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1

Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?

Manuela De Gregori, Tiziano Pramparo, Luigi Memo, Giorgio Gimelli, Jole Messa, Mariano Rocchi, Maria Grazia Patricelli, Roberto Ciccone, Roberto Giorda, Orsetta Zuffardi

Journal:

Year:

2005

Language:

english

File:

PDF, 388 KB

english, 2005

2

MRI versus CT in acute stroke

Alfonso Ciccone, Roberto Sterzi, Luca Munari

Journal:

Year:

2007

Language:

english

File:

PDF, 50 KB

english, 2007

3

Nutraceuticals and dyslipidaemia: Beyond the common therapeutics

Scicchitano, Pietro, Cameli, Matteo, Maiello, Maria, Modesti, Pietro Amedeo, Muiesan, Maria Lorenza, Novo, Salvatore, Palmiero, Pasquale, Saba, Pier Sergio, Pedrinelli, Roberto, Ciccone, Marco Matteo

Journal:

Journal of Functional Foods

Year:

2014

Language:

english

File:

PDF, 990 KB

english, 2014

4

AIP Conference Proceedings [AIP Publishing CENTRAL EUROPEAN SYMPOSIUM ON THERMOPHYSICS 2019 (CEST) - Banska Bystrica, Slovakia (16–18 October 2019)] CENTRAL EUROPEAN SYMPOSIUM ON THERMOPHYSICS 2019 (CEST) - Numerical simulation of monotonic tests on beam-column timber joints equipped with steel links for heavy timber seismic resistant MRF

Faggiano, Beatrice, Iovane, Giacomo, Tartaglia, Roberto, Ciccone, Giuseppe, Landolfo, Raffaele, Mazzolani, Federico M., Andreolli, Mauro, Tomasi, Roberto, Piazza, Maurizio

Year:

2019

Language:

english

File:

PDF, 799 KB

english, 2019

5

Early Initiation of Sacubitril/Valsartan in Patients with Chronic Heart Failure After Acute Decompensation: A Case Series Analysis

Acanfora, Domenico, Scicchitano, Pietro, Acanfora, Chiara, Maestri, Roberto, Goglia, Fernando, Incalzi, Raffaele Antonelli, Bortone, Alessandro Santo, Ciccone, Marco Matteo, Uguccioni, Massimo, Casucc

Journal:

Clinical Drug Investigation

Year:

2020

Language:

english

File:

PDF, 913 KB

english, 2020

6

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation

Tiziano Pramparo, Manuela de Gregori, Stefania Gimelli, Roberto Ciccone, Domenico Frondizi, Thomas Liehr, Simona Pellacani, Gabriele Masi, Paola Brovedani, Orsetta Zuffardi, Renzo Guerrini

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 396 KB

english, 2008

7

Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature

Fortunato Lonardo, Lucia Perone, Marianna Maioli, Maria Ciavarella, Roberto Ciccone, Matteo Della Monica, Cinzia Lombardi, Luisa Forino, Giuseppina Cantalupo, Lucia Masella, Francesca Scarano

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.38 MB

english, 2011

8

Common structural features characterize interstitial intrachromosomal Xp and 18q triplications

Roberto Giorda, Silvana Beri, M. Clara Bonaglia, Luigina Spaccini, Barbara Scelsa, Emmanouil Manolakos, Erika Della Mina, Roberto Ciccone, Orsetta Zuffardi

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 545 KB

english, 2011

9

Circulating endothelial cells in patients with chronic lymphocytic leukemia : Clinical-prognostic and biologic significance

Gian Matteo Rigolin, Rossana Maffei, Lara Rizzotto, Maria Ciccone, Olga Sofritti, Giulia Daghia, Francesca Cibien, Francesco Cavazzini, Roberto Marasca, Antonio Cuneo

Journal:

Year:

2010

Language:

english

File:

PDF, 419 KB

english, 2010

10

A Novel surface molecule expressed by long-term cultured T and natural killer cells is involved in cell activation

Silvano Ferrini, Claudia Cantoni, Ermanno Ciccone, Roberto Biassoni, Ignazia Prigione, Cristina Bottino, Paola Venzano, Lorenzo Moretta

Journal:

European Journal of Immunology

Year:

1991

Language:

english

File:

PDF, 731 KB

english, 1991

11

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2

Roberto Giorda, Roberto Ciccone, Giorgio Gimelli, Tiziano Pramparo, Silvana Beri, Maria Clara Bonaglia, Sabrina Giglio, Maurizio Genuardi, Jesùs Argente, Mariano Rocchi, Orsetta Zuffardi

