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Fragile X syndrome: a review of clinical and molecular diagnoses

Italian journal of pediatrics, 2017-04, Vol.43 (1), p.39-39, Article 39

2017

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Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review

Endocrine, 2023-07, Vol.81 (1), p.98-106

2023

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Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

Italian journal of pediatrics, 2015-01, Vol.41 (1), p.4-4, Article 4

2015

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ZC4H2 deletions can cause severe phenotype in female carriers

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1358-1363

2017

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The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene

Genes, 2024-06, Vol.15 (6), p.654

2024

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Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Journal of clinical immunology, 2020-08, Vol.40 (6), p.851-860

2020

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Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"

Frontiers in neurology, 2020-12, Vol.11, p.593446-593446

2020

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Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome

International journal of molecular sciences, 2021-03, Vol.22 (7), p.3621

2021

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From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome – case report

Italian journal of pediatrics, 2022-10, Vol.48 (1), p.1-177, Article 177

2022

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Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1257-1261

2016

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Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome

Genes, 2022-11, Vol.13 (12), p.2197

2022

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Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

Genes, 2023-01, Vol.14 (2), p.295

2023

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Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Human mutation, 2020-06, Vol.41 (6), p.1183-1183

2020

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Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Neurogenetics, 2022-01, Vol.23 (1), p.27-35

2022

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Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Neurogenetics, 2022, Vol.23 (1), p.81-81

2022

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Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test

The journal of obstetrics and gynaecology research, 2019-03, Vol.45 (3), p.705-708

2019

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A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

Italian journal of pediatrics, 2021-03, Vol.47 (1), p.81-81, Article 81

2021

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Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

Genes, 2021-04, Vol.12 (4), p.588

2021

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iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

Stem cell research, 2018-07, Vol.30, p.130-140

2018

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Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review

Skeletal muscle, 2022-09, Vol.12 (1), p.1-23, Article 23

2022

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Incidental finding of APC deletion in a child: double trouble or double chance? - a case report

Italian journal of pediatrics, 2021-02, Vol.47 (1), p.31-31, Article 31

2021

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16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation

European journal of medical genetics, 2017-03, Vol.60 (3), p.159-162

2017

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A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

American journal of medical genetics. Part A, 2018-06, Vol.176 (6), p.1427-1431

2018

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Fragile X syndrome: a review of clinical and molecular diagnoses

Thyroid findings in pediatric and adult patients with PTEN hamartoma tumor syndrome: A retrospective analysis, and literature review

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

ZC4H2 deletions can cause severe phenotype in female carriers

The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"

Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome

From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome – case report

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development

A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review

Incidental finding of APC deletion in a child: double trouble or double chance? - a case report

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

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