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11 .
Coinheritance of PIEZO1 variants and multi‐locus red blood cell defects account for the symptomatic phenotype in beta‐thalassemia carriers
저자
by
Valeria Maria Pinto
;
Roberta Russo
;
Sabrina Quintino
;
Barbara Eleni Rosato
;
Roberta Marra
, et al.
소스
American Journal of Hematology
. 98
Full Text (Wiley)
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17 . Academic Journal
Gain‐of‐function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway.
저자
by
Andolfo, Immacolata
;
Rosato, Barbara Eleni
;
Manna, Francesco
;
De Rosa, Gianluca
;
Marra, Roberta
, et al.
소스
American Journal of Hematology; Feb2020, Vol. 95 Issue 2, p188-197, 10p
Full Text (Wiley)
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17 . Academic Journal
The BMP‐SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE‐A260S variant.
저자
by
Andolfo, Immacolata
;
Rosato, Barbara Eleni
;
Marra, Roberta
;
De Rosa, Gianluca
;
Manna, Francesco
, et al.
소스
American Journal of Hematology; Nov2019, Vol. 94 Issue 11, p1227-1235, 9p
Full Text (Wiley)
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17 .
PIEZO1
mutations impact on early clinical manifestations of myelodysplastic syndromes
저자
by
Enrico Attardi
;
Immacolata Andolfo
;
Roberta Russo
;
Lucia Tiberi
;
Marco Gabriele Raddi
, et al.
소스
American Journal of Hematology
. 98
Full Text (Wiley)
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17 .
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations
저자
by
Immacolata Andolfo
;
Vittoria Monaco
;
Flora Cozzolino
;
Barbara Eleni Rosato
;
Roberta Marra
, et al.
소스
Blood advances
.
Open Access (OpenAIRE)
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17 . Academic Journal
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.
저자
by
Russo, Roberta
;
Marra, Roberta
;
Andolfo, Immacolata
;
De Rosa, Gianluca
;
Rosato, Barbara Eleni
, et al.
소스
Frontiers in Physiology; 5/22/2019, pN.PAG-N.PAG, 10p
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17 . Academic Journal
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells.
저자
by
Andolfo, Immacolata
;
De Rosa, Gianluca
;
Errichiello, Edoardo
;
Manna, Francesco
;
Rosato, Barbara Eleni
, et al.
소스
Frontiers in Physiology; 3/15/2019, pN.PAG-N.PAG, 7p
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17 . Academic Journal
Genotype‐phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.
저자
by
Andolfo, Immacolata
;
Russo, Roberta
;
Rosato, Barbara Eleni
;
Manna, Francesco
;
Gambale, Antonella
, et al.
소스
American Journal of Hematology; Dec2018, Vol. 93 Issue 12, p1509-1517, 9p
Full Text (Wiley)
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17 . Academic Journal
Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias.
저자
by
Russo, Roberta
;
Andolfo, Immacolata
;
Manna, Francesco
;
Gambale, Antonella
;
Marra, Roberta
, et al.
소스
American Journal of Hematology; May2018, Vol. 93 Issue 5, p672-682, 11p
Full Text (Wiley)
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17 . Academic Journal
Uridine treatment normalizes thecongenital dyserythropoietic anemia typeII-like hematological phenotype in a patient with homozygous mutation in theCADgene
저자
by
Russo, Roberta
;
Marra, Roberta
;
Andolfo, Immacolata
;
Manna, Francesco
;
De Rosa, Gianluca
, et al.
소스
AMERICAN JOURNAL OF HEMATOLOGY
; NOV 2020, 95 11, p1423-p1426, 4p.
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