uniparental disomy

La sindrome di Silver-Russel

Prada E, Scupilliti S, Selicorni A.

2024/8 — pag. 515-517 — 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...

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 ...

Sindrome di Beckwith-Wiedemann: un caso da ricordare

I. Coco, F. Moscuzza, L. Coccoli, F. Dini, A. Boldrini, P. Ghirri

2013/3

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...

Gli stretti rapporti tra pediatra e genetista

P. Gasperini

2006/6 — pag. 347-350

Segnalazione di un caso di diabete neonatale

G. Dioguardi, G. Ricciar, G. Micelisopo, A. Gallo, A. M. D'Antonio, M. De Vivo, A. Palermo

2006/4

Segnalazione di un caso di diabete neonatale

G. Dioguardi, G. Ricciardi, G. Micelisopo, A. Gallo, AM. D’Antonio, M. De Vivo, A. Palermo

2006/4 — pag. 257-258

Detection of diabetes during neonatal age is very infrequent. Nonetheless early diagnosis is crucial since if not promptly treated with insuline, neonatal diabetes (ND) has a critical course. We report the case of a female neonate, born with birth w...