Beauverd Y, Ianotto JC, Thaw KH, Sobas M, Sadjadian P, Curto-Garcia N, Shih LY, Devos T, Krochmalczyk D, Galli S, Bieniaszewska M, Seferynska I, McMullin MF, Armatys A, Spalek A, Waclaw J, Zdrenghea MT, Legros L, Girodon F, Lewandowski K, Bellosillo B, Samuelsson J, Abuin Blanco A, Cony-Makhoul P, Collins A, James C, Kusec R, Lauermannova M, Noya MS, Skowronek M, Szukalski L, Szmigielska-Kaplon A, Wondergem M, Dudchenko I, Gora-Tybor J, Laribi K, Kulikowska de Nałęcz A, Demory JL, Le Dû K, Zweegman S, Besses Raebel C, Skoda RC, Giraudier S, Griesshammer M, Kiladjian JJ, Harrison CN

Leukemia. 2025 03 12;:

Olympic Games: When the haematocrit does not fit, the athlete is not always a cheat.

Maaziz N, Martin L, Marchand A, Gardie B, Girodon F

J Intern Med. 2024 07 9;:

Benefit of phlebotomy and low-dose aspirin in the prevention of vascular events in patients with primary familial polycythemia on the island of New Caledonia.

Boulnois L, Robles M, Maaziz N, Aral B, Gauthier M, Duchene F, Goujart MA, Gardie B, Girodon F

Haematologica. 2024 03 28;:

CALR-mutated patients with low allele burden represent a specific subtype of essential thrombocythemia: A study on behalf of FIM and GBMHM.

Aubin L, Vilas Boas R, Daltro De Oliveira R, Le Brun V, Divoux M, Rey J, Mansier O, Ianotto JC, Pastoret C, Desmares A, Murati A, de Mas V, Tavitian S, Girodon F, Soret Dulphy J, Maslah N, Goncalves Monteiro V, Boyer F, Orvain C, Ranta D, Cayssials É, Le Clech L, Nicol C, Rottier C, Botin Lopez T, Castel B, Rispal P, Beziat G, Bescond C, Laribi K, Benajiba L, Ugo V, Lippert E, Cottin L, Luque Paz D

Am J Hematol. 2024 02 25;:

Role of red cell mass evaluation in myeloproliferative neoplasms with splanchnic vein thrombosis and normal hemoglobin value: a study of the France Intergroupe des Syndromes myeloprolifératifs.

Galtier J, Drevon L, Le Bris Y, Giraudier S, Wemeau M, Legros L, Paz DL, Girodon F, Kiladjian JJ, Mesguich C, Parrens M, Mediavilla C, Roy L, Guy A, Mansier O, Ianotto JC, James C

Haematologica. 2024 02 8;:

Carbon monoxide rebreathing method is a reliable test to evaluate the red cell mass in polycythaemia.

Maaziz N, Georges M, Basille D, Gallet M, Gardie B, Diouf M, Garçon L, Girodon F

Br J Haematol. 2023 12 3;:

Single-cell multi-omics identifies chronic inflammation as a driver of TP53-mutant leukemic evolution.

Rodriguez-Meira A, Norfo R, Wen S, Chédeville AL, Rahman H, O'Sullivan J, Wang G, Louka E, Kretzschmar WW, Paterson A, Brierley C, Martin JE, Demeule C, Bashton M, Sousos N, Moralli D, Subha Meem L, Carrelha J, Wu B, Hamblin A, Guermouche H, Pasquier F, Marzac C, Girodon F, Vainchenker W, Drummond M, Harrison C, Chapman JR, Plo I, Jacobsen SEW, Psaila B, Thongjuea S, Antony-Debré I, Mead AJ

Nat Genet. 2023 09 4;:

Characterization of genetic variants in the gene identified in a European collection of patients with erythrocytosis.

