Sfoglia per Autore
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome
2024-01-01 Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Sanchez Russo, Rossana; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux-Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjørg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D; Corona, Rosario I; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordon, Christopher T
Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies
2023-01-01 Paola Quarello,Diana Carli, Davide Biasoni, Simona Gerocarni Nappo, Carlo Morosi, Roberta Cotti, Emanuela Garelli, Giulia Zucchetti, Manuela Spadea, Elisa Tirtei, Filippo Spreafico, Franca Fagioli
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families
2023-01-01 Wojcik, Monica H; Srivastava, Siddharth; Agrawal, Pankaj B; Balci, Tugce B; Callewaert, Bert; Calvo, Pier Luigi; Carli, Diana; Caudle, Michelle; Colaiacovo, Samantha; Cross, Laura; Demetriou, Kalliope; Drazba, Katy; Dutra-Clarke, Marina; Edwards, Matthew; Genetti, Casie A; Grange, Dorothy K; Hickey, Scott E; Isidor, Bertrand; Küry, Sébastien; Lachman, Herbert M; Lavillaureix, Alinoe; Lyons, Michael J; Marcelis, Carlo; Marco, Elysa J; Martinez-Agosto, Julian A; Nowak, Catherine; Pizzol, Antonio; Planes, Marc; Prijoles, Eloise J; Riberi, Evelise; Rush, Eric T; Russell, Bianca E; Sachdev, Rani; Schmalz, Betsy; Shears, Deborah; Stevenson, David A; Wilson, Kate; Jansen, Sandra; de Vries, Bert B A; Curry, Cynthia J
Cerebral Metastases from Adrenocortical Carcinoma in Children: a Case Report and Literature Review
2023-01-01 Pilloni, Giulia; Peretta, Paola; Carli, Diana; Campello, Anna; Bertero, Luca; Maletta, Francesca; Vallero, Stefano Gabriele; Ragazzi, Paola
Mulibrey nanism and immunological complications: a comprehensive case report and literature review
2023-01-01 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
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene
2023-01-01 Karimi, Karim; Mol, Merel O; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Brooks, Alice; Zonneveld-Huijssoon, Evelien; Gerkes, Erica H; Tedder, Matthew L; Vissers, Lisenka; Salzano, Emanuela; Piccione, Maria; Asaftei, Sebastian Dorin; Carli, Diana; Mussa, Alessandro; Shukarova-Angelovska, Elena; Trajkova, Slavica; Brusco, Alfredo; Merla, Giuseppe; Alders, Marielle M; Bouman, Arjan; Sadikovic, Bekim
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth
2023-01-01 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
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
2023-01-01 Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
2023-01-01 Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
2023-01-01 Luca, Maria; Carli, Diana; Cardaropoli, Simona; Milani, Donatella; Cocchi, Guido; Leoni, Chiara; Macchiaiolo, Marina; Bartuli, Andrea; Tarani, Luigi; Melis, Daniela; Bontempo, Piera; D’Elia, Gemma; Prada, Elisabetta; Vitale, Raffaele; Grammegna, Angelina; Tannorella, Pierpaola; Sparago, Angela; Pignata, Laura; Riccio, Andrea; Russo, Silvia; Ferrero, Giovanni Battista; Mussa, Alessandro
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
2023-01-01 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
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome
2023-01-01 Coccia, Emanuele; Valeri, Lara; Zuntini, Roberta; Caraffi, Stefano Giuseppe; Peluso, Francesca; Pagliai, Luca; Vezzani, Antonietta; Pietrangiolillo, Zaira; Leo, Francesco; Melli, Nives; Fiorini, Valentina; Greco, Andrea; Lepri, Francesca Romana; Pisaneschi, Elisa; Marozza, Annabella; Carli, Diana; Mussa, Alessandro; Radio, Francesca Clementina; Conti, Beatrice; Iascone, Maria; Gargano, Giancarlo; Novelli, Antonio; Tartaglia, Marco; Zuffardi, Orsetta; Bedeschi, Maria Francesca; Garavelli, Livia
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure
2023-01-01 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
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I
2022-01-01 Riva, Matteo; Martorana, Davide; Uliana, Vera; Caleffi, Edoardo; Boschi, Elena; Garavelli, Livia; Ponti, Giovanni; Sangiorgi, Luca; Graziano, Claudio; Bigoni, Stefania; Rocchetti, Luca Maria; Madeo, Simona; Soli, Fiorenza; Grosso, Enrico; Carli, Diana; Goldoni, Matteo; Pisani, Francesco; Percesepe, Antonio
Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians
2022-01-01 Defabianis, Patrizia; Mussa, Alessandro; Ninivaggi, Rossella; Carli, Diana; Romano, Federica
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
2022-01-01 Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A.
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease
2022-01-01 Mussa A.; Carli D.; Giorgio E.; Villar A.M.; Cardaropoli S.; Carbonara C.; Campagnoli M.F.; Galletto P.; Palumbo M.; Olivieri S.; Isella C.; Andelfinger G.; Tartaglia M.; Botta G.; Brusco A.; Medico E.; Ferrero G.B.
