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Philippe Joly

Showing results (11-20 of 148) with videos related to

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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.
American Journal of Human Biology : the Official Journal of the Human Biology Council|June 3, 2016
Genetic modulators of sickle cell disease in French Guiana: Markers of the slave tradeChristine Simonnet, Narcisse Elanga, Philippe Joly, et al.
Clinical Chemistry and Laboratory Medicine|September 10, 2015
Hb Hope [β136Gly→Asp] and Hb Grady [α119_120insGluPheThr] compound heterozygosity in a Mauritanian patientHervé Delacour, Johanna Konopacki, Julie Plantamura, et al.
Hemoglobin|February 1, 2019
An Additional Case of Hb Saint Nazaire [β103(G5)Phe→Ile; <i>HBB</i>: c.310T>A] Leading to Moderate Erythrocytosis in a French FamilyVictor Bobée, Guillaume Feugray, Valéry Brunel, et al.
Hemoglobin|September 22, 2010
Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) β(+)-thalassemia mutation and the δ(0)β(+)-Senegalese deletionCéline Griffon, Philippe Joly, Agathe Sénéchal, et al.
Blood Cells, Molecules & Diseases|March 10, 2009
Identification and molecular characterization of four new large deletions in the beta-globin gene clusterPhilippe 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 analysisPhilippe Joly, Philippe Lacan, Caroline Garcia, et al.
European Journal of Haematology|September 14, 2011
The alpha-globin genotype does not influence sickle cell disease severity in a retrospective cross-validation study of the pediatric severity scorePhilippe Joly, Corinne Pondarré, Claire Bardel, 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.
Pageof 15

Showing results (11-20 of 148) with videos related to

Sort By:
Pageof 15
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.
American Journal of Human Biology : the Official Journal of the Human Biology Council|June 3, 2016
Genetic modulators of sickle cell disease in French Guiana: Markers of the slave tradeChristine Simonnet, Narcisse Elanga, Philippe Joly, et al.
Clinical Chemistry and Laboratory Medicine|September 10, 2015
Hb Hope [β136Gly→Asp] and Hb Grady [α119_120insGluPheThr] compound heterozygosity in a Mauritanian patientHervé Delacour, Johanna Konopacki, Julie Plantamura, et al.
Hemoglobin|February 1, 2019
An Additional Case of Hb Saint Nazaire [β103(G5)Phe→Ile; <i>HBB</i>: c.310T>A] Leading to Moderate Erythrocytosis in a French FamilyVictor Bobée, Guillaume Feugray, Valéry Brunel, et al.
Hemoglobin|September 22, 2010
Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) β(+)-thalassemia mutation and the δ(0)β(+)-Senegalese deletionCéline Griffon, Philippe Joly, Agathe Sénéchal, et al.
Blood Cells, Molecules & Diseases|March 10, 2009
Identification and molecular characterization of four new large deletions in the beta-globin gene clusterPhilippe 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 analysisPhilippe Joly, Philippe Lacan, Caroline Garcia, et al.
European Journal of Haematology|September 14, 2011
The alpha-globin genotype does not influence sickle cell disease severity in a retrospective cross-validation study of the pediatric severity scorePhilippe Joly, Corinne Pondarré, Claire Bardel, 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.
Pageof 15