Whole Genome Sequencing

Il bambino con il naso a becco di uccello

Gauci MC, Portale G, di Cataldo G, Leone G, Gambilonghi F, di Nora A, Caruso M

2026/1 — pag. 24-26 — DOI

This report describes the case of an 8-year-old boy presenting with short stature and distinctive facial features, including microphthalmia, a “beak-shaped” nose and mandibular hypoplasia. A clinical diagnosis of Hallermann-Streiff Syndrome (HSS), ch...

Screening genomici neonatali: opportunità e sfide etiche

De Curtis M.

2025/10 — pag. 643-645 — DOI

Neonatal screening is one of the most significant achievements in preventive medicine that enables the early detection and treatment of many rare metabolic and genetic disorders. The introduction of exome (WES) and genome (WGS) sequencing now offers ...

BRIC o PFIC?

Gibellato E, Lauriola RS, D'Antiga L

2025/10 — pag. 257-259 — DOI

A 9-year-old boy of Moldovan origin presented to the Emergency Room with jaundice and pruritus persisting for two months. His medical history revealed recurrent, self-limiting episodes and a recent hospitalization in Moldova for hyperbilirubinemia tr...

Bassa statura: tutta colpa del papà

Tornese G.

2025/9 — pag. 598-600 — DOI

A child with slow growth and normal hormonal tests shows distinctive physical features. Clinical exome sequencing reveals a mutation in the IHH gene, inherited from the father, who had initially been overlooked. The child responds very well to growth...

La clinica: quando i geni hanno bisogno di un traduttore

Ferrara A

2025/9 — pag. 243-244 — DOI

The paper reports the case of a 17-year-old boy initially diagnosed with facioscapulohumeral muscular dystrophy, whose clinical course was unexpectedly severe. Despite near-normal CK levels, he showed transient strength improvement after salbutamol. ...

Encefalopatie epilettiche e dello sviluppo: dalla pratica alla genetica, andata e ritorno

Zanus C, Musante L, Faletra F, Carrozzi M, Costa P.

2022/1 — pag. 33-40 — DOI

In the last decades the research on the genetics of epilepsy has greatly expanded, supported by the development of effective next-generation sequencing (NGS) methods. In particular, the studies in Developmental and Epileptic Encephalopathies (DEEs) d...

Quando il disturbo del neurosviluppo ha un substrato genetico: un caso di sindrome di Kleefstra

Sorasio L, Franceschi L, Pavinato L, Peduto A

2021/4 — pag. 114-117 — DOI

Neurodevelopmental disorders (ND) have an important prevalence in children; intellectual disability in particular occurs in a heterogeneous group of genetic conditions. The evolution of molecular cytogenetic techniques and the recent advances in exom...

Implementazione dell’analisi dell’esoma nella pratica clinica: uno studio di fattibilità

A. Aversano

2020/4 — pag. 94-94 — DOI

23%Esoma in urgenza: sogno o son desto?PFAPA in famigliaTimololoParacetamolo e rischio di asma: bufalaIndimenticabile(i)Palivizumab... chi era costui?General acceptance

2016/8 — pag. 487-488

Pediatria 2016: tra povertà ed esomaTacere per amoreDiagnosi eziologica delle infezioni respiratorie: tutto e subitoCorticosteroidi e distrofia muscolare di Duchenne: gioie e doloriCorticosteroide inalatorio e crescitaPancreatite ricorrente e pancreatite cronica: avete visto mai?POTS: tra mito, realtà... e impotenza del pediatra

2016/6 — pag. 349-350

Il bambino con ADHD L'angolo dello Pneumococco. Ovvero: "Perseverare diabolicum" La rivoluzione dell' "esoma" Obesità, grassi nella dieta e... gusto Archimedes e cortisone

2012/10 — pag. 621-622