• 2161 Citations
  • 19 h-Index
19942019
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Research Output 1994 2019

  • 2161 Citations
  • 19 h-Index
  • 65 Article
  • 1 Chapter
  • 1 Letter
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Article
3 Citations (Scopus)

Identification of human D lactate dehydrogenase deficiency

Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., Calì, F. & 8 others, Bosco, P., Geleijns, K., de Sain-van der Velden, M. G. M., Knoers, N. V., Bakkers, J., Verhoeven-Duif, N. M., van Haaften, G. & Jans, J. J., Dec 1 2019, In : Nature Communications. 10, 1, 1477.

Research output: Contribution to journalArticle

Open Access
Forensic Anthropology
lactates
dehydrogenases
Lactic Acid
acidosis

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

Cali, F., Cantone, M., Irene Ilaria Cosentino, F., Lanza, G., Ruggeri, G., Chiavetta, V., Salluzzo, R., Ragalmuto, A., Vinci, M. & Ferri, R., 2019, (Submitted) In : Journal of Parkinson's Disease.

Research output: Contribution to journalArticle

Parkinson Disease
Inventions
Inborn Genetic Diseases
Neurodegenerative Diseases
Genes
1 Citation (Scopus)
Chromatin Assembly and Disassembly
Brain Diseases
Atrophy
Neurons
Mutation
Netherton Syndrome
Ichthyosis
Hair
Siblings
Pathology
Hereditary Spastic Paraplegia
Spastic Paraparesis
Recessive Genes
Mutation
Genes
2017
8 Citations (Scopus)

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

Calì, F., Chiavetta, N. V., Ruggeri, G., Piccione, M., Selicorni, A., Palazzo, D., Bonsignore, M., Cereda, A., Elia, M., Failla, P., Figura, M. G., Fiumara, A., Maitz, S., Luana Mandarà, G. M., Mattina, T., Ragalmuto Mannino, A., Romano, C., Ruggieri, M., Salluzzo, R., Saporoso, A. & 6 others, Schepis, C., Sorge, G., Spanò, M., Tortorella, G., Salemi, M. & Damjanovicova, M., Feb 1 2017, In : European Journal of Medical Genetics. 60, 2, p. 93-99 7 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1 Genes
Neurofibromatosis 1
Ions
Mutation
Mosaicism

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

Salemi, M., Cali’, F., Giambirtone, M., Elia, M. & Romano, C., Jul 19 2017, (Accepted/In press) In : Acta Neurologica Belgica. p. 1-3 3 p.

Research output: Contribution to journalArticle

2016
4 Citations (Scopus)
Dental Anxiety
Intellectual Disability
Anxiety
13 Citations (Scopus)

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

Tofanelli, S., Brisighelli, F., Anagnostou, P., Busby, G. B. J., Ferri, G., Thomas, M. G., Taglioli, L., Rudan, I., Zemunik, T., Hayward, C., Bolnick, D., Romano, V., Cali, F., Luiselli, D., Shepherd, G. B., Tusa, S., Facella, A. & Capelli, C., Mar 1 2016, In : European Journal of Human Genetics. 24, 3, p. 429-436 8 p.

Research output: Contribution to journalArticle

Sicily
Italy
Breeding
Demography
Genetic Phenomena
2015
2 Citations (Scopus)

Erratum: The role of recent admixture in forming the contemporary west Eurasian genomic landscape (Current Biology (2015) 25 (2518-2526))

Busby, G. B. J., 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. & 8 others, Ploski, R., Krajewski, P., Hervig, T., Moen, T., Herrera, R. J., Wilson, J. F., Myers, S. & Capelli, C., 2015, In : Current Biology. 25, 21, p. 2878 1 p.

Research output: Contribution to journalArticle

29 Citations (Scopus)

The role of recent admixture in forming the contemporary West Eurasian genomic landscape

Busby, G. B. J., 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. & 8 others, Ploski, R., Krajewski, P., Hervig, T., Moen, T., Herrera, R. J., Wilson, J. F., Myers, S. & Capelli, C., Oct 5 2015, In : Current Biology. 25, 19, p. 2518-2526 9 p.

