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A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined

Brain & development (Tokyo. 1979), 2020-02, Vol.42 (2), p.192-198

2020

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Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome

Brain & development (Tokyo. 1979), 2020-06, Vol.42 (6), p.457-461

2020

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Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration

Brain & development (Tokyo. 1979), 2021-10, Vol.43 (9), p.939-944

2021

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17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype

Genes, 2021-10, Vol.12 (11), p.1660

2021

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Four years follow up of ACY1 deficient patient and pedigree study

Brain & development (Tokyo. 1979), 2018-08, Vol.40 (7), p.570-575

2018

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Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances

Genes, 2022-05, Vol.13 (5), p.859

2022

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De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability

Genes, 2021-03, Vol.12 (4), p.511

2021

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Expanding the KIF4A‐associated phenotype

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3728-3739

2021

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Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

Children (Basel), 2021-06, Vol.8 (6), p.450

2021

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Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

Frontiers in genetics, 2017-05, Vol.8, p.47-47

2017

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Synthetic Response of Stimulated Respiratory Epithelium

Chest, 2013-06, Vol.143 (6), p.1656-1666

2013

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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

Journal of medical genetics, 2023-12, Vol.60 (12), p.1224

2023

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Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion

Epileptic disorders, 2017-06, Vol.19 (2), p.222-225

2017

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Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Frontiers in neurology, 2018-12, Vol.9, p.981-981

2018

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Enhancing IDLG2/I Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances

Genes, 2022-05, Vol.13 (5)

2022

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European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry

BMJ open, 2024-06, Vol.14 (6), p.e080746

2024

Volltextzugriff (PDF)

Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders

Journal of pediatric genetics (Birmingham, Ala.), 2021-12, Vol.10 (4), p.292-299

2021

Volltextzugriff (PDF)

FOCAL CORTICAL DYSPLASIA, MICROCEPHALY AND EPILEPSY IN A BOY WITH 1q21.1-q21.3 DUPLICATION

European journal of medical genetics, 2016-05, Vol.59 (5), p.278-282

2016

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Synthetic response of stimulated respiratory epithelium: modulation by prednisolone and iKK2 inhibition

Chest, 2013-06, Vol.143 (6), p.1656-1666

2013

Volltextzugriff (PDF)

A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

Child neurology open, 2019, Vol.6, p.2329048X19828881-2329048X19828881

2019

Volltextzugriff (PDF)

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion

Child neurology open, 2016-01, Vol.3, p.2329048X16676153-2329048X16676153

2016

Volltextzugriff (PDF)

Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration

Brain & development, 2021, Vol.43 (9), p.939-944

2021

Volltextzugriff (PDF)

De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability

Genes, 2021, Vol.12 (4)

2021

Volltextzugriff (PDF)

A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined

Brain & development, 2020, Vol.42 (2), p.192-198

2020

Volltextzugriff (PDF)

Focusing on Autism Spectrum Disorder in Xia-Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

Children (Basel, Switzerland), 2021, Vol.8 (6)

2021

Volltextzugriff (PDF)

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A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined

Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome

Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration

17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype

Four years follow up of ACY1 deficient patient and pedigree study

Enhancing DLG2 Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances

De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability

Expanding the KIF4A‐associated phenotype

Focusing on Autism Spectrum Disorder in Xia–Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

Synthetic Response of Stimulated Respiratory Epithelium

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Enhancing IDLG2/I Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances

European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry

Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders

FOCAL CORTICAL DYSPLASIA, MICROCEPHALY AND EPILEPSY IN A BOY WITH 1q21.1-q21.3 DUPLICATION

Synthetic response of stimulated respiratory epithelium: modulation by prednisolone and iKK2 inhibition

A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?

Complex Phenotype of a Boy With De Novo 16p13.3-13.2 Interstitial Deletion

Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration

De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability

A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined

Focusing on Autism Spectrum Disorder in Xia-Gibbs Syndrome: Description of a Female with High Functioning Autism and Literature Review

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