Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

Authors: Mastromoro, Gioia, Santoro, Claudia, Motta, Marialetizia, Sorrentino, Ugo, Daniele, Paola, Peduto, Cristina, Petrizzelli, Francesco, Tripodi, Martina, Pinna, Valentina, Zanobio, Mariateresa, Rotundo, Giovannina, Bellacchio, Emanuele, Lepri, Francesca, Farina, Antonella, D’Asdia, Maria Cecilia, Piceci-Sparascio, Francesca, Biagini, Tommaso, Petracca, Antonio, Castori, Marco, Melis, Daniela, Accadia, Maria, Traficante, Giovanna, Tarani, Luigi, Fontana, Paolo, Sirchia, Fabio, Paparella, Roberto, Currò, Aurora, Benedicenti, Francesco, Scala, Iris, Dentici, Maria Lisa, Leoni, Chiara, Trevisan, Valentina, Cecconi, Antonella, Giustini, Sandra, Pizzuti, Antonio, Salviati, Leonardo, Novelli, Antonio, Zampino, Giuseppe, Zenker, Martin, Genuardi, Maurizio, Digilio, Maria Cristina, Papi, Laura, Perrotta, Silverio, Nigro, Vincenzo, Castellanos, Elisabeth, Mazza, Tommaso, Trevisson, Eva, Tartaglia, Marco, Piluso, Giulio, De Luca, Alessandro

Source: In Genetics in Medicine November 2024 26(11)

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

Authors: Scott, Alexandra, Di Giosaffatte, Niccolò, Pinna, Valentina, Daniele, Paola, Corno, Sara, D’Ambrosio, Valentina, Andreucci, Elena, Marozza, Annabella, Sirchia, Fabio, Tortora, Giada, Mangiameli, Daniela, Di Marco, Chiara, Romagnoli, Maria, Donati, Ilaria, Zonta, Andrea, Grosso, Enrico, Naretto, Valeria Giorgia, Mastromoro, Gioia, Versacci, Paolo, Pantaleoni, Francesca, Radio, Francesca Clementina, Mazza, Tommaso, Damante, Giuseppe, Papi, Laura, Mattina, Teresa, Giancotti, Antonella, Pizzuti, Antonio, Laberge, Anne-Marie, Tartaglia, Marco, Delrue, Marie-Ange, De Luca, Alessandro

Source: In Genetics in Medicine June 2021 23(6):1116-1124

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings

Authors: D'Amico, Alessandra, Rosano, Carmen, Pannone, Luca, Pinna, Valentina, Assunto, Antonia, Motta, Marialetizia, Ugga, Lorenzo, Daniele, Paola, Mandile, Roberta, Mariniello, Lucio, Siano, Maria Anna, Santoro, Claudia, Piluso, Giulio, Martinelli, Simone, Strisciuglio, Pietro, De Luca, Alessandro, Tartaglia, Marco, Melis, Daniela

Source: Clinical genetics. 100(5):563-572

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131839502.0x000001&indx=1&recIds=ETOCvdc_100131839502.0x000001

Noninvasive hemoglobin monitoring in clinical trials: a systematic review and meta-analysis

Authors: Zortéa, Tailyne, Wizbicki, Daniele Paola da Silva, Madeira, Kristian, Ambrosio, Pedro Gabriel, Souza, Rafaela Okchstein Borges de, Durães, Edson Souza Machado

Source: Revista Brasileira de Anestesiologia. August 2020 70(4)

Subject Terms: Spectrophotometry, Oximetry, Blood chemical analysis, Blood gas monitoring transcutaneous, Clinical trial, Systematic review, Meta-analysis

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-70942020000400388

Monitorização não invasiva da hemoglobina em ensaios clínicos: uma revisão sistemática e metanálise

Alternate Title: Noninvasive hemoglobin monitoring in clinical trials: a systematic review and meta‐analysis (English)