Research output: Contribution to journalArticle

Eurasia
Genes
History
genomics
Population dynamics
2014
449 Citations (Scopus)

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

Lazaridis, I., Patterson, N., Mittnik, A., Renaud, G., Mallick, S., Kirsanow, K., Sudmant, P. H., Schraiber, J. G., Castellano, S., Lipson, M., Berger, B., Economou, C., Bollongino, R., Fu, Q., Bos, K. I., Nordenfelt, S., Li, H., De Filippo, C., Prüfer, K., Sawyer, S. & 100 others, Posth, C., Haak, W., Hallgren, F., Fornander, E., Rohland, N., Delsate, D., Francken, M., Guinet, J. M., Wahl, J., Ayodo, G., Babiker, H. A., Bailliet, G., Balanovska, E., Balanovsky, O., Barrantes, R., Bedoya, G., Ben-Ami, H., Bene, J., Berrada, F., Bravi, C. M., Brisighelli, F., Busby, G. B. J., Cali, F., Churnosov, M., Cole, D. E. C., Corach, D., Damba, L., Van Driem, G., Dryomov, S., Dugoujon, J. M., Fedorova, S. A., Gallego Romero, I., Gubina, M., Hammer, M., Henn, B. M., Hervig, T., Hodoglugil, U., Jha, A. R., Karachanak-Yankova, S., Khusainova, R., Khusnutdinova, E., Kittles, R., Kivisild, T., Klitz, W., Kučinskas, V., Kushniarevich, A., Laredj, L., Litvinov, S., Loukidis, T., Mahley, R. W., 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, E. B., Tarekegn, A., Toncheva, D., Turdikulova, S., Uktveryte, I., Utevska, O., Vasquez, R., Villena, M., Voevoda, M., Winkler, C. A., Yepiskoposyan, L., Zalloua, P., Zemunik, T., Cooper, A., Capelli, C., Thomas, M. G., Ruiz-Linares, A., Tishkoff, S. A., Singh, L., Thangaraj, K., Villems, R., Comas, D., Sukernik, R., Metspalu, M., Meyer, M., Eichler, E. E., Burger, J., Slatkin, M., Pääbo, S., Kelso, J., Reich, D. & Krause, J., Sep 18 2014, In : Nature. 513, 7518, p. 409-413 5 p.

Research output: Contribution to journalArticle

Human Genome
Luxembourg
Population
Sweden
Germany
15 Citations (Scopus)

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

Marrale, M., Albanese, N. N., Calì, F. & Romano, V., Mar 25 2014, In : PLoS One. 9, 3, e90947.

Research output: Contribution to journalArticle

Autistic Disorder
MicroRNAs
microRNA
Genes
genes
3 Citations (Scopus)

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, G. A., Romano, V. & Musumeci, S., 2014, In : Journal of Genetics. 93, 1, p. 179-181 3 p.

Research output: Contribution to journalArticle

2013

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients

Calì, F., Chiavetta, V., Ragalmuto, A., Vinci, M., Ruggeri, G., Schinocca, P. & Romano, V., Apr 12 2013, In : Genetics and Molecular Research. 12, 2, p. 1176-1181 6 p.

Research output: Contribution to journalArticle

Spinocerebellar Ataxias
Alleles
Polymerase Chain Reaction
Prenatal Diagnosis
Neurodegenerative Diseases
4 Citations (Scopus)
Rubinstein-Taybi Syndrome
CREB-Binding Protein
Multiplex Polymerase Chain Reaction
Intelligence
Exons
2011

Epilessia e atrofia muscolare spinale: Descrizione di un nuovo caso

Translated title of the contribution: Spinal muscolar atrophy (SMA) and epilepsy: Report of a new caseBartocci, A., Calì, F., Elia, M., Cantisani, T. A. & Perticoni, G., Apr 2011, In : Bollettino - Lega Italiana contro l'Epilessia. 142, p. 195-196 2 p.

