Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene

por Calcaterra, Valeria, Lamberti, Rossella, Viggiano, Claudia, Gatto, Sara, Spaccini, Luigina, Lista, Gianluca, Zuccotti, Gianvincenzo
Publicado 2021

Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature

por Mameli, Chiara, Sangiorgio, Arianna, Colombo, Valeria, Gambino, Mirko, Spaccini, Luigina, Cattaneo, Elisa, Zuccotti, Gian Vincenzo
Publicado 2021

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

por Cococcioni, Lucia, Paccagnini, Susanna, Pozzi, Elena, Spaccini, Luigina, Cattaneo, Elisa, Redaelli, Serena, Crosti, Francesca, Zuccotti, Gian Vincenzo
Publicado 2018

Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants

por Previtali, Roberto, Leidi, Alessia, Basso, Martina, Izzo, Giana, Stignani, Cecilia, Spaccini, Luigina, Iascone, Maria, Veggiotti, Pierangelo, Bova, Stefania Maria
Publicado 2023

Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity

por Olivotto, Sara, Freddi, Anna, Lavatelli, Rossella, Basso, Eleonora, Leidi, Alessia, Castellotti, Barbara, Spaccini, Luigina, Bova, Stefania Maria, Veggiotti, Pierangelo
Publicado 2022

Novel Variant in Exon 3 of the BMP4 Gene Resulted in Ectopic Posterior Pituitary, Craniocervical Junction Dysmorphism and Limb Anomaly

por Calcaterra, Valeria, Lamberti, Rossella, Viggiano, Claudia, Baldassarre, Paola, Spaccini, Luigina, Alfano, Rosa Maria, Izzo, Giana, Valentini, Laura Grazia, Zuccotti, Gianvincenzo
Publicado 2022

Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review

por Nespoli, Luisa Federica, Albani, Elena, Corti, Carla, Spaccini, Luigina, Alfei, Enrico, Daniele, Irene, Zuccotti, Gian Vincenzo, Lista, Gianluca, Calcaterra, Valeria, Mannarino, Savina
Publicado 2021

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

por Colombo, Elisa Adele, Spaccini, Luigina, Volpi, Ludovica, Negri, Gloria, Cittaro, Davide, Lazarevic, Dejan, Zirpoli, Salvatore, Farolfi, Andrea, Gervasini, Cristina, Cubellis, Maria Vittoria, Larizza, Lidia
Publicado 2016

Refining the Phenotype of Recurrent Rearrangements of Chromosome 16

por Redaelli, Serena, Maitz, Silvia, Crosti, Francesca, Sala, Elena, Villa, Nicoletta, Spaccini, Luigina, Selicorni, Angelo, Rigoldi, Miriam, Conconi, Donatella, Dalprà, Leda, Roversi, Gaia, Bentivegna, Angela
Publicado 2019

Neonatal Diabetes in Patients Affected by Liang-Wang Syndrome Carrying KCNMA1 Variant p.(Gly375Arg) Suggest a Potential Role of Ca(2+) and Voltage-Activated K(+) Channel Activity i...

por Mameli, Chiara, Cazzola, Roberta, Spaccini, Luigina, Calcaterra, Valeria, Macedoni, Maddalena, La Verde, Paola Azzurra, D’Auria, Enza, Verduci, Elvira, Lista, Gianluca, Zuccotti, Gian Vincenzo
Publicado 2021

Menkes disease complicated by concurrent ACY1 deficiency: A case report

por Mauri, Alessia, Saielli, Laura Assunta, Alfei, Enrico, Iascone, Maria, Marchetti, Daniela, Cattaneo, Elisa, Di Lauro, Anna, Antonelli, Laura, Alberti, Luisella, Bonaventura, Eleonora, Veggiotti, Pierangelo, Spaccini, Luigina, Cereda, Cristina
Publicado 2023

Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child

por Faraguna, Martha Caterina, Musto, Francesca, Crescitelli, Viola, Iascone, Maria, Spaccini, Luigina, Tonduti, Davide, Fedeli, Tiziana, Kullmann, Gaia, Canonico, Francesco, Cattoni, Alessandro, Dell’Acqua, Fabiola, Rizzari, Carmelo, Gasperini, Serena
Publicado 2022

FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy

por Masnada, Silvia, Previtali, Roberto, Erba, Paola, Beretta, Elena, Camporesi, Anna, Chiapparini, Luisa, Doneda, Chiara, Iascone, Maria, Sartorio, Marco U. A., Spaccini, Luigina, Veggiotti, Pierangelo, Osio, Maurizio, Tonduti, Davide, Moroni, Isabella
Publicado 2023

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

por Cogliati, Francesca, Giorgini, Valentina, Masciadri, Maura, Bonati, Maria Teresa, Marchi, Margherita, Cracco, Irene, Gentilini, Davide, Peron, Angela, Savini, Miriam Nella, Spaccini, Luigina, Scelsa, Barbara, Maitz, Silvia, Veneselli, Edvige, Prato, Giulia, Pintaudi, Maria, Moroni, Isabella, Vignoli, Aglaia, Larizza, Lidia, Russo, Silvia
Publicado 2019

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

por Bonaventura, Eleonora, Alberti, Luisella, Lucchi, Simona, Cappelletti, Laura, Fazzone, Salvatore, Cattaneo, Elisa, Bellini, Matteo, Izzo, Giana, Parazzini, Cecilia, Bosetti, Alessandra, Di Profio, Elisabetta, Fiore, Giulia, Ferrario, Matilde, Mameli, Chiara, Sangiorgio, Arianna, Masnada, Silvia, Zuccotti, Gian Vincenzo, Veggiotti, Pierangelo, Spaccini, Luigina, Iascone, Maria, Verduci, Elvira, Cereda, Cristina, Tonduti, Davide
Publicado 2023

L1CAM variants cause two distinct imaging phenotypes on fetal MRI

por Accogli, Andrea, Goergen, Stacy, Izzo, Giana, Mankad, Kshitij, Krajden Haratz, Karina, Parazzini, Cecilia, Fahey, Michael, Menzies, Lara, Baptista, Julia, Carpineta, Lucia, Tortora, Domenico, Fulcheri, Ezio, Gaetano Vellone, Valerio, Paladini, Dario, Spaccini, Luigina, Toto, Valentina, Trayers, Claire, Ben Sira, Liat, Reches, Adi, Malinger, Gustavo, Salpietro, Vincenzo, De Marco, Patrizia, Srour, Myriam, Zara, Federico, Capra, Valeria, Rossi, Andrea, Severino, Mariasavina
Publicado 2021

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

por Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Tumiatti, Francesca, Masciadri, Maura, Smeland, Marie Falkenberg, Naik, Swati, Murch, Oliver, Bonati, Maria Teresa, Spano, Alice, Cattaneo, Elisa, Mariani, Milena, Gotta, Fabio, Crosti, Francesca, Cavalli, Pietro, Pantaleoni, Chiara, Natacci, Federica, Bedeschi, Maria Francesca, Milani, Donatella, Maitz, Silvia, Selicorni, Angelo, Spaccini, Luigina, Peron, Angela, Russo, Silvia, Larizza, Lidia, Low, Karen, Finelli, Palma
Publicado 2022

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

por Lardelli, Rea M., Schaffer, Ashleigh E., Eggens, Veerle R.C., Zaki, Maha S., Grainger, Stephanie L., Sathe, Shashank, Van Nostrand, Eric L., Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L., Markmiller, Sebastian, Marin-Valencia, Isaac, Davies, Justin H., de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Kibaek, Maria, Aldinger, Kimberley A., Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B., Chi, Neil, Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B., Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G.
Publicado 2017