Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 63

1.

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.

Alesi V, Loddo S, Calì F, Orlando V, Genovese S, Ferretti D, Calacci C, Calvieri G, Falasca R, Ulgheri L, Drago F, Dallapiccola B, Baban A, Novelli A.

Am J Med Genet A. 2019 May 30. doi: 10.1002/ajmg.a.61217. [Epub ahead of print]

PMID:
31145527
2.

GRIN2A: involvement in movement disorders and intellectual disability without seizures.

Nicotera AG, Calì F, Vinci M, Musumeci SA.

Neurol Sci. 2019 May 16. doi: 10.1007/s10072-019-03923-2. [Epub ahead of print] No abstract available.

PMID:
31098720
3.

Identification of human D lactate dehydrogenase deficiency.

Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ.

Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6.

4.

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

Fichera M, Failla P, Saccuzzo L, Miceli M, Salvo E, Castiglia L, Galesi O, Grillo L, Calì F, Greco D, Amato C, Romano C, Elia M.

Hum Genet. 2019 Feb;138(2):187-198. doi: 10.1007/s00439-019-01972-3. Epub 2019 Jan 17.

PMID:
30656450
5.

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Morlino S, Alesi V, Calì F, Lepri FR, Secinaro A, Grammatico P, Novelli A, Drago F, Castori M, Baban A.

Am J Med Genet A. 2019 Jan;179(1):104-112. doi: 10.1002/ajmg.a.10. Epub 2018 Dec 18.

PMID:
30565850
6.

Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis.

Vinci M, Fchera M, Antonino Musumeci S, Cali F, Aurelio Vitello G.

J Genet. 2018 Dec;97(5):1469-1472.

7.

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease.

Cali F, Cantone M, Cosentino FII, Lanza G, Ruggeri G, Chiavetta V, Salluzzo R, Ragalmuto A, Vinci M, Ferri R.

J Parkinsons Dis. 2019;9(1):203-206. doi: 10.3233/JPD-171292.

PMID:
30400105
8.

Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy.

Schepis C, Failla P, Siragusa M, Vinci M, Calì F.

G Ital Dermatol Venereol. 2018 May 16. doi: 10.23736/S0392-0488.18.05931-X. [Epub ahead of print] No abstract available.

PMID:
29781262
9.

Multiplex Quantification Identifies Novel Exercise-regulated Myokines/Cytokines in Plasma and in Glycolytic and Oxidative Skeletal Muscle.

Little HC, Tan SY, Cali FM, Rodriguez S, Lei X, Wolfe A, Hug C, Wong GW.

Mol Cell Proteomics. 2018 Aug;17(8):1546-1563. doi: 10.1074/mcp.RA118.000794. Epub 2018 May 7.

PMID:
29735541
10.

An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.

Schepis C, Failla P, Siragusa M, Chiavetta V, Ruggeri G, Calì F.

Eur J Dermatol. 2018 Feb 1;28(1):119-120. doi: 10.1684/ejd.2017.3186. No abstract available.

PMID:
29400299
11.

TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16.

Salemi M, Cali' F, Giambirtone M, Elia M, Romano C.

Acta Neurol Belg. 2017 Jul 19. doi: 10.1007/s13760-017-0818-3. [Epub ahead of print] No abstract available.

PMID:
28726039
12.

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

Calì F, Chiavetta V, Ruggeri G, Piccione M, Selicorni A, Palazzo D, Bonsignore M, Cereda A, Elia M, Failla P, Figura MG, Fiumara A, Maitz S, Luana Mandarà GM, Mattina T, Ragalmuto A, Romano C, Ruggieri M, Salluzzo R, Saporoso A, Schepis C, Sorge G, Spanò M, Tortorella G, Romano V.

Eur J Med Genet. 2017 Feb;60(2):93-99. doi: 10.1016/j.ejmg.2016.11.001. Epub 2016 Nov 9.

PMID:
27838393
13.
14.

A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.

Chiavetta V, Romano C, Calì F, Ruggeri G, Siragusa M, Greco D, Romano V, Schepis C.

G Ital Dermatol Venereol. 2016 Oct;151(5):582-5. No abstract available.

PMID:
27595213
15.

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

Busby GBJ, 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.

