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Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.
Magini P, Palombo F, Boito S, Lanzoni G, Mongelli P, Rizzuti T, Baccarin M, Pippucci T, Seri M, Lalatta F. Magini P, et al. Among authors: rizzuti t. Am J Med Genet A. 2016 Dec;170(12):3258-3264. doi: 10.1002/ajmg.a.37873. Epub 2016 Sep 9. Am J Med Genet A. 2016. PMID: 27612164
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Vetro A, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O. Vetro A, et al. Among authors: rizzuti t. Hum Mutat. 2015 May;36(5):562-8. doi: 10.1002/humu.22784. Epub 2015 Apr 7. Hum Mutat. 2015. PMID: 25754594
Prenatal and postnatal findings in five cases of Fryns syndrome.
Peron A, Bedeschi MF, Fabietti I, Baffero GM, Fogliani R, Ciralli F, Mosca F, Rizzuti T, Leva E, Lalatta F. Peron A, et al. Among authors: rizzuti t. Prenat Diagn. 2014 Dec;34(12):1227-30. doi: 10.1002/pd.4447. Epub 2014 Jul 22. Prenat Diagn. 2014. PMID: 24996149 No abstract available.
SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis.
Fiandrino G, Arossa A, Ghirardello S, Kalantari S, Rossi C, Bonasoni MP, Cesari S, Rizzuti T, Giorgio E, Bassanese F, Scatigno AL, Meroni A, Melito C, Feltri M, Longo S, Figar TA, Andorno A, Gelli MC, Bertozzi M, Spinillo A, Riccipetitoni G, Valente EM, Paulli M, Sirchia F. Fiandrino G, et al. Among authors: rizzuti t. Placenta. 2022 Aug;126:119-124. doi: 10.1016/j.placenta.2022.06.011. Epub 2022 Jun 30. Placenta. 2022. PMID: 35796063
Thomas syndrome: clinical variability and autosomal recessive inheritance.
Briscioli V, Lalatta F, Rizzuti T, Fesslová V. Briscioli V, et al. Among authors: rizzuti t. Am J Med Genet. 1997 Aug 22;71(3):373-4. doi: 10.1002/(sici)1096-8628(19970822)71:3<373::aid-ajmg23>3.0.co;2-g. Am J Med Genet. 1997. PMID: 9268113 No abstract available.
36 results