P. Joly

Y. Bertrand, I. Mollet, S. Goutelle, 2020, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Differential effects of adenylyl cyclase-protein kinase A cascade on shear-induced changes of sickle cell deformability.

Y. Bertrand, P. Joly, A. Hot, 2020, Clinical hemorheology and microcirculation.

Blood Rheology: Key Parameters, Impact on Blood Flow, Role in Sickle Cell Disease and Effects of Exercise

Y. Bertrand, P. Joly, P. Connes, 2019, Front. Physiol..

Impact of surface-area-to-volume ratio, internal viscosity and membrane viscoelasticity on red blood cell deformability measured in isotonic condition

M. Faivre, L. D. Da Costa, P. Joly, 2019, Scientific Reports.

Plasmapheresis may improve clinical condition in sickle cell disease through its effects on red blood cell rheology

P. Joly, S. Ballas, P. Connes, 2017, American journal of hematology.

Alpha‐thalassaemia promotes frequent vaso‐occlusive crises in children with sickle cell anaemia through haemorheological changes

V. Pialoux, Y. Bertrand, P. Joly, 2017, Pediatric blood & cancer.

Effect of Age on Blood Rheology in Sickle Cell Anaemia and Sickle Cell Haemoglobin C Disease: A Cross-Sectional Study

V. Pialoux, Y. Bertrand, P. Joly, 2016, PloS one.

A Particular SORL1 Micro-haplotype May Prevent Severe Liver Disease in a French Cohort of Alpha 1-Antitrypsin-deficient Children

P. Joly, A. Lachaux, M. Bouchecareilh, 2021, Journal of pediatric gastroenterology and nutrition.

A novel telomeric (~285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease

P. Joly, D. Sanlaville, A. Labalme, 2010, Haematologica.

Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas.

P. Joly, P. Aguilar-Martinez, A. Francina, 2013, Clinica chimica acta; international journal of clinical chemistry.

Identification and molecular characterization of four new large deletions in the beta-globin gene cluster.

P. Joly, A. Francina, P. Lacan, 2009, Blood cells, molecules & diseases.

UGT1A1 (TA)n genotype is not the major risk factor of cholelithiasis in sickle cell disease children

V. Pialoux, Y. Bertrand, P. Joly, 2017, European journal of haematology.

Priming With Red Blood Cells Allows Red Blood Cell Exchange for Sickle Cell Disease in Low-Weight Children

F. Bérard, Y. Bertrand, P. Joly, 2021, Frontiers in Medicine.

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

I. Zanella-Cléon, P. Joly, A. Francina, 2015, Hemoglobin.

Description of Three New a Variants and Four New b Variants: Hb

P. Joly, A. Francina, P. Lacan, 2015 .

Two New δ-Globin Gene Variants: Hb A2-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A2-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)]

P. Joly, A. Francina, P. Lacan, 2013, Hemoglobin.

A New Frameshift Mutation on the α2-Globin Gene Causing α+-Thalassemia: Codon 43 (TTC>–TC or TTC>T–C)

P. Joly, A. Francina, P. Lacan, 2012, Hemoglobin.

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]

P. Joly, A. Francina, P. Lacan, 2011, Hemoglobin.

[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies].

J. Elion, P. Joly, J. Rochette, 2010, Annales de Biologie Clinique.

Description of Two New α Variants: Hb Canuts [α85(F6)Asp→His (α1)] and Hb Ambroise Pare [α117(GH5)Phe→Ile (α2)]; Two New β Variants: Hb Beaujolais [β84(EF8)Thr→Asn] and Hb Monplaisir [β147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and One New δ Variant: Hb A2-North Africa [δ59(E3)L

I. Zanella-Cléon, P. Joly, M. Becchi, 2009, Hemoglobin.

Two New Gγ Chain Variants: Hb F-Saint-Etienne [Gγ79(EF3)Asp→His] and Hb F-Lyon [Gγ97(FG4)His→Arg]

C. Berger, P. Joly, A. Francina, 2008, Hemoglobin.

Two New α-Thalassemia Point Mutations that are Undetectable by Biochemical Techniques

B. Pégourié, P. Joly, A. Francina, 2008, Hemoglobin.

Combined and differential effects of alpha‐thalassemia and HbF‐quantitative trait loci in Senegalese hydroxyurea‐free children with sickle cell anemia

P. Joly, P. Connes, R. Diallo, 2019, Pediatric blood & cancer.

Automatic depletion with Spectra Optia allows a safe 16% reduction of red blood cell pack consumption in exchanged sickle cell anemia patients

Y. Bertrand, P. Joly, F. Cognasse, 2019, Transfusion.

Inflammatory and oxidative stress phenotypes in transgenic sickle cell mice.

