Calì F - Search Results

1

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.

Vetri L, Calì F, Saccone S, Vinci M, Chiavetta NV, Carotenuto M, Roccella M, Costanza C, Elia M. Vetri L, et al. Among authors: cali f. Int J Mol Sci. 2024 Jan 17;25(2):1146. doi: 10.3390/ijms25021146. Int J Mol Sci. 2024. PMID: 38256219 Free PMC article.

2

RFLP discordance in a PKU family due to a deletion in the PAH gene.

Bosco P, Ceratto N, Cali F, Goltsov AA, Eisensmith RC, Novelli G, Dalla Piccola B, Romano V. Bosco P, et al. Among authors: cali f. Turk J Pediatr. 1996 Oct-Dec;38(4):497-504. Turk J Pediatr. 1996. PMID: 8993180

3

Population structure in the Mediterranean basin: a Y chromosome perspective.

Capelli C, Redhead N, Romano V, Calì F, Lefranc G, Delague V, Megarbane A, Felice AE, Pascali VL, Neophytou PI, Poulli Z, Novelletto A, Malaspina P, Terrenato L, Berebbi A, Fellous M, Thomas MG, Goldstein DB. Capelli C, et al. Among authors: cali f. Ann Hum Genet. 2006 Mar;70(Pt 2):207-25. doi: 10.1111/j.1529-8817.2005.00224.x. Ann Hum Genet. 2006. PMID: 16626331

4

The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.

Busby GB, Hellenthal G, Montinaro F, Tofanelli S, Bulayeva K, Rudan I, Zemunik T, Hayward C, Toncheva D, Karachanak-Yankova S, Nesheva D, Anagnostou P, Cali F, Brisighelli F, Romano V, Lefranc G, Buresi C, Ben Chibani J, Haj-Khelil A, Denden S, Ploski R, Krajewski P, Hervig T, Moen T, Herrera RJ, Wilson JF, Myers S, Capelli C. Busby GB, et al. Among authors: cali f. Curr Biol. 2015 Oct 5;25(19):2518-26. doi: 10.1016/j.cub.2015.08.007. Epub 2015 Sep 17. Curr Biol. 2015. PMID: 26387712 Free PMC article.

5

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population.

Romano V, Guldberg P, Güttler F, Meli C, Mollica F, Pavone L, Giovannini M, Riva E, Biasucci G, Luotti D, Palillo L, Calí F, Ceratto N, Anello G, Bosco P. Romano V, et al. Among authors: cali f. J Inherit Metab Dis. 1996;19(1):15-24. doi: 10.1007/BF01799343. J Inherit Metab Dis. 1996. PMID: 8830172

6

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.

Bosco P, Cali F, Meli C, Mollica F, Zammarchi E, Cerone R, Vanni C, Palillo L, Greco D, Romano V. Bosco P, et al. Among authors: cali f. Hum Mutat. 1998;11(3):240-3. doi: 10.1002/(SICI)1098-1004(1998)11:3<240::AID-HUMU9>3.0.CO;2-L. Hum Mutat. 1998. PMID: 9521426

7

Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L).

Corsello G, Bosco P, Calì F, Greco D, Cammarata M, Ciaccio M, Piccione M, Romano V. Corsello G, et al. Among authors: cali f. Eur J Pediatr. 1999 Jan;158(1):83-4. doi: 10.1007/s004310051018. Eur J Pediatr. 1999. PMID: 9950317 No abstract available.

8

A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia.

Romano V, Lio D, Calì F, Scola L, Leggio L, D'Anna C, DeLeo G, Salermo A. Romano V, et al. Among authors: cali f. Mol Cell Probes. 2001 Feb;15(1):13-9. doi: 10.1006/mcpr.2000.0330. Mol Cell Probes. 2001. PMID: 11284432

9

Molecular basis of mild hyperphenylalaninaemia in Turkey.

Yilmaz E, Cali F, Roman V, Ozalp I, Coşkun T, Tokatli A, Kalkanoğlu HS, Ozgüç M. Yilmaz E, et al. Among authors: cali f. J Inherit Metab Dis. 2000 Jul;23(5):523-5. doi: 10.1023/a:1005628717813. J Inherit Metab Dis. 2000. PMID: 10947211 No abstract available.

10

Continental and subcontinental distributions of mtDNA control region types.

Forster P, Calì F, Röhl A, Metspalu E, D'Anna R, Mirisola M, De Leo G, Flugy A, Salerno A, Ayala G, Kouvatsi A, Villems R, Romano V. Forster P, et al. Among authors: cali f. Int J Legal Med. 2002 Apr;116(2):99-108. doi: 10.1007/s00414-001-0261-z. Int J Legal Med. 2002. PMID: 12056528

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