Detalhe da pesquisa
1.
Celocentesis for Early Prenatal Diagnosis in Couples at-Risk for ß-Thalassemia and Sicilian (δß)0-Thalassemia.
Hemoglobin
; 46(6): 297-302, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-36876862
2.
Very early prenatal diagnosis of Cockayne's syndrome by coelocentesis.
J Obstet Gynaecol
; 42(5): 1524-1531, 2022 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-35006018
3.
Rasburicase-induced Methemoglobinemia: A Case Report and Literature Review.
J Pediatr Hematol Oncol
; 43(6): e886-e890, 2021 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33122582
4.
Double Heterozygosity for Hb Durham-N.C. (HBB: c.344T>C) [ß114(G16)LeuâPro] and the IVS-I-110 (HBB: c.93-21G>A) Causing a Severe ß-Thalassemia Phenotype.
Hemoglobin
; 43(3): 210-213, 2019 May.
Artigo
Inglês
| MEDLINE | ID: mdl-31456457
5.
Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies.
Acta Obstet Gynecol Scand
; 97(3): 312-321, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-29292496
6.
2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.
Blood
; 126(1): 89-93, 2015 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26019277
7.
HBB: c.316-125A>G and HBB: c.316-42delC: Phenotypic Evaluations of Two Rare Changes in the Second Intron of the HBB Gene.
Hemoglobin
; 41(4-6): 234-238, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29171316
8.
Phenotypic Evaluation of a Novel Nucleotide Substitution (HBD: c.442T>C) on the δ-Globin Gene.
Hemoglobin
; 41(3): 220-222, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28840768
9.
Embryo-fetal erythroid cell selection from celomic fluid allows earlier prenatal diagnosis of hemoglobinopathies.
Prenat Diagn
; 36(4): 375-81, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26891446
10.
Identification of embryo-fetal cells in celomic fluid using morphological and short-tandem repeats analysis.
Prenat Diagn
; 36(10): 973-978, 2016 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-27592841
11.
Coinheritance of a Rare Nucleotide Substitution on the ß-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling.
Hemoglobin
; 40(4): 231-5, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27258795
12.
Hb San Cataldo [ß144(HC1)LysâThr; HBB: C.434A > C]: A New Hemoglobin Variant with Increased Affinity for Oxygen.
Hemoglobin
; 40(4): 223-7, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27250824
13.
Co-inheritance of the rare ß hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling.
Eur J Haematol
; 94(4): 322-9, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25113778
14.
Identification of three new nucleotide substitutions in the ß-globin gene: laboratoristic approach and impact on genetic counselling for beta-thalassaemia.
Eur J Haematol
; 92(5): 444-9, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24401016
15.
Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset ß-thalassemia major.
Haematologica
; 98(5): 691-5, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22983591
16.
The heterozygote state for ß-thalassemia detrimentally affects health outcomes.
Am J Hematol
; 92(3): E23-E25, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27935096
17.
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
Inglês
| MEDLINE | ID: mdl-36143073
18.
Early prenatal diagnosis of Hb Lepore Boston-Washington and ß-thalassemia on fetal celomatic DNA.
Int J Lab Hematol
; 44(4): 796-802, 2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-35333433
19.
Celomic Fluid: Laboratory Workflow for Prenatal Diagnosis of Monogenic Diseases.
Mol Diagn Ther
; 26(2): 239-252, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35175567
20.
Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid.
Life (Basel)
; 13(1)2022 Dec 21.
Artigo
Inglês
| MEDLINE | ID: mdl-36675969