V. Pialoux, S. Ofori-Acquah, P. Joly, 2016, Blood cells, molecules & diseases.

Impact of Trail Running Races on Blood Viscosity and Its Determinants: Effects of Distance

P. Robach, G. Millet, L. Féasson, 2020, International journal of molecular sciences.

Impact of COVID‐19 on red blood cell rheology

P. Joly, P. Connes, C. Renoux, 2021, British journal of haematology.

The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients.

P. Joly, A. Francina, C. Bardel, 2010, Blood cells, molecules & diseases.

Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Giannis Tzimas, Philippe Joly, Webb Miller, 2013, Nucleic Acids Res..

Nuclear DNA content and chromatin texture in multidrug‐resistant human leukemic cell lines

J. Dufer, P. Joly, A. Desplaces, 1995, International Journal of Cancer.

Association Between Nitric Oxide, Oxidative Stress, Eryptosis, Red Blood Cell Microparticles, and Vascular Function in Sickle Cell Anemia

Y. Bertrand, P. Joly, P. Connes, 2020, Frontiers in Immunology.

Variation and impact of polygenic hematologic traits in monogenic sickle cell disease

G. Lettre, A. Ashley-Koch, M. Telen, 2022, medRxiv.

HbF-promoting polymorphisms may specifically reduce the residual risk of cerebral vasculopathy in SCA children with alpha-thalassemia.

Y. Bertrand, P. Joly, P. Connes, 2020, Clinical hemorheology and microcirculation.

Clinical severity and blood rheology in patients with sickle cell anaemia and co‐existing autoimmune disease

Y. Bertrand, P. Joly, A. Hot, 2022, British journal of haematology.

Higher Daily Physical Activity Level Is Associated with Lower RBC Aggregation in Carotid Artery Disease Patients at High Risk of Stroke

P. Lermusiaux, V. Pialoux, Virginie Nicaise, 2017, Front. Physiol..

Response to “Unusual low sickle cell hemoglobin level” Haematologica. 2012;98(6):e64

P. Joly, 2013, Haematologica.

Genetic Background of β-Thalassemia in Northeast Algeria with Assessment of the Thalassemia Severity Score and Description of a new β0-Thalassemia Frameshift Mutation (HBB: c.374dup; p.Pro126Thrfs*15)

P. Joly, C. Renoux, A. Gouri, 2019, Hemoglobin.

Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Philippe Joly, Ross C. Hardison, George P. Patrinos, 2020, Nucleic Acids Res..

Comparisons of oxygen gradient ektacytometry parameters between sickle cell patients with or without α‐thalassaemia

V. Sheehan, Y. Bertrand, P. Joly, 2021, British journal of haematology.

Increased blood viscosity and red blood cell aggregation in patients with COVID‐19

Y. Bertrand, P. Joly, Y. Dargaud, 2021, American journal of hematology.

A late onset sickle cell disease reveals a mosaic segmental uniparental isodisomy of chromosome 11p15.

P. Joly, S. Giraudier, Jean‐Marc Costa, 2015, Blood cells, molecules & diseases.

Mechanical Signature of Red Blood Cells Flowing Out of a Microfluidic Constriction Is Impacted by Membrane Elasticity, Cell Surface-to-Volume Ratio and Diseases

M. Faivre, L. D. Da Costa, P. Joly, 2020, Frontiers in Physiology.

Impact of surface-area-to-volume ratio, internal viscosity and membrane viscoelasticity on red blood cell deformability measured in isotonic condition

M. Faivre, L. D. Da Costa, P. Joly, 2019, Scientific Reports.

Genotypic screening of the main opiate‐related polymorphisms in a cohort of 139 sickle cell disease patients

P. Joly, C. Pondarré, A. Francina, 2012, American journal of hematology.

Is Skeletal Muscle Dysfunction a Limiting Factor of Exercise Functional Capacity in Patients with Sickle Cell Disease?

