2016-02, Vol.61 (2), p.95-101

2016

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Expression of miR-132 in Down syndrome subjects

Human cell : official journal of Human Cell Research Society, 2018-07, Vol.31 (3), p.268-270

2018

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Seroepidemiological Survey on the Impact of Smoking on SARS-CoV-2 Infection and COVID-19 Outcomes: Protocol for the Troina Study

JMIR research protocols, 2021-11, Vol.10 (11), p.e32285-e32285

2021

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Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects

Human cell : official journal of Human Cell Research Society, 2018-04, Vol.31 (2), p.179-181

2018

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Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

BMC genomics, 2010-07, Vol.3 (1), p.28-28, Article 28

2010

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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Molecular cytogenetics, 2013-01, Vol.6 (1), p.4-4

2013

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Hypersensitivity to aromatic anticonvulsants: in vivo and in vitro cross-reactivity studies

Current pharmaceutical design, 2006-09, Vol.12 (26), p.3373-3381

2006

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LDOC1 expression in fibroblasts of patients with Down syndrome

Open life sciences, 2015-03, Vol.10 (1)

2015

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CASP3 protein expression by flow cytometry in Down’s syndrome subjects

Human cell : official journal of Human Cell Research Society, 2014, Vol.27 (1), p.43-45

2014

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Genetics and Clinical Neuroscience in Intellectual Disability

The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

mRNA expression profiling of mitochondrial subunits in subjects with Parkinson's disease

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations

Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome

Low TGF-β1 plasma levels are associated with cognitive decline in Down syndrome

Study of the MDM2 -410T-G polymorphism (rs2279744) by pyrosequencing in mothers of Down Syndrome subjects

Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study

PTEN Gene : A Model for Genetic Diseases in Dermatology

SOX13 gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome

Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder

Prader–Willi Syndrome with Angelman Syndrome in the Offspring

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Expression of miR-132 in Down syndrome subjects

Seroepidemiological Survey on the Impact of Smoking on SARS-CoV-2 Infection and COVID-19 Outcomes: Protocol for the Troina Study

Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

Hypersensitivity to aromatic anticonvulsants: in vivo and in vitro cross-reactivity studies

LDOC1 expression in fibroblasts of patients with Down syndrome

CASP3 protein expression by flow cytometry in Down’s syndrome subjects

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