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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.
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
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.
Gentilin B, Forzano F, Bedeschi MF, Rizzuti T, Faravelli F, Izzi C, Lituania M, Rodriguez-Perez C, Bondioni MP, Savoldi G, Grosso E, Botta G, Viora E, Baffico AM, Lalatta F. Gentilin B, et al. Among authors: rizzuti t. Ultrasound Obstet Gynecol. 2010 Sep;36(3):315-23. doi: 10.1002/uog.7761. Ultrasound Obstet Gynecol. 2010. PMID: 20812307 Free article.
36 results