Curr Biol. 2015 Nov 2;25(21):2878. doi: 10.1016/j.cub.2015.10.037. Epub 2015 Nov 2. No abstract available.

16.

Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway.

Calì F, Bharti SK, Di Perna R, Brosh RM Jr, Pisani FM.

Nucleic Acids Res. 2016 Jan 29;44(2):705-17. doi: 10.1093/nar/gkv1112. Epub 2015 Oct 25.

17.

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.

Curr Biol. 2015 Oct 5;25(19):2518-26. doi: 10.1016/j.cub.2015.08.007. Epub 2015 Sep 17. Erratum in: Curr Biol. 2015 Nov 2;25(21):2878.

18.

The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily.

Tofanelli S, Brisighelli F, Anagnostou P, Busby GB, Ferri G, Thomas MG, Taglioli L, Rudan I, Zemunik T, Hayward C, Bolnick D, Romano V, Cali F, Luiselli D, Shepherd GB, Tusa S, Facella A, Capelli C.

Eur J Hum Genet. 2016 Mar;24(3):429-36. doi: 10.1038/ejhg.2015.124. Epub 2015 Jul 15.

19.

Ancient human genomes suggest three ancestral populations for present-day Europeans.

Lazaridis I, Patterson N, Mittnik A, Renaud G, Mallick S, Kirsanow K, Sudmant PH, Schraiber JG, Castellano S, Lipson M, Berger B, Economou C, Bollongino R, Fu Q, Bos KI, Nordenfelt S, Li H, de Filippo C, Prüfer K, Sawyer S, Posth C, Haak W, Hallgren F, Fornander E, Rohland N, Delsate D, Francken M, Guinet JM, Wahl J, Ayodo G, Babiker HA, Bailliet G, Balanovska E, Balanovsky O, Barrantes R, Bedoya G, Ben-Ami H, Bene J, Berrada F, Bravi CM, Brisighelli F, Busby GB, Cali F, Churnosov M, Cole DE, Corach D, Damba L, van Driem G, Dryomov S, Dugoujon JM, Fedorova SA, Gallego Romero I, Gubina M, Hammer M, Henn BM, Hervig T, Hodoglugil U, Jha AR, Karachanak-Yankova S, Khusainova R, Khusnutdinova E, Kittles R, Kivisild T, Klitz W, Kučinskas V, Kushniarevich A, Laredj L, Litvinov S, Loukidis T, Mahley RW, Melegh B, Metspalu E, Molina J, Mountain J, Näkkäläjärvi K, Nesheva D, Nyambo T, Osipova L, Parik J, Platonov F, Posukh O, Romano V, Rothhammer F, Rudan I, Ruizbakiev R, Sahakyan H, Sajantila A, Salas A, Starikovskaya EB, Tarekegn A, Toncheva D, Turdikulova S, Uktveryte I, Utevska O, Vasquez R, Villena M, Voevoda M, Winkler CA, Yepiskoposyan L, Zalloua P, Zemunik T, Cooper A, Capelli C, Thomas MG, Ruiz-Linares A, Tishkoff SA, Singh L, Thangaraj K, Villems R, Comas D, Sukernik R, Metspalu M, Meyer M, Eichler EE, Burger J, Slatkin M, Pääbo S, Kelso J, Reich D, Krause J.

Nature. 2014 Sep 18;513(7518):409-13. doi: 10.1038/nature13673.

20.

Carrier screening for spinal muscular atrophy in Italian population.

Calì F, Ruggeri G, Chiavetta V, Scuderi C, Bianca S, Barone C, Ragalmuto A, Schinocca P, Vitello GA, Romano V, Musumeci S.

J Genet. 2014 Apr;93(1):179-81. No abstract available.

21.

Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.

Marrale M, Albanese NN, Calì F, Romano V.

PLoS One. 2014 Mar 25;9(3):e90947. doi: 10.1371/journal.pone.0090947. eCollection 2014.

22.

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.

Calì F, Chiavetta V, Ragalmuto A, Vinci M, Ruggeri G, Schinocca P, Romano V.

Genet Mol Res. 2013 Apr 12;12(2):1176-81. doi: 10.4238/2013.April.12.4.

23.

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome.

