Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Tumor Suppressor Protein p53

Amino Acids, Peptides, and Proteins Proteins Carrier Proteins Poly-ADP-Ribose Binding Proteins Tumor Suppressor Protein p53

2 articoli — 2017-2023

RI Problemi speciali
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 ...

RI Percorsi clinici
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...

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Puberty, Precocious (45) Neoplasms (44) Genetic Predisposition to Disease (25) Neurofibromatosis 1 (23) Hematopoietic stem cell transplantation (19) Genetic Counseling (19) Adrenal Gland Neoplasms (14) Surveillance (14) High-Throughput Nucleotide Sequencing (13) Sorveglianza (10) Genetic syndrome (8) Sindrome genetica (8) Virilism (7) Trapianto di cellule staminali ematopoietiche (6) Monitoraggio (6) premature pubarche (4) virilizzazione (4) virilization (4) Neoplastic Syndromes, Hereditary (4) pubarca prematuro (4)