Laurea (vecchio ordin.) - unina.it · TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F....

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Transcript of Laurea (vecchio ordin.) - unina.it · TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F....

Page 1: Laurea (vecchio ordin.) - unina.it · TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
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1994/1995Laurea (vecchio ordin.)Laurea in Scienze Biologiche Università degli Studi di NAPOLI "Federico II"

Progetti scientifici e premi perattività scientifica

Telethon Grant C40 for a Bank of Cells and Tissues from malformed fetusesTelethon Grant GTF01006 for a Bank of Cells and Tissues from malformedBioGeM project: Genetica molecolare di malformazioni umane caratterizzateda alterazioni della morfogenesiPremio Telethon per l' istituzione di una banca di tessuti e cellule di feti umani malformati

Madrelingua ItalianaAltra lingua Inglese• Capacità di lettura

elementare

• Capacità di scrittura

elementare

• Capacità di espressione orale

elementare

Ulteriori informazioni

Socio della Società Italiana di Genetica Umana (SIGU)Membro Gruppo di Lavoro di Citogenetica SIGU

Capacità e competenze tecniche

Corsi di perfeziona-mento

Citogenetica, citogenetica molecolare , citogenomica e biologia molecolare.

Corso in Patologia Ambientale Università degli studi di Napoli Federico II

Corso in farmaci di sintesi in rapporto alla recente produzione Università degli studi di Napoli SUN

Corso in La qualità in consulenza genetica” Università degli studi di Napoli Federico II.

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Corso teorico –pratico sulle tecniche di Fluorescence in Situ Hybridization, Università degli Studi di Bari.

Corso teorico pratico in “Molecular Cytogenetics and DNA Arrays” Università di Bologna

Corso teorico –pratico “CGH-ARRAY” le nuove frontiere della citogenetica molecolare ad alta risoluzione Iistituto CSS- Mendel di Roma

PUBBLICAZIONI SCIENTIFICHE SU RIVISTE INTERNAZIONALI

2016. Viola Alesi1*, Laura Bernardini2 , Didier Goidin3 , Michela Canestrelli4 , Maria Lisa Dentici1 , Giuseppe Barrano4 , Maria Grazia Giuffrida2 , Anna Maria Nardone5 , Diana Postorivo5 , Luigi Laino6 , Rita Genesio7 , Bruno Dallapiccola1 and Antonio Novelli1Easychip 8x15k: A New Tool for Detecting Chromosome Anomalies in Low Risk Pregnancies, Supporting and Integrating Standard KaryotypeJ Genet Syndr Gene Ther 2016, 7:1

2015. Genesio R, Fontana P, Mormile A, Casertano A, Falco M, Conti A, Franzese A, Mozzillo E, Nitsch L, Melis D.Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome.Mol Cytogenet. 2015 Dec 18;8:96. doi: 10.1186/s13039-015-0199-3

2015. Genesio R, Mormile A, Licenziati MR, De Brasi D, Leone G, Balzano S, Izzo A, Bonfiglio F, Conti A, Fioretti G, Lenta S, Poggiano MR, Siani P, Nitsch L.Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.Mol Cytogenet. 2015 Jul 15;8:50

2015. Grati FR, Molina Gomes D, Ferreira JC, Dupont C, Alesi V, Gouas L, Horelli-Kuitunen N, Choy KW, García-Herrero S, de la Vega AG, Piotrowski K, Genesio R, Queipo G, Malvestiti B, Hervé B, Benzacken B, Novelli A, Vago P, Piippo K, Leung TY, Maggi F, Quibel T, Tabet AC, Simoni G, Vialard F.Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesPrenatal diagnosis 35 (8), 801-809, 2015

2015. Mozzillo E, Delvecchio M, Carella M, Grandone E, Palumbo P, Salina A, Aloi C, Buono P, Izzo A, D'Annunzio G, Vecchione G, Orrico A, Genesio R, Simonelli F, Franzese A.A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.BMC MED GENET. 2014 JUL 24;15:88.

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2015. Costabile V, Duraturo F, Delrio P, Rega D, Pace U, Liccardo R, Rossi GB, Genesio R, Nitsch L, Izzo P, De Rosa M.Lithium chloride induces mesenchymal-to-epithelial reverting transition in primary colon cancer cell culturesinternational journal of oncology 46 (5), 1913-1923, 2015INT J ONCOL. 2015 MAY;46(5):1913-23. DOI: 10.3892/IJO.2015.2911

2014. Paolo Fontana, RITA GENESIO, Alberto Casertano, Gerarda Cappuccio, Angela Mormile, Lucio Nitsch, Achille Iolascon, Generoso Andria, Daniela MelisLoeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 geneGENE 2014