Journal:

Year:

2007

Language:

english

File:

PDF, 472 KB

english, 2007

12

Factors affecting pattern of care and survival in a population-based cohort of non-small-cell lung cancer incident cases

Eva Pagano, Claudia Filippini, Daniela Di Cuonzo, Enrico Ruffini, Roberto Zanetti, Stefano Rosso, Oscar Bertetto, Franco Merletti, Giovannino Ciccone

Journal:

Cancer Epidemiology

Year:

2010

Language:

english

File:

PDF, 203 KB

english, 2010

13

The prognostic role of immunohistochemical chromogranin a expression in prostate cancer patients is significantly modified by androgen-deprivation therapy

Alfredo Berruti, Enrico Bollito, Cecilia M. Cracco, Marco Volante, Giovannino Ciccone, Francesco Porpiglia, Mauro Papotti, Roberto Mario Scarpa, Luigi Dogliotti

Journal:

Year:

2010

Language:

english

File:

PDF, 123 KB

english, 2010

14

Evolutionary and clinical neocentromeres: two faces of the same coin?

Oronzo Capozzi, Stefania Purgato, Ludovica Verdun di Cantogno, Enrico Grosso, Roberto Ciccone, Orsetta Zuffardi, Giuliano Della Valle, Mariano Rocchi

Journal:

Year:

2008

Language:

english

File:

PDF, 294 KB

english, 2008

15

Reciprocal translocations: a trap for cytogenetists?

Roberto Ciccone, Roberto Giorda, Giuliana Gregato, Renzo Guerrini, Sabrina Giglio, Romeo Carrozzo, Maria Clara Bonaglia, Emanuela Priolo, Carmelo Laganà, Romano Tenconi, Mariano Rocchi, Tiziano Prampa

Journal:

Year:

2005

Language:

english

File:

PDF, 629 KB

english, 2005

16

Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood

Francesca Novara, Silvana Beri, Maria Ester Bernardo, Riccardo Bellazzi, Alberto Malovini, Roberto Ciccone, Angela Maria Cometa, Franco Locatelli, Roberto Giorda, Orsetta Zuffardi

Journal:

Year:

2009

Language:

english

File:

PDF, 593 KB

english, 2009

17

Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects

Nicoletta Resta, Roberto Giorda, Rosanna Bagnulo, Silvana Beri, Erika Della Mina, Alessandro Stella, Marilidia Piglionica, Francesco Claudio Susca, Ginevra Guanti, Orsetta Zuffardi, Roberto Ciccone

Journal:

Year:

2010

Language:

english

File:

PDF, 466 KB

english, 2010

18

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

Milena Cau, Maria Addis, Rita Congiu, Cristiana Meloni, Antonio Cao, Simona Santaniello, Mario Loi, Francesco Emma, Orsetta Zuffardi, Roberto Ciccone, Gabriella Sole, Maria Antonietta Melis

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 255 KB

english, 2006

19

Epidemiological, clinical, and therapeutic aspects of primary intracerebral hemorrhage

Alfonso Ciccone, Mario Pozzi, Cristina Motto, Pietro Tiraboschi, Roberto Sterzi

Journal:

Neurological Sciences

Year:

2008

Language:

english

File:

PDF, 34 KB

english, 2008

20

Quality of life evaluation in patients affected by osteoarthritis secondary to congenital hip dysplasia after total hip replacement

Alessandra Tellini, Vincenza Ciccone, Davide Blonna, Roberto Rossi, Antongiulio Marmotti, Filippo Castoldi

Journal:

Journal of Orthopaedics and Traumatology

Year:

2008

Language:

english

File:

PDF, 205 KB

english, 2008

21

The impact of record-linkage bias in the Cox model

Ileana Baldi, Antonio Ponti, Roberto Zanetti, Giovannino Ciccone, Franco Merletti, Dario Gregori

Journal:

Journal of Evaluation in Clinical Practice

Year:

2010

Language:

english

File:

PDF, 150 KB

english, 2010

22

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

Bonaglia, Maria Clara, Ciccone, Roberto, Gimelli, Giorgio, Gimelli, Stefania, Marelli, Susan, Verheij, Joke, Giorda, Roberto, Grasso, Rita, Borgatti, Renato, Pagone, Filomena