Research output: Contribution to journalArticle

Atrophy
Epilepsy
Spinal Muscular Atrophy
Partial Epilepsy
Exons
39 Citations (Scopus)

Short-term results of a randomized trial examining timing of carotid endarterectomy in patients with severe asymptomatic unilateral carotid stenosis undergoing coronary artery bypass grafting

Illuminati, G., Ricco, J. B., Cali, F., Pacil, M. A., Miraldi, F., Frati, G., MacRina, F. & Toscano, M., Oct 2011, In : Journal of Vascular Surgery. 54, 4, p. 993-999 7 p.

Research output: Contribution to journalArticle

Carotid Endarterectomy
Carotid Stenosis
Coronary Artery Bypass
Stroke
Transplants
2010

Epilessia con crisi a tipo di mioclonie palpebrali con assenze e crisi generalizzate tonico-cloniche con EEG intercritico ad aspetto focale centro-temporale ad alterna prevalenza di lato: Descrizione di un caso

Translated title of the contribution: Epilepsy with eyelid myoclonias and absences, generalized tonic-clonic seizures and focal central-temporal paroxysmal abnormalities: A case reportBartocci, A., Elia, M., Cali, F. & Perticoni, G., Apr 2010, In : Bollettino - Lega Italiana contro l'Epilessia. 140, p. 133-135 3 p.

Research output: Contribution to journalArticle

Eyelids
Epilepsy
Sleep
Seizures
Stroke
16 Citations (Scopus)

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

Calì, F., Ruggeri, G., Vinci, M., Meli, C., Carducci, C., Leuzzi, V., Pozzessere, S., Schinocca, P., Ragalmuto, A., Chiavetta, V., Miccichè, S. & Romano, V., Feb 28 2010, In : Experimental and Molecular Medicine. 42, 2, p. 81-86 6 p.

Research output: Contribution to journalArticle

Phenylalanine Hydroxylase
Exons
Phenylketonurias
Genes
Alleles
21 Citations (Scopus)

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., Apr 2010, In : Current Genomics. 11, 2, p. 136-145 10 p.

Research output: Contribution to journalArticle

Gene Dosage
Genes
Autistic Disorder
Gene Ontology
Nervous System
6 Citations (Scopus)
Angelman Syndrome
Ubiquitin-Protein Ligases
Multiplex Polymerase Chain Reaction
Amplification
Genes
2009
41 Citations (Scopus)

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, P. A., King, R. J., Romano, V., Cali, F., Gasparini, M., Matullo, G., Salerno, A., Torre, C. & Piazza, A., 2009, In : European Journal of Human Genetics. 17, 1, p. 91-99 9 p.

Research output: Contribution to journalArticle

Sicily
Y Chromosome
Islands
Mediterranean Islands
Balkan Peninsula
29 Citations (Scopus)

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, A. B., Romano, V., Cali, F. & Pascali, V., 2009, In : European Journal of Human Genetics. 17, 6, p. 848-852 5 p.

Research output: Contribution to journalArticle

Sicily
Haplotypes
1 Citation (Scopus)

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, M. G., Piccione, M., Martines, M., Corsello, G., Nicoletti, F. & Bosco, P., Apr 2009, In : Journal of Genetics. 88, 1, p. 93-97 5 p.

Research output: Contribution to journalArticle

2008
9 Citations (Scopus)

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

Seidita, G., Mirisola, M., D'Anna, R. P., Gallo, A., Jensen, R. T., Mantey, S. A., Gonzalez, N., Falco, M., Zingale, M., Elia, M., Cucina, L., Chiavetta, V., Romano, V. & Cali, F., Sep 5 2008, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 147, 6, p. 807-813 7 p.

Research output: Contribution to journalArticle

Bombesin Receptors
Genes
BALB 3T3 Cells
Rett Syndrome
Viverridae
8 Citations (Scopus)

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

Salemi, M., Bosco, P., Calì, F., Calogero, A. E., Soma, P. F., Galia, A., Lanzafame, M., Romano, C., Vicari, E., Grasso, G., Siragò, P. & Rappazzo, G., Aug 2008, In : Melanoma Research. 18, 4, p. 295-299 5 p.