Authors: Zortéa, Tailyne, Wizbicki, Daniele Paola da Silva, Madeira, Kristian, Ambrosio, Pedro Gabriel, Souza, Rafaela Okchstein Borges de, Durães, Edson Souza Machado

Source: In Brazilian Journal of Anesthesiology July-August 2020 70(4):388-397

Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats

Authors: Zalfa, Cristina, Rota Nodari, Laura, Vacchi, Elena, Gelati, Maurizio, Profico, Daniela, Boido, Marina, Binda, Elena, De Filippis, Lidia, Copetti, Massimiliano, Garlatti, Valentina, Daniele, Paola, Rosati, Jessica, De Luca, Alessandro, Pinos, Francesca, Cajola, Laura, Visioli, Alberto, Mazzini, Letizia, Vercelli, Alessandro, Svelto, Maria, Vescovi, Angelo, Ferrari, Daniela

Source: Cell death and disease. 10(5):1-15

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100133351048.0x000001&indx=1&recIds=ETOCvdc_100133351048.0x000001

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Authors: Assunto, Antonia, Ferrara, Ursula, Luca, Alessandro, Pivonello, Claudia, Lombardo, Lisa, Piscitelli, Annapina, Tortora, Cristina, Pinna, Valentina, Daniele, Paola, Pivonello, Rosario, Russo, Maria, Limongelli, Giuseppe, Colao, Annamaria, Tartaglia, Marco, Strisciuglio, Pietro, Melis, Daniela

Source: Orphanet journal of rare diseases. 14(1):1-9

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190695686.0x000001&indx=1&recIds=ETOCvdc_100190695686.0x000001

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

Authors: Gazzin, Andrea, Fornari, Federico, Niceta, Marcello, Leoni, Chiara, Dentici, Maria Lisa, Carli, Diana, Villar, Anna Maria, Calcagni, Giulio, Banaudi, Elena, Massuras, Stefania, Cardaropoli, Simona, Airulo, Elena, Daniele, Paola, Monda, Emanuele, Limongelli, Giuseppe, Riggi, Chiara, Zampino, Giuseppe, Digilio, Maria Cristina, De Luca, Alessandro, Tartaglia, Marco, Ferrero, Giovanni Battista, Mussa, Alessandro

Source: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-8, 8p

Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes.

Authors: Gensini, Francesca, Sestini, Roberta, De Luca, Alessandro, Pinna, Valentina, Daniele, Paola, Orzalesi, Lorenzo, Petrella, Maria Cristina, Porfirio, Berardino, Papi, Laura

Source: Familial Cancer; Jul2021, Vol. 20 Issue 3, p195-199, 5p

Subject Terms: BREAST tumors, BRCA genes, GERM cells, PHYLLODES tumors, BREAST cancer, GENE silencing

The clinical significance of A2ML1variants in Noonan syndrome has to be reconsidered

Authors: Brinkmann, Julia, Lissewski, Christina, Pinna, Valentina, Vial, Yoann, Pantaleoni, Francesca, Lepri, Francesca, Daniele, Paola, Burnyte, Birute, Cuturilo, Goran, Fauth, Christine, Gezdirici, Alper, Kotzot, Dieter, Güleç, Elif Yılmaz, Iotova, Violeta, Schanze, Denny, Ramond, Francis, Havlovicová, Markéta, Utine, Gulen Eda, Simsek-Kiper, Pelin Ozlem, Stoyanova, Milena, Verloes, Alain, De Luca, Alessandro, Tartaglia, Marco, Cavé, Hélène, Zenker, Martin

Source: European Journal of Human Genetics: EJHG; March 2021, Vol. 29 Issue: 3 p524-527, 4p