Delamare M, Le Roy A, Pacault M, Schmitt L, Garrec C, Maaziz N, Myllykoski M, Rimbert A, Karaghiannis V, Aral B, Catherwood M, Airaud F, Mansour-Hendili L, Hoogewijs D, Peroni E, Idriss S, Lesieur V, Caillaud A, Si-Tayeb K, Chariau C, Gaignerie A, Rab M, Haferlach T, Meggendorfer M, Bézieau S, Benetti A, Casadevall N, Hirsch P, Rose C, Wemeau M, Galacteros F, Cassinat B, Bellosillo B, Bento C, Van Wijk R, Petrides PE, Randi ML, McMullin MF, Koivunen P, Girodon F, Gardie B,

Haematologica. 2023 06 15;:

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

Maaziz N, Garrec C, Airaud F, Bobée V, Contentin N, Cayssials E, Rimbert A, Aral B, Bézieau S, Gardie B, Girodon F

Genes (Basel). 2023 05 11;14(5):

Heat-Shock Proteins in Leukemia and Lymphoma: Multitargets for Innovative Therapeutic Approaches.

Cabaud-Gibouin V, Durand M, Quéré R, Girodon F, Garrido C, Jego G

Cancers (Basel). 2023 02 3;15(3):

Comprehensive and functional studies for classification of genetic variants identified in patients with erythrocytosis.

Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, Delamare M, Rab M, Bézieau S, Cassinat B, Galacteros F, Gimenez-Roqueplo AP, Burnichon N, Cario H, Van Wijk R, Bento C, Girodon F, Hoogewijs D, Gardie B

Haematologica. 2023 01 26;:

Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.

van Dijk MJ, van Oirschot BA, Stam-Slob MC, Waanders E, van der Zwaag B, van Beers EJ, Jans JJM, van der Linden PW, Torregrosa Diaz JM, Gardie B, Girodon F, Schots R, Thielen N, van Wijk R

Br J Haematol. 2022 09 30;:

Inferring the initiation and development of myeloproliferative neoplasms.

Hermange G, Rakotonirainy A, Bentriou M, Tisserand A, El-Khoury M, Girodon F, Marzac C, Vainchenker W, Plo I, Cournède PH

Proc Natl Acad Sci U S A. 2022 09 13;119(37):e2120374119

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A

Am J Hum Genet. 2022 08 23;:

Real world study of children and young adults with myeloproliferative neoplasms identifying risks and unmet needs.

Sobas M, Kiladjian JJ, Beauverd Y, Curto-Garcia N, Sadjadian P, Shih LY, Devos T, Krochmalczyk D, Galli S, Bieniaszewska M, Seferynska I, McMullin MFF, Armatys A, Spalek A, Wącław J, Zdrenghea M, Legros L, Girodon F, Lewandowski K, Angona Figueras A, Samuelsson J, Abuin Blanco A, Cony-Makhoul P, Collins A, James C, Kusec R, Lauermannova M, Noya MS, Skowronek M, Szukalski L, Szmigielska-Kaplon A, Wondergem M, Dudchenko I, Góra-Tybor J, Laribi K, Kulikowska de Nałęcz A, Demory JL, Le Du K, Zweegman S, Besses C, Skoda RC, Giraudier S, Griesshammer M, Harrison CN, Ianotto JC

Blood Adv. 2022 07 8;:

Genetic Background of Polycythemia Vera.

Regimbeau M, Mary R, Hermetet F, Girodon F

Genes (Basel). 2022 Apr 2;13(4):

Importance of Sequencing , and Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin.

Filser M, Gardie B, Wemeau M, Aguilar-Martinez P, Giansily-Blaizot M, Girodon F

Genes (Basel). 2022 Jan 12;13(1):

Inferring the dynamic of mutated hematopoietic stem and progenitor cells induced by IFNα in myeloproliferative neoplasms.

