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1

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Bliek, Jet, Verde, Gaetano, Callaway, Jonathan, Maas, Saskia M, De Crescenzo, Agostina, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Ferraiuolo, Serena, Rinaldi, Maria Michela

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 332 KB

english, 2008

2

Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

Fatemi, Nayeralsadat, Salehi, Najmeh, Pignata, Laura, Palumbo, Pietro, Cubellis, Maria Vittoria, Ramazanali, Fariba, Ray, Pierre, Varkiani, Maryam, Reyhani-Sabet, Fakhreddin, Biglari, Alireza, Sparago

Journal:

Journal of Medical Genetics

Year:

2020

File:

PDF, 1.27 MB

2020

3

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

Cerrato, F., Sparago, A., Verde, G., De Crescenzo, A., Citro, V., Cubellis, M. V., Rinaldi, M. M., Boccuto, L., Neri, G., Magnani, C., D'Angelo, P., Collini, P., Perotti, D., Sebastio, G., Maher, E. R

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 462 KB

english, 2008

4

The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype

Sparago, Angela, Verma, Ankit, Patricelli, Maria Grazia, Pignata, Laura, Russo, Silvia, Calzari, Luciano, De Francesco, Naomi, Del Prete, Rosita, Palumbo, Orazio, Carella, Massimo, Mackay, Deborah J.

Journal:

Clinical Epigenetics

Year:

2019

File:

PDF, 1.42 MB

2019

5

DNA Methylation in the Diagnosis of Monogenic Diseases

Cerrato, Flavia, Sparago, Angela, Ariani, Francesca, Brugnoletti, Fulvia, Calzari, Luciano, CoppedÃ¨, Fabio, De Luca, Alessandro De, Gervasini, Cristina, Giardina, Emiliano, Gurrieri, Fiorella, Lo Nig

Journal:

Year:

2020

File:

PDF, 441 KB

2020

6

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

Sparago, Angela, Cerrato, Flavia, Vernucci, Maria, Ferrero, Giovanni Battista, Silengo, Margherita Cirillo, Riccio, Andrea

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 377 KB

english, 2004

7

Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1

Baglivo, Ilaria, Esposito, Sabrina, De Cesare, Lucia, Sparago, Angela, Anvar, Zahra, Riso, Vincenzo, Cammisa, Marco, Fattorusso, Roberto, Grimaldi, Giovanna, Riccio, Andrea, Pedone, Paolo V.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.61 MB

english, 2013

8

ThePEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus

Court, Franck, Camprubi, Cristina, Garcia, Cristina, Guillaumet-Adkins, Amy, Sparago, Angela, Seruggia, Davide, Sandoval, Juan, Esteller, Manel, Martin-Trujillo, Alex, Riccio, Andrea, Montoliu, Lluis,

Journal:

Epigenetics & Chromatin

Year:

2014

Language:

english

File:

PDF, 821 KB

english, 2014

9

Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction

De Crescenzo, A., Sparago, A., Cerrato, F., Palumbo, O., Carella, M., Miceli, M., Bronshtein, M., Riccio, A., Yaron, Y.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 210 KB

english, 2013

10

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

Chiesa, N., De Crescenzo, A., Mishra, K., Perone, L., Carella, M., Palumbo, O., Mussa, A., Sparago, A., Cerrato, F., Russo, S., Lapi, E., Cubellis, M. V., Kanduri, C., Cirillo Silengo, M., Riccio, A.,

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 899 KB

english, 2012

11

Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice

Freschi, Andrea, Hur, Stella K., Valente, Federica Maria, Ideraabdullah, Folami Y., Sparago, Angela, Gentile, Maria Teresa, Oneglia, Andrea, Di Nucci, Diego, Colucci-D’Amato, Luca, Thorvaldsen, Joanne

Journal:

Year:

2018

Language:

english

File:

PDF, 6.65 MB

english, 2018

12

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Cubellis, Maria Vittoria, Pignata, Laura, Verma, Ankit, Sparago, Angela, Del Prete, Rosita, Monticelli, Maria, Calzari, Luciano, Antona, Vincenzo, Melis, Daniela, Tenconi, Romano, Russo, Silvia, Cerra

Journal:

Clinical Epigenetics

Year:

2020

File:

PDF, 1.48 MB

2020

13

Familial posterior helical ear pits

Andrea Guala, Roberta Guarino, Angela Sparago, Andrea Riccio, Piergiorgio Franceschini

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 157 KB

english, 2007

14

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome

Nativio, R., Sparago, A., Ito, Y., Weksberg, R., Riccio, A., Murrell, A.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 537 KB

english, 2011

15

Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop

Iglesias-Platas, I., Court, F., Camprubi, C., Sparago, A., Guillaumet-Adkins, A., Martin-Trujillo, A., Riccio, A., Moore, G. E., Monk, D.

