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Genetic variation patterns of β-thalassemia in Western Andalusia (Spain) reveal a structure of specific mutations within the Iberian Peninsula

Annals of human biology, 2021-07, Vol.48 (5), p.406-417

2021

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β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain

Frontiers in medicine, 2022-03, Vol.9, p.866396-866396

2022

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Two new mutations in the GLRX5 gene cause sideroblastic anemia

Blood cells, molecules, & diseases, 2023-09, Vol.102, p.102763-102763, Article 102763

2023

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Hb Murcia (β118(G19)His>Gln): A New Hemoglobin Variant Found in a Spanish Woman

Annals of Laboratory Medicine, 2021, 41(5), , pp.514-517

2021

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Sickle cell disease associated with thalassemia; description of a rare mutation

Clinical biochemistry, 2021-08, Vol.94, p.80-82

2021

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Hemoglobin Rothschild: A rare cause of low arterial oxygen saturation

Archivos de bronconeumología (English ed.), 2019-12, Vol.55 (12), p.657-659

2019

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Hb M-Saskatoon: An unusual cause of cyanosis in a Spanish child

Pediatric hematology oncology journal, 2019-03, Vol.4 (1), p.23-26

2019

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Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype

Journal of human genetics, 2014-10, Vol.59 (10), p.585-587

2014

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Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype

Journal of human genetics, 2014-10, Vol.59 (10), p.585-587

2014

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Hb Cibeles [α2 CD25(B6) (Gly → Asp)]: a novel alpha chain variant causing alpha-thalassemia

International journal of hematology, 2014-12, Vol.100 (6), p.599-601

2014

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Glutathione S -Transferases π1, α1 and µ3 Genetic Polymorphisms and the Risk of Hepatocellular Carcinoma in Humans

Pharmacogenomics, 2007-08, Vol.8 (8), p.895-899

2007

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Hb Maruchi [α165 (E14) Ala>Pro; HBA1: c.196G>C]: A new thalassemia hemoglobinopathy related to the alpha1 globin gene

Clinical biochemistry, 2021-06, Vol.92, p.77-81

2021

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Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain)

Annals of hematology, 2006-05, Vol.85 (5), p.323-326, Article 323

2006

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16189 Mitochondrial variant and iron overload

Annals of hematology, 2007-06, Vol.86 (6), p.463-464

2007

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Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia

Clinical biochemistry, 2019-01, Vol.63, p.139-142

2019

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Interference of Hemoglobin (Hb) Hope on Measurement of HbA1c Using an HPLC Method

Journal of diabetes science and technology, 2021-07, Vol.15 (4), p.974-975

2021

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Hb Palencia: a novel δβδ-type two-way fusion variant with β-globin-like expression levels

Journal of clinical pathology, 2019-01, Vol.72 (1), p.46-51

2019

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Effects of Hemoglobin Variants on Hemoglobin A1c Values Measured Using a High-Performance Liquid Chromatography Method

Journal of diabetes science and technology, 2014-11, Vol.8 (6), p.1168-1176

2014

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β-Intermediate Thalasemia: triplication of genes α / β thalassemia heterozygous in Spain

Anales de la Real Academia Nacional de Medicina, Madrid, 2021-04, Vol.138 (138(01)), p.60-71

2021

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Why is the novel Hb Miguel Servet visualised by CE-HPLC newborn and not by the CE-HPLC β-thalassaemia programme?

Journal of clinical pathology, 2021-03, Vol.74 (3), p.198-201

2021

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Does size matter? Two new deletions in the HBB gene cause β0-thalassemia

Annals of hematology, 2022-07, Vol.101 (7), p.1465-1471

2022

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Incidence of the HFE gene mutations in a cohort of non-Spanish origin neonates in Madrid

Annals of hematology, 2007-06, Vol.86 (6), p.459-462

2007

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Haemoglobinopathies that occur with decreased HbA2 levels: a gene mutation set involving the [delta] gene at a Spanish centre

Journal of clinical pathology, 2017-01, Vol.70 (1), p.75

2017

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Genetic variation patterns of β-thalassemia in Western Andalusia (Spain) reveal a structure of specific mutations within the Iberian Peninsula

β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain

Two new mutations in the GLRX5 gene cause sideroblastic anemia

Hb Murcia (β118(G19)His>Gln): A New Hemoglobin Variant Found in a Spanish Woman

Largest comparison between onset and relapses of acquired thrombotic thrombocytopenic purpura reveals severe neurological involvement and worse analytic parameters at debut

P1659: STUDY AND POSSIBLE DIAGNOSIS OF PATIENTS WITH THROMBOTIC MICROANGIOPATHIES WHO PRESENT ADAMTS13 ACTIVITIES BETWEEN 5‐10

Sickle cell disease associated with thalassemia; description of a rare mutation

Hemoglobin Rothschild: A rare cause of low arterial oxygen saturation

Hb M-Saskatoon: An unusual cause of cyanosis in a Spanish child

Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype

Heterozygosity for deletion of hypersensitive site 3 in the human locus control region has an unexpected minor effect on red cell phenotype

Hb Cibeles [α2 CD25(B6) (Gly → Asp)]: a novel alpha chain variant causing alpha-thalassemia

Glutathione S -Transferases π1, α1 and µ3 Genetic Polymorphisms and the Risk of Hepatocellular Carcinoma in Humans

Hb Maruchi [α165 (E14) Ala>Pro; HBA1: c.196G>C]: A new thalassemia hemoglobinopathy related to the alpha1 globin gene

Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain)

16189 Mitochondrial variant and iron overload

Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia

Interference of Hemoglobin (Hb) Hope on Measurement of HbA1c Using an HPLC Method

Hb Palencia: a novel δβδ-type two-way fusion variant with β-globin-like expression levels

Effects of Hemoglobin Variants on Hemoglobin A1c Values Measured Using a High-Performance Liquid Chromatography Method

β-Intermediate Thalasemia: triplication of genes α / β thalassemia heterozygous in Spain

Why is the novel Hb Miguel Servet visualised by CE-HPLC newborn and not by the CE-HPLC β-thalassaemia programme?

Does size matter? Two new deletions in the HBB gene cause β0-thalassemia

Incidence of the HFE gene mutations in a cohort of non-Spanish origin neonates in Madrid

Haemoglobinopathies that occur with decreased HbA2 levels: a gene mutation set involving the [delta] gene at a Spanish centre

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