Bellacchio E - Search Results

1

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency.

Callea F, Giovannoni I, Francalanci P, Boldrini R, Faa G, Medicina D, Nobili V, Desmet VJ, Ishak K, Seyama K, Bellacchio E. Callea F, et al. Among authors: bellacchio e. Orphanet J Rare Dis. 2018 May 16;13(1):79. doi: 10.1186/s13023-018-0821-7. Orphanet J Rare Dis. 2018. PMID: 29769092 Free PMC article.

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. Among authors: bellacchio e. 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

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: bellacchio e. Hepatol Res. 2013 Mar;43(3):315-9. doi: 10.1111/j.1872-034X.2012.01061.x. Hepatol Res. 2013. PMID: 23437912

4

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

Giovannoni I, Callea F, Bellacchio E, Torre G, De Ville De Goyet J, Francalanci P. Giovannoni I, et al. Among authors: bellacchio e. PLoS One. 2015 Dec 17;10(12):e0145021. doi: 10.1371/journal.pone.0145021. eCollection 2015. PLoS One. 2015. PMID: 26678486 Free PMC article.

5

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia.

Callea M, Bellacchio E, Fattori F, Bertini E, Callea F, Cammarata-Scalisi F. Callea M, et al. Among authors: bellacchio e. Leuk Lymphoma. 2016 Sep;57(9):2189-91. doi: 10.3109/10428194.2015.1115030. Epub 2015 Dec 24. Leuk Lymphoma. 2016. PMID: 26700323 No abstract available.

6

Blood malignancies presenting with mutations at equivalent residues in RUNX1-2 suggest a common leukemogenic pathway.

Callea M, Fattori F, Bertini ES, Cammarata-Scalisi F, Callea F, Bellacchio E. Callea M, et al. Among authors: bellacchio e. Leuk Lymphoma. 2017 Aug;58(8):2002-2004. doi: 10.1080/10428194.2016.1274980. Epub 2017 Jan 16. Leuk Lymphoma. 2017. PMID: 28093006 No abstract available.

7

A novel fibrinogen gamma chain mutation (c.1096C>G; p.His340Asp), fibrinogen Ankara, causing hypofibrinogenaemia and hepatic storage.

Callea F, Giovannoni I, Sari S, Aksu AU, Esendagly G, Dalgic B, Boldrini R, Akyol G, Francalanci P, Bellacchio E. Callea F, et al. Among authors: bellacchio e. Pathology. 2017 Aug;49(5):534-537. doi: 10.1016/j.pathol.2017.03.007. Epub 2017 Jun 30. Pathology. 2017. PMID: 28673429 No abstract available.

8

Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage.

Callea F, Giovannoni I, Sari S, Guldal E, Dalgic B, Akyol G, Sogo T, Al-Hussaini A, Maggiore G, Bartuli A, Boldrini R, Francalanci P, Bellacchio E. Callea F, et al. Among authors: bellacchio e. Int J Mol Sci. 2017 Dec 15;18(12):2717. doi: 10.3390/ijms18122717. Int J Mol Sci. 2017. PMID: 29244742 Free PMC article.

9

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

Radio FC, Di Meglio L, Agolini E, Bellacchio E, Rinelli M, Toscano P, Boldrini R, Novelli A, Di Meglio A, Dallapiccola B. Radio FC, et al. Among authors: bellacchio e. Mol Genet Genomic Med. 2018 May;6(3):446-451. doi: 10.1002/mgg3.376. Epub 2018 Mar 3. Mol Genet Genomic Med. 2018. PMID: 29500860 Free PMC article.

10

Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism.

Burcu G, Bellacchio E, Sag E, Cebi AH, Saygin I, Bahadir A, Yilmaz G, Corbeddu M, Cakir M, Callea F. Burcu G, et al. Among authors: bellacchio e. Int J Mol Sci. 2020 Jul 20;21(14):5139. doi: 10.3390/ijms21145139. Int J Mol Sci. 2020. PMID: 32698516 Free PMC article.

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