Research output: Contribution to journalArticle

Gene Dosage
Melanoma
Genes
Spermatozoa
Sicily
2007
45 Citations (Scopus)

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., Feb 2007, In : Clinical Genetics. 71, 2, p. 177-182 6 p.

Research output: Contribution to journalArticle

DiGeorge Syndrome
Velopharyngeal Insufficiency
Genomic Segmental Duplications
Eyebrows
Phenotype
3 Citations (Scopus)

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, A. T. & Perticoni, G., Oct 2007, In : Neurological Sciences. 28, 5, p. 276-278 3 p.

Research output: Contribution to journalArticle

Juvenile Myoclonic Epilepsy
Molecular Biology
Genes
Febrile Seizures
Valproic Acid
29 Citations (Scopus)

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

Annesi, F., Gambardella, A., Michelucci, R., Bianchi, A., Marini, C., Canevini, M. P., Capovilla, G., Elia, M., Buti, D., Chifari, R., Striano, P., Rocca, F. E., Castellotti, B., Cali, F., Labate, A., LePiane, E., Besana, D., Sofia, V., Tabiadon, G., Tortorella, G. & 8 others, Vigliano, P., Vignoli, A., Beccaria, F., Annesi, G., Striano, S., Aguglia, U., Guerrini, R. & Quattrone, A., Sep 2007, In : Epilepsia. 48, 9, p. 1686-1690 5 p.

Research output: Contribution to journalArticle

Juvenile Myoclonic Epilepsy
Mutation
Genes
Belize
Genetic Heterogeneity
2006

Epilessia mioclonica giovanile ed EEG focale: Descrizione di un caso con studio genetico-molecolare

Translated title of the contribution: Abnormalities in juvenile myoclonic epilepsy: A case report with molecular genetic analysisBartocci, A., Elia, M., Calì, F., Tiacci, C., Cantisani, A. T. & Perticoni, G., Jul 2006, In : Bollettino - Lega Italiana contro l'Epilessia. 133-134, p. 159-161 3 p.

Research output: Contribution to journalArticle

Juvenile Myoclonic Epilepsy
Molecular Biology
Genes
Febrile Seizures
Valproic Acid
51 Citations (Scopus)

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, A. E., Pascali, V. L., Neophytou, P. I., Poulli, Z., Novelletto, A., Malaspina, P., Terrenato, L., Berebbi, A., Fellous, M., Thomas, M. G. & Goldstein, D. B., Mar 2006, In : Annals of Human Genetics. 70, 2, p. 207-225 19 p.

Research output: Contribution to journalArticle

Y Chromosome
Mediterranean Region
Northern Africa
Population
Demography
11 Citations (Scopus)

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

Di Bella, M. A., Calì, F., Seidita, G., Mirisola, M., Ragusa, A., Ragalmuto, A., Galesi, O., Elia, M., Greco, D., Zingale, M., Gambino, G., D'Anna, R. P., Regan, R., Carbone, M. C., Gallo, A. & Romano, V., Sep 5 2006, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 141, 6, p. 584-590 7 p.

Research output: Contribution to journalArticle

Trisomy
Autistic Disorder
Chromosomes, Human, Pair 21
Gene Dosage
Chromosomes, Human, Pair 13
2005
2 Citations (Scopus)

mtDNA analysis of the Human remains buried in the Sarcophagus of Federico II

Salerno, A., Lago, G., Berti, A., Calì, F., Mirisola, M., Carta, P., Ferro, C. & Romano, V., 2005, In : Journal of Cultural Heritage. 6, 4, p. 313-319 7 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Bone
Nucleotides
reconstruction
genetic research
8 Citations (Scopus)

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation [5]

Fichera, M., Falco, M., Lo Giudice, M., Castiglia, L., Guarnaccia, V., Calì, F., Spalletta, A., Scuderi, C., Avola, E. & Romano, C., May 2005, In : Clinical Genetics. 67, 5, p. 446-447 2 p.

Research output: Contribution to journalArticle

6 Citations (Scopus)

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

Romano, V., Calí, F., Seidita, G., Mirisola, M., D'Anna, R. P., Gambino, G., Schinocca, P., Romano, S., Ayala, G. F., Canziani, F., De Leo, G. & Elia, M., Jun 2005, In : Psychiatric Genetics. 15, 2, p. 149-150 2 p.

