Kolexia
Francina Alain
Médecine générale
Hôpital Edouard Herriot
Lyon, France
38 Activités
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{{person.topmesh1.name}} Alpha-Thalassémie Thalassémie Drépanocytose Bêta-Thalassémie Hémoglobinopathies Déficit en alpha-1-antitrypsine Trait drépanocytaire Hémolyse Anémie

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Dernières activités

SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.
Liver international : official journal of the International Association for the Study of the Liver   15 septembre 2017
Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers.
International journal of biological macromolecules   17 octobre 2016
Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.
Orphanet journal of rare diseases   07 octobre 2015
G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia.
European journal of haematology   30 juin 2015
Description of Three New α Variants and Four New β Variants: Hb Montluel α110(G17)Ala → Val; HBA1: c.332C > T, Hb Cap d'Agde α131(H14)Ser → Cys; HBA2: c.395C > G and Hb Corsica α100(G7)Leu → Pro; HBA1: 302T > C; Hb Nîmes β104(G6)Arg → Gly; HBB: c.313A > G, Hb Saint Marcellin β112(G14)Cys → Gly; HBB: c.337T > G, Hb Saint Chamond β80(EF4)Asn → 0; HBB: c.241_243delAAC and Hb Dompierre β29(B11)Gly → Arg; HBB: c.88G > C.
Hemoglobin   23 juin 2015
A new hemoglobin variant: Hb Meylan β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T with a double base mutation at the same codon.
Hemoglobin   05 décembre 2014
Description of the phenotypes of 63 heterozygous, homozygous and compound heterozygous patients carrying the Hb Groene Hart α119(H2)Pro→Ser; HBA1: c.358C>T variant.
Hemoglobin   10 octobre 2013
Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype.
Clinica chimica acta; international journal of clinical chemistry   29 septembre 2013
Massive haemolysis and methaemalbuminaemia in a patient with decompensated haemoglobin H disease.
British journal of haematology   09 août 2013
Two complex associations of an HBD mutation and a rare α hemoglobinopathy.
Hemoglobin   27 juin 2013