LARIZZA, LIDIA

LARIZZA, LIDIA  

Dipartimento di Scienze della Salute  

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Titolo Data di pubblicazione Autori Tipo File Abstract
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome 2024 Bestetti I.Tumiatti F.Larizza L.Finelli P. + Article (author) -
Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants 2022 Alari, ValentinaVimercati, AlessandroGarzo, MariaMilani, DonatellaVignoli, AglaiaPeron, AngelaLarizza, LidiaRusso, Silvia + Article (author) -
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele 2022 Sironi A.Bestetti I.Masciadri M.Tumiatti F.Crippa M.Larizza L.Finelli P. + Article (author) -
Histone deacetylase inhibitors ameliorate morphological defects and hypoexcitability of iPSC-neurons from Rubinstein-Taybi patients 2021 Scalmani P.Catusi I.Lonati P. A.Borghi M. O.Finelli P.Terragni B.Larizza L. + Article (author) -
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency 2021 Bestetti, ISironi, ACaslini, CGentilini, DCrippa, MLarizza, LMarozzi, AFinelli, P + Article (author) -
Ring Chromosome 20 Syndrome : Genetics, Clinical Characteristics, and Overlapping Phenotypes 2020 Peron, AngelaCatusi, IlariaRecalcati, Maria PaolaLarizza, LidiaVignoli, AglaiaCanevini, Maria Paola + Article (author) -
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome 2020 Crippa M.Bestetti I.Maitz S.Spano A.Masciadri M.Larizza L.Finelli P. + Article (author) -
A familial t(4;8) translocation segregates with epilepsy and migraine with aura 2020 Crippa M.Larizza L.Finelli P. + Article (author) -
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes 2019 Crippa, MilenaGervasini, CristinaSironi, AlessandraBestetti, IlariaRusso, SilviaLarizza, LidiaFinelli, Palma + Article (author) -
Pathogenic variants in STXBP1 and in genes for GABAa receptor subunities cause atypical rett/rett-like phenotypes 2019 Giorgini V.Masciadri M.Marchi M.Gentilini D.Peron A.Savini M. N.Maitz S.Vignoli A.Larizza L. + Article (author) -
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression 2019 Castronovo CSironi AZimbalatti DBestetti ICrippa MLarizza LFinelli P. + Article (author) -
RAI1 intragenic deletion and concomitant overexpression in a syndromic patient: Smith-Magenis or Potocki-Lupski syndrome? 2018 Sironi ABestetti IBoninsegna CLarizza LFinelli P + Conference Object -
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome 2018 E. A. ColomboA. LocatelliA. SironiL. FontanaP. FinelliC. GervasiniL. Larizza + Article (author) -
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 Colombo, Elisa ADI FEDE, ELISABETTAGervasini, CristinaLarizza, Lidia + Article (author) -
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature 2018 Bestetti I.Sironi A.Catusi I.Mariani M.Larizza L.Castronovo C.Finelli P. + Article (author) -
Rings and bricks : Expression of cohesin components is dynamic during development and adult life 2018 P. GrazioliG. CazzanigaL. LarizzaV. Massa + Article (author) -
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature 2018 M. CrippaS. GiangiobbeR. VillaI. BestettiL. FattiTAURINO, JACOPOL. LarizzaL. PersaniF. BelliniP. Finelli + Article (author) -
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features 2018 Cirello VGiorgini VCastronovo CSironi ALarizza LPersani LFinelli PFugazzola L. + Article (author) -
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. AlariM. CrippaC. GervasiniP. FinelliG. PompilioL. Larizza + Article (author) -
Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib 2017 L. LarizzaE.A. ColomboL. FontanaC. Gervasini + Article (author) -