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 217 KB

english, 2008

23

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion

Torniero, Claudia, Dalla Bernardina, Bernardo, Novara, Francesca, Cerini, Roberto, Bonaglia, Clara, Pramparo, Tiziano, Ciccone, Roberto, Guerrini, Renzo, Zuffardi, Orsetta

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 250 KB

english, 2008

24

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Brunetti-Pierri, Nicola, Paciorkowski, Alex R, Ciccone, Roberto, Mina, Erika Della, Bonaglia, Maria Clara, Borgatti, Renato, Schaaf, Christian P, Sutton, V Reid, Xia, Zhilian, Jelluma, Naftha

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 377 KB

english, 2010

25

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Gervasini, Cristina, Mottadelli, Federica, Ciccone, Roberto, Castronovo, Paola, Milani, Donatella, Scarano, Gioacchino, Bedeschi, Maria Francesca, Belli, Serena, Pilotta, Alba, Selicorni, Angelo

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 632 KB

english, 2010

26

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 693 KB

english, 2008

27

Inverted duplications: how many of them are mosaic?

Pramparo, Tiziano, Giglio, Sabrina, Gregato, Giuliana, de Gregori, Manuela, Grazia Patricelli, Maria, Ciccone, Roberto, Scappaticci, Susi, Mannino, Gaetano, Lombardi, Claudio, Pirola, Barbara

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 143 KB

english, 2004

28

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Vermeesch, Joris Robert, Fiegler, Heike, de Leeuw, Nicole, Szuhai, Karoly, Schoumans, Jacqueline, Ciccone, Roberto, Speleman, Frank, Rauch, Anita, Clayton-Smith, Jill, Van Ravenswaaij, Conny

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 125 KB

english, 2007

29

Randomised trials of endovascular treatment of stroke are needed

Alfonso Ciccone, Roberto Sterzi

Journal:

The Lancet Neurology

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

30

Impact of initial pattern of care on hospital costs in a cohort of incident lung cancer cases

Eva Pagano, Dario Gregori, Claudia Filippini, Daniela Di Cuonzo, Enrico Ruffini, Roberto Zanetti, Stefano Rosso, Oscar Bertetto, Franco Merletti, Giovannino Ciccone

Journal:

Journal of Evaluation in Clinical Practice

Year:

2012

Language:

english

File:

PDF, 643 KB

english, 2012

31

A Novel Human Homologue of the SH3BGR Gene Encodes a Small Protein Similar to Glutaredoxin 1 of Escherichia coli

Michela Mazzocco, Patrizio Arrigo, Aliana Egeo, Massimo Maffei, Alessandro Vergano, Raffaella Di Lisi, Fabio Ghiotto, Ermanno Ciccone, Roberta Cinti, Roberto Ravazzolo, Paolo Scartezzini

Journal:

Biochemical and Biophysical Research Communications

Year:

2001

Language:

english

File:

PDF, 621 KB

english, 2001

32

O16: Few duplicons make the most noise

Tiziano Pramparo, Roberto Ciccone, Roberto Giorda, Maria Clara Bonaglia, Marguerite Prieur, Marcella Zollino, Orsetta Zuffardi

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 52 KB

english, 2005

33

Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH

Manuela Priolo, Roberto Ciccone, Irene Bova, Giovanna Campolo, Carmelo Laganà, Orsetta Zuffardi

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 187 KB

english, 2007

34

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome

Maria Addis, Cristiana Meloni, Rita Congiu, Simona Santaniello, Francesco Emma, Orsetta Zuffardi, Roberto Ciccone, Antonio Cao, Maria Antonietta Melis, Milena Cau

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 388 KB

english, 2007

35

A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea

Elena Rossi, Anna Pia Verri, Maria Grazia Patricelli, Valeria Destefani, Ivana Ricca, Annalisa Vetro, Roberto Ciccone, Roberto Giorda, Daniela Toniolo, Paola Maraschio, Orsetta Zuffardi

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 282 KB

english, 2008

36

Concurrent transposition of distal 6p and 20q to the 22q telomere: A recurrent benign chromosomal variant

Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Gregory B. Peters, Edwin P. Kirk, Dorothy Hung, Roberto Ciccone, Giulietta Gottardi, Orsetta Zuffardi