Y. Bertrand, C. Hautier, P. Joly, 2021, Journal of clinical medicine.

Hb Charlieu [α106(G13)Leu→Pro (α1)]: A New Phenotypically Silent Hemoglobin Variant Associated with a Mild α-Thalassemia Phenotype

H. Wajcman, P. Joly, A. Francina, 2010, Hemoglobin.

Comparative effects of fagaronine, Adriamycin and aclacinomycin on K562 cell sensitivity to natural-killer-mediated lysis

J. Dufer, P. Joly, H. Benoist, 1989, Cancer Immunology, Immunotherapy.

Association of adriamycin‐induced resistance to NK‐mediated lysis with sialic acid level and immunological reactivity of transferrin receptors and glycophorin A

P. Joly, H. Benoist, Y. Carpentier, 1988, International journal of cancer.

Evaluation of agreement between hemoglobin A1c, fasting glucose, and fructosamine in Senegalese individuals with and without sickle-cell trait

V. Pialoux, P. Joly, A. Samb, 2019, PloS one.

Protein characterization by LC-MS/MS may be required for the DNA identification of a fusion hemoglobin: the example of Hb P-Nilotic.

I. Zanella-Cléon, P. Joly, A. Francina, 2012, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Impact of a submaximal mono-articular exercise on the skeletal muscle function of patients with sickle cell disease

Y. Bertrand, C. Hautier, P. Joly, 2021, European Journal of Applied Physiology.

Phenotype determination of hemoglobinopathies by mass spectrometry.

I. Zanella-Cléon, P. Joly, M. Becchi, 2009, Clinical biochemistry.

Strategy for Identification by Mass Spectrometry of a New Human Hemoglobin Variant with Two Mutations in Cis in the β-Globin Chain: Hb S-Clichy [β6(A3)Glu→Val; β8(A5)Lys→Thr]

I. Zanella-Cléon, H. Wajcman, P. Joly, 2009, Hemoglobin.

Eryptosis and hemorheological responses to maximal exercise in athletes: Comparison between running and cycling

M. Germain, P. Joly, P. Connes, 2018, Scandinavian journal of medicine & science in sports.

Alterations of growth fraction and DNA content in K562 cells by differentiating agents.

P. Joly, Y. Carpentier, B. Desoize, 1990, Cytometry.

Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screening

N. Garrec, F. Galactéros, P. Joly, 2020, Clinical chemistry and laboratory medicine.

Hyperthyroidism: acquired cause of an increase in haemoglobin A2 level.

P. Joly, J. Lesesve, J. Perrin, 2019, Annales de biologie clinique.

Increased Prevalence of Type 2 Diabetes–Related Complications in Combined Type 2 Diabetes and Sickle Cell Trait

V. Pialoux, P. Joly, A. Samb, 2018, Diabetes Care.

Sublingual Microcirculation Specificity of Sickle Cell Patients: Morphology of the Microvascular Bed, Blood Rheology, and Local Hemodynamics

M. Fenech, C. Hautier, P. Joly, 2023, International journal of molecular sciences.

Effects of a Maximal Exercise Followed by a Submaximal Exercise Performed in Normobaric Hypoxia (2500 m), on Blood Rheology, Red Blood Cell Senescence, and Coagulation in Well-Trained Cyclists

P. Joly, Y. Dargaud, P. Connes, 2023, Metabolites.

Oxygen gradient ektacytometry‐derived biomarkers are associated with vaso‐occlusive crises and correlate with treatment response in sickle cell disease

V. Sheehan, M. Bartels, P. Joly, 2020, American journal of hematology/oncology.

Piezo1 activation augments sickling propensity and the adhesive properties of sickle red blood cells in a calcium‐dependent manner

Y. Bertrand, S. Saad, P. Joly, 2023, British journal of haematology.

Determinants of the point of sickling measured by oxygen gradient ektacytometry in sickle cell anaemia

P. Joly, P. Connes, C. Renoux, 2022, British journal of haematology.

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

P. Fergelot, A. Gitler, H. Vignaud, 2017, PloS one.

Liver disease related to alpha1‐antitrypsin deficiency in French children: The DEFI‐ALPHA cohort

J. Dumortier, P. Joly, E. Jacquemin, 2019, Liver international : official journal of the International Association for the Study of the Liver.

