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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
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), 1-15, 2007
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
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), 1-7, 2014
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 Calì, ...
Human molecular genetics 26 (6), 1056-1069, 2017
Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets
A Izzo, N Mollo, M Nitti, S Paladino, G Calì, R Genesio, F Bonfiglio, ...
Molecular Medicine 24 (1), 1-8, 2018
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
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
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
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
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
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
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), 1-11, 2016
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
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
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
Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22
D Melis, R Genesio, G Cappuccio, V MariaGinocchio, RD Casa, G Menna, ...
American Journal of Medical Genetics Part A 155 (7), 1697-1705, 2011
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
Cytogenetic evaluation of isochromosome 17q in posterior fossa tumors of children and correlation with clinical outcome in medulloblastoma
C DeChiara, A Borghese, A Fiorillo, R Genesio, A Conti, R D’Amore, ...
Child’s Nervous System 18 (8), 380-384, 2002
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly
VM Ginocchio, D De Brasi, R Genesio, R Ciccone, S Gimelli, F Fimiani, ...
European journal of medical genetics 51 (6), 658-665, 2008
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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