Genetics

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...

Corto come il papà

G. Tornese

2019/7 — pag. 431-437

Familial short stature is the second cause of short stature immediately after constitutional delay of growth and puberty. So far, in case of familiarity for short stature, regular growth velocity, bone age compatible with chronological age, the ind...

La falsa sicurezza dell’amniocentesi

F. Marolla

2014/1 — pag. 49-51

Un bambino Fragile

A. Baio

2013/9 — pag. 595-596

Il retinoblastoma

A. D’Ambrosio, G. Coriolani, M. Caini, D. Galimberti, S. Giomi, S. Badii, S. Moretti, M.S. Toti, F. Coccina, F. Carra, T. Hadjistilianou

2013/4 — pag. 227-236

Retinoblastoma is the most frequently diagnosed intraocular malignancy in infants. Recently, there have been significant advances in the management of this disease. New therapeutic strategies, such as superselective intra-arterial chemotherapy and ...

Genetica, Immunologia, Infezione

F. Panizon

2011/7

Malattia di Charcot-Marie-Tooth

P. Fioretti, R. Camozzato

2010/6 — pag. 395-396

Genetica ed epigenetica dell'obesità

F. Panizon

2009/7 — pag. 431-439

Obesity is, first of all, a matter of genetics and it better develops in conditions of more food availability and sedentary lives as it occurs in rich countries. The control of the energetic balance (intake > accumulation > dispersion) is connected...

Autismo e spettro autistico

P. Curatolo

2004/10 — pag. 621-629

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...

Malattie cutanee autoimmuni e genoma

V. Leone, F. Panizon

2003/4 — pag. 235-241

Some auto-immune skin diseases are heritable. The most common among these is psoriasis, which has an incidence of 15% if one parent is affected and of 50% if both parents are affected. Six loci (PSORS 1 to 6) are involved, and the main one (PSORS 1...

PELLE & DNALa cute, tra ecologia e genetica

F. Panizon, V. Leone

2003/4 — pag. 221-232

Skin diseases are categorised according to their genetic characteristics and to the main functions of the skin: as a barrier against infectious agents, as a regulator of the water and thermal exchanges with the outside, as a mechanical protection a...

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...

Febbre periodica ereditaria (Parte seconda)

G. Bartolozzi

2002/2

“Homo est quod est”

L. D. Notarangelo

2000/4 — pag. 212