Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients

Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni, Giorgio Tasca, Mauro Monforte, Stefania Zampatti, Guido Primiano, Cristina Sancricca, Sara Bortolani, Eleonora Torchia, Beatrice Ravera, Francesca Torri, Giulio Gadaleta, Barbara Risi, Filomena Caria, Francesca Gerardi, Elena Carraro, Valeria Gioiosa, Matteo Garibaldi, Laura Tufano, Erica Frezza, Roberto Massa, Carlo Caltagirone, Elena Maria Pennisi, Antonio Petrucci, Marika Pane, Annalia Frongia, Francesca Gragnani, Marianna Scutifero, Paola Mandich, Marina Grandis, Maria Antonietta Maioli, Carlo Casali, Elisabetta Manfroi, Luisa Politano, Luigia Passamano, Roberta Petillo, Carmelo Rodolico, Alessia Pugliese, Stefano Carlo Previtali, Valeria Sansone, Liliana Vercelli, Tiziana Enrica Mongini, Giulia Ricci, Gabriele Siciliano, Massimiliano Filosto, Enzo Ricci, Raffaella Cascella, Emiliano Giardina, Unknown

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DOI: 10.1186/s13148-024-01747-2
Published: 2024-10-22
Container: Clinical Epigenetics
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1186/s13148-024-01747-2,
  title = {Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients},
  author = {Claudia Strafella and Domenica Megalizzi and Giulia Trastulli and Emma Proietti Piorgo and Luca Colantoni and Giorgio Tasca and Mauro Monforte and Stefania Zampatti and Guido Primiano and Cristina Sancricca and Sara Bortolani and Eleonora Torchia and Beatrice Ravera and Francesca Torri and Giulio Gadaleta and Barbara Risi and Filomena Caria and Francesca Gerardi and Elena Carraro and Valeria Gioiosa and Matteo Garibaldi and Laura Tufano and Erica Frezza and Roberto Massa and Carlo Caltagirone and Elena Maria Pennisi and Antonio Petrucci and Marika Pane and Annalia Frongia and Francesca Gragnani and Marianna Scutifero and Paola Mandich and Marina Grandis and Maria Antonietta Maioli and Carlo Casali and Elisabetta Manfroi and Luisa Politano and Luigia Passamano and Roberta Petillo and Carmelo Rodolico and Alessia Pugliese and Stefano Carlo Previtali and Valeria Sansone and Liliana Vercelli and Tiziana Enrica Mongini and Giulia Ricci and Gabriele Siciliano and Massimiliano Filosto and Enzo Ricci and Raffaella Cascella and Emiliano Giardina and Unknown},
  year = {2024},
  journal = {Clinical Epigenetics},
  doi = {10.1186/s13148-024-01747-2},
  url = {https://doi.org/10.1186/s13148-024-01747-2}
}

RIS

TY  - JOUR
TI  - Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
AU  - Claudia Strafella
AU  - Domenica Megalizzi
AU  - Giulia Trastulli
AU  - Emma Proietti Piorgo
AU  - Luca Colantoni
AU  - Giorgio Tasca
AU  - Mauro Monforte
AU  - Stefania Zampatti
AU  - Guido Primiano
AU  - Cristina Sancricca
AU  - Sara Bortolani
AU  - Eleonora Torchia
AU  - Beatrice Ravera
AU  - Francesca Torri
AU  - Giulio Gadaleta
AU  - Barbara Risi
AU  - Filomena Caria
AU  - Francesca Gerardi
AU  - Elena Carraro
AU  - Valeria Gioiosa
AU  - Matteo Garibaldi
AU  - Laura Tufano
AU  - Erica Frezza
AU  - Roberto Massa
AU  - Carlo Caltagirone
AU  - Elena Maria Pennisi
AU  - Antonio Petrucci
AU  - Marika Pane
AU  - Annalia Frongia
AU  - Francesca Gragnani
AU  - Marianna Scutifero
AU  - Paola Mandich
AU  - Marina Grandis
AU  - Maria Antonietta Maioli
AU  - Carlo Casali
AU  - Elisabetta Manfroi
AU  - Luisa Politano
AU  - Luigia Passamano
AU  - Roberta Petillo
AU  - Carmelo Rodolico
AU  - Alessia Pugliese
AU  - Stefano Carlo Previtali
AU  - Valeria Sansone
AU  - Liliana Vercelli
AU  - Tiziana Enrica Mongini
AU  - Giulia Ricci
AU  - Gabriele Siciliano
AU  - Massimiliano Filosto
AU  - Enzo Ricci
AU  - Raffaella Cascella
AU  - Emiliano Giardina
AU  - Unknown
PY  - 2024
JO  - Clinical Epigenetics
DO  - 10.1186/s13148-024-01747-2
UR  - https://doi.org/10.1186/s13148-024-01747-2
ER  -

APA

Strafella, C., Megalizzi, D., Trastulli, G., Piorgo, E. P., Colantoni, L., Tasca, G., Monforte, M., Zampatti, S., Primiano, G., Sancricca, C., Bortolani, S., Torchia, E., Ravera, B., Torri, F., Gadaleta, G., Risi, B., Caria, F., Gerardi, F., Carraro, E., Gioiosa, V., Garibaldi, M., Tufano, L., Frezza, E., Massa, R., Caltagirone, C., Pennisi, E. M., Petrucci, A., Pane, M., Frongia, A., Gragnani, F., Scutifero, M., Mandich, P., Grandis, M., Maioli, M. A., Casali, C., Manfroi, E., Politano, L., Passamano, L., Petillo, R., Rodolico, C., Pugliese, A., Previtali, S. C., Sansone, V., Vercelli, L., Mongini, T. E., Ricci, G., Siciliano, G., Filosto, M., Ricci, E., Cascella, R., Giardina, E., & Unknown (2024). Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients. Clinical Epigenetics. https://doi.org/10.1186/s13148-024-01747-2

Source records

crossref · retrieved 2026-09-26T15:40:12.763Z