LARIZZA, LIDIA
LARIZZA, LIDIA
Dipartimento di Scienze della Salute
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome
2024 I. Bestetti, M. Crippa, A. Sironi, M. Bellini, F. Tumiatti, S. Ballabio, F. Ceriotti, L. Memo, M. Iascone, L. Larizza, P. Finelli
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants
2022 S. Perego, V. Alari, G. Pietra, A. Lamperti, A. Vimercati, N. Camporeale, M. Garzo, F. Cogliati, D. Milani, A. Vignoli, A. Peron, L. Larizza, T. Pizzorusso, S. Russo
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
2022 A. Sironi, I. Bestetti, M. Masciadri, F. Tumiatti, M. Crippa, C. Pantaleoni, S. Russo, S. D'Arrigo, D. Milani, L. Larizza, P. Finelli
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency
2021 I. Bestetti, C. Barbieri, A. Sironi, V. Specchia, S.A. Yatsenko, M.D. De Donno, C. Caslini, D. Gentilini, M. Crippa, L. Larizza, A. Marozzi, A. Rajkovic, D. Toniolo, M.P. Bozzetti, P. Finelli
Histone deacetylase inhibitors ameliorate morphological defects and hypoexcitability of iPSC-neurons from Rubinstein-Taybi patients
2021 V. Alari, P. Scalmani, P.F. Ajmone, S. Perego, S. Avignone, I. Catusi, P.A. Lonati, M.O. Borghi, P. Finelli, B. Terragni, M. Mantegazza, S. Russo, L. Larizza
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes
2020 A. Peron, I. Catusi, M.P. Recalcati, L. Calzari, L. Larizza, A. Vignoli, M.P. Canevini
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
2020 M. Crippa, I. Bestetti, S. Maitz, K. Weiss, A. Spano, M. Masciadri, S. Smithson, L. Larizza, K. Low, L. Cohen, P. Finelli
A familial t(4;8) translocation segregates with epilepsy and migraine with aura
2020 M. Crippa, P. Malatesta, M.T. Bonati, F. Trapasso, F. Fortunato, G. Annesi, L. Larizza, A. Labate, P. Finelli, N. Perrotti, A. Gambardella
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes
2019 M. Crippa, M.T. Bonati, L. Calzari, C. Picinelli, C. Gervasini, A. Sironi, I. Bestetti, S. Guzzetti, S. Bellone, A. Selicorni, A. Mussa, A. Riccio, G.B. Ferrero, S. Russo, L. Larizza, P. Finelli
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes
2019 F. Cogliati, V. Giorgini, M. Masciadri, M.T. Bonati, M. Marchi, I. Cracco, D. Gentilini, A. Peron, M.N. Savini, L. Spaccini, B. Scelsa, S. Maitz, E. Veneselli, G. Prato, M. Pintaudi, I. Moroni, A. Vignoli, L. Larizza, S. Russo
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression
2019 M. Bonati, C. Castronovo, A. Sironi, D. Zimbalatti, I. Bestetti, M. Crippa, A. Novelli, S. Loddo, M. Dentici, J. Taylor, F. Devillard, L. Larizza, P. Finelli
RAI1 intragenic deletion and concomitant overexpression in a syndromic patient: Smith-Magenis or Potocki-Lupski syndrome?
2018 A. Sironi, I. Bestetti, C. Boninsegna, M. Masciadri, S. Russo, C. Pantaleoni, S. D'Arrigo, L. Larizza, P. Finelli
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome
2018 E.A. Colombo, A. Locatelli, L. Cubells Sánchez, S. Romeo, N.H. Elcioglu, I. Maystadt, A.E. Martínez, A. Sironi, L. Fontana, P. Finelli, C. Gervasini, V. Pecile, L. Larizza
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants
2018 E.A. Colombo, N.H. Elcioglu, C. Graziano, P. Farinelli, E. DI FEDE, I. Neri, E. Facchini, M. Greco, C. Gervasini, L. Larizza
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature
2018 I. Bestetti, A. Sironi, I. Catusi, M. Mariani, D. Giardino, S. Manoukian, D. Milani, L. Larizza, C. Castronovo, P. Finelli
Rings and bricks : Expression of cohesin components is dynamic during development and adult life
2018 L.R. Bettini, F. Graziola, G. Fazio, P. Grazioli, V. Scagliotti, M. Pasquini, G. Cazzaniga, A. Biondi, L. Larizza, A. Selicorni, C. Gaston-Massuet, V. Massa
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature
2018 M. Crippa, S. Giangiobbe, R. Villa, I. Bestetti, T. De Filippis, L. Fatti, J. Taurino, L. Larizza, L. Persani, F. Bellini, P. Finelli, M. Bonati
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
2018 V. Cirello, V. Giorgini, C. Castronovo, S. Marelli, E. Mainini, A. Sironi, M. Recalcati, M. Pessina, D. Giardino, L. Larizza, L. Persani, P. Finelli, S. Russo, L. Fugazzola
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)
2018 V. Alari, S. Russo, D. Rovina, A. Gowran, M. Garzo, M. Crippa, L. Mazzanti, C. Scalera, E. Prosperi, D. Giardino, C. Gervasini, P. Finelli, G. Pompilio, L. Larizza
Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib
2017 D. Gupta, L. Chandrashekar, L. Larizza, E.A. Colombo, L. Fontana, C. Gervasini, D.M. Thappa, M. Rajappa, K.S. Rajendiran, G.S. Sreenath, V. Kate