Calì F, Failla P, Chiavetta V, Ragalmuto A, Ruggeri G, Schinocca P, Schepis C, Romano V, Romano C.

Genet Mol Res. 2013 Jan 7;12(3):2809-15. doi: 10.4238/2013.January.7.2.

24.

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.

Cali F, Ragalmuto A, Chiavetta V, Calabrese G, Fichera M, Vinci M, Ruggeri G, Schinocca P, Sturnio M, Romano S, Romano V, Elia M.

Exp Mol Med. 2010 Dec 31;42(12):842-8.

25.

Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding.

Sbacchi S, Acquadro F, Calò I, Calì F, Romano V.

Curr Genomics. 2010 Apr;11(2):136-45. doi: 10.2174/138920210790886880.

26.

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

Cali F, Ruggeri G, Vinci M, Meli C, Carducci C, Leuzzi V, Pozzessere S, Schinocca P, Ragalmuto A, Chiavetta V, Micciche S, Romano V.

Exp Mol Med. 2010 Feb 28;42(2):81-6. doi: 10.3858/emm.2010.42.2.009.

27.

SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes.

Salemi M, Romano C, Barone C, Calí F, Caraci F, Romano C, Scavuzzo C, Scillato F, Salluzzo MG, Piccione M, Martines M, Corsello G, Nicoletti F, Bosco P.

J Genet. 2009 Apr;88(1):93-7. No abstract available.

28.

Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe.

Capelli C, Onofri V, Brisighelli F, Boschi I, Scarnicci F, Masullo M, Ferri G, Tofanelli S, Tagliabracci A, Gusmao L, Amorim A, Gatto F, Kirin M, Merlitti D, Brion M, Verea AB, Romano V, Cali F, Pascali V.

Eur J Hum Genet. 2009 Jun;17(6):848-52. doi: 10.1038/ejhg.2008.258. Epub 2009 Jan 21.

29.

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome.

Di Gaetano C, Cerutti N, Crobu F, Robino C, Inturri S, Gino S, Guarrera S, Underhill PA, King RJ, Romano V, Cali F, Gasparini M, Matullo G, Salerno A, Torre C, Piazza A.

Eur J Hum Genet. 2009 Jan;17(1):91-9. doi: 10.1038/ejhg.2008.120. Epub 2008 Aug 6.

30.

SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma.

Salemi M, Bosco P, Calì F, Calogero AE, Soma PF, Galia A, Lanzafame M, Romano C, Vicari E, Grasso G, Siragò P, Rappazzo G.

Melanoma Res. 2008 Aug;18(4):295-9. doi: 10.1097/CMR.0b013e32830aaa90.

PMID:
18626316
31.

Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders.

Seidita G, Mirisola M, D'Anna RP, Gallo A, Jensen RT, Mantey SA, Gonzalez N, Falco M, Zingale M, Elia M, Cucina L, Chiavetta V, Romano V, Cali F.

Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):807-13. doi: 10.1002/ajmg.b.30752.

PMID:
18393381
32.

Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study.

Bartocci A, Elia M, Calì F, Tiacci C, Cantisani AT, Perticoni G.

Neurol Sci. 2007 Oct;28(5):276-8. Epub 2007 Oct 31.

PMID:
17972043
33.

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

Annesi F, Gambardella A, Michelucci R, Bianchi A, Marini C, Canevini MP, Capovilla G, Elia M, Buti D, Chifari R, Striano P, Rocca FE, Castellotti B, Cali F, Labate A, LePiane E, Besana D, Sofia V, Tabiadon G, Tortorella G, Vigliano P, Vignoli A, Beccaria F, Annesi G, Striano S, Aguglia U, Guerrini R, Quattrone A.

Epilepsia. 2007 Sep;48(9):1686-1690. doi: 10.1111/j.1528-1167.2007.01173.x. Epub 2007 Jul 18.

34.

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M.

Clin Genet. 2007 Feb;71(2):177-82.

PMID:
17250668
35.

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.

Di Bella MA, Calì F, Seidita G, Mirisola M, Ragusa A, Ragalmuto A, Galesi O, Elia M, Greco D, Zingale M, Gambino G, D'Anna RP, Regan R, Carbone MC, Gallo A, Romano V.

Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):584-90.

PMID:
16823807
36.

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.

