Giovannoni I - Search Results

1

Bile salt export pump deficiency: A de novo mutation in a child compound heterozygous for ABCB11. Laboratory investigation to study pathogenic role and transmission of two novel ABCB11 mutations.

Francalanci P, Giovannoni I, Candusso M, Bellacchio E, Callea F. Francalanci P, et al. Among authors: giovannoni i. Hepatol Res. 2013 Mar;43(3):315-9. doi: 10.1111/j.1872-034X.2012.01061.x. Hepatol Res. 2013. PMID: 23437912

2

Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.

Giovannoni I, Santorelli FM, Candusso M, Di Rocco M, Bellacchio E, Callea F, Francalanci P. Giovannoni I, et al. Dig Liver Dis. 2011 Jul;43(7):567-70. doi: 10.1016/j.dld.2011.03.004. Epub 2011 Apr 21. Dig Liver Dis. 2011. PMID: 21514256

3

Glycogenotic hepatocellular carcinoma with glycogen-ground-glass hepatocytes: histological, histochemical and microbiochemical characterization of the novel variant.

Callea F, Giovannoni I, Stefanelli M, Villanacci V, Lorini G, Francalanci P. Callea F, et al. Among authors: giovannoni i. Histopathology. 2012 May;60(6):1010-2. doi: 10.1111/j.1365-2559.2011.04168.x. Epub 2012 Feb 9. Histopathology. 2012. PMID: 22321151 No abstract available.

4

Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency.

Giovannoni I, Terracciano A, Gennari F, David E, Francalanci P, Santorelli FM. Giovannoni I, et al. Hepatol Res. 2012 Mar;42(3):327-31. doi: 10.1111/j.1872-034X.2011.00925.x. Hepatol Res. 2012. PMID: 22364601

5

Reply from the authors.

Giovannoni I, Francalanci P, Santorelli FM. Giovannoni I, et al. Hepatol Res. 2012 Nov;42(11):1153. doi: 10.1111/j.1872-034X.2012.01053.x. Hepatol Res. 2012. PMID: 23094857 No abstract available.

6

Alpha-1-antitrypsin deficiency: from genoma to liver disease. PiZ mouse as model for the development of liver pathology in human.

Giovannoni I, Callea F, Stefanelli M, Mariani R, Santorelli FM, Francalanci P. Giovannoni I, et al. Liver Int. 2015 Jan;35(1):198-206. doi: 10.1111/liv.12504. Epub 2014 Mar 11. Liver Int. 2015. PMID: 24529185

7

Malignant pheochromocytoma in a 16-year-old patient with neurofibromatosis type 1.

Giovannoni I, Callea F, Boldrini R, Inserra A, Cozza R, Francalanci P. Giovannoni I, et al. Pediatr Dev Pathol. 2014 Mar-Apr;17(2):126-9. doi: 10.2350/13-10-1397-CR.1. Epub 2014 Feb 20. Pediatr Dev Pathol. 2014. PMID: 24555864

8

Naevoid basal cell carcinoma syndrome in a 22-month-old child presenting with multiple basal cell carcinomas and a fetal rhabdomyoma.

Diociaiuti A, Inserra A, De Vega IF, Rota C, Surrenti T, Giraldi L, Piemontese MR, Giovannoni I, Callea F, El Hachem M. Diociaiuti A, et al. Among authors: giovannoni i. Acta Derm Venereol. 2015 Feb;95(2):243-4. doi: 10.2340/00015555-1892. Acta Derm Venereol. 2015. PMID: 24816767 Free article. No abstract available.

9

Hepatic fibrinogen storage disease due to the fibrinogen γ375 Arg → Trp mutation "fibrinogen Aguadilla" is present in Arabs.

Al-Hussaini A, Altalhi A, El Hag I, AlHussaini H, Francalanci P, Giovannoni I, Callea F. Al-Hussaini A, et al. Among authors: giovannoni i. Saudi J Gastroenterol. 2014 Jul-Aug;20(4):255-61. doi: 10.4103/1319-3767.136985. Saudi J Gastroenterol. 2014. PMID: 25038212 Free PMC article.

10

Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.

Giovannoni I, Callea F, Travaglini L, Amodeo A, Cogo P, Secinaro A, Bizzarri C, Cutrera R, El Hachem M, Francalanci P. Giovannoni I, et al. Eur J Pediatr. 2014 Dec;173(12):1735-40. doi: 10.1007/s00431-014-2447-7. Epub 2014 Nov 1. Eur J Pediatr. 2014. PMID: 25367056

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