Variants of SOS2are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

Authors: Lissewski, Christina, Chune, Valérie, Pantaleoni, Francesca, De Luca, Alessandro, Capri, Yline, Brinkmann, Julia, Lepri, Francesca, Daniele, Paola, Leenders, Erika, Mazzanti, Laura, Scarano, Emanuela, Radio, Francesca Clementina, Kutsche, Kerstin, Kuechler, Alma, Gérard, Marion, Ranguin, Kara, Legendre, Marine, Vial, Yoann, van der Burgt, Ineke, Rinne, Tuula, Andreucci, Elena, Mastromoro, Gioia, Digilio, Maria Cristina, Cave, Hélène, Tartaglia, Marco, Zenker, Martin

Source: European Journal of Human Genetics: EJHG; January 2021, Vol. 29 Issue: 1 p51-60, 10p

Heterozygosity for loss-of-function variants in LZTR1is associated with isolated multiple café-au-laitmacules

Authors: Mastromoro, Gioia, Santoro, Claudia, Motta, Marialetizia, Sorrentino, Ugo, Daniele, Paola, Peduto, Cristina, Petrizzelli, Francesco, Tripodi, Martina, Pinna, Valentina, Zanobio, Mariateresa, Rotundo, Giovannina, Bellacchio, Emanuele, Lepri, Francesca, Farina, Antonella, D’Asdia, Maria Cecilia, Piceci-Sparascio, Francesca, Biagini, Tommaso, Petracca, Antonio, Castori, Marco, Melis, Daniela, Accadia, Maria, Traficante, Giovanna, Tarani, Luigi, Fontana, Paolo, Sirchia, Fabio, Paparella, Roberto, Currò, Aurora, Benedicenti, Francesco, Scala, Iris, Dentici, Maria Lisa, Leoni, Chiara, Trevisan, Valentina, Cecconi, Antonella, Giustini, Sandra, Pizzuti, Antonio, Salviati, Leonardo, Novelli, Antonio, Zampino, Giuseppe, Zenker, Martin, Genuardi, Maurizio, Digilio, Maria Cristina, Papi, Laura, Perrotta, Silverio, Nigro, Vincenzo, Castellanos, Elisabeth, Mazza, Tommaso, Trevisson, Eva, Tartaglia, Marco, Piluso, Giulio, De Luca, Alessandro

Source: Genetics in Medicine; 20240101, Issue: Preprints

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects

Authors: Salazar, Marleny, Consoli, Federica, Villegas, Victoria, Caicedo, Victor, Maddaloni, Valeria, Daniele, Paola, Caianiello, Giuseppe, Pachón, Sonia, Nuñez, Federico, Limongelli, Giuseppe, Pacileo, Giuseppe, Marino, Bruno, Bernal, Jaime E., De Luca, Alessandro, Dallapiccola, Bruno

Source: In European Journal of Medical Genetics May-June 2011 54(3):306-309

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Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Authors: Pinna, Valentina¹ (AUTHOR), Daniele, Paola¹ (AUTHOR), Calcagni, Giulio² (AUTHOR), Mariniello, Lucio³ (AUTHOR), Criscione, Roberta^1,4 (AUTHOR), Giardina, Chiara^1,4 (AUTHOR), Lepri, Francesca Romana⁵ (AUTHOR), Hozhabri, Hossein¹ (AUTHOR), Alberico, Angela¹ (AUTHOR), Cavone, Stefania¹ (AUTHOR), Morella, Annunziata Tina¹ (AUTHOR), Mandile, Roberta³ (AUTHOR), Annunziata, Francesca¹ (AUTHOR), Di Giosaffatte, Niccolò¹ (AUTHOR), D'Asdia, Maria Cecilia¹ (AUTHOR), Versacci, Paolo⁴ (AUTHOR), Capolino, Rossella⁵ (AUTHOR), Strisciuglio, Pietro³ (AUTHOR), Giustini, Sandra⁶ (AUTHOR), Melis, Daniela³ (AUTHOR)

Source: Genes. Sep2019, Vol. 10 Issue 9, p675-675. 1p.

Subject Terms: *CONGENITAL heart disease, *PULMONARY valve, *NEUROFIBROMATOSIS 1, *MOLECULAR spectra, *MITRAL valve, *NOONAN syndrome