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Year
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
FR Grati, D Molina Gomes, JCPB Ferreira, C Dupont, V Alesi, L Gouas, ...
Prenatal diagnosis 35 (8), 801-809, 2015
3122015
Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy
A Conti, F Fabbrini, P D'Agostino, R Negri, D Greco, R Genesio, ...
BMC genomics 8, 1-15, 2007
1652007
Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets
A Izzo, N Mollo, M Nitti, S Paladino, G Calė, R Genesio, F Bonfiglio, ...
Molecular Medicine 24, 1-8, 2018
1092018
Metformin restores the mitochondrial network and reverses mitochondrial dysfunction in Down syndrome cells
A Izzo, M Nitti, N Mollo, S Paladino, C Procaccini, D Faicchia, G Calė, ...
Human molecular genetics 26 (6), 1056-1069, 2017
922017
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2
E Mozzillo, M Delvecchio, M Carella, E Grandone, P Palumbo, A Salina, ...
BMC Medical Genetics 15, 1-7, 2014
822014
The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster
F Cerrato, A Sparago, ID Matteo, X Zou, W Dean, H Sasaki, P Smith, ...
Human molecular genetics 14 (4), 503-511, 2005
792005
Prenatal BACs‐on‐BeadsTM: the prospective experience of five prenatal diagnosis laboratories
F Vialard, G Simoni, DM Gomes, A Abourra, SD Toffol, F Bru, ...
Prenatal Diagnosis 32 (4), 329-335, 2012
592012
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants
G Cappuccio, F Vitiello, A Casertano, P Fontana, R Genesio, D Bruzzese, ...
Italian journal of pediatrics 42, 1-11, 2016
362016
Immunoglobulin heavy‐chain fluorescence in situ hybridization‐chromogenic in situ hybridization DNA probe split signal in the clonality assessment of lymphoproliferative …
P Zeppa, LV Sosa Fernandez, I Cozzolino, V Ronga, R Genesio, ...
Cancer cytopathology 120 (6), 390-400, 2012
352012
Lithium chloride induces mesenchymal‑to‑epithelial reverting transition in primary colon cancer cell cultures
V Costabile, F Duraturo, P Delrio, D Rega, U Pace, R Liccardo, GB Rossi, ...
International journal of oncology 46 (5), 1913-1923, 2015
342015
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice
AC Houweling, GM Beaman, AV Postma, TB Gainous, KD Lichtenbelt, ...
The Journal of clinical investigation 129 (12), 5374-5380, 2019
312019
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region
D Melis, R Genesio, P Boemio, E Del Giudice, G Cappuccio, A Mormile, ...
American Journal of Medical Genetics Part A 158 (4), 832-835, 2012
302012
A case of 14q11. 2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome
G Terrone, G Cappuccio, R Genesio, A Esposito, V Fiorentino, M Riccitelli, ...
American Journal of Medical Genetics Part A 164 (1), 190-193, 2014
292014
Genetic and molecular analysis of a new unbalanced X; 18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region
F Fusco, M Paciolla, E Chen, X Li, R Genesio, A Conti, J Jones, L Poeta, ...
Human reproduction 26 (11), 3186-3196, 2011
292011
Overexpression of chromosome 21 miRNAs may affect mitochondrial function in the hearts of Down syndrome fetuses
A Izzo, R Manco, T Cristofaro, F Bonfiglio, R Cicatiello, N Mollo, ...
International Journal of Genomics 2017, 2017
282017
Partial cerebellar hypoplasia in a patient with Prader‐Willi syndrome
L Titomanlio, D De Brasi, A Romano, R Genesio, AA Diano, ...
Acta Paediatrica 95 (7), 861-863, 2006
262006
Targeting mitochondrial network architecture in Down syndrome and aging
N Mollo, R Cicatiello, M Aurilia, R Scognamiglio, R Genesio, ...
International Journal of Molecular Sciences 21 (9), 3134, 2020
252020
Loeys–Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene
P Fontana, R Genesio, A Casertano, G Cappuccio, A Mormile, L Nitsch, ...
Gene 538 (1), 69-73, 2014
242014
Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype
G Rita, DB Daniele, C Anna, B Annamaria, DM Pasqua, DC Pasquale, ...
American Journal of Medical Genetics Part A 128 (4), 422-428, 2004
232004
Chromosomal microarray analysis versus karyotyping in fetuses with increased nuchal translucency
R Cicatiello, P Pignataro, A Izzo, N Mollo, L Pezone, GM Maruotti, L Sarno, ...
Medical Sciences 7 (3), 40, 2019
202019
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