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Hemoglobin
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June 29, 2013
Two complex associations of an HBD mutation and a rare α hemoglobinopathy
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Hemoglobin
|
October 12, 2013
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
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Hemoglobin
|
August 24, 2005
A mutation of the beta-globin gene initiation codon, ATG-->AAG, found in a French Caucasian man
Philippe Lacan, Martine Aubry, Nicole Couprie, et al.
Hemoglobin
|
May 9, 2007
Two new beta0-thalassemic mutations: a deletion (-CC) at codon 142 or overlapping codons 142-143, and an insertion (+T) at codon 45 or overlapping codons 44-45/45-46 of the beta-globin gene
Philippe Lacan, Martine Aubry, Nicole Couprie, et al.
Blood Cells, Molecules & Diseases
|
March 10, 2009
Identification and molecular characterization of four new large deletions in the beta-globin gene cluster
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Clinical Biochemistry
|
September 29, 2009
Rapid genotyping of two common G6PD variants, African (A-) and Mediterranean, by high-resolution melting analysis
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Hemoglobin
|
March 23, 2011
Two new hemoglobin variants: Hb Aix-Les-Bains [β5(A2)Pro→Leu; HBB:c.17 C>T] and Hb Dubai [α122(H5)His→Leu (α2); HBA2:c.368 A>T]
Philippe Joly, Caroline Garcia, Philippe Lacan, et al.
Hemoglobin
|
June 24, 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]
Céline Renoux, Cécile Feray, Philippe Joly, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 29, 2011
Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Hemoglobin
|
June 29, 2012
A new Frameshift mutation on the α2-globin gene causing α⁺-thalassemia: codon 43 (TTC>-TC or TTC>T-C)
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 27) with videos related to
Sort By:
Page
of 3
Hemoglobin
|
June 29, 2013
Two complex associations of an HBD mutation and a rare α hemoglobinopathy
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Hemoglobin
|
October 12, 2013
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
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Hemoglobin
|
August 24, 2005
A mutation of the beta-globin gene initiation codon, ATG-->AAG, found in a French Caucasian man
Philippe Lacan, Martine Aubry, Nicole Couprie, et al.
Hemoglobin
|
May 9, 2007
Two new beta0-thalassemic mutations: a deletion (-CC) at codon 142 or overlapping codons 142-143, and an insertion (+T) at codon 45 or overlapping codons 44-45/45-46 of the beta-globin gene
Philippe Lacan, Martine Aubry, Nicole Couprie, et al.
Blood Cells, Molecules & Diseases
|
March 10, 2009
Identification and molecular characterization of four new large deletions in the beta-globin gene cluster
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Clinical Biochemistry
|
September 29, 2009
Rapid genotyping of two common G6PD variants, African (A-) and Mediterranean, by high-resolution melting analysis
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Hemoglobin
|
March 23, 2011
Two new hemoglobin variants: Hb Aix-Les-Bains [β5(A2)Pro→Leu; HBB:c.17 C>T] and Hb Dubai [α122(H5)His→Leu (α2); HBA2:c.368 A>T]
Philippe Joly, Caroline Garcia, Philippe Lacan, et al.
Hemoglobin
|
June 24, 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]
Céline Renoux, Cécile Feray, Philippe Joly, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
March 29, 2011
Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Hemoglobin
|
June 29, 2012
A new Frameshift mutation on the α2-globin gene causing α⁺-thalassemia: codon 43 (TTC>-TC or TTC>T-C)
Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
Page
of 3