Epigenesis, Genetic

Diabete mellito di tipo 1 e trapianto di isole pancreatiche

2026/3 — pag. 191 — DOI

Il prezzo umano delle sanzioni Raro, ultrararo, strepitoso: N-of-1 ovvero editing genetico 2.0 sul NEJM Segni di abuso: attenzione a non mancarli Noccioline in volo Come vanno a finire gli emangiomi epatici congeniti. Indimenticabile: sugli Archives Indimenticabili: a Vicenza!

2025/5 — pag. 281-282 — DOI

La sindrome di Silver-Russel

Prada E, Scupilliti S, Selicorni A.

2024/8 — pag. 515-517 — DOI

Inseminazione artificiale: neonato, accertamenti diagnostici Orticaria post-infettiva e vaccino MRPV

2023/8 — pag. 531 — DOI

La sindrome Beckwith-Wiedemann

Prada E, Selicorni A.

2023/7 — pag. 457-459 — DOI

Le masse surrenaliche nella sindrome di Beckwith-Wiedemann: un algoritmo diagnostico

Borraccetti N, Bruno I, Lambertini AG, Casadio L, Radice C, Donati I, Piccinini G, Minguzzi MT, Marchetti F

2021/5 — pag. 333-334 — DOI

Children with Beckwith-Wiedemann syndrome (BWs) have an increased risk of developing embryonic tumours during the first few years of life. Predisposition to the development of tumours is closely related to molecular subtype and therefore the cancer s...

Neonato piccolo, ipotonico, con difficoltà di alimentazione: pensiamo anche alla sindrome di Temple

Dal Bo S, Muratori C, Nardini C, Donati I, Magistà AM, Marchetti F

2021/5 — pag. 138-140 — DOI

Temple syndrome is a rare imprinting disorder mainly due to maternal uniparental disomy of the chromosome 14. It represents the main differential diagnosis of Silver-Russell and Prader-Willi syndrome. This syndrome is characterized by growth retardat...

Le masse surrenaliche nella sindrome di Beckwith-Wiedemann: un algoritmo diagnostico

Borraccetti N, Bruno I, Lambertini AG, Casadio L, Radice C, Donati I, Piccinini G, Minguzzi MT, Marchetti F

2021/5 — pag. 150-153 — DOI

Children with Beckwith-Wiedemann syndrome (BWs) have an increased risk of developing embryonic tumours during the first few years of life. Predisposition to the development of tumours is closely related to molecular subtype and therefore the cancer s...

La sindrome di Beckwith-Wiedemann

A. De Paoli, A. Di Francesco, A. Selicorni

2019/8 — pag. 509-517

Beckwith-Wiedemann syndrome is a multisystemic disease mostly caused by genomic imprinting pattern anomalies of the 11p15.5 region. BWS is characterised by a very wide clinical spectrum starting from the more classical form (overgrowth, macroglossia,...

Il punto sulla sindrome di Silver-Russell dopo il primo Consensus internazionale

G. Patti, N. Di Iorgi, F. Napoli, M. Maghnie

2018/2 — pag. 85-91

Silver-Russell syndrome (SRS) is a heterogeneous syndrome characterised by severe intrauterine and postnatal growth retardation with typical dysmorphic features. SRS is primarily a clinical diagnosis; however molecular testing enables confirmation ...

Ipoglicemia neonatale, emipertrofia e macroglossia: quale diagnosi?

V. Graziani, M. Mainetti, A. Zucchini, M. Poli, A. Sensi, S. Russo, F. Marchetti

2015/1 — pag. 44-49

The paper describes the case of an infant with neonatal hypoglycaemia, hemihyperplasia, and macroglossia and the diagnostic process that leads to the confirmation of Beckwith- Wiedemann syndrome (BWS). BWS is an overgrowth disorder caused by epimut...

Epigenetica: uno sguardo panoramico

2009/6 — pag. 388-390

Dieci anni di pediatria: che cosa è cambiato nella genetica

G. Corsello

2006/6 — pag. 359-364

The recent developments of genetics allow a clearer diagnosis of most of the syndromes and diseases due to defects of the genetic code and of the chromosomal pattern. New techniques such as FISH (Fluorescent in Situ Hybridization) and CGH-microarrays...