2014. Gaetano Terrone, Gerarda Cappuccio, GENESIO R, Annalisa Esposito, Valeria Fiorentino, Marina Riccitelli, Lucio Nitsch, Nicola Brunetti-Pierri, and Ennio Del Giudice (in stampa). A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of WolfHirschhorn syndrome . AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, ISSN: 1552-4825

2013. Gerarda Cappuccio, GENESIO R, Valentina Ronga, Alberto Casertano, Antonella Izzo, Maria Pia Riccio, Carmela Bravaccio, Maria Carolina Salerno, Lucio Nitsch, Generoso Andria, Daniela Melis (in stampa). Complex chromosomal rearrangements causing LangerGiedion syndrome atypical phenotype: genotype-phenotype correlation and literature review . AMERICAN JOURNAL OF MEDICAL GENETICS. PART A (ONLINE), ISSN: 1552-4833

2013. Annalisa Passarielloa, Daniele De Brasi, Raffaella Defferrari, GENESIO R, Maria Tufano, Katia Mazzocco, Maria Capasso, Roberta Migliorati, Tommy Martinsson, Paolo Siani, Lucio Nitsch, Gian Paolo Tonini (2013). Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy. EUROPEAN JOURNAL OF MEDICAL GENETICS, ISSN: 1769-7212

2013. GENESIO R, Valentina Ronga, Pia Castelluccio, Gennaro Fioretti, Angela Mormile, Graziella Leone, Anna Conti, Maria Luigia Cavaliere and Lucio Nitsch (2013). Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event. MOLECULAR CYTOGENETICS, vol. 6, ISSN: 1755-8166

2012. Cirillo E, Romano R, Romano A, Giardino G, Durandy A, Nitsch L, Genesio R, Di Gregorio E, Cavalieri S, Abate G, Del Vecchio L, Brusco A, Pignata C. (2012). De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A vol. Volume 158A, p. 2571-2576, ISSN: 1552-4833, doi: 10.1002/ajmg.a.35556

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2012. Zeppa P, Sosa Fernandez LV, Cozzolino I, Ronga V, GENESIO R, Salatiello M, Picardi M, Malapelle U, Troncone G, Vigliar E. (2012). Immunoglobulin heavy-chain fluorescence in situ hybridization-chromogenic in situ hybridization DNA probe split signal in the clonality assessment of lymphoproliferative processes on cytological samples.. CANCER CYTOPATHOLOGY, ISSN: 1934-662X, doi: 10.1002/cncy.21203

2012: François Vialard; Simona De Toffol; Maria Carmen Martinez Romero; Azzedine Abourra; B Benzacken; Philippe Bouhanna; Fabrice Bru; RITA GENESIO; Denise Molina Gomes; Beatrice Grimi; Livia Marcato; Jose Antonio Martínez-Conejero; Lucio Nitsch; Thomas Popowski; Giuseppe Simoni; Francesca R GratiPrenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories.PRENATAL DIAGNOSIS 2012;32(4):329-35.

2012: Daniela Melis; RITA GENESIO; Angela Mormile; Lucio Nitsch; Valentina Ronga; Pasquale Boemio; Gerarda Cappuccio; Anna Conti; Emanuele Miraglia del Giudice; Floriana Imperati; generoso andriaClinical description of a patient carrying the smallest reported deletion involving 10p14 region.AMERICAN JOURNAL OF MEDICAL GENETICS. Part A 2012;158A(4):832-5.

2012: A Izzo; RITA GENESIO; L Marullo; R Cicatiello; Anna Conti;; V Nocera; Dario Paladini; V Ronga; G Sglavo; Lucio Nitsch40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features.EUROPEAN JOURNAL OF MEDICAL GENETICS 2012;55(2):140-4.

2012: Daniela Melis; RITA GENESIO; Angela Mormile; Roberta Taurisano; generoso andria; Anna Conti; Ennio Del Giudice; Federica D'Elia;; Floriana Imperati; Lucio NitschSelective cognitive impairment and tall stature due to chromosome 19 supernumerary ring.CLINICAL DYSMORPHOLOGY 2012;21(1):27-32.

2011: Francesca Fusco; Julie Jones; Xu Li; Maria Brigida Lioi; Emily Chen; RITA GENESIO;Anna Conti; Mariateresa Paciolla; Loredana Poeta; Matilde Valeria Ursini; Maria Giuseppina MianoGenetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.HUMAN REPRODUCTION (Oxford, England) 2011;26(11):3186-96.

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2011: Daniela Melis; RITA GENESIO; Giuseppe Menna; Lucio Nitsch; Vincenzo Poggi; Salvatore Buffardi; Gerarda Cappuccio; Massimo Carella; Roberto Della Casa; Emanuele Miraglia del Giudice;; Floriana Imperati; Antonella Izzo; Anna Leszle; Virginia MariaGinocchio; generoso andriaMental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.AMERICAN JOURNAL OF MEDICAL GENETICS. Part A 2011;155A(7):1697-705.

