Human Genetics

Ittero neonatale prolungato: a volte è solo questione di tempo

Roncareggi S, Evasi V, Condò M, Bellù R, Motta M.

2026/3 — pag. 188-190 — DOI

HF is a full-term newborn, third child of consanguineous parents from Bangladesh. In good general health at birth, she developed significant hyperbilirubinemia within the first 48 hours of life and required phototherapy (PT), with a total of nine tre...

Diagnosi e gestione precoce del neonato con familiarità per disordine congenito dell'immunità

Laudante U, Falco G, Ferrandino C, Romano AC, Turchetti F, Romano R, Giardino G

2026/1 — pag. 23-23 — DOI

This study examines the role of early diagnosis in managing inborn errors of immunity, which are often characterised by early onset and high mortality. By analysing data from 15 patients with a positive family history, the research evaluated the util...

Guardare oltre il tumore: le cancer-predisposing syndrome in età pediatrica

Bettini LR, Lauriola RS, Vendemini F, Coliva T, Biondi A, Cazzaniga G.

2023/4 — pag. 237-241 — DOI

About 10% of children with cancer carry a pathogenic mutation in genes predisposing to tumourigenesis. These mutations are being identified more and more frequently thanks to the use of next-generation sequencing techniques in the diagnostic work-up ...

Quando l’amnios si rompe troppo presto e… da solo

Serra G, Antona V, Corsello A, Li Pomi F, La Bianca MR, Corsello G.

2022/6 — pag. 387-389 — DOI

Rupture of the amniochorionic membranes is a recognized risk factor in the second and third trimester for chorioamnionitis, sepsis and preterm delivery. The isolated rupture of amnion is conversely responsible for a malformation spectrum known as ear...

Il bambino con eccesso di crescita tra variabilità clinica ed eterogeneità genetica

G. Serra, M. Schierz, V. Antona, C.F. Giardina, M. Giuffrè, E. Piro, G. Corsello

2020/4 — pag. 243-248

Either in the newborn or in the child overgrowth can be generalized or localized if it is limited to one or more body regions. When overgrowth depends on a metabolic imbalance, or it is constitutional, the excessive growth can be the only clinical si...

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,...

Una rara lombalgia

M.C. Pellegrin, C. Fossati, M.G. Dell’Orto, C. Giussani, A. Selicorni

2016/2

Approccio metodologico “di base” al bambino con sospetta sindrome malformativa

P. Cianci, F. Zanetto, A. Biolchini, A. Selicorni

2016/1 — pag. 27-33

The diagnosis of a genetic syndrome is very important in the life of a child and of their family for various reasons. Thus, paediatricians should be alert because the possible starting manifestations of a syndrome are really very different and vari...

La falsa sicurezza dell’amniocentesi

F. Marolla

2014/1 — pag. 49-51

Linfoistiocitosi emofagocitica: una sfida diagnostica per il pediatra

E. Sieni, V. Cetica, M. Aricò

2012/1 — pag. 21-29

Haemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome caused by uncontrolled but ineffective immune response. Inherited human disorders causing the defect of selected proteins involved in the cellular cytotoxicity machinery...

Genetica, Immunologia, Infezione

F. Panizon

2011/7

Noè, Stocastica e la fibrosi cistica

B.M. Assael

2011/3 — pag. 182-184

La fibrosi cistica, lo screening neonatalee lo screening del portatore Intervista a Carlo Castellani

2011/3 — pag. 180-181

Noi, quelli delle malattie rareIntervista a Margherita De Bac

2010/7 — pag. 455-456

Una gambina più grossa

M.G. Scala, M. Mayer

2010/1 — pag. 55-56

The Authors describe a case of isolated hemihyperplasia (HHI) diagnosed on a three-month-old female child. During a visit at our pediatric surgery disproportion of the limbs was noticed, so the child was sent to genetic counselling. HHI diagnosis...

Talassemia e bambini non natiCure semi-intensive e bisogni di salute inevasiFluoro nelle falde acquifere

2009/1 — pag. 13-15

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

Gen-Etica: di chi sono i geni?

B. Dallapiccola

2003/9 — pag. 575-580

The Author offers an overview of all the main ethical issues related to the recent advances of genetics. Special attention is paid to the following: options in assisted fertilization, recent developments in our understanding of genetic basis of dis...

Paolo Durand

M&B

2003/6 — pag. 351-352

Uno sguardo dal ponte

F. Panizon

2002/1 — pag. 7

Il pediatra e il DNA

L. D. Notarangelo

2000/9 — pag. 552

Il trattamento delle cheilognatoschisi

G. Gatti, D. Gandini, A. Massei

1997/4 — pag. 222-227

This is a review article on the treatment of cleft palate particularly devoted to stress the importance of a multidisciplinary approach. In Italy, the overall incidence of the different forms of cleft palate is 1:830 newborns. Cleft palate may b...