Journal:

Nucleic Acids Research

Year:

2013

Language:

english

File:

PDF, 6.19 MB

english, 2013

16

ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells

Anvar, Zahra, Cammisa, Marco, Riso, Vincenzo, Baglivo, Ilaria, Kukreja, Harpreet, Sparago, Angela, Girardot, Michael, Lad, Shraddha, De Feis, Italia, Cerrato, Flavia, Angelini, Claudia, Feil, Robert,

Journal:

Nucleic Acids Research

Year:

2015

Language:

english

File:

PDF, 868 KB

english, 2015

17

Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?

Sparago, Angela, Cerrato, Flavia, Riccio, Andrea

Journal:

Clinical Epigenetics

Year:

2018

Language:

english

File:

PDF, 1018 KB

english, 2018

18

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

Priolo, Manuela, Sparago, Angela, Mammì, Corrado, Cerrato, Flavia, Laganà, Carmelo, Riccio, Andrea

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 245 KB

english, 2008

19

Structure–activity relationships of Candida rugosa lipase immobilized on polylactic acid nanoparticles

Chronopoulou, Laura, Kamel, Gihan, Sparago, Carolina, Bordi, Federico, Lupi, Stefano, Diociaiuti, Marco, Palocci, Cleofe

Journal:

Year:

2011

Language:

english

File:

PDF, 477 KB

english, 2011

20

A modular microfluidic platform for the synthesis of biopolymeric nanoparticles entrapping organic actives

Chronopoulou, Laura, Sparago, Carolina, Palocci, Cleofe

Journal:

Journal of Nanoparticle Research

Year:

2014

Language:

english

File:

PDF, 1.08 MB

english, 2014

21

A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype

De Crescenzo, Agostina, Citro, Valentina, Freschi, Andrea, Sparago, Angela, Palumbo, Orazio, Cubellis, Maria Vittoria, Carella, Massimo, Castelluccio, Pia, Cavaliere, Maria Luigia, Cerrato, Flavia, Ri

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.07 MB

english, 2015

22

ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells

Riso, Vincenzo, Cammisa, Marco, Kukreja, Harpreet, Anvar, Zahra, Verde, Gaetano, Sparago, Angela, Acurzio, Basilia, Lad, Shraddha, Lonardo, Enza, Sankar, Aditya, Helin, Kristian, Feil, Robert, Fico, A

Journal:

Nucleic Acids Research

Year:

2016

Language:

english

File:

PDF, 4.98 MB

english, 2016

23

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKγ dene deletion

Tiziana Bardaro, Geppino Falco, Angela Sparago, Vincenzo Mercadante, Esther Gean Molins, Enrico Tarantino, Matilde Valeria Ursini, Michele D'Urso

Journal:

Year:

2003

Language:

english

File:

PDF, 145 KB

english, 2003

24

Gender specific transmission across generations of behavioral effects induced by maternal exposure to moderate doses of corticosterone during lactation

C. Cinque, A.R. Zuena, C. Giuli, M.L. Sparago, A. Di Meglio, P. Casolini

Journal:

International Journal of Developmental Neuroscience

Year:

2010

Language:

english

File:

PDF, 63 KB

english, 2010

25

Reply to "Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor"

Cerrato, Flavia, Sparago, Angela, Farina, Lucia, Ferrero, Giovanni Battista, Silengo, Margherita Cirillo, Riccio, Andrea

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 140 KB

english, 2005

26

Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

Cardarelli, Laura, Sparago, Angela, De Crescenzo, Agostina, Nalesso, Elisa, Zavan, Barbara, Cubellis, Maria Vittoria, Selicorni, Angelo, Cavicchioli, Paola, Pozzan, Giovanni Battista, Petrella, Marile

Journal:

Pediatric and Developmental Pathology

Year:

2010

Language:

english

File:

PDF, 577 KB

english, 2010

27

Distinct Methylation Changes at the IGF2-H19 Locus in Congenital Growth Disorders and Cancer

Murrell, Adele, Ito, Yoko, Verde, Gaetano, Huddleston, Joanna, Woodfine, Kathryn, Silengo, Margherita Cirillo, Spreafico, Filippo, Perotti, Daniela, De Crescenzo, Agostina, Sparago, Angela, Cerrato, F

Journal:

Year:

2008

Language:

english

File:

PDF, 278 KB

english, 2008

28

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

Beygo, J., Citro, V., Sparago, A., De Crescenzo, A., Cerrato, F., Heitmann, M., Rademacher, K., Guala, A., Enklaar, T., Anichini, C., Cirillo Silengo, M., Graf, N., Prawitt, D., Cubellis, M. V., Horst

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 467 KB

english, 2013

29

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

Boonen, Susanne Eriksen, Freschi, Andrea, Christensen, Rikke, Valente, Federica Maria, Lildballe, Dorte Launholt, Perone, Lucia, Palumbo, Orazio, Carella, Massimo, Uldbjerg, Niels, Sparago, Angela, Ri

Journal:

Clinical Epigenetics

Year:

2016

Language:

english

File:

PDF, 1.48 MB

english, 2016

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