Phenotype

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...

La Pediatria davanti alla sfida della Medicina di precisione

Biondi A

2021/1 — pag. 7-8 — DOI

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...

Asma prescolare Fenotipi e trattamento

2018/9 — pag. 597

Non-atopic persistent asthma Ginocchio varo, plantari Richiami del vaccino per la varicella.

2018/7 — pag. 465

La sindrome di Cornelia de Lange

V. Decimi, A. Cereda, M. Mariani, L. Bettini, A. Selicorni

2016/6 — pag. 373-380

Which are the distinctive features of Cornelia de Lange syndrome? When should it be suspected? Which of these features are of interest for a paediatrician who assists a young patient with this syndrome? Which tools can the paediatrician use in orde...

La sindrome del “Cri du chat”: qualche novità per una “vecchia” sindrome

M. Spunton, M.E. Liverani, P. Cerruti Mainardi, S. Cavani, M. Malacarne, C. Baldo, M. Pierluigi, A. Guala

2015/5 — pag. 306-312

“Cri du chat” syndrome (CdC, OMIM 123450) is classified among the rare diseases. It was described for the first time in 1963 and it is due to a deletion in the short arm of chromosome 5 (in about 90% of cases as a result of a sporadic “de novo” del...

Cosa deve sapere il pediatra delle sindromi

A. Selicorni

2013/2 — pag. 114-115

Epigenetica: uno sguardo panoramico

2009/6 — pag. 388-390

Una bambina in cattedra

M. Anima

2007/7

Fibrosi cistica atipica

C. Castellani

2006/3 — pag. 155-173

In recent years the ability to detect cystic fibrosis (CF) mutations has greatly expanded the clinical spectrum of the disease. In a rising number of patients an atypical, usually mild phenotype is found; in others a single clinical feature predomina...

Le malattie mitocondriali

M. Carrozzi

2005/1 — pag. 8

Anemia di Fanconi con fenotipo normale

2003/4 — pag. 258

Fanconi anemia is a rare disease, with normal phenotype in a third of the cases. It is characterized by aplastic anemia/pancytopenia, macrocytosis and chromosomal abnormality, which is responsible of the high risk of cancer...

Fibrosi cistica: dal gene alla pratica

L. Giglio, D. Faraguna

1999/1 — pag. 21-25

The identification of CF gene prompted several advances in the understanding of the disease, as well as practical improvements in the diagnosis. New perspectives are also open with respect to screening programs and therapeutic implications. At pres...