2011: Giuseppe Maria Maruotti; Floriana Fabbrini; Raffaele Napolitano; RITA GENESIO; Anna Conti; Giovanna Mallia Milanes; Laura Letizia Mazzarelli; Pasquale MartinelliTrisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?AMERICAN JOURNAL OF MEDICAL GENETICS. Part A 2011;155A(1):225-7.

2010: Daniela Melis; RITA GENESIO; Mariarosaria Cozzolino; Emanuele Miraglia del Giudice; Angela Mormile; Floriana Imperati; Valentina Ronga; Roberto Della Casa; Lucio Nitsch; generoso andriaAn emerging phenotype of proximal 11q deletions.EUROPEAN JOURNAL OF MEDICAL GENETICS 2010;53(5):340-3.

2008: Virginia M Ginocchio; Daniele De Brasi; RITA GENESIO; Roberto Ciccone; stefania gimelli; Francesco Fimiani; Teresa de Berardinis; Lucio Nitsch; Sandro Banfi; Adriano Magli; Roberto Della CasaSonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.EUROPEAN JOURNAL OF MEDICAL GENETICS 2008;51(6):658-65.

2008: Maria Sellitto; RITA GENESIO; Anna Conti; Floriana Fabbrini; Lucio Nitsch; Maria D'Armiento; letizia capasso; Roberto Paludetto; Francesco RaimondiShort 9q interstitial deletion in a neonate with lethal non-immune hydrops.AMERICAN JOURNAL OF MEDICAL GENETICS. Part A 2008;146A(19):2566-9.

2007: Anna Conti; Floriana Fabbrini; Paola D'Agostino; Rosa Negri; Dario Greco; RITA GENESIO; Maria D'Armiento; Carlo Olla; Dario Paladini; Mariastella Zannini; Lucio NitschAltered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy.BMC GENOMICS 2007;8():268.

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2007. D Melis, F Majo, VM Ginocchio, D De Brasi, L Nitsch, A Conti, GENESIO R, F Fabbrini, P Tedeschi, RD Casa (2007). Combination of monosomy 5p15. 3 and trisomy 9p23: clinical and cytogenetic definition of both conditions . THE ITALIAN JOURNAL OF PEDIATRICS, ISSN: 1720-8424

2006: Luigi Titomanlio; Daniele De Brasi; Alfonso Romano; RITA GENESIO; Alvaro A Diano; Emanuele Miraglia del GiudicePartial cerebellar hypoplasia in a patient with Prader-Willi syndrome.ACTA PAEDIATRICA 2006;95(7):861-3.

2005: Flavia Cerrato; Angela Sparago; Ines Di Matteo; Xiangang Zou; Wendy Dean; Hiroyuki Sasaki; Paul Smith; RITA GENESIO; Marianne Bruggemann; Wolf Reik; Andrea RiccioThe two-domain hypothesis in Beckwith-Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster.HUMAN MOLECULAR GENETICS 2005;14(4):503-11.

2004. Conti A, Fabbrini F, GENESIO R, Nitsch L- (2004). Is molecular cytogenetics a diagnostic answer to idiopathic mental retardation?. THE ITALIAN JOURNAL OF PEDIATRICS, Issn: 1720-8424

2004. GENESIO R, De Brasi D, Conti A, Borghese A, Di Micco P, Di Costanzo P, Paladini D, Ungaro P, Nitsch L. (2004). Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype.AMERICAN JOURNAL OF MEDICAL GENETICS. Part A 2004;128A(4):422-8.

2004: Luigi Titomanlio; Alfonso Romano; Anna Conti; RITA GENESIO; Mariacarolina Salerno; Daniele De Brasi; Lucio Nitsch; Emanuele Miraglia del GiudiceMild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.AMERICAN JOURNAL OF MEDICAL GENETICS. Part A 2004;127A(2):197-200.

2002: Carolina DeChiara; Annamaria Borghese; Andrea Fiorillo; RITA GENESIO; Anna Conti; Rosa D'Amore; Guido Pettinato; Antonio Varone; Giuseppe MaggiCytogenetic evaluation of isochromosome 17q in posterior fossa tumors of children and correlation with clinical outcome in medulloblastoma. Detection of a novel chromosomal abnormality.CHILD'S NERVOUS SYSTEM RY 2002;18(8):380-4.

