Search Results - "Carli, Diana"

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome by Mussa, Alessandro, Molinatto, Cristina, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Baldassarre, Giuseppina, Carli, Diana, Peris, Clementina, Riccio, Andrea, Ferrero, Giovanni Battista

“…The emerging association of assisted reproductive techniques (ART) with imprinting disorders represents a major issue in the scientific debate on infertility…”
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Syndromic Disorders Caused by Disturbed Human Imprinting by Carli, Diana, Riberi, Evelise, Ferrero, Giovanni Battista, Mussa, Alessandro

“…Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic imprinting, affecting prenatal and postnatal growth, neurocognitive…”
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The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum by Mussa, Alessandro, Duffy, Kelly A., Carli, Diana, Griff, Jessica R., Fagiano, Riccardo, Kupa, Jonida, Brodeur, Garrett M., Ferrero, Giovanni Battista, Kalish, Jennifer M.

“…Purpose It is well documented that patients with Beckwith–Wiedemann spectrum (BWS) have a significantly higher risk of developing Wilms tumor (WT) than the…”
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Mulibrey nanism and immunological complications: a comprehensive case report and literature review by 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

“…Mulibrey nanism (MUL) is a rare disorder caused by gene variants characterized by growth failure, dysmorphic features, congestive heart failure (CHF), and an…”
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Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib by Gazzin, Andrea, Fornari, Federico, Cardaropoli, Simona, Carli, Diana, Tartaglia, Marco, Ferrero, Giovanni Battista, Mussa, Alessandro

“…The RASopathies are a group of syndromes caused by genetic variants that affect the RAS-MAPK signaling pathway, which is essential for cell response to diverse…”
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Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question by 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

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Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure by 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

“…In 2018, our center started a program to offer genetic diagnosis to patients with kidney and liver monogenic rare conditions, potentially eligible for organ…”
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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 by 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

“…Neurofibromatosis type I, a genetic disorder due to mutations in the gene, is characterized by a high mutation rate (about 50% of the cases are de novo) but,…”
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Esophageal duplication cyst in newborn by Garofalo, Salvatore, Schleef, Jürgen, Guanà, Riccardo, Suteu, Liana, Cortese, Maria Grazia, Carli, Diana, Ferrero, Giovanni Battista, Gennari, Fabrizio

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New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review by Trajkova, Slavica, Gregorio, Eleonora Di, Ferrero, Giovanni Battista, Carli, Diana, Pavinato, Lisa, Delplancq, Geoffroy, Kuentz, Paul, Brusco, Alfredo

“…Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal…”
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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 by Carli, Diana, MD, Garagnani, Lorenzo, MD, Lando, Mario, MD, Fairplay, Tracy, PT, Bernasconi, Sergio, MD, Landi, Antonio, MD, Percesepe, Antonio, MD

“…Objective To review the clinical characteristics in a series of 25 patients with VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with…”
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Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study by 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

“…Background Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is…”
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Genetic Basis of Congenital Upper Limb Anomalies: Analysis of 487 Cases of a Specialized Clinic by 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

“…BACKGROUND Specific data regarding the frequencies of the congenital upper limb anomalies (CULA) according to their etiology are hardly available due to the…”
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Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians by Defabianis, Patrizia, Mussa, Alessandro, Ninivaggi, Rossella, Carli, Diana, Romano, Federica

“…Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by various (epi)genetic alterations affecting the expression of genes on…”
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Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing by Carli, Diana, Bertola, Chiara, Cardaropoli, Simona, Ciuffreda, Valentina Pia, Pieretto, Marta, Ferrero, Giovanni Battista, Mussa, Alessandro

“…Most cases of Beckwith-Wiedemann spectrum (BWSp) are diagnosed after birth and few studies evaluated the prenatal phenotype; here, we investigate these aspects…”
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Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway by Carli, Diana, Resta, Nicoletta, Ferrero, Giovanni Battista, Ruggieri, Martino, Mussa, Alessandro

“…Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence at birth or early onset of congenital anomalies, cutaneous and vascular…”
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Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) by 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

“…PIK3CA pathogenic variants are responsible for a group of overgrowth syndromes, collectively known as PIK3CA-Related Overgrowth Spectrum (PROS). These…”
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The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth by 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

“…Heterozygous germline or somatic variants in AKT3 gene can cause isolated malformations of cortical development (MCDs) such as focal cortical dysplasia,…”
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Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth by 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

“…To provide information on evolution over time of leg length discrepancy in patients with syndromic and isolated lateralized overgrowth. This retrospective…”
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4413 MOLECULAR SPECTRUM OF GENETIC ANOMALIES IN PEDIATRIC PATIENTS WITH EARLY ONSET OF RENAL CYSTIC DISEASE by Bracciamà, Valeria, Bucchino, Laura, Carli, Diana, Solito, Arianna, Faini, Angelo Corso, Kalantari, Silvia, del Prever, Giulia Margherita Brach, Amoroso, Antonio, Vaisitti, Tiziana, Peruzzi, Licia, Deaglio, Silvia

“…Abstract Background and Aims Renal cystic disease (RCD) includes a spectrum of disorders with heterogenous clinical presentation. Among RCD are autosomal…”
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