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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
Furlan F, Rovelli A, Rigoldi M, Filocamo M, Tappino B, Friday D, Gasperini S, Mariani S, Izzi C, Bondioni MP, Gellera C, Venerando A, Villa N, Del Carmen Rodriguez Perez M, Pavan F, Biondi A, Parini R. Furlan F, et al. Among authors: izzi c. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):128. doi: 10.1186/s13052-018-0566-x. Ital J Pediatr. 2018. PMID: 30442200 Free PMC article.
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: izzi c. Ultrasound Obstet Gynecol. 2010 Sep;36(3):315-23. doi: 10.1002/uog.7761. Ultrasound Obstet Gynecol. 2010. PMID: 20812307 Free article.
Prenatal ultrasound diagnosis of cavitation of ganglionic eminence.
Prefumo F, Petrilli G, Palumbo G, Sartori E, Izzi C, Pinelli L. Prefumo F, et al. Among authors: izzi c. Ultrasound Obstet Gynecol. 2019 Oct;54(4):558-560. doi: 10.1002/uog.20236. Ultrasound Obstet Gynecol. 2019. PMID: 30740797 Free article. No abstract available.
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA. Handley MT, et al. Among authors: izzi c. Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296. Hum Mutat. 2013. PMID: 23420520
Fetal abdominal wall defects.
Prefumo F, Izzi C. Prefumo F, et al. Among authors: izzi c. Best Pract Res Clin Obstet Gynaecol. 2014 Apr;28(3):391-402. doi: 10.1016/j.bpobgyn.2013.10.003. Epub 2013 Dec 3. Best Pract Res Clin Obstet Gynaecol. 2014. PMID: 24342556 Review.
[Molecular diagnosis of ADPKD].
Scolari F, Savoldi G, Mazza C, Izzi C. Scolari F, et al. Among authors: izzi c. G Ital Nefrol. 2016 Sep-Oct;33(5):gin/33.5.16. G Ital Nefrol. 2016. PMID: 27796017 Italian.
77 results