Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome
Davis, Kyle W, Serrano, Moises, Loddo, Sara, Robinson, Catherine, Alesi, Viola, Dallapiccola, Bruno, Novelli, Antonio, Butler, Merlin G
Published in International journal of molecular sciences (22.03.2019)
Published in International journal of molecular sciences (22.03.2019)
Get full text
Journal Article
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes
Travaglini, Lorena, Aiello, Chiara, Stregapede, Fabrizia, D’Amico, Adele, Alesi, Viola, Ciolfi, Andrea, Bruselles, Alessandro, Catteruccia, Michela, Pizzi, Simone, Zanni, Ginevra, Loddo, Sara, Barresi, Sabina, Vasco, Gessica, Tartaglia, Marco, Bertini, Enrico, Nicita, Francesco
Published in Neurogenetics (01.05.2018)
Published in Neurogenetics (01.05.2018)
Get full text
Journal Article
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy
Orlando, Valeria, Di Tommaso, Silvia, Alesi, Viola, Loddo, Sara, Genovese, Silvia, Catino, Giorgia, Martucci, Licia, Roberti, Maria Cristina, Trivisano, Marina, Dentici, Maria Lisa, Specchio, Nicola, Dallapiccola, Bruno, Ferretti, Alessandro, Novelli, Antonio
Published in International journal of molecular sciences (01.11.2022)
Published in International journal of molecular sciences (01.11.2022)
Get full text
Journal Article
Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review
Minotti, Chiara, Graziani, Ludovico, Sallicandro, Ester, Digilio, Maria Cristina, Falasca, Roberto, Alesi, Viola, Novelli, Giuseppe, Dentici, Maria Lisa, Loddo, Sara, Novelli, Antonio
Published in Frontiers in genetics (06.02.2024)
Published in Frontiers in genetics (06.02.2024)
Get full text
Journal Article
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis
Alesi, Viola, Dentici, Maria Lisa, Genovese, Silvia, Loddo, Sara, Bellacchio, Emanuele, Orlando, Valeria, Di Tommaso, Silvia, Catino, Giorgia, Calacci, Chiara, Calvieri, Giusy, Pompili, Daniele, Ubertini, Graziamaria, Dallapiccola, Bruno, Capolino, Rossella, Novelli, Antonio
Published in International journal of molecular sciences (13.01.2021)
Published in International journal of molecular sciences (13.01.2021)
Get full text
Journal Article
Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients
Amati, Francesca, Vancheri, Chiara, Latini, Andrea, Colona, Vito Luigi, Grelli, Sandro, D'Apice, Maria Rosaria, Balestrieri, Emanuela, Passarelli, Chiara, Minutolo, Antonella, Loddo, Sara, Di Lorenzo, Andrea, Rogliani, Paola, Andreoni, Massimo, Novelli, Giuseppe
Published in Heliyon (01.10.2020)
Published in Heliyon (01.10.2020)
Get full text
Journal Article
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy
Farhan, Sali M.K., BSc, Robinson, John F, McIntyre, Adam D., BSc, Marrosu, Maria G., MD, Ticca, Anna F., MD, Loddo, Sara, BSc, Carboni, Nicola, MD, PhD, Brancati, Francesco, MD, PhD, Hegele, Robert A., MD, FRCPC
Published in Canadian journal of cardiology (01.12.2014)
Published in Canadian journal of cardiology (01.12.2014)
Get full text
Journal Article
Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements
Alesi, Viola, Genovese, Silvia, Lepri, Francesca Romana, Catino, Giorgia, Loddo, Sara, Orlando, Valeria, Di Tommaso, Silvia, Morgia, Alessandra, Martucci, Licia, Di Donato, Maddalena, Digilio, Maria Cristina, Dallapiccola, Bruno, Novelli, Antonio, Capolino, Rossella
Published in Biomolecules (Basel, Switzerland) (23.04.2023)
Published in Biomolecules (Basel, Switzerland) (23.04.2023)
Get full text
Journal Article
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1
Travaglini, Lorena, Aiello, Chiara, Alesi, Viola, Loddo, Sara, Novelli, Antonio, Tozzi, Giulia, Bertini, Enrico, Leuzzi, Vincenzo, Brancati, Francesco
Published in Brain & development (Tokyo. 1979) (01.02.2017)
Published in Brain & development (Tokyo. 1979) (01.02.2017)
Get full text
Journal Article
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients
