BRANCALEONI, VALENTINA

BRANCALEONI, VALENTINA  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Risultati 1 - 18 di 18 (tempo di esecuzione: 0.004 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Activin receptor-ligand trap for the treatment of β-thalassemia : a serendipitous discovery 1-nov-2020 Brancaleoni, ValentinaNava, IsabellaDelbini, PaolaDuca, LorenaMotta, Irene Article (author) -
Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure 16-feb-2021 Granata, FrancescaDuca, LorenaBrancaleoni, ValentinaFustinoni, SilviaDe Luca, GiacomoMotta, IreneDi Pierro, Elena + Article (author) -
The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5′ untranslated exon 1 1-ott-2016 FIORENTINO, VALERIAV. BrancaleoniF. GranataG. GraziadeiE. Di Pierro Article (author) -
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy 1-ott-2020 Brancaleoni, ValentinaDi Pierro, ElenaGraziadei, GiovannaGranata, FrancescaFiorentino, ValeriaFustinoni, SilviaCappellini, Maria Domenica + Article (author) -
Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes 30-nov-2018 Brancaleoni, ValentinaDi Pierro, ElenaCappellini, Maria Domenica + Article (author) -
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis 1-giu-2015 E. Di PierroV. BrancaleoniF. GranataM.D. Cappellini + Article (author) -
Congenital microcytic anaemia does not always mean thalassemia 1-dic-2011 G. GraziadeiV. BrancaleoniE. Di PierroM.D. Cappellini + Article (author) -
Digital PCR (dPCR) analysis reveals that the homozygous c.315–48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP) 1-ago-2018 V. BrancaleoniF. GranataP. MissineoS. FustinoniE. Di Pierro + Article (author) -
Does C-terminal deletion in the ALAS2 gene cause x-linked dominant or recessive protoporphyria? 1-gen-2012 V. BrancaleoniE. Di PierroF. GranataM.D. Cappellini + Article (author) -
Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria (EPP) patients 1-ott-2019 Granata F.Duca L.Graziadei G.Brancaleoni V.Missineo P.Fustinoni S. + Article (author) -
Laboratory diagnosis of thalassemia 1-gen-2016 V. BrancaleoniE. Di PierroI. MottaM.D. Cappellini Article (author) -
Molecular basis of β-Thalassemia intermedia in Erbil Province of Iraqi Kurdistan 1-gen-2015 M.D. CappelliniE. Di PierroV. BrancaleoniF. Granata + Article (author) -
Probes for use in diagnsing Porphyria and allelic quantification of porphyria related genes by ligation and amplification reactions - gene HMBS 9-apr-2014 E. Di PierroM.D. CappelliniV. Brancaleoni + Patent -
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) 29-set-2016 V. BrancaleoniF. GranataA. ColanceccoD. 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 1-gen-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 1-gen-2012 V. BrancaleoniF. GranataA. ColanceccoD. TavazziM.D. CappelliniE. Di Pierro 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 5-lug-2019 Chiara, MatteoTarantini, LetiziaAgnelli, LucaBrancaleoni, ValentinaGranata, FrancescaBollati, ValentinaDi Pierro, Elena + Article (author) -
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria 1-gen-2016 V. BrancaleoniF. GranataP. MissineoV. FiorentinoS. FustinoniM.D. Cappellini + Article (author) -