Bellacchio E - Search Results

1

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.

2

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Priolo M, Zara E, Radio FC, Ciolfi A, Spadaro F, Bellacchio E, Mancini C, Pantaleoni F, Cordeddu V, Chiriatti L, Niceta M, Africa E, Mammì C, Melis D, Coppola S, Tartaglia M. Priolo M, et al. Among authors: bellacchio e. Eur J Hum Genet. 2023 Jul;31(7):805-814. doi: 10.1038/s41431-023-01351-7. Epub 2023 Apr 14. Eur J Hum Genet. 2023. PMID: 37059841 Free PMC article. Review.

3

Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases.

Callea M, Bellacchio E, Cammarata Scalisi F, El Feghaly J, El-Ghandour RK, Avendaño A, Yavuz Y, Diociaiuti A, Digilio MC, DI Stazio M, Novelli A, Oranges T, Filippeschi C, Pisaneschi E, Jilani H, Gigola F, Willoughby CE, Morabito A. Callea M, et al. Among authors: bellacchio e. Ital J Dermatol Venerol. 2023 Feb;158(1):32-38. doi: 10.23736/S2784-8671.23.07540-0. Ital J Dermatol Venerol. 2023. PMID: 36939501 Free article.

4

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

5

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis.

Zanni G, Colafati GS, Barresi S, Randisi F, Talamanca LF, Genovese E, Bellacchio E, Bartuli A, Bernardi B, Bertini E. Zanni G, et al. Among authors: bellacchio e. Eur J Paediatr Neurol. 2013 Jul;17(4):361-5. doi: 10.1016/j.ejpn.2012.12.006. Epub 2013 Jan 11. Eur J Paediatr Neurol. 2013. PMID: 23317684

6

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

7

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.

8

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.

9

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.

10

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.

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