GRANATA, FRANCESCA

GRANATA, FRANCESCA  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
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) -
An unusual diagnosis in a 31-year-old man with abdominal pain and hyponatremia 17-mar-2018 Depetri, FedericaCugno, MassimoGraziadei, GiovannaDi Pierro, ElenaGranata, FrancescaPeyvandi, FloraCappellini, Maria Domenica 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) -
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis 1-giu-2015 E. Di PierroV. BrancaleoniF. GranataM.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) -
Molecular basis of β-Thalassemia intermedia in Erbil Province of Iraqi Kurdistan 1-gen-2015 M.D. CappelliniE. Di PierroV. BrancaleoniF. Granata + 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) 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) -
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) -
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) -