CRIPPA, MILENA

CRIPPA, MILENA  

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale  

Mostra records
Risultati 1 - 20 di 34 (tempo di esecuzione: 0.013 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
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) -
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) -
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) -
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome 2020 Fontana L.Cagnoli G. A.Persico N.Colapietro P.Crippa M.Sirchia s. m.Miozzo M.Tabano S. + Article (author) -
A familial t(4;8) translocation segregates with epilepsy and migraine with aura 2020 Crippa M.Larizza L.Finelli P. + Article (author) -
High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function 2019 Bestetti, ISironi, ACaslini, CCrippa, MFerrari, IPistocchi, APersani, LMarozzi, AFinelli, 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) -
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome : the interconnections of epigenetic machinery disorders 2019 Crippa, MilenaDi Fede, ElisabettaColombo, Elisa AdeleFinelli, PalmaGervasini, Cristina + Article (author) -
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations 2019 Crippa M.Finelli P.Gervasini C. + Article (author) -
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression 2019 Castronovo CSironi AZimbalatti DBestetti ICrippa MLarizza LFinelli P. + 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) -
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) -
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients : New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 2016 G. NegriD. MilaniP. ColapietroD. RusconiM. CrippaP. FinelliL. LarizzaC. Gervasini + Article (author) -
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature. 2015 C. CastronovoM. CrippaI. BestettiD. RusconiL. LarizzaP. Finelli + Article (author) -
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome 2015 M. CrippaD. RusconiC. CastronovoI. BestettiL. LarizzaP. Finelli + Article (author) -
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors 2015 I. BestettiM. CrippaP. Finelli + Article (author) -
Fetal cell microchimerism : a protective role in autoimmune thyroid diseases 2015 V. CirelloM. CrippaI. CampiC. ColomboS. FerreroP. FinelliL. Fugazzola + Article (author) -
Identification of rare CNVs involving genes acting in oocyte maturation and differentiation in a cohort of patients affected by Primary Ovarian Insufficiency 2014 I. BestettiC. CastronovoM. CrippaR. RossettiA. PistocchiC. CasliniL. PersaniA. MarozziP. Finelli + Conference Object -
Submicroscopic genomic alterations detected by array CGH analysis in a cohort of patients with Silver Russell syndrome found negative to classical genetic and epigenetic tests 2014 M. CrippaA. SironiL. LarizzaP. Finelli + Conference Object -
Central nervous system developmental disorder in Noonan syndrome: a genomic approach 2014 M. CrippaI. BestettiA. SironiP. Finelli + Conference Object -