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Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
Bonatti F, Adorni A, Matichecchia A, Mozzoni P, Uliana V, Pisani F, Garavelli L, Graziano C, Gnoli M, Carli D, Bigoni S, Boschi E, Martorana D, Percesepe A. Bonatti F, et al. Among authors: carli d. Int J Mol Sci. 2017 Sep 29;18(10):2071. doi: 10.3390/ijms18102071. Int J Mol Sci. 2017. PMID: 28961165 Free PMC article.
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5).
Innella G, Greco D, Carli D, Magini P, Giorgio E, Galesi O, Ferrero GB, Romano C, Brusco A, Graziano C. Innella G, et al. Among authors: carli d. Am J Med Genet A. 2021 Feb;185(2):608-613. doi: 10.1002/ajmg.a.62001. Epub 2020 Dec 9. Am J Med Genet A. 2021. PMID: 33296143 Free article. No abstract available.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
Pavinato L, Villamor-Payà M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M, Arauz-Garofalo G, Ciolfi A, Bruselles A, Pippucci T, Prota V, Carli D, Giorgio E, Radio FC, Antona V, Giuffrè M, Ranguin K, Colson C, De Rubeis S, Dimartino P, Buxbaum JD, Ferrero GB, Tartaglia M, Martinelli S, Stracker TH, Brusco A. Pavinato L, et al. Among authors: carli d. J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323470 Free PMC article.
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Riva M, Martorana D, Uliana V, Caleffi E, Boschi E, Garavelli L, Ponti G, Sangiorgi L, Graziano C, Bigoni S, Rocchetti LM, Madeo S, Soli F, Grosso E, Carli D, Goldoni M, Pisani F, Percesepe A. Riva M, et al. Among authors: carli d. Genes Chromosomes Cancer. 2022 Jan;61(1):10-21. doi: 10.1002/gcc.22997. Epub 2021 Sep 3. Genes Chromosomes Cancer. 2022. PMID: 34427956 Free PMC article.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Carli D, Operti M, Russo S, Cocchi G, Milani D, Leoni C, Prada E, Melis D, Falco M, Spina J, Uliana V, Sara O, Sirchia F, Tarani L, Macchiaiolo M, Cerrato F, Sparago A, Pignata L, Tannorella P, Cardaropoli S, Bartuli A, Riccio A, Ferrero GB, Mussa A. Carli D, et al. Clin Genet. 2022 Oct;102(4):314-323. doi: 10.1111/cge.14193. Epub 2022 Jul 21. Clin Genet. 2022. PMID: 35842840 Free PMC article.
105 results