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 671 KB

english, 2008

37

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly

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 Casa

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 251 KB

english, 2008

38

Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation

Maria Piccione, Ettore Piro, Francesca Serraino, Simona Cavani, Roberto Ciccone, Michela Malacarne, Mauro Pierluigi, Marianna Vitaloni, Orsetta Zuffardi, Giovanni Corsello

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 668 KB

english, 2012

39

A high positive predictive value algorithm using hospital administrative data identified incident cancer cases

Ileana Baldi, Piera Vicari, Daniela Di Cuonzo, Roberto Zanetti, Eva Pagano, Rosalba Rosato, Carlotta Sacerdote, Nereo Segnan, Franco Merletti, Giovannino Ciccone

Journal:

Journal of Clinical Epidemiology

Year:

2008

Language:

english

File:

PDF, 162 KB

english, 2008

40

α-Synuclein multiplication analysis in Italian familial Parkinson disease

Francesca Sironi, Luca Trotta, Angelo Antonini, Michela Zini, Roberto Ciccone, Erika Della Mina, Nicoletta Meucci, Giorgio Sacilotto, Paola Primignani, Tiziana Brambilla, Domenico A. Coviello, Gianni

Journal:

Parkinsonism & Related Disorders

Year:

2010

Language:

english

File:

PDF, 227 KB

english, 2010

41

Subarachnoid haemorrhage treated with anticoagulants

Alfonso Ciccone, Alberto Citterio, Ignazio Santilli, Roberto Sterzi

Journal:

Year:

2000

Language:

english

File:

PDF, 70 KB

english, 2000

42

Validity of hospital morbidity records for amyotrophic lateral sclerosis: A population-based study

Adriano Chiò, Giovannino Ciccone, Andrea Calvo, Marco Vercellino, Nicoletta Di Vito, Paolo Ghiglione, Roberto Mutani

Journal:

Journal of Clinical Epidemiology

Year:

2002

File:

PDF, 95 KB

2002

43

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications

Bonaglia, Maria Clara, Giorda, Roberto, Massagli, Angelo, Galluzzi, Rita, Ciccone, Roberto, Zuffardi, Orsetta

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 312 KB

english, 2009

44

Endovascular Treatment for Acute Ischemic Stroke

Ciccone, Alfonso, Valvassori, Luca, Nichelatti, Michele, Sgoifo, Annalisa, Ponzio, Michela, Sterzi, Roberto, Boccardi, Edoardo

Journal:

Boston Medical and Surgical Journal

Year:

2013

Language:

english

File:

PDF, 578 KB

english, 2013

45

Design of a novel LOX-1 receptor antagonist mimicking the natural substrate

Falconi, Mattia, Ciccone, Sarah, D’Arrigo, Paola, Viani, Fiorenza, Sorge, Roberto, Novelli, Giuseppe, Patrizi, Patrizia, Desideri, Alessandro, Biocca, Silvia

Journal:

Biochemical and Biophysical Research Communications

Year:

2013

Language:

english

File:

PDF, 1.01 MB

english, 2013

46

MECP2duplication phenotype in symptomatic females: report of three further cases

Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 413 KB

english, 2014

47

Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene

Bayindir, Baran, Piazza, Elena, Della Mina, Erika, Limongelli, Ivan, Brustia, Francesca, Ciccone, Roberto, Veggiotti, Pierangelo, Zuffardi, Orsetta, Dehghani, Mohammed Reza

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 1.97 MB

english, 2013

48

MEF2C deletions and mutations versus duplications: A clinical comparison

Novara, Francesca, Rizzo, Ambra, Bedini, Gloria, Girgenti, Vita, Esposito, Silvia, Pantaleoni, Chiara, Ciccone, Roberto, Sciacca, Francesca L., Achille, Valentina, Della Mina, Erika, Gana, Simone, Zuf

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 1.24 MB

english, 2013

49

5p13 microduplication syndrome: A new case and better clinical definition of the syndrome

Novara, Francesca, Alfei, Enrico, D'Arrigo, Stefano, Pantaleoni, Chiara, Beri, Silvana, Achille, Valentina, Sciacca, Francesca L., Giorda, Roberto, Zuffardi, Orsetta, Ciccone, Roberto

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 492 KB

english, 2013

50

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Mina, Erika Della, Ciccone, Roberto, Brustia, Francesca, Bayindir, Baran, Limongelli, Ivan, Vetro, Annalisa, Iascone, Maria, Pezzoli, Laura, Bellazzi, Riccardo, Perotti, Gianfranco, De Giorgis, Valent

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.11 MB

english, 2015

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