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Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-09, Vol.178 (3), p.281-290

2018

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Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-09, Vol.178 (3), p.355-364

2018

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The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.237-237, Article 237

2020

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Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Orphanet journal of rare diseases, 2018-01, Vol.13 (1), p.25-25, Article 25

2018

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Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights

Scientific reports, 2024-07, Vol.14 (1), p.15454-10, Article 15454

2024

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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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P566: Global genetic health assessment project: Let's not leave anyone behind

Genetics in Medicine Open, 2024, Vol.2, p.101465, Article 101465

2024

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Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

Orphanet journal of rare diseases, 2015-12, Vol.10 (1), p.154-154, Article 154

2015

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Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

International journal of molecular sciences, 2019-07, Vol.20 (15), p.3621

2019

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Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

International journal of molecular sciences, 2024-01, Vol.25 (2), p.1248

2024

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Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

Frontiers in neurology, 2020-12, Vol.11, p.613035-613035

2020

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Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis

PloS one, 2016-05, Vol.11 (5), p.e0155331-e0155331

2016

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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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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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Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature

Endocrine Connections, 2024-10, Vol.13 (10), p.1-9

2024

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Tuberous sclerosis complex

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-09, Vol.178 (3), p.274-277

2018

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Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies

Frontiers in cell and developmental biology, 2021-04, Vol.9, p.654467-654467

2021

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Exploring the Role of Matrix Metalloproteinases as Biomarkers in Sporadic Lymphangioleiomyomatosis and Tuberous Sclerosis Complex. A Pilot Study

Frontiers in medicine, 2021-04, Vol.8, p.605909-605909

2021

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O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions

Genetics in Medicine Open, 2023, Vol.1 (1), p.100650, Article 100650

2023

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Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.2009-2015

2013

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P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

Genetics in Medicine Open, 2023, Vol.1 (1), p.100295, Article 100295

2023

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Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis

American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1551-1559

2015

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7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature

European journal of medical genetics, 2015-11, Vol.58 (11), p.578-583

2015

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Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway?

BMC pulmonary medicine, 2017-07, Vol.17 (1), p.107-107, Article 107

2017

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Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practice

Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1

Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights

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

P566: Global genetic health assessment project: Let's not leave anyone behind

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

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

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature

Tuberous sclerosis complex

Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies

Exploring the Role of Matrix Metalloproteinases as Biomarkers in Sporadic Lymphangioleiomyomatosis and Tuberous Sclerosis Complex. A Pilot Study

O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions

Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature

P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature

Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway?

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