FINELLI, PALMA

FINELLI, PALMA  

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale  

Risultati 1 - 20 di 115 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autore(i) Tipo File Abstract
13q deletion and CNS anomalies : further insights from karyotype-phenotype analyses of 14 patients 1-gen-2007 P. FinelliL. Larizza + Article (author) -
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature 1-set-2018 Bestetti I.Sironi A.Catusi I.Mariani M.Larizza L.Castronovo C.Finelli P. + Article (author) -
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression 1-ago-2019 Castronovo CSironi AZimbalatti DBestetti ICrippa MLarizza LFinelli P. + Article (author) -
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype 1-nov-2012 F.M. ElliC. GiavoliL. DioniM. CrippaP. FinelliS. BergamaschiF. MoscaA. SpadaP. Beck Peccoz + Article (author) -
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype 1-mar-2013 D. RusconiM. CrippaC. GervasiniL. LarizzaP. Finelli + Article (author) -
A panel of subchromosomal painting libraries representing over 300 regions of the human genome 1-gen-1995 P. Finelli + Article (author) -
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 25-nov-2012 C. GervasiniG. NegriP. ColapietroD. Rusconi..R. TenconiP. FinelliS. SpenaL. Larizza + Book Part (author) -
ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing 1-gen-2013 S. MonciniP. CastronovoM. CrippaP. FinelliM. Venturin + Article (author) -
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature 1-ago-2018 M. CrippaS. GiangiobbeR. VillaI. BestettiL. FattiTAURINO, JACOPOL. LarizzaL. PersaniF. BelliniP. Finelli + Article (author) -
Central nervous system developmental disorder in Noonan syndrome: a genomic approach 1-mag-2014 M. CrippaI. BestettiA. SironiP. Finelli + Conference Object -
Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits 1-ago-2010 L. LarizzaP. Finelli + Article (author) -
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire 1-gen-2015 D. RusconiG. NegriP. ColapietroS. SpenaP. FinelliL. LarizzaC. Gervasini + Article (author) -
Characterization of chimpanzee-hamster hybrids by chromosome painting 1-set-1994 P. Finelli + Article (author) -
Characterization of the t(4;14)(p16.3;q32) in the KMS-18 multiple myeloma cell line 1-mag-2001 D. RonchettiP. FinelliA. Neri + Article (author) -
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene 1-gen-2015 G. NegriD. MilaniP. ColapietroD. RusconiP. FinelliS. SpenaL. LarizzaC. Gervasini + Article (author) -
Cloning and comparative mapping of a recently evolved human chromosome 22-specific alpha satellite DNA 1-set-1994 P. Finelli + Article (author) -
Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion 1-giu-2011 D. RusconiL. LarizzaP. Finelli + Article (author) -
Comparative fluorescence in situ hybridization mapping of primate chromosomes with Alu polymerase chain reaction generated probes from human/rodent somatic cell hybrids 1-gen-1996 P. Finelli + Article (author) -
Comparative mapping of human alphoid sequences in great apes using fluorescence in situ hybridization 1-gen-1995 P. Finelli + 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. 1-gen-2015 C. CastronovoM. CrippaI. BestettiD. RusconiL. LarizzaP. Finelli + Article (author) -