Research output: Contribution to journalArticle

Autistic Disorder
Linkage Disequilibrium
Genes
Chromosomes
Population
2004
157 Citations (Scopus)

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, E. B., Zaharova, B., Lavinha, J., Vona, G., Aman, R., Calì, F., Akar, N., Richards, M., Torroni, A., Novelletto, A. & Scozzari, R., May 2004, In : American Journal of Human Genetics. 74, 5, p. 1014-1022 9 p.

Research output: Contribution to journalArticle

Chromosomes, Human, 16-18
Y Chromosome
Phylogeny
Phylogeography
Western Africa
2003
13 Citations (Scopus)

Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy)

Romano, V., Calì, F., Ragalmuto, A., D'Anna, R. P., 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., Jan 2003, In : Annals of Human Genetics. 67, 1, p. 42-53 12 p.

Research output: Contribution to journalArticle

Sicily
Mitochondrial DNA
Microsatellite Repeats
Italy
Genetic Heterogeneity
101 Citations (Scopus)

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., Dec 17 2003, In : Forensic Science International. 138, 1-3, p. 37-43 7 p.

Research output: Contribution to journalArticle

Forensic Genetics
DNA Fingerprinting
Cells
Cell Line
DNA
26 Citations (Scopus)

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, L. R., Ugarte, M., Kučinskas, V. & 8 others, Knappskog, P., Treacy, E., Naughten, E., Tyfield, L., Byck, S., Scriver, C. R., Mayne, P. D. & Croke, D. T., 2003, In : Human Mutation. 21, 4, p. 387-393 7 p.

Research output: Contribution to journalArticle

Minisatellite Repeats
Phenylketonurias
Mutation
Microsatellite Repeats
Phenylalanine Hydroxylase
17 Citations (Scopus)

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

Romano, V., Calí, F., Mirisola, M., Gambino, G., D' Anna, R., Di Rosa, P., Seidita, G., Chiavetta, V., Aiello, F., Canziani, F., De Leo, G., Ayala, G. F. & Elia, M., 2003, In : Molecular Psychiatry. 8, 8, p. 716-717+713

Research output: Contribution to journalArticle

Autistic Disorder
Mutation
Homeobox Genes
Brain
Genes
2002
35 Citations (Scopus)

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., 2002, In : International Journal of Legal Medicine. 116, 2, p. 99-108 10 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Population
Geographic Information Systems
Crime
management counsulting
18 Citations (Scopus)

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, M. G., D'Anna, R., De Leo, G. & Romano, V., 2002, In : International Journal of Legal Medicine. 116, 3, p. 133-138 6 p.

Research output: Contribution to journalArticle

DNA Fingerprinting
Microsatellite Repeats
Coloring Agents
Mothers
Amelogenin
2001
19 Citations (Scopus)

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., 2001, In : Human Heredity. 52, 3, p. 154-159 6 p.

Research output: Contribution to journalArticle

Genetic Heterogeneity
Phenylketonurias
Mutation
Chromosomes
Genes
34 Citations (Scopus)

MtDNA control region and RFLP data for Sicily and France

Cali, F., Le Roux, M. G., D'Anna, R., Flugy, A., De Leo, G., Chiavetta, V., Ayala, G. F. & Romano, V., 2001, In : International Journal of Legal Medicine. 114, 4-5, p. 229-231 3 p.

Research output: Contribution to journalArticle

Sicily
Mitochondrial DNA
Restriction Fragment Length Polymorphisms
France
Sampling Studies
13 Citations (Scopus)

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

Mirisola, M. G., Cali, F., Gloria, A., Schinocca, P., D'Amato, M., Cassara, G., De Leo, G., Palillo, L., Meli, C. & Romano, V., 2001, In : Molecular Genetics and Metabolism. 74, 3, p. 353-361 9 p.

Research output: Contribution to journalArticle

Polycyclic aromatic hydrocarbons
Phenylketonurias
Genes
Mutation
Population