Detalhe da pesquisa
1.
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.
Genet Med
; 22(1): 35-43, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273344
2.
Common fetal hemoglobin variants in Lebanese patients bearing the codon 29 beta gene mutation associated with different thalassemia phenotypes.
Ann Hematol
; 98(4): 833-840, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30506348
3.
Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).
Mol Genet Metab
; 124(4): 287-296, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29941360
4.
Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP).
Mol Genet Metab
; 125(3): 295-301, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201327
5.
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
Br J Haematol
; 173(3): 365-79, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26969896
6.
The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.
Blood Cells Mol Dis
; 61: 48-53, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667166
7.
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.
Eur J Haematol
; 94(6): 491-7, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25251786
8.
Molecular Basis of ß-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.
Hemoglobin
; 39(3): 178-83, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25902180
9.
RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
medRxiv
; 2023 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945604
10.
RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.
Dev Cell
; 58(20): 2112-2127.e4, 2023 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586368
11.
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.
Blood Cells Mol Dis
; 49(3-4): 147-51, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22748422
12.
Associated Effect of SLC40A1 and TMPRSS6 Polymorphisms on Iron Overload.
Metabolites
; 12(10)2022 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36295822
13.
Microcytosis in Erythropoietic Protoporphyria.
Front Physiol
; 13: 841050, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35309058
14.
Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients.
Front Physiol
; 13: 886194, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35923227
15.
Corrigendum to "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" [Blood Cells Mol. Dis. 49 (2012) 147-151].
Blood Cells Mol Dis
; 62: 67, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693411
16.
Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure.
Front Immunol
; 12: 615620, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33664746
17.
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Front Physiol
; 12: 684569, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34093240
18.
Activin Receptor-Ligand Trap for the Treatment of ß-thalassemia: A Serendipitous Discovery.
Mediterr J Hematol Infect Dis
; 12(1): e2020075, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33194149
19.
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy.
Eur J Dermatol
; 30(5): 532-540, 2020 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33021473
20.
Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria.
J Hum Genet
; 54(8): 479-87, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19629139