Neoplasm Proteins

Mutazione del gene PTEN; melanocitosi dermica congenita

2026/1 — pag. 60 — DOI

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 ...

Acondroplasia

Calderara ML, Selicorni A.

2023/1 — pag. 49-51 — DOI

La sindrome di Myhre

Carrer A, Negrello G, Selicorni A.

2022/9 — pag. 593-595 — DOI

Sindrome dello spettro autistico e macrocefalia: la sindrome di Cowden

Iacono A, Parmeggiani G, Mellino C, Moschettini V, Marchetti F.

2022/5 — pag. 330-332 — DOI

The paper reports the story of a 4-year-old boy presenting with macrocephaly and autism spectrum disorder. Genetic testing for an overgrowth syndrome revealed the presence of a heterozygous mutation in the PTEN gene, responsible for Cowden syndrome. ...

Sindrome dello spettro autistico e macrocefalia: la sindrome di Cowden

Iacono A, Parmeggiani G, Mellino C, Moschettini V, Marchetti F

2022/5 — pag. 97-101 — DOI

The paper reports the story of a 4-year-old boy presenting with macrocephaly and autism spectrum disorder. Genetic testing for an overgrowth syndrome revealed the presence of a heterozygous mutation in the PTEN gene, responsible for Cowden syndrome. ...

Rapida evoluzione di una istiocitosi a cellule di Langerhans cutanea isolata

Brusadelli C, Dell’Acqua F, Vendemini F, Ferrari GM, Corti P

2021/7 — pag. 197-200 — DOI

The paper reports the case of a three-month-old girl presenting with maculopapular lesions all over her scalp, trunk, axilla region and groin. One month earlier she had been diagnosed with LCH through skin biopsy for persisting maculopapular rash. No...

Il craniofaringioma

Salce N, Giovannelli E, Graziani V, Cozzolino M, Mazzatenta D, Zucchelli M, Marchetti F

2021/7 — pag. 210-216 — DOI

Craniopharyngioma (CP) is a rare epithelial low-grade tumour that develops in the sellar/suprasellar region of the brain, along the craniopharyngeal duct. It has a bimodal distribution and the first peak occurs in paediatric age almost exclusively co...

Endocrinologia e diabete

Chiarelli F, Faleschini E, Tornese G

2021/26 — pag. 4 — DOI

Linfoma di Burkitt in età pediatrica

Timeus F, Piglione M, Fagioli F, Ravaglia A

2021/6 — pag. 175-184 — DOI

Sporadic Burkitt lymphoma (BL) accounts for about 80% of non-Hodgkin lymphomas in childhood and adolescence, with an incidence of 3-5 cases per million in developed countries. The hallmark of LB is the deregulation of MYC oncogene, usually caused by ...

Sindrome di Costello

C. Leoni, P. Cianci, G. Zampino, A. Selicorni

2019/6 — pag. 383-386

La sindrome del carcinoma nevoide a cellule basali o sindrome di Gorlin-Goltz

A. Agrusti

2018/3 — pag. 184-185

Lo spettro delle manifestazioni legate alla mutazione del gene PTEN

V. Graziani, S. Dal Bo, A. Sensi, C. Rossi, L. Vignutelli, L. Berretti, F. Marchetti

2017/5 — pag. 303-308

Mutations of tumour suppressor gene PTEN (Phosphatase and Tensin homologue deleted on chromosome 10) predispose to phenotypically diverse disorders, with several overlapping clinical features, collectively classified as PTEN hamartoma tumour syndro...

Dal pubarca a una sindrome genetica:diagnosi di una malattia rara

E. Benelli, N. Giurici, A. Ventura, M. Rabusin

2017/2 — pag. 107-112

The paper reports the case of a 2-year-old child presenting with pubarche, clitoromegaly and seborrhoea. Her past medical history was unremarkable and no other abnormal sign was found at the physical exam. Karyotype was normal 46 XX. Because of the...

PTEN, un’incredibile variabilità di espressione

M.C. Pellegrin, M. Mariani, S. Maitz, F. Bertola, A. Selicorni

2016/7

Quando la genetica ti cambia le carte in tavola

M. Pasetti, F. Crosti, S. Maitz, C. Fossati, V. D’Apolito, A. Selicorni

2016/7

Isolati, multipli, ereditari: le tante facce dei polipi intestinali

C. Pierobon, M. Flammini, V. Moressa, S. Martelossi, A. Ventura

2015/1 — pag. 16-24

This article provides a critical review of the clinical presentation, pathology, genetics and management of the polyposis in childhood starting from the isolated juvenile polyp to the hereditary polyposis syndromes. These include the juvenile polyp...

Mai nominare il reflusso gastroesofageo Farmacogenomica e terapie personalizzate: il caso dell’istiocitosi di Langerhans Il bacio della mamma al vaglio della Evidence Based Medicine Norovirus Pistols (senza sex) Si può ipnotizzare l’intestino? Antibiotico nella rinosinusite: no, sì, ni

2013/4 — pag. 215-216

Non sempre epistassi ed ecchimosi indicano una porpora

G. Sanna, D. Ticca, V. Manca, L. Buono

2012/7

Era il suo destino

A. Guala, G. Ballardini, P. Angellotti

2011/5 — pag. 328

L’apoptosi nella fisiologia e nella patologia umana

T. Not, E. Buratti, I. Berti, C. Trevisiol, E. Neri, A. Tommasini

1998/4 — pag. 251-254