Pubblicazioni

Marco Biolato, Rosy Terranova, Nicholas Viceconti, Giuseppe Marrone, Luca Miele, Maria Cristina Giustiniani, Paola Francalanci, Annalisa Gazzellone, Alessia Bauleo, Elena Falcone, Maurizio Genuardi and Antonio Grieco.
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2?

doi: 10.1093/gastro/goae022
<Gastroenterology Report, 2024, 12, goae02
2https://pubmed.ncbi.nlm.nih.gov/38665279/

Alessia Giugno, Elena Falcone, Francesco Fortunato, Ilaria Sammarra, Radha Procopio, Monica Gagliardi, Alessia Bauleo, Laura de Stefano, Iolanda Martino, Antonio Gambardella.
Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant
doi: 10.1111/ene.16325
Eur J Neurol 2024 May 27;
https://pubmed.ncbi.nlm.nih.gov/38803061/

Alessia Bauleo, Alberto Montesanto, Vincenza Pace, Francesco Guarasci, Rosalbina Apa, Rossella Brando, Laura De Stefano, Simona Sestito, Daniela Concolino, Elena Falcone

7p22.2 microduplication: a pathogenic CNV?

doi: 10.3390/genes14061292.

https://pubmed.ncbi.nlm.nih.gov/37372471/

Alessia Bauleo, Vincenza Pace, Alberto Montesanto, Laura De Stefano , Rossella Brando , Domenica Puntorieri ,  Luca Cento, Maurizio Genuardi , Elena Falcone

3q29 microduplication syndrome: New evidence for the refinement of the critical region.

doi: 10.1002/mgg3.2130

https://pubmed.ncbi.nlm.nih.gov/36691815/

Alessia Bauleo , Alberto Montesanto , Vincenza Pace , Rossella Brando , Laura De Stefano, Domenica Puntorieri ,  Luca Cento, Sara Loddo , Chiara Calacci , Antonio Novelli , Elena Falcone

Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders.

Psychiatr Genet 2021 Dec 1;31(6):239-245

doi: 10.1097/YPG.0000000000000296

https://pubmed.ncbi.nlm.nih.gov/34412080

G. De Benedictis , G. Rose, G. Carrieri, M. De Luca, E. Falcone, G. Passarino, M. Bonafe, D. Monti, G.Baggio, S. Bertolini, D. Mari, R. Mattace, C. Franceschi.

Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans.

FASEB J 1999 Sep;13(12):1532-6. doi: 10.1096/fasebj.13.12.1532.

PMID: 10463944 DOI: 10.1096/fasebj.13.12.1532

https://pubmed.ncbi.nlm.nih.gov/10463944/

G. De Benedictis , L. Carotenuto, G. Carrieri, M. De Luca, E. Falcone, G. Rose, S. Cavalcanti, F. Corsonello, E. Feraco, G. Baggio, S. Bertolini, D. Mari, R. Mattace, A. I. Yashin, M. Bonafè, C.Franceschi.

Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2).

Eur J Hum Genet Nov-Dec 1998;6(6):534-41. doi: 10.1038/sj.ejhg.5200222.

PMID: 9887369 doi: 10.1038/sj.ejhg.5200222

https://pubmed.ncbi.nlm.nih.gov/9887369/

G. De Benedictis , L. Carotenuto, G. Carrieri, M. De Luca, E Falcone, G. Rose, A. I. Yashin, M. Bonafè, C. Franceschi.

Age-related changes of the 3«APOB-VNTR genotype pool in ageing cohorts.

Ann. Hum. Genet. (1998), 62, 115±122

doi: 10.1046/j.1469-1809.1998.6220115.x

https://pubmed.ncbi.nlm.nih.gov/9759473/

G. De Benedictis · E. Falcone · G. Rose · R. Ruffolo · P. Spadafora · G. Baggio · S. Bertolini · D. Mari · R. Mattace · D. Monti · M. Morellini · P. Sansoni · C. Franceschi.

DNA multiallelic systems reveal gene/longevity associations not detected by diallelic systems. The APOB locus.

Hum Genet (1997) 99 : 312–318

PMID: 9050915 doi: 10.1007/s004390050364

https://pubmed.ncbi.nlm.nih.gov/9050915/

G. Rose , M. De Luca, E. Falcone, P. Spadafora, G. Carrieri, G. De Benedictis.

Allele frequency distributions at seven DNA hypervariable loci in a population sample from Calabria (southern Italy).

Gene Geography 1996 Aug;10(2):135-45.

PMID: 9049623

https://pubmed.ncbi.nlm.nih.gov/9049623/

G. De Benedictis , E. Falcone, R. Ruffolo, P. Spadafora, L. Carotenuto.

Linkage disequilibrium studies in the thyroid peroxidase and apolipoprotein B genes.

Hum Biol1996 Feb;68(1):147-54.

PMID: 8907761

https://pubmed.ncbi.nlm.nih.gov/8907761/

E. Falcone, P. Spadafora, M. De Luca, R. Ruffolo, C. Brancati and G. De Benedictis.

DYS19, D12S67, and D1S80 polymorphisms in population samples from southern Italy and Greece.

Human Biology Vol. 67, No. 5 (October 1995), pp. 689-701 (13 pages).

https://www.jstor.org/stable/41465420

G. De Benedictis, G. Passarino, O. Leone, E. Falcone, A. S. Santachiara Benerecetti, E. Boletini & O. Semino.

Mitochondrial DNA polymorphisms in a sample of Albanian population (Tirana).

International Journal of Anthropology volume 9, pages129–135 (1994). Published: April 1994.

https://link.springer.com/article/10.1007/BF02447601

G. De Benedictis, O. Leone, E. Falcone, G. Rose, C. Brancati, L. Carotenuto.

RFLPs of the APOB gene: comparative study between Greeks and southern Italian peoples.

Hum Biol 1993 Jun;65(3):401-11.

PMID: 8100550

https://pubmed.ncbi.nlm.nih.gov/8100550/

Poster