Mosca M, Hermange G, Tisserand A, Noble RJ, Marzac C, Marty C, Le Sueur C, Campario H, Vertenoeil G, El-Khoury M, Catelain C, Rameau P, Gella C, Lenglet J, Casadevall N, Favier R, Solary E, Cassinat B, Kiladjian JJ, Constantinescu SN, Pasquier F, Hochberg ME, Raslova H, Villeval JJ, Girodon F, Vainchenker W, Cournède PH, Plo I

Blood. 2021 Aug 18;:

HSP90 inhibitor NVP-BEP800 affects stability of SRC kinases and growth of T-cell and B-cell acute lymphoblastic leukemias.

Mshaik R, Simonet J, Georgievski A, Jamal L, Bechoua S, Ballerini P, Bellaye PS, Mlamla Z, Pais de Barros JP, Geissler A, Francin PJ, Girodon F, Garrido C, Quéré R

Blood Cancer J. 2021 Mar 18;11(3):61

Genomic analysis of primary and secondary myelofibrosis redefines the prognostic impact of ASXL1 mutations: a FIM study.

Luque Paz D, Riou J, Verger E, Cassinat B, Chauveau A, Ianotto JC, Dupriez B, Boyer F, Renard M, Mansier O, Murati A, Rey J, Etienne G, Mansat-De Mas V, Tavitian S, Nibourel O, Girault S, Le Bris Y, Girodon F, Ranta D, Chomel JC, Cony-Makhoul P, Sujobert P, Robles M, Ben Abdelali R, Kosmider O, Cottin L, Roy L, Sloma I, Vacheret F, Wemeau M, Mossuz P, Slama B, Cussac V, Denis G, Walter-Petrich A, Burroni B, Jézéquel N, Giraudier S, Lippert E, Socié G, Kiladjian JJ, Ugo V

Blood Adv. 2021 Mar 9;5(5):1442-1451

Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis.

Filser M, Giansily-Blaizot M, Grenier M, Monedero Alonso D, Bouyer G, Peres L, Egée S, Aral B, Airaud F, Da Costa LM, Picard V, Cougoul P, Palach M, Bezieau S, Garrec C, Aguilar Martinez P, Gardie B, Girodon F

Blood. 2020 Nov 12;:

Heat Shock Proteins and PD-1/PD-L1 as Potential Therapeutic Targets in Myeloproliferative Neoplasms.

De Almeida S, Regimbeau M, Jego G, Garrido C, Girodon F, Hermetet F

Cancers (Basel). 2020 Sep 11;12(9):

Efficacy of lenalidomide in myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and an extreme platelet count.

Divoux M, Plocque A, Sevin M, Voillat L, Feugier P, Guerci-Bresler A, Girodon F, Broséus J

. 2020 Sep;8(9):1774-1780

Anti-Glucosylsphingosine Autoimmunity, JAK2V617F-Dependent Interleukin-1β and JAK2V617F-Independent Cytokines in Myeloproliferative Neoplasms.

Allain-Maillet S, Bosseboeuf A, Mennesson N, Bostoën M, Dufeu L, Choi EH, Cleyrat C, Mansier O, Lippert E, Le Bris Y, Gombert JM, Girodon F, Pettazzoni M, Bigot-Corbel E, Hermouet S

Cancers (Basel). 2020 Aug 28;12(9):

Long-term follow-up of JAK2 exon 12 polycythemia vera: a French Intergroup of Myeloproliferative Neoplasms (FIM) study.

Tondeur S, Paul F, Riou J, Mansier O, Ranta D, Le Clech L, Lippert E, Tavitian S, Chaoui D, Mercier M, De Renzis B, Cottin L, Cassinat B, Chrétien JM, Ianotto JC, Allangba O, Marzac C, Voillat L, Boyer F, Orvain C, Hunault-Berger M, Girodon F, Kiladjian JJ, Ugo V, Luque Paz D

Leukemia. 2020 Jul 21;:

Effect of Tc elution in vivo from red cells on red cell volumes measured using autologous Tc-labeled red cells: comparison with Cr method.

