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Ancient Romans and Down Syndrome

Pediatric research, 2021-12, Vol.90 (6), p.1266-1267

2021

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Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.112-112, Article 112

2021

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Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia

Frontiers in genetics, 2023, Vol.14, p.1255807-1255807

2023

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Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

Frontiers in genetics, 2024-01, Vol.14, p.1307934-1307934

2024

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A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.1-235, Article 235

2022

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The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children's Hospital

Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.107-4, Article 107

2017

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Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report

Italian journal of pediatrics, 2023-08, Vol.49 (1), p.1-101, Article 101

2023

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SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

Frontiers in molecular neuroscience, 2023-08, Vol.16, p.1228389-1228389

2023

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Homozygous familial hypercholesterolaemia

The Lancet (British edition), 2012-04, Vol.379 (9823), p.1330-1330

2012

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Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study

Cancer control, 2023-01, Vol.30, p.10732748221144930-10732748221144930

2023

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Nomenclature and definition in asymmetric regional body overgrowth

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1735-1738

2017

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Two Italian Patients with ELOVL4 -Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

Genes, 2021-02, Vol.12 (3), p.343

2021

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Eruptive Xanthomas in Lipoprotein Lipase Deficiency

The Journal of pediatrics, 2017-08, Vol.187, p.330-330

2017

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Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride

Journal of clinical lipidology, 2017-11, Vol.11 (6), p.1329-1337.e3

2017

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Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome

Journal of clinical medicine, 2022-07, Vol.11 (14), p.4078

2022

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Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype

Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100592, Article 100592

2020

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Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome

Diagnostics (Basel), 2021-06, Vol.11 (6), p.1005

2021

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Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Diagnostics (Basel), 2021-02, Vol.11 (2), p.218

2021

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Corneal Arcus as First Sign of Familial Hypercholesterolemia

The Journal of pediatrics, 2014-03, Vol.164 (3), p.670-670

2014

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Highlighting the bone cells alterations in Gorham-Stout Disease

Bone Reports, 2020-10, Vol.13, p.100655, Article 100655

2020

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A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

Italian journal of pediatrics, 2017-08, Vol.43 (1), p.65-65, Article 65

2017

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An 8-Month-Old Infant with Persistent Stridor

Pediatric annals, 2016-02, Vol.45 (2), p.e42

2016

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Pediatric Cholesterol Screening In Italy: The Spif Project

Journal of clinical lipidology, 2016-05, Vol.10 (3), p.685-685

2016

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Ancient Romans and Down Syndrome

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Commentary: Case report: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) presenting with liver cirrhosis and steroid-responsive interstitial pneumonia

Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children's Hospital

Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report

SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome

Homozygous familial hypercholesterolaemia

Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study

Nomenclature and definition in asymmetric regional body overgrowth

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

Two Italian Patients with ELOVL4 -Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

Eruptive Xanthomas in Lipoprotein Lipase Deficiency

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome

Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype

Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome

Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Corneal Arcus as First Sign of Familial Hypercholesterolemia

Highlighting the bone cells alterations in Gorham-Stout Disease

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

An 8-Month-Old Infant with Persistent Stridor

Pediatric Cholesterol Screening In Italy: The Spif Project

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