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome
2022-01-01 Carli, Diana; Cardaropoli, Simona; Tessaris, Daniele; Coppo, Paola; La Selva, Roberta; Cesario, Claudia; Lepri, Francesca Romana; Pullano, Verdiana; Palumbo, Martina; Ramenghi, Ugo; Brusco, Alfredo; Medico, Enzo; De Sanctis, Luisa; Ferrero, Giovanni Battista; Mussa, Alessandro
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
2022-01-01 Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro
Epilepsy in a cohort of children with Noonan syndrome and related disorders
2022-01-01 Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome | 2024 | Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Sanchez Russo, Rossana; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux-Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjørg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D; Corona, Rosario I; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordon, Christopher T | |
| Implications of an Underlying Beckwith–Wiedemann Syndrome for Wilms Tumor Treatment Strategies | 2023 | Paola Quarello,Diana Carli, Davide Biasoni, Simona Gerocarni Nappo, Carlo Morosi, Roberta Cotti, Emanuela Garelli, Giulia Zucchetti, Manuela Spadea, Elisa Tirtei, Filippo Spreafico, Franca Fagioli | |
| Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families | 2023 | Wojcik, Monica H; Srivastava, Siddharth; Agrawal, Pankaj B; Balci, Tugce B; Callewaert, Bert; Calvo, Pier Luigi; Carli, Diana; Caudle, Michelle; Colaiacovo, Samantha; Cross, Laura; Demetriou, Kalliope; Drazba, Katy; Dutra-Clarke, Marina; Edwards, Matthew; Genetti, Casie A; Grange, Dorothy K; Hickey, Scott E; Isidor, Bertrand; Küry, Sébastien; Lachman, Herbert M; Lavillaureix, Alinoe; Lyons, Michael J; Marcelis, Carlo; Marco, Elysa J; Martinez-Agosto, Julian A; Nowak, Catherine; Pizzol, Antonio; Planes, Marc; Prijoles, Eloise J; Riberi, Evelise; Rush, Eric T; Russell, Bianca E; Sachdev, Rani; Schmalz, Betsy; Shears, Deborah; Stevenson, David A; Wilson, Kate; Jansen, Sandra; de Vries, Bert B A; Curry, Cynthia J | |
| Cerebral Metastases from Adrenocortical Carcinoma in Children: a Case Report and Literature Review | 2023 | Pilloni, Giulia; Peretta, Paola; Carli, Diana; Campello, Anna; Bertero, Luca; Maletta, Francesca; Vallero, Stefano Gabriele; Ragazzi, Paola | |
| Mulibrey nanism and immunological complications: a comprehensive case report and literature review | 2023 | 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 | |
| Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene | 2023 | Karimi, Karim; Mol, Merel O; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Brooks, Alice; Zonneveld-Huijssoon, Evelien; Gerkes, Erica H; Tedder, Matthew L; Vissers, Lisenka; Salzano, Emanuela; Piccione, Maria; Asaftei, Sebastian Dorin; Carli, Diana; Mussa, Alessandro; Shukarova-Angelovska, Elena; Trajkova, Slavica; Brusco, Alfredo; Merla, Giuseppe; Alders, Marielle M; Bouman, Arjan; Sadikovic, Bekim | |
| The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth | 2023 | 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 | |
| Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes | 2023 | Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo | |
| CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD | 2023 | Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo | |
| Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development | 2023 | Luca, Maria; Carli, Diana; Cardaropoli, Simona; Milani, Donatella; Cocchi, Guido; Leoni, Chiara; Macchiaiolo, Marina; Bartuli, Andrea; Tarani, Luigi; Melis, Daniela; Bontempo, Piera; D’Elia, Gemma; Prada, Elisabetta; Vitale, Raffaele; Grammegna, Angelina; Tannorella, Pierpaola; Sparago, Angela; Pignata, Laura; Riccio, Andrea; Russo, Silvia; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) | 2023 | 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 | |
| Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome | 2023 | Coccia, Emanuele; Valeri, Lara; Zuntini, Roberta; Caraffi, Stefano Giuseppe; Peluso, Francesca; Pagliai, Luca; Vezzani, Antonietta; Pietrangiolillo, Zaira; Leo, Francesco; Melli, Nives; Fiorini, Valentina; Greco, Andrea; Lepri, Francesca Romana; Pisaneschi, Elisa; Marozza, Annabella; Carli, Diana; Mussa, Alessandro; Radio, Francesca Clementina; Conti, Beatrice; Iascone, Maria; Gargano, Giancarlo; Novelli, Antonio; Tartaglia, Marco; Zuffardi, Orsetta; Bedeschi, Maria Francesca; Garavelli, Livia | |
| Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure | 2023 | 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 | |
| Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I | 2022 | Riva, Matteo; Martorana, Davide; Uliana, Vera; Caleffi, Edoardo; Boschi, Elena; Garavelli, Livia; Ponti, Giovanni; Sangiorgi, Luca; Graziano, Claudio; Bigoni, Stefania; Rocchetti, Luca Maria; Madeo, Simona; Soli, Fiorenza; Grosso, Enrico; Carli, Diana; Goldoni, Matteo; Pisani, Francesco; Percesepe, Antonio | |
| Maxillo-Facial Morphology in Beckwith-Wiedemann Syndrome: A Preliminary Study on (epi)Genotype-Phenotype Association in Caucasians | 2022 | Defabianis, Patrizia; Mussa, Alessandro; Ninivaggi, Rossella; Carli, Diana; Romano, Federica | |
| Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis | 2022 | Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A. | |
| Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease | 2022 | Mussa A.; Carli D.; Giorgio E.; Villar A.M.; Cardaropoli S.; Carbonara C.; Campagnoli M.F.; Galletto P.; Palumbo M.; Olivieri S.; Isella C.; Andelfinger G.; Tartaglia M.; Botta G.; Brusco A.; Medico E.; Ferrero G.B. | |
| Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome | 2022 | Carli, Diana; Cardaropoli, Simona; Tessaris, Daniele; Coppo, Paola; La Selva, Roberta; Cesario, Claudia; Lepri, Francesca Romana; Pullano, Verdiana; Palumbo, Martina; Ramenghi, Ugo; Brusco, Alfredo; Medico, Enzo; De Sanctis, Luisa; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques | 2022 | Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Epilepsy in a cohort of children with Noonan syndrome and related disorders | 2022 | Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista |
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