Gene Expression Regulation

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

Il neuroblastoma nel lattante: una neoplasia dalle molteplici possibili presentazioni

Marzari L, Patui M, Cogo P

2025/4 — pag. 101-102 — DOI

A 5-month-old infant was brought to the Paediatric Emergency Room with non-specific symptoms: irritability, poor feeding, weight loss and tachycardia. Clinical evaluation revealed severe hypertension and a large abdominal mass suggestive of neuroblas...

La rappresentazione materna e lo sviluppo delle cure tra istinto e intervento del pediatra

Montini T

2025/4 — pag. 77-80 — DOI

This article explores motherhood as a complex combination of emotions and behaviours, influenced by biological, genetic and environmental factors. It highlights how the predisposition to motherhood is genetically present but activated and shaped by e...

Le responsabilità dei padri: oltre il gene!

Greco L, Maiuri P.

2025/3 — pag. 165-169 — DOI

It is customary to think that fathers participate in the fertilization of the egg by releasing only the genetic DNA contained in the head of the sperm. The fertilized oocyte then expels the mitochondria of paternal origin, giving only to the mother t...

Il mistero del seme paterno ovvero la responsabilità dei padri

Greco L.

2025/3 — pag. 144 — DOI

La sindrome di Silver-Russel

Prada E, Scupilliti S, Selicorni A.

2024/8 — pag. 515-517 — DOI

Disturbi dello spettro autistico: fenotipi, genotipi, marcatori e prospettive terapeutiche

Marini M

2024/6 — pag. 104-115 — DOI

This paper takes stock of the current knowledge on the subject of autism spectrum disorders in a fairly detailed way and with relatively simple language. It highlights the main knowledge and concepts shared by the scientific community, which has rece...

Come la ricerca deve guidare le scelte terapeutiche nel trattamento dei disturbi dello spettro autistico

Carucci S.

2024/6 — pag. 98-100 — DOI

Un breve ma completo commento sull'articolo di questo numero che fa il punto sul disturbo dello spettro autistico....

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

A proposito di... bambini cattivi

Albizzati A.

2023/1 — pag. 8 — 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,...

L’etica delle molecole

2018/10 — pag. 625

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

Il Neuroblastoma (parte seconda)

G. Bartolozzi

2007/8

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...