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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Pirozzi F, Berkseth M, Shear R, Gonzalez L, Timms AE, Sulc J, Pao E, Oyama N, Forzano F, Conti V, Guerrini R, Doherty ES, Saitta SC, Lockwood CM, Pritchard CC, Dobyns WB, Novotny E, Wright JNN, Saneto RP, Friedman S, Hauptman J, Ojemann J, Kapur RP, Mirzaa GM. Pirozzi F, et al. Brain. 2022 Apr 29;145(3):925-938. doi: 10.1093/brain/awab376. Brain. 2022. PMID: 35355055 Free PMC article.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H. Polla DL, et al. Among authors: pirozzi f. Genet Med. 2021 Jul;23(7):1246-1254. doi: 10.1038/s41436-021-01133-w. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824500 Free PMC article.
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Pirozzi F, Lee B, Horsley N, Burkardt DD, Dobyns WB, Graham JM Jr, Dentici ML, Cesario C, Schallner J, Porrmann J, Di Donato N, Sanchez-Lara PA, Mirzaa GM. Pirozzi F, et al. Am J Med Genet A. 2021 Sep;185(9):2719-2738. doi: 10.1002/ajmg.a.62362. Epub 2021 Jun 4. Am J Med Genet A. 2021. PMID: 34087052 Free PMC article. Review.
Intraoperative left-sided colorectal anastomotic testing in clinical practice: a multi-treatment machine-learning analysis of the iCral3 prospective cohort.
Catarci M, Guadagni S, Masedu F, Guercioni G, Ruffo G, Viola MG, Borghi F, Scatizzi M, Patriti A, Baiocchi GL; Italian ColoRectal Anastomotic Leakage (iCral) study group. Catarci M, et al. Updates Surg. 2024 May 20. doi: 10.1007/s13304-024-01883-7. Online ahead of print. Updates Surg. 2024. PMID: 38767835
Methylmalonic acidemia triggers lysosomal-autophagy dysfunctions.
Costanzo M, Cevenini A, Kollipara L, Caterino M, Bianco S, Pirozzi F, Scerra G, D'Agostino M, Pavone LM, Sickmann A, Ruoppolo M. Costanzo M, et al. Among authors: pirozzi f. Cell Biosci. 2024 May 17;14(1):63. doi: 10.1186/s13578-024-01245-1. Cell Biosci. 2024. PMID: 38760822 Free PMC article.
Bowel preparation for elective colorectal resection: multi-treatment machine learning analysis on 6241 cases from a prospective Italian cohort.
Catarci M, Guadagni S, Masedu F, Ruffo G, Viola MG, Borghi F, Garulli G, Pirozzi F, Delrio P, De Luca R, Baldazzi G, Scatizzi M; Italian ColoRectal Anastomotic Leakage (iCral) study group. Catarci M, et al. Among authors: pirozzi f. Int J Colorectal Dis. 2024 Apr 16;39(1):53. doi: 10.1007/s00384-024-04627-6. Int J Colorectal Dis. 2024. PMID: 38625550 Free PMC article.
184 results