Methodological aspects of oxygen gradient ektacytometry in sickle cell disease: Effects of sample storage on outcome parameters in distinct patient subgroups.

V. Sheehan, P. Joly, P. Connes, 2020, Clinical hemorheology and microcirculation.

Increased retention of functional mitochondria in mature sickle red blood cells is associated with increased sickling tendency, hemolysis and oxidative stress

D. Roussel, P. Joly, Y. Dargaud, 2023, Haematologica.

Drepa-Opia: A Pilot Study to Determine the Predictive Factors of Morphine Use and Consumption in Hospitalized Adult Patients with Sickle Cell Disease

P. Joly, A. Hot, K. Tazarourte, 2018, Hemoglobin.

[DEFI-ALPHA cohort and POLYGEN DEFI-ALPHA clinical research hospital programme. A study about clinical, biological and genetics factors associated with the occurrence and the evolution of hepatic complications in children with alpha-1 antitrypsin deficiency].

P. Joly, A. Lachaux, A. Francina, 2015, Revue des maladies respiratoires.

In Vitro Red Blood Cell Segregation in Sickle Cell Anemia

M. Abkarian, P. Joly, P. Connes, 2021, Frontiers in Physics.

Cross sectional study on prevalence of sickle cell alleles S and C among patients with mild malaria in Ivory Coast

P. Joly, R. Jambou, S. Assi, 2018, BMC Research Notes.

Impact of a 10 km running trial on eryptosis, red blood cell rheology, and electrophysiology in endurance trained athletes: a pilot study

M. Germain, P. Joly, P. Connes, 2019, European Journal of Applied Physiology.

Association of a glucose‐6‐phosphate deficiency and a Gilbert syndrome as risk factors for a severe choledocholithiasis in a 2‐month‐old male infant

P. Joly, A. Lachaux, A. Francina, 2012, Pediatric blood & cancer.

Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis

M. Carcao, B. Funalot, P. Joly, 2023, British journal of haematology.

Erratum. Increased Prevalence of Type 2 Diabetes–Related Complications in Combined Type 2 Diabetes and Sickle Cell Trait. Diabetes Care 2018;41:2595—2602

V. Pialoux, P. Joly, A. Samb, 2019, Diabetes Care.

[Screening for alpha1-antitrypsin deficiency using dried blood spot: Assessment of the first 20 months].

P. Joly, J. Mornex, F. Zerimech, 2020, Revue des maladies respiratoires.

Molecular and Cellular Analysis of a Novel HBA2 Mutation (HBA2: c.94A>G) Shows Activation of a Cryptic Splice Site and Generation of a Premature Termination Codon

P. Joly, R. Ghassemifar, J. Finlayson, 2014, Hemoglobin.

A New Intergenic α-Globin Deletion (α–αΔ125) Found in a Kabyle Population

P. Joly, J. Rochette, J. Vannier, 2016, Hemoglobin.

Rapid genotyping of two common G6PD variants, African (A-) and Mediterranean, by high-resolution melting analysis.

P. Joly, A. Francina, P. Lacan, 2010, Clinical biochemistry.

Methodological aspects of the oxygenscan in sickle cell disease: A need for standardization

V. Sheehan, P. Joly, P. Connes, 2019, American journal of hematology.

Blood rheological abnormalities in sickle cell anemia.

M. Abkarian, P. Joly, S. Ballas, 2018, Clinical hemorheology and microcirculation.

Vascular Pathophysiology of Sickle Cell Disease.

P. Joly, C. Renoux, E. Nader, 2023, Presse medicale.

Red blood cell senescence and vascular function in patients with hereditary spherocytosis with and without splenectomy

P. Joly, C. Renoux, G. Cannas, 2024, British journal of haematology.

Diagnostic approach to hemoglobins with high oxygen affinity: experience from France and Belgium and review of the literature.

P. Joly, P. Aguilar-Martinez, B. Gulbis, 2017, Annales de biologie clinique.

An Additional Case of Hb Saint Nazaire [β103(G5)Phe→Ile; HBB: c.310T>A] Leading to Moderate Erythrocytosis in a French Family

P. Joly, A. Lahary, V. Brunel, 2019, Hemoglobin.