Ann Hum Genet. 2006 Mar;70(Pt 2):207-25.

37.

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families.

Romano V, Calì F, Seidita G, Mirisola M, D'Anna RP, Gambino G, Schinocca P, Romano S, Ayala GF, Canziani F, De Leo G, Elia M.

Psychiatr Genet. 2005 Jun;15(2):149-50.

PMID:
15900231
38.

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

Fichera M, Falco M, Lo Giudice M, Castiglia L, Guarnaccia V, Calì F, Spalletta A, Scuderi C, Avola E.

Clin Genet. 2005 May;67(5):446-7. No abstract available.

PMID:
15811016
39.

Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of Africa.

Cruciani F, La Fratta R, Santolamazza P, Sellitto D, Pascone R, Moral P, Watson E, Guida V, Colomb EB, Zaharova B, Lavinha J, Vona G, Aman R, Cali F, Akar N, Richards M, Torroni A, Novelletto A, Scozzari R.

Am J Hum Genet. 2004 May;74(5):1014-22. Epub 2004 Mar 24.

40.

Cell line DNA typing in forensic genetics--the necessity of reliable standards.

Szibor R, Edelmann J, Hering S, Plate I, Wittig H, Roewer L, Wiegand P, Calì F, Romano V, Michael M.

Forensic Sci Int. 2003 Dec 17;138(1-3):37-43.

PMID:
14642717
41.

Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients.

Romano V, Calì F, Mirisola M, Gambino G, D' Anna R, Di Rosa P, Seidita G, Chiavetta V, Aiello F, Canziani F, De Leo G, Ayala GF, Elia M.

Mol Psychiatry. 2003 Aug;8(8):716-7. No abstract available.

PMID:
12888798
42.

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.

Tighe O, Dunican D, O'Neill C, Bertorelle G, Beattie D, Graham C, Zschocke J, Cali F, Romano V, Hrabincova E, Kozak L, Nechyporenko M, Livshits L, Guldberg P, Jurkowska M, Zekanowski C, Perez B, Desviat LR, Ugarte M, Kucinskas V, Knappskog P, Treacy E, Naughten E, Tyfield L, Byck S, Scriver CR, Mayne PD, Croke DT.

Hum Mutat. 2003 Apr;21(4):387-93.

PMID:
12655548
43.

Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy).

Romano V, Calì F, Ragalmuto A, D'Anna RP, Flugy A, De Leo G, Giambalvo O, Lisa A, Fiorani O, Di Gaetano C, Salerno A, Tamouza R, Charron D, Zei G, Matullo G, Piazza A.

Ann Hum Genet. 2003 Jan;67(Pt 1):42-53.

PMID:
12556234
44.

The phenylketonuria mouse model: a meeting review.

McDonald JD, Andriolo M, Calì F, Mirisola M, Puglisi-Allegra S, Romano V, Sarkissian CN, Smith CB.

Mol Genet Metab. 2002 Aug;76(4):256-61. No abstract available.

PMID:
12208130
45.

DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting.

Calì F, Forster P, Kersting C, Mirisola MG, D'Anna R, De Leo G, Romano V.

Int J Legal Med. 2002 Jun;116(3):133-8.

PMID:
12111315
46.

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.

Int J Legal Med. 2002 Apr;116(2):99-108.

PMID:
12056528
47.

PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis.

Mirisola MG, Cali F, Gloria A, Schinocca P, D'Amato M, Cassara G, Leo GD, Palillo L, Meli C, Romano V.

Mol Genet Metab. 2001 Nov;74(3):353-61.

PMID:
11708866
48.

Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes.

Giannattasio S, Dianzani I, Lattanzio P, Spada M, Romano V, Calì F, Andria G, Ponzone A, Marra E, Piazza A.

Hum Hered. 2001;52(3):154-9.

PMID:
11588399
49.

MtDNA control region and RFLP data for Sicily and France.

Cali F, Le Roux MG, D'Anna R, Flugy A, De Leo G, Chiavetta V, Ayala GF, Romano V.

Int J Legal Med. 2001;114(4-5):229-31.

PMID:
11355400
50.

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.

Mol Cell Probes. 2001 Feb;15(1):13-9.

PMID:
11284432

Supplemental Content

Support Center