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Abstract in rivista internazionali

2014. E Cirillo, V Gallo, G Giardino, G Galasso, R Romano, R D'Assante, R Genesio, A Baldini, Digeorge-Like Syndrome in a Child with a 3p12. 3 Deletion Involving MiRNA-4273 Born to a Diabetic MotherJOURNAL OF CLINICAL IMMUNOLOGY, 2014

2013. E Mozzillo, M Delvecchio, R Genesio, R Nugnes, V Fattorusso, E De Nitto, A FranzeseDiabetes mellitus and intestinal ulcers: it's a Wolfram Syndrome 2?DIABETOLOGIA, 2013

2012. Cappuccio G, Ginocchio V, Boemio P, Genesio R, Minopoli G, Casertano A, Granese B, Mormile A, Nitsch L, Andria G, Melis D (2012). An atypical case of Langer-Giedion-syndrome: the role of additional chromosomal abnormalities. EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN: 1018-4813

2012 Ginocchio V, CappuccioG, Boemio P, Genesio R, Minopoli1 G, Casertano A, Mormile A, Tedeschi P, Nitsch L, Andria G, Melis D (2012). J02.14 Facio-audio-symphalangism Syndrome in a patient with partial 17q22monosomy involving NOG gene. EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN: 1018-4813

2012. Melis D, Cappuccio G, Genesio R, Cozzolino M, Boemio P, Vitiello F, Tedeschi P, Della Casa R, Nitsch L, Andria G (2011). P02.153 Partial trisomy of the long arm of chromosome 6 in a family: clinical variability among affected members. EUROPEAN JOURNAL OF MEDICAL GENETICS, ISSN: 1769-7212

2010. Genesio R, Melis D, Boemio P, Mormile A, Ronga V, Gaudieri V, Conti A, Cozzolino M, Cappuccio G, Vitiello F, Nitsch L, Andria G (2010). P03.048 DiGeorge critical region 2 deletion in a patient with delayed psychomotor development and bilateral sensorineural hearing loss. EUROPEAN JOURNAL OF MEDICAL GENETICS, ISSN: 1769-7212

2009. Conti A, Genesio R, Fabbrini F, Izzo A, Ronga V, Mormile A, Melis D, Nitsch L (2009). Variegated silencing of a large Xq region in a case of balanced X;2 translocation. EUROPEAN JOURNAL OF MEDICAL GENETICS, ISSN: 1769-7212

2009. Conti A, Genesio R, Fabbrini F, Izzo A, Ronga V, Mormile A, Melis D, Nitsch L (2009). Variegated silencing of a large Xq region in a case of balanced X;2 translocation. EUROPEAN JOURNAL OF MEDICAL GENETICS, ISSN: 1769-7212

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2008. Fabbrini F, Izzo A, Negri R, Cicatiello R, Ferraro A, Genesio R, Conti A, Nitsch L (2008). Human miRNAs on chromosome 21 are differentially expressed in Down syndrome fetal hearts. EUROPEAN JOURNAL OF MEDICAL GENETICS, ISSN: 1769-7212 2007. Genesio R, Conti A, Fabbrini F, Tedeschi P, Ferrara M, Melis D, Sebastio G, Ciccone R, Zuffardi O, Nitsch (2007). A new case of cryptic unbalanced t(1:12)(q44;p13.3) translocation with polymicrogyria. EUROPEAN JOURNAL OF MEDICAL GENETICS, ISSN: 1769-7212

2006. Genesio R, Quagliata L, Fabbrini F, Melis D, Sebastio G, Conti A, Nitsch L (2006). Derivative X inactivation in a girl with unbalanced X;3 translocation and very mild phenotypic abnormalities. EUROPEAN JOURNAL OF MEDICAL GENETICS, ISSN: 1769-7212

2005. Genesio R, Fabbrini F, Tedeschi P, Ferrara M, Melis D, Sebastio G, Conti A, Nitsch L (2005). Rare proximal interstitial deletion of chromosome 4q in a girl with severe mental and growth retardation. . EUROPEAN JOURNAL OF MEDICAL GENETICS, ISSN: 1769

2003.Genesio R,Fabbrini F, Borghese A, Marsocci E, Conti A, Brunetti Pierri N, Melis D, Sebastio G, Nitsch L (2003). Interstitial Telomeric Sequence In The Chromosome 19 As A Possibile Cause Of A 7;19 Traslocation. ANNALES DE GENETIQUE, ISSN: 0003-3995

2003. F Fabbrini, P D Agostino, D Greco, R Negri, Genesio R, A Conti, S Zannini, L Nitsch (2003). Fetal Heart Gene Expression Profiling To Identify Genes Upregulated In Down Syndrome And Genes Involved In Atrioventricular Septal Defects . ITALIAN JOURNAL OF BIOCHEMISTRY, ISSN: 0021-2938-7212

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La sottoscritta è a conoscenza che, ai sensi dell’art. 26 della legge 15/68, le dichiarazionimendaci, la falsità negli atti e l’uso di atti falsi sono puniti ai sensi del codice penale e delle leggispeciali. Inoltre, il sottoscritto autorizza al trattamento dei dati personali, secondo quanto previstodalla Legge 196/03.

DATA FIRMA 28-02-2016 Genesio Rita

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