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Advances in understanding - genetic basis of intellectual disability [version 1; peer review: 2 approved]

F1000 research, 2016, Vol.5, p.599

2016

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Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?

International journal of molecular sciences, 2022-05, Vol.23 (10), p.5425

2022

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Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy

Scientific reports, 2022-03, Vol.12 (1), p.3774-3774, Article 3774

2022

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Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Nature genetics, 2012-06, Vol.44 (6), p.636-638

2012

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Deep brain stimulation in Fragile X syndrome with tardive dystonia

Neurological sciences, 2021-07, Vol.42 (7), p.2987-2989

2021

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NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence

Rheumatology (Oxford, England), 2020-11, Vol.59 (11), p.3129-3136

2020

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Aldo-Keto Reductase 1C1 ( AKR1C1 ) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema

International journal of molecular sciences, 2020-08, Vol.21 (17), p.6264

2020

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DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome

Biomolecules (Basel, Switzerland), 2021-02, Vol.11 (2), p.296

2021

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Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

International journal of molecular sciences, 2021-07, Vol.22 (13), p.7207

2021

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Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing

Scientific reports, 2022-06, Vol.12 (1), p.11106-11106, Article 11106

2022

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Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders

International journal of molecular sciences, 2024-03, Vol.25 (6), p.3421

2024

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A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

Nature neuroscience, 2007-05, Vol.10 (5), p.578-587

2007

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Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability

International journal of molecular sciences, 2024-01, Vol.25 (1), p.495

2024

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Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2

Neurological sciences, 2020-12, Vol.41 (12), p.3761-3763

2020

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Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene

Human genetics, 2020-02, Vol.139 (2), p.227-245

2020

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Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation

European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.567-575

2020

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A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

BMC medical genomics, 2024-04, Vol.17 (1), p.100-100, Article 100

2024

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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Journal of medical genetics, 2012-08, Vol.49 (8), p.502-512

2012

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Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants

Progress in orthodontics, 2021-12, Vol.22 (1), p.1-14, Article 43

2021

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A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa

Eating and weight disorders, 2022-06, Vol.27 (5), p.1869-1880

2022

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Transcranial direct current stimulation combined with speech therapy in Fragile X syndrome patients: a pilot study

Frontiers in neurology, 2023-12, Vol.14, p.1268165-1268165

2023

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Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series

Bioengineering (Basel), 2023-01, Vol.10 (2), p.154

2023

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Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals

Frontiers in genetics, 2022-06, Vol.13, p.914345-914345

2022

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Role of CTCF protein in regulating FMR1 locus transcription

PLoS genetics, 2013-07, Vol.9 (7), p.e1003601-e1003601

2013

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A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report

BMC oral health, 2019-11, Vol.19 (1), p.249-249, Article 249

2019

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Advances in understanding - genetic basis of intellectual disability [version 1; peer review: 2 approved]

Mechanisms of the FMR1 Repeat Instability: How Does the CGG Sequence Expand?

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

Deep brain stimulation in Fragile X syndrome with tardive dystonia

NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence

Aldo-Keto Reductase 1C1 ( AKR1C1 ) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

Identification of ultra-rare genetic variants in pediatric acute onset neuropsychiatric syndrome (PANS) by exome and whole genome sequencing

Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders

A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability

Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability

Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2

Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation

A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants

A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa

Transcranial direct current stimulation combined with speech therapy in Fragile X syndrome patients: a pilot study

Exfoliative Cytology and Genetic Analysis for a Non-Invasive Approach to the Diagnosis of White Sponge Nevus: Case Series

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals

Role of CTCF protein in regulating FMR1 locus transcription

A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report

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