Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome
Mussa, Alessandro, Molinatto, Cristina, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Baldassarre, Giuseppina, Carli, Diana, Peris, Clementina, Riccio, Andrea, Ferrero, Giovanni Battista
Published in Pediatrics (Evanston) (01.07.2017)
Published in Pediatrics (Evanston) (01.07.2017)
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Journal Article
Syndromic Disorders Caused by Disturbed Human Imprinting
Carli, Diana, Riberi, Evelise, Ferrero, Giovanni Battista, Mussa, Alessandro
Published in Journal of clinical research in pediatric endocrinology (01.03.2020)
Published in Journal of clinical research in pediatric endocrinology (01.03.2020)
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Journal Article
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum
Mussa, Alessandro, Duffy, Kelly A., Carli, Diana, Griff, Jessica R., Fagiano, Riccardo, Kupa, Jonida, Brodeur, Garrett M., Ferrero, Giovanni Battista, Kalish, Jennifer M.
Published in Journal of cancer research and clinical oncology (01.12.2019)
Published in Journal of cancer research and clinical oncology (01.12.2019)
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Journal Article
Mulibrey nanism and immunological complications: a comprehensive case report and literature review
Gazzin, Andrea, Pala, Francesca, Bosticardo, Marita, Niemela, Julie, Stoddard, Jennifer, Biasin, Eleonora, Quarello, Paola, Carli, Diana, Ferroni, Francesca, Delmonte, Ottavia M, Montin, Davide, Rosenzweig, Sergio D, Licciardi, Francesco, Notarangelo, Luigi D
Published in Frontiers in immunology (05.12.2023)
Published in Frontiers in immunology (05.12.2023)
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Journal Article
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib
Gazzin, Andrea, Fornari, Federico, Cardaropoli, Simona, Carli, Diana, Tartaglia, Marco, Ferrero, Giovanni Battista, Mussa, Alessandro
Published in Life (Basel, Switzerland) (01.06.2024)
Published in Life (Basel, Switzerland) (01.06.2024)
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Journal Article
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question
Quarello, Paola, Perotti, Daniela, Carli, Diana, Giorgio, Elisa, Sirchia, Fabio, Brusco, Alfredo, Ferrero, Giovanni Battista, Mussa, Alessandro, Spadea, Manuela, Ciceri, Sara, Spreafico, Filippo, Fagioli, Franca
Published in Pediatric blood & cancer (01.09.2021)
Published in Pediatric blood & cancer (01.09.2021)
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Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure
Saglia, Claudia, Bracciamà, Valeria, Trotta, Luca, Mioli, Fiorenza, Faini, Angelo Corso, Brach Del Prever, Giulia Margherita, Kalantari, Silvia, Luca, Maria, Romeo, Carmelo Maria, Scolari, Caterina, Peruzzi, Licia, Calvo, Pier Luigi, Mussa, Alessandro, Fenoglio, Roberta, Roccatello, Dario, Alberti, Claudio, Carli, Diana, Amoroso, Antonio, Deaglio, Silvia, Vaisitti, Tiziana
Published in BMC medical genomics (27.11.2023)
Published in BMC medical genomics (27.11.2023)
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Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I
Bonatti, Francesco, Adorni, Alessia, Matichecchia, Annalisa, Mozzoni, Paola, Uliana, Vera, Pisani, Francesco, Garavelli, Livia, Graziano, Claudio, Gnoli, Maria, Carli, Diana, Bigoni, Stefania, Boschi, Elena, Martorana, Davide, Percesepe, Antonio
Published in International journal of molecular sciences (29.09.2017)
Published in International journal of molecular sciences (29.09.2017)
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Journal Article
Esophageal duplication cyst in newborn
Garofalo, Salvatore, Schleef, Jürgen, Guanà, Riccardo, Suteu, Liana, Cortese, Maria Grazia, Carli, Diana, Ferrero, Giovanni Battista, Gennari, Fabrizio
Published in Pediatrics and neonatology (01.02.2020)
Published in Pediatrics and neonatology (01.02.2020)
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Journal Article
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
Trajkova, Slavica, Gregorio, Eleonora Di, Ferrero, Giovanni Battista, Carli, Diana, Pavinato, Lisa, Delplancq, Geoffroy, Kuentz, Paul, Brusco, Alfredo
Published in Brain sciences (01.11.2020)
Published in Brain sciences (01.11.2020)
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Journal Article