Baban, Anwar, Alesi, Viola, Magliozzi, Monia, Parlapiano, Giovanni, Genovese, Silvia, Cicenia, Marianna, Loddo, Sara, Lodato, Valentina, Di Chiara, Luca, Fattori, Fabiana, D’Amico, Adele, Francalanci, Paola, Amodeo, Antonio, Novelli, Antonio, Drago, Fabrizio
Published in Journal of cardiovascular development and disease (30.09.2022)
Published in Journal of cardiovascular development and disease (30.09.2022)
Get full text
Journal Article
Reassessment of the 12q15 deletion syndrome critical region
Viola, Alesi, Sara, Loddo, Marta, Grispo, Simona, Riccio, Costantino, Montella Andrea, Bruno, Dallapiccola, Lucia, Ulgheri, Antonio, Novelli
Published in European journal of medical genetics (01.04.2017)
Published in European journal of medical genetics (01.04.2017)
Get full text
Journal Article
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review
Arghir, Aurora, Papuc, Sorina Mihaela, Tutulan‐Cunita, Andreea‐Cristina, Erbescu, Alina, Loddo, Sara, Genovese, Silvia, Ciocca, Laura, Goldoni, Marina, Piscopo, Carmelo, Bernardini, Laura, Novelli, Antonio, Budisteanu, Magdalena
Published in Clinical case reports (01.01.2021)
Published in Clinical case reports (01.01.2021)
Get full text
Journal Article
Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects
Rojnueangnit, Kitiwan, Charalsawadi, Chariyawan, Thammachote, Weerin, Pradabmuksiri, Ariya, Tim‐Aroon, Thipwimol, Novelli, Antonio, Loddo, Sara, Briuglia, Silvana, Concetta, Cutrupi M., Wattanasirichaigoon, Duangrurdee, Jinawath, Natini
Published in Molecular genetics & genomic medicine (01.09.2019)
Published in Molecular genetics & genomic medicine (01.09.2019)
Get full text
Journal Article
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients
Briguglio, Marilena, Pinelli, Lorenzo, Giordano, Lucio, Ferraris, Alessandro, Germanò, Eva, Micheletti, Serena, Severino, Mariasavina, Bernardini, Laura, Loddo, Sara, Tortorella, Gaetano, Ormitti, Francesca, Gasparotti, Roberto, Rossi, Andrea, Valente, Enza Maria
Published in Orphanet journal of rare diseases (08.06.2011)
Published in Orphanet journal of rare diseases (08.06.2011)
Get full text
Journal Article
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features
Battaglia, Agatino, Doccini, Viola, Bernardini, Laura, Novelli, Antonio, Loddo, Sara, Capalbo, Anna, Filippi, Tiziana, Carey, John C
Published in European journal of paediatric neurology (01.11.2013)
Published in European journal of paediatric neurology (01.11.2013)
Get full text
Journal Article
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions
Bensaid, Souad, Bendahmane, Malika, Loddo, Sara, Poke, Gemma, Januel, Louis, Nicolle, Romain, Malan, Valérie, Chatron, Nicolas, Ottombrino, Silvia, Dentici, Maria Lisa, Novelli, Antonio, Digilio, Maria Cristina, Sanlaville, Damien
Published in American journal of medical genetics. Part A (01.07.2024)
Published in American journal of medical genetics. Part A (01.07.2024)
Get full text
Journal Article
Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders
Bauleo, Alessia, Montesanto, Alberto, Pace, Vincenza, Brando, Rossella, De Stefano, Laura, Puntorieri, Domenica, Cento, Luca, Loddo, Sara, Calacci, Chiara, Novelli, Antonio, Falcone, Elena
Published in Psychiatric genetics (01.12.2021)
Published in Psychiatric genetics (01.12.2021)
Get more information
Journal Article
PPP1R21‐related syndromic intellectual disability: Report of an adult patient and review
Loddo, Sara, Alesi, Viola, Radio, Francesca Clementina, Genovese, Silvia, Di Tommaso, Silvia, Calvieri, Giusy, Orlando, Valeria, Bertini, Enrico, Dentici, Maria Lisa, Novelli, Antonio, Dallapiccola, Bruno
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
Get full text
Journal Article
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome
Alesi, Viola, Dentici, Maria Lisa, Loddo, Sara, Genovese, Silvia, Orlando, Valeria, Calacci, Chiara, Pompili, Daniele, Dallapiccola, Bruno, Digilio, Maria Cristina, Novelli, Antonio
Published in Annals of human genetics (01.03.2019)
Published in Annals of human genetics (01.03.2019)
Get full text
Journal Article