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46 results

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Page 1
126 novel mutations in Italian patients with neurofibromatosis type 1.
Bianchessi D, Morosini S, Saletti V, Ibba MC, Natacci F, Esposito S, Cesaretti C, Riva D, Finocchiaro G, Eoli M. Bianchessi D, et al. Among authors: cesaretti c. Mol Genet Genomic Med. 2015 Jul 7;3(6):513-25. doi: 10.1002/mgg3.161. eCollection 2015 Nov. Mol Genet Genomic Med. 2015. PMID: 26740943 Free PMC article.
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Melloni G, Eoli M, Cesaretti C, Bianchessi D, Ibba MC, Esposito S, Scuvera G, Morcaldi G, Micheli R, Piozzi E, Avignone S, Chiapparini L, Pantaleoni C, Natacci F, Finocchiaro G, Saletti V. Melloni G, et al. Among authors: cesaretti c. Cancers (Basel). 2019 Nov 21;11(12):1838. doi: 10.3390/cancers11121838. Cancers (Basel). 2019. PMID: 31766501 Free PMC article.
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
Tritto V, Bettinaglio P, Mangano E, Cesaretti C, Marasca F, Castronovo C, Bordoni R, Battaglia C, Saletti V, Ranzani V, Bodega B, Eoli M, Natacci F, Riva P. Tritto V, et al. Among authors: cesaretti c. Hum Genet. 2024 Jun;143(6):775-795. doi: 10.1007/s00439-024-02683-0. Epub 2024 Jun 14. Hum Genet. 2024. PMID: 38874808 Free PMC article.
CATSHL syndrome, a new family and phenotypic expansion.
Cannova S, Meossi C, Grilli F, Milani D, Alberti F, Cesaretti C, Marchisio PG, Crosti F, Pezzani L. Cannova S, et al. Among authors: cesaretti c. Clin Genet. 2024 Mar;105(3):313-316. doi: 10.1111/cge.14455. Epub 2023 Nov 22. Clin Genet. 2024. PMID: 37990933 Free article.
New insights into the molecular basis of spinal neurofibromatosis type 1.
Bettinaglio P, Mangano E, Tritto V, Bordoni R, Paterra R, Borghi A, Volontè M, Battaglia C, Saletti V, Cesaretti C, Natacci F, Melone MAB, Eoli M, Riva P. Bettinaglio P, et al. Among authors: cesaretti c. Eur J Hum Genet. 2023 Aug;31(8):931-938. doi: 10.1038/s41431-023-01377-x. Epub 2023 May 22. Eur J Hum Genet. 2023. PMID: 37217626 Free PMC article.
Breast density in NF1 women: a retrospective study.
De Santis R, Cagnoli G, Rinaldi B, Consonni D, Conti B, Eoli M, Liguori A, Cosentino M, Carrafiello G, Garrone O, Giroda M, Cesaretti C, Sfondrini MS, Gambini D, Natacci F. De Santis R, et al. Among authors: cesaretti c. Fam Cancer. 2024 Mar;23(1):35-40. doi: 10.1007/s10689-023-00355-y. Epub 2024 Jan 25. Fam Cancer. 2024. PMID: 38270845 Free PMC article.
CTNND1-Related Disorder: New Insight on Prenatal Phenotype.
Conti B, Di Napoli C, Hafdaoui S, Nicotra V, Cesaretti C, Runza L, Accurti V, Boito S, Iascone M, Marchetti D, Silipigni R, Finelli P, Natacci F. Conti B, et al. Among authors: cesaretti c. Am J Med Genet A. 2025 Mar;197(3):e63921. doi: 10.1002/ajmg.a.63921. Epub 2024 Nov 1. Am J Med Genet A. 2025. PMID: 39487033 Free article.
46 results