VACTERL (Vertebral Defects, Anal Atresia, Tracheoesophageal Fistula with Esophageal Atresia, Cardiac Defects, Renal and Limb Anomalies) Association: Disease Spectrum in 25 Patients Ascertained for Their Upper Limb Involvement
Carli, Diana, MD, Garagnani, Lorenzo, MD, Lando, Mario, MD, Fairplay, Tracy, PT, Bernasconi, Sergio, MD, Landi, Antonio, MD, Percesepe, Antonio, MD
Published in The Journal of pediatrics (01.03.2014)
Published in The Journal of pediatrics (01.03.2014)
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Journal Article
Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study
Uliana, Vera, Sebastio, Paola, Riva, Matteo, Carli, Diana, Ruberto, Claudio, Bianchi, Laura, Graziano, Claudio, Capelli, Irene, Faletra, Flavio, Pillon, Roberto, Mattina, Teresa, Sensi, Alberto, Bonatti, Francesco, Percesepe, Antonio
Published in Molecular genetics & genomic medicine (01.02.2021)
Published in Molecular genetics & genomic medicine (01.02.2021)
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Journal Article
Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic
Carli, Diana, Fairplay, Tracy, Ferrari, Paola, Sartini, Silvana, Lando, Mario, Garagnani, Lorenzo, Di Gennaro, Giovanni Luigi, Di Pancrazio, Luciana, Bianconi, Giorgia, Elmakky, Amira, Bernasconi, Sergio, Landi, Antonio, Percesepe, Antonio
Published in Birth defects research. A Clinical and molecular teratology (01.12.2013)
Published in Birth defects research. A Clinical and molecular teratology (01.12.2013)
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Journal Article
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated With In Vitro Fertilization
Carli, Diana, Ferrero, Giovanni Battista, Mussa, Alessandro
Published in JAMA pediatrics (01.10.2019)
Published in JAMA pediatrics (01.10.2019)
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Journal Article
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians
Defabianis, Patrizia, Mussa, Alessandro, Ninivaggi, Rossella, Carli, Diana, Romano, Federica
Published in International journal of environmental research and public health (20.02.2022)
Published in International journal of environmental research and public health (20.02.2022)
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Journal Article
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing
Carli, Diana, Bertola, Chiara, Cardaropoli, Simona, Ciuffreda, Valentina Pia, Pieretto, Marta, Ferrero, Giovanni Battista, Mussa, Alessandro
Published in Journal of medical genetics (01.12.2021)
Published in Journal of medical genetics (01.12.2021)
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Journal Article
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway
Carli, Diana, Resta, Nicoletta, Ferrero, Giovanni Battista, Ruggieri, Martino, Mussa, Alessandro
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2022)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2022)
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Journal Article
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
Reynolds, Giuseppe, Cardaropoli, Simona, Carli, Diana, Luca, Maria, Gazzin, Andrea, Coppo, Paola, La Selva, Roberta, Piglionica, Marilidia, Bagnulo, Rosanna, Turchiano, Antonella, Ranieri, Carlotta, Resta, Nicoletta, Mussa, Alessandro
Published in European journal of human genetics : EJHG (01.11.2023)
Published in European journal of human genetics : EJHG (01.11.2023)
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Journal Article
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth
Luca, Maria, Piglionica, Marilidia, Bagnulo, Rosanna, Cardaropoli, Simona, Carli, Diana, Turchiano, Antonella, Coppo, Paola, Pantaleo, Antonino, Iacoviello, Matteo, Ferrero, Giovanni Battista, Mussa, Alessandro, Resta, Nicoletta
Published in Genes chromosomes & cancer (01.12.2023)
Published in Genes chromosomes & cancer (01.12.2023)
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Journal Article
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth
Carli, Diana, De Pellegrin, Maurizio, Franceschi, Luisa, Zinali, Federica, Paonessa, Matteo, Spolaore, Simone, Cardaropoli, Simona, Cravino, Mattia, Marcucci, Lorenzo, Andreacchio, Antonio, Resta, Nicoletta, Ferrero, Giovanni Battista, Mussa, Alessandro
Published in The Journal of pediatrics (01.07.2021)
Published in The Journal of pediatrics (01.07.2021)
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