BRANCALEONI, VALENTINA

BRANCALEONI, VALENTINA  

Universita' degli Studi di MILANO  

Mostra records
Risultati 1 - 18 di 18 (tempo di esecuzione: 0.005 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure 2021 Granata, FrancescaDuca, LorenaBrancaleoni, ValentinaFustinoni, SilviaDe Luca, GiacomoMotta, IreneDi Pierro, Elena + Article (author) -
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy 2020 Brancaleoni, ValentinaDi Pierro, ElenaGraziadei, GiovannaGranata, FrancescaFiorentino, ValeriaFustinoni, SilviaCappellini, Maria Domenica + Article (author) -
Activin receptor-ligand trap for the treatment of β-thalassemia : a serendipitous discovery 2020 Brancaleoni, ValentinaNava, IsabellaDelbini, PaolaDuca, LorenaMotta, Irene Article (author) -
Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism 2019 Chiara, MatteoTarantini, LetiziaAgnelli, LucaBrancaleoni, ValentinaGranata, FrancescaBollati, ValentinaDi Pierro, Elena + Article (author) -
Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria (EPP) patients 2019 Granata F.Duca L.Graziadei G.Brancaleoni V.Missineo P.Fustinoni S. + Article (author) -
Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes 2018 Brancaleoni, ValentinaDi Pierro, ElenaCappellini, Maria Domenica + Article (author) -
Digital PCR (dPCR) analysis reveals that the homozygous c.315–48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP) 2018 V. BrancaleoniF. GranataP. MissineoS. FustinoniE. Di Pierro + Article (author) -
The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5′ untranslated exon 1 2016 FIORENTINO, VALERIAV. BrancaleoniF. GranataG. GraziadeiE. Di Pierro Article (author) -
Seven novel genetic mutations within the 5 ' UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria (vol 49, pg 147, 2012) 2016 V. BrancaleoniF. GranataA. ColanceccoD. TavazziM.D. CappelliniE. Di Pierro Article (author) -
Laboratory diagnosis of thalassemia 2016 V. BrancaleoniE. Di PierroI. MottaM.D. Cappellini Article (author) -
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria 2016 V. BrancaleoniF. GranataP. MissineoV. FiorentinoS. FustinoniM.D. Cappellini + Article (author) -
Molecular basis of β-Thalassemia intermedia in Erbil Province of Iraqi Kurdistan 2015 M.D. CappelliniE. Di PierroV. BrancaleoniF. Granata + Article (author) -
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis 2015 E. Di PierroV. BrancaleoniF. GranataM.D. Cappellini + Article (author) -
Probes for use in diagnsing Porphyria and allelic quantification of porphyria related genes by ligation and amplification reactions - gene HMBS 2014 E. Di PierroM.D. CappelliniV. Brancaleoni + Patent -
Does C-terminal deletion in the ALAS2 gene cause x-linked dominant or recessive protoporphyria? 2012 V. BrancaleoniE. Di PierroF. GranataM.D. Cappellini + Article (author) -
Seven novel genetic mutations within the 5’utr and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria 2012 F. GranataV. BrancaleoniD. TavazziM..D. CappelliniE. Di Pierro Article (author) -
Seven novel genetic mutations within the 5′UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria 2012 V. BrancaleoniF. GranataA. ColanceccoD. TavazziM.D. CappelliniE. Di Pierro Article (author) -
Congenital microcytic anaemia does not always mean thalassemia 2011 G. GraziadeiV. BrancaleoniE. Di PierroM.D. Cappellini + Article (author) -