Cytogenetic Analysis

Bassa statura non sindromica e ritardo puberale: non solo ritardo costituzionale di crescita e pubertà

Campanile C, Improda N, Incoronato S, Ferrara A, Gentile G, Colantuoni M, Mandato C, Licenziati MR.

2024/9 — pag. 597-600 — DOI

A 14-year-old boy with suspected constitutional delay of growth and puberty (CDGP) presented with short stature, absence of secondary sex characteristics, bone age delayed by one year and family history of CDGP in his mother. The external genitalia w...

Bassa statura non sindromica e ritardo puberale: non solo ritardo costituzionale di crescita e pubertà

Campanile C, Improda N, Incoronato S, Ferrara A, Gentile G, Colantuoni M, Mandato C, Licenziati MR

2024/9 — pag. 171-174 — DOI

A 14-year-old boy with suspected constitutional delay of growth and puberty (CDGP) presented with short stature, absence of secondary sex characteristics, bone age delayed by one year and family history of CDGP in his mother. The external genitalia w...

La sindrome di Klinefelter

Cattoni A, Nicolosi ML, Tarani L, Selicorni A.

2024/3 — pag. 181-183 — DOI

La tecnologia genetica: ciò che ogni pediatra dovrebbe sapere

Mariani M, Cianci P, Cereda A, Maitz A, Giagnacovo M, Modena P, Iascone M, Selicorni A

2021/5 — pag. 291-301 — DOI

Availability of genetic tests has remarkably increased in the last few years. The new technologies offer clinicians new diagnostic opportunities that enable to save time and money in the diagnostic path of patients with possible genetic disease. Also...

Amenorrea primaria e sindrome di Mayer-Rokitansky-Küster-Hauser

F. Corrias

2020/3 — pag. 60-60

Le “basi” (genetiche) dell’obesità

F. Angrisani, M.R. Arienzo

2019/9 — pag. 230-230

Piccola, ma non abbastanza

A. Lavagetto, S. Vignola, P. Gianiorio, G. Ottonello

2019/1 — pag. 47-48

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...

Che cosa deve sapere il pediatra delle malattie rare

A. Ventura, A. Gagliardo, I. Berti, F. Marchetti

2003/5 — pag. 292

Rare diseases constitute a highly eterogeneous category of (mainly genetic) disorders. Even if the individual diseases are rare, due to their global incidence, rare diseases represent both an important cause of morbidity and mortality and a challen...

Dalla clinica alla genetica: il percorso di una famiglia in un caso di sindrome di Rett

2002/5 — pag. 325-326

Report of a case of Rett’s syndrome: the family refused the diagnosis of Rett’s syndrome. Instead, it accepted the diagnosis of mercury neurotoxicity and the relevant treatment. Finally, it accepted the final molecular diagnosis posed by in si...

Ibridazione in situ fluorescente e suoi utilizzi diagnostici in citogenetica

E. Demori, D. Gambel Benussi, A. Luchesi, A. Raccanelli, M. Monticolo, B. Pastore, V. Pacile

2000/1 — pag. 44-46