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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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Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants

International journal of molecular sciences, 2022-11, Vol.23 (22), p.14491

2022

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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.88-98

2021

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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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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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KMT2A : Umbrella Gene for Multiple Diseases

Genes, 2022-03, Vol.13 (3), p.514

2022

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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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Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

Genes, 2022-07, Vol.13 (7), p.1275

2022

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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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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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Perthes disease: A new finding in Floating‐Harbor syndrome

American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.703-706

2018

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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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Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

International journal of molecular sciences, 2022-05, Vol.23 (11), p.5912

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.81-6, 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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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

Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes

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"

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene

KMT2A : Umbrella Gene for Multiple Diseases

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

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

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

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

Perthes disease: A new finding in Floating‐Harbor 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

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

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

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

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