Detalhe da pesquisa
1.
Absence of blood donors' anti-SARS-CoV-2 antibodies in pre-storage leukoreduced red blood cell units indicates no role of passive immunity for blood recipients.
Ann Hematol
; 103(2): 623-629, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37758964
2.
Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria.
N Engl J Med
; 382(9): 835-844, 2020 02 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32101665
3.
Long-term improvement in cardiac magnetic resonance in ß-thalassemia major patients treated with deferasirox extends to patients with abnormal baseline cardiac function.
Am J Hematol
; 94(3): 312-318, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30489651
4.
Life-Threatening Drug-Induced Liver Injury in a Patient with ß-Thalassemia Major and Severe Iron Overload on Polypharmacy.
Hemoglobin
; 42(3): 213-216, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30251901
5.
Iron overload enhances human mesenchymal stromal cell growth and hampers matrix calcification.
Biochim Biophys Acta
; 1860(6): 1211-23, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26850692
6.
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
Am J Hum Genet
; 88(1): 115-20, 2011 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21211618
7.
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
BMC Med Genet
; 15: 44, 2014 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24767283
8.
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Blood
; 117(24): 6673-80, 2011 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21467542
9.
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
Haematologica
; 98(10): 1624-32, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23716564
10.
Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload.
Am J Hematol
; 93(3): E58-E60, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178181
11.
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
Haematologica
; 97(1): 82-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21933849
12.
First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE).
J Clin Med
; 11(18)2022 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36143073
13.
Response to Measles, Mumps and Rubella (MMR) Vaccine in Transfusion-Dependent Patients.
Vaccines (Basel)
; 9(6)2021 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34072263
14.
Juvenile erythrocytosis in children after liver transplantation: prevalence, risk factors and outcome.
Sci Rep
; 10(1): 9683, 2020 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32546701
15.
Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis.
Haematologica
; 94(12): 1753-7, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19608679
16.
Hb Vanvitelli: A new unstable α-globin chain variant causes undiagnosed chronic haemolytic anaemia when co-inherited with deletionâ¯-â¯α3.7.
Clin Biochem
; 74: 80-85, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31493379
17.
Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene.
Eur J Endocrinol
; 181(3): 233-244, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31238300
18.
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations.
Eur J Endocrinol
; 172(4): 461-72, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25740874
19.
HNF-1ß mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred.
J Nephrol
; 26(1): 207-12, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-22641569
20.
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Orphanet J Rare Dis
; 6: 89, 2011 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-22208203