Francalanci P - Search Results

1

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: francalanci p. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137 Free article.

2

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27.

Francalanci P, Eymard-Pierre E, Dionisi-Vici C, Boldrini R, Piemonte F, Virgili R, Fariello G, Bosman C, Santorelli FM, Boespflug-Tanguy O, Bertini E. Francalanci P, et al. Neurology. 2001 Jul 24;57(2):265-70. doi: 10.1212/wnl.57.2.265. Neurology. 2001. PMID: 11468311

3

Malignant pancreatic endocrine tumor in a child with tuberous sclerosis.

Francalanci P, Diomedi-Camassei F, Purificato C, Santorelli FM, Giannotti A, Dominici C, Inserra A, Boldrini R. Francalanci P, et al. Am J Surg Pathol. 2003 Oct;27(10):1386-9. doi: 10.1097/00000478-200310000-00012. Am J Surg Pathol. 2003. PMID: 14508401

4

Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.

Francalanci P, Santorelli FM, Talini I, Boldrini R, Devito R, Camassei FD, Maggiore G, Callea F. Francalanci P, et al. J Pediatr. 2006 Mar;148(3):396-8. doi: 10.1016/j.jpeds.2005.10.007. J Pediatr. 2006. PMID: 16615976

5

A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis.

Nobili V, Di Giandomenico S, Francalanci P, Callea F, Marcellini M, Santorelli FM. Nobili V, et al. Among authors: francalanci p. J Gastroenterol. 2006 Jun;41(6):598-603. doi: 10.1007/s00535-006-1816-z. J Gastroenterol. 2006. PMID: 16868810

6

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy.

D'Amico A, Petrini S, Parisi F, Tessa A, Francalanci P, Grutter G, Santorelli FM, Bertini E. D'Amico A, et al. Among authors: francalanci p. Neuromuscul Disord. 2008 Feb;18(2):153-5. doi: 10.1016/j.nmd.2007.09.013. Epub 2007 Dec 3. Neuromuscul Disord. 2008. PMID: 18060779

7

Z and Mmalton-1-antitrypsin deficiency-associated hepatocellular carcinoma: a genetic study.

Francalanci P, Santorelli FM, Saccani S, Bonetti MF, Medicina D, Coni P, Faa G, Callea F. Francalanci P, et al. Liver Int. 2009 Nov;29(10):1593-6. doi: 10.1111/j.1478-3231.2009.02091.x. Epub 2009 Sep 10. Liver Int. 2009. PMID: 19744266

8

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: francalanci p. 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

9

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy.

Bianchi M, Rizza T, Verrigni D, Martinelli D, Tozzi G, Torraco A, Piemonte F, Dionisi-Vici C, Nobili V, Francalanci P, Boldrini R, Callea F, Santorelli FM, Bertini E, Carrozzo R. Bianchi M, et al. Among authors: francalanci p. Biochem Biophys Res Commun. 2011 Nov 18;415(2):300-4. doi: 10.1016/j.bbrc.2011.10.049. Epub 2011 Oct 18. Biochem Biophys Res Commun. 2011. PMID: 22027147 Free PMC article.

10

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. Among authors: francalanci p. Hepatol Res. 2012 Mar;42(3):327-31. doi: 10.1111/j.1872-034X.2011.00925.x. Hepatol Res. 2012. PMID: 22364601

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