A familial case of NOG-related symphalangism spectrum disorder due to a novel NOG variant

Autor: Giulia Parmeggiani, Francesca Gualandi, Marco Limarzi, Alessandra Ferlini, Davide Brotto, Alessandro Martini, Alberto Sensi

Publikováno v: Clinical Dysmorphology. 31:185-190

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::566b21a1822cc1b05949b3844b382791
https://doi.org/10.1097/mcd.0000000000000427

Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X)

Autor: Michela Cappella, Vanna Graziani, Antonella Pragliola, Alberto Sensi, Khalid Hussain, Claudia Muratori, Federico Marchetti

Publikováno v: Case Reports in Pediatrics, Vol 2015 (2015)

Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism o

Externí odkaz: https://doaj.org/article/aa9e384f2df645f8bd9394e0aa9293bf

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders

Autor: Claudio Graziano, Patrizia Mongelli, Laura Mazzanti, Antonio Percesepe, Federica Tamburrino, Paola Visconti, Annamaria Perri, Alberto Sensi, Emanuela Scarano, Ilaria Donati, Antonia Parmeggiani, Pamela Magini, Marco Seri

In clinical genetics, the need to discriminate between benign and pathogenic variants identified in patients with neurodevelopmental disorders is an absolute necessity. Copy number variants (CNVs) of small size can enable the identification of genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80e9c4e4c3abcbd81e7c1ce55b500d5c
http://hdl.handle.net/11585/687495

Age and sex prevalence estimate of Joubert syndrome in Italy

Autor: Nuovo, Sara, Bacigalupo, Ilaria, Ginevrino, Monia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Casella, Antonella, Micalizzi, Alessia, Nardella, Marta, Romaniello, Romina, Serpieri, Valentina, Zanni, Ginevra, Valente, Enza Maria, Vanacore, Nicola, JS Italian Study Group, Patrizia, Accorsi, Enrico, Alfei, Elena, Andreucci, Gianluigi, Ardissino, Emanuela, Avola, Rita, Barone, Francesco, Benedicenti, Stefania, Bigoni, Loredana, Boccone, Bonati, Maria T., Stefania, Bova, Marilena, Briguglio, Silvana, Briuglia, Olga, Calabrese, Cantalupo, Gaetano, Gianluca, Caridi, Monica, Cazzagon, Celle, Maria E., Cilio, Maria R., Giangennaro, Coppola, Adele, D’Amico, Stefano, D’Arrigo, Daniele De Brasi, Maria Fulvia de Leva, Ennio Del Giudice, Marilena Carmela Di Giacomo, Maria Lucia Di Sabato, Bruno, Dallapiccola, Raffaella, Devescovi, Maria Cristina Digilio, Ilaria, Donati, Donati, Maria A., Dotti, Maria T., Francesco, Emma, Antonella, Fabretto, Elisa, Fazzi, Alessandra, Ferlini, Alessandro, Ferraris, Giovanni Battista Ferrero, Anna, Ficcadenti, Simona, Fiori, Rita, Fischetto, Elena, Freri, Livia, Garavelli, Mattia, Gentile, Lucio, Giordano, Donatella, Greco, Claudia, Izzi, Vincenzo, Leuzzi, Elisabetta, Lucarelli, Silvia, Majore, Mancardi, Maria M., Francesca, Mari, Giuseppina, Marra, Laura, Mazzanti, Daniela, Melis, Emanuele, Micaglio, Marisol, Mirabelli-Badenier, Isabella, Moroni, Nardo, Nardocci, Margherita, Nosadini, Simona, Orcesi, Giovanni, Pagani, Chiara, Pantaleoni, Francesco Papadia Papadia, Pasquale, Parisi, Maria Grazia Patricelli, Cinzia, Peruzzi, Alice, Pessagno, Maria, Piccione, Antonella, Pini, Tiziana, Pisano, Livia, Pisciotta, Marzia, Pollazzon, Francesca, Rivieri, Alfonso, Romano, Corrado, Romano, Leonardo, Salviati, Carmelo Damiano Salpietro, Margherita, Santucci, Emanuela, Scarano, Barbara, Scelsa, Alberto, Sensi, Marco, Seri, Sabrina, Signorini, Margherita, Silengo, Simonati, Alessandro, Fabio, Sirchia, Luigina, Spaccini, Franco, Stanzial, Gilda, Stringini, Eva, Trevisson, Antonella, Trivelli, Vera, Uliana, Graziella, Uziel, Gessica, Vasco, Marina, Vascotto, Giuseppina, Vitiello, Federica, Zibordi

Publikováno v: Neurology, Vol. 94, no.8, p. e797-e801 (2020)

ObjectiveTo estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.MethodsWe enrolled all patients with a neuroradiologicall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e514766fd23b3d9e1add49a06f0da0f5
http://hdl.handle.net/11577/3356044

Genomic studies in a large cohort of hearing impaired italian patients revealed several new alleles, a rare case of uniparental disomy (Upd) and the importance to search for copy number variations

Autor: Marco Seri, Vanna Pecile, Flavio Faletra, Alberto Sensi, Anna Morgan, Poornima Gajendrarao, Fabio Sirchia, Sara Ghiselli, Stefania Lenarduzzi, Martina La Bianca, Stefania Cappellani, Enrico Grosso, Claudio Graziano, Marco Brumat, Eva Orzan, Marcello Morgutti, Umberto Ambrosetti, Giorgia Girotto, Paolo Gasparini

Publikováno v: Frontiers in Genetics, Vol 9 (2018)
Frontiers in Genetics

Hereditary hearing loss (HHL) is a common disorder characterized by a huge genetic heterogeneity. The definition of a correct molecular diagnosis is essential for proper genetic counseling, recurrence risk estimation, and therapeutic options. From 20

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbe07fd77c60b2a2e2d6f82ad603a8c7
http://hdl.handle.net/2318/1742198