Detalhe da pesquisa
1.
Does size matter? Two new deletions in the HBB gene cause ß0-thalassemia.
Ann Hematol
; 101(7): 1465-1471, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35467101
2.
Genetic variation patterns of ß-thalassemia in Western Andalusia (Spain) reveal a structure of specific mutations within the Iberian Peninsula.
Ann Hum Biol
; 48(5): 406-417, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34727790
3.
Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene.
Hemoglobin
; 44(1): 17-19, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32000548
4.
Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.
Ann Hematol
; 98(7): 1537-1545, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31025160
5.
Development and validation of a multivariable prediction rule for detecting a severe acquired ADAMTS13 activity deficiency in patients with thrombotic microangiopathies.
Clin Chem Lab Med
; 56(2): 294-302, 2018 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796639
6.
HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies.
Clin Chem Lab Med
; 54(4): 553-60, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26485748
7.
Identification of a novel mutation in the ß-globin gene 3' untranslated region (HBB: c.*+118A > G) in Spain.
Hemoglobin
; 39(1): 30-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25572186
8.
Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype.
J Hum Genet
; 59(10): 585-7, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25186056
9.
Erythrocytosis in a child due to Hb Andrew-Minneapolis [ß144(HC1)LysâAsn (AAG>AAT or AAC)] associated with a Spanish (δß)(0)-thalassemia.
Hemoglobin
; 37(1): 48-55, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23215953
10.
Association in cis of the mutations +20 (C>T) in the 5' untranslated region and IVS-II-745 (C>G) on the ß-globin gene.
Hemoglobin
; 37(2): 112-8, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23425204
11.
Low affinity hemoglobinopathy (Hb Vigo) due to a new mutation of beta globin gene (c200 A>T; Lys>Ile). A cause of rare anemia misdiagnosis.
Am J Hematol
; 92(4): E38-E40, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28066926
12.
Study of three families with Hb Agrinio [α29(B10)LeuâPro, CTG>CCG (α2)] in the Spanish population: three homozygous cases.
Hemoglobin
; 36(6): 526-32, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23094635
13.
ß-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With ß-thalassemia Heterozygous in Spain.
Front Med (Lausanne)
; 9: 866396, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35402459
14.
Hb Extremadura [ß64(E8)GlyâSer;ß133(H11)ValâLeu]: a new molecular analysis.
Hemoglobin
; 35(4): 423-7, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21797709
15.
Hb Maruchi [α165 (E14) Ala>Pro; HBA1: c.196G>C]: A new thalassemia hemoglobinopathy related to the alpha1 globin gene.
Clin Biochem
; 92: 77-81, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675809
16.
Why is the novel Hb Miguel Servet visualised by CE-HPLC newborn and not by the CE-HPLC ß-thalassaemia programme?
J Clin Pathol
; 74(3): 198-201, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32796052
17.
Hemoglobin Valme HBB:c.124T>G: a new hemoglobin variant with diminished oxygen affinity causes interference in hemoglobin A1c measurement in an automated ion-exchange HPLC method.
Clin Chem Lab Med
; 53(9): e211-3, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25781690
18.
C>A substitution in NT 46 of the 3' UTR region (the α complex protected region) of the alpha-1 globin gene: a non-deletional mutation or polymorphism?
J Clin Pathol
; 73(1): 14-16, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31434698
19.
[Prenatal diagnosis of hemoglobinopathies and thalassemias]. / Diagnóstico prenatal de hemoglobinopatías y talasemias.
Med Clin (Barc)
; 132(2): 53-6, 2009 Jan 24.
Artigo
em Espanhol
| MEDLINE | ID: mdl-19174070
20.
Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia.
Clin Biochem
; 63: 139-142, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595158