Gallet M, Drouet C, Girodon F, Nicolas A, Riedinger JM

Ann. Biol. Clin. (Paris). 2020 Jun 1;78(3):319-322

Can absolute polycythaemia be identified without measurement of the red cell mass?

Grenier M, Callegarin D, Nughe M, Gardie B, Riedinger JM, Girodon F

Br. J. Haematol.. 2020 May 19;:

Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Geay A, Aral B, Bourgeois V, Martin P, Airaud F, Garrec C, Bézieau S, Gardie B, Girodon F

Clin Case Rep. 2020 May;8(5):790-792

Low incidence of EPOR mutations in idiopathic erythrocytosis.

Filser M, Aral B, Airaud F, Chauveau A, Bruce A, Polfrit Y, Thiebaut A, Gauthier M, Le Maréchal C, Lippert E, Béziau S, Garrec C, Gardie B, Girodon F

Haematologica. 2020 Mar 12;:

[A new case of rare erythrocytosis due to EGLN1 mutation with review of the literature].

Bonnin A, Gardie B, Girodon F, Airaud F, Garrec C, Bézieau S, Vignon G, Mottaz P, Labrousse J, Lellouche F

Rev Med Interne. 2020 Jan 21;:

Chaperoning STAT3/5 by Heat Shock Proteins: Interest of Their Targeting in Cancer Therapy.

Jego G, Hermetet F, Girodon F, Garrido C

Cancers (Basel). 2019 Dec 19;12(1):

Impact of interferon on a triple positive polycythemia vera.

Campario H, Mosca M, Aral B, Bourgeois V, Martin P, Brustel A, Filser M, Marzac C, Plo I, Girodon F

Leukemia. 2019 Nov 14;:

Splanchnic Vein Thromboses associated with Myeloproliferative Neoplasms: an international, retrospective study on 518 cases.

Sant'Antonio E, Guglielmelli P, Pieri L, Primignani M, Randi ML, Santarossa C, Rumi E, Cervantes F, Delaini F, Carobbio A, Betti S, Rossi E, Lavi N, Harrison CN, Curto-Garcia N, Gisslinger H, Gisslinger B, Specchia G, Ricco A, Vianelli N, Polverelli N, Koren-Michowitz M, Ruggeri M, Girodon F, Ellis M, Iurlo A, Mannelli F, Mannelli L, Sordi B, Loscocco GG, Cazzola M, De Stefano V, Barbui T, Tefferi A, Vannucchi AM

Am. J. Hematol.. 2019 Nov 12;:

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.

Duplomb L, Rivière J, Jego G, Da Costa R, Hammann A, Racine J, Schmitt A, Droin N, Capron C, Gougerot-Pocidalo MA, Dubrez L, Aral B, Lafon A, Edery P, Ghoumid J, Blair E, El Chehadeh-Djebbar S, Carmignac V, Thevenon J, Guy J, Girodon F, Bastie JN, Delva L, Faivre L, Thauvin-Robinet C, Solary E

J. Mol. Med.. 2019 Mar 7;:

Value of combined spherocytose osmotic and EMA tests in the diagnosis of hereditary spherocytosis.

Cheli E, Roze J, Daouairi N, Racine J, Guy J, Ghazal K, Picard V, Girodon F

Int J Lab Hematol. 2019 Feb 7;:

International external quality assurance of JAK2 V617F quantification.

Asp J, Skov V, Bellosillo B, Kristensen T, Lippert E, Dicker F, Schwarz J, Wojtaszewska M, Palmqvist L, Akiki S, Aggerholm A, Tolstrup Andersen M, Girodon F, Kjær L, Oppliger Leibundgut E, Pancrazzi A, Vorland M, Andrikovics H, Kralovics R, Cassinat B, Coucelo M, Eftimov A, Haslam K, Kusec R, Link-Lenczowska D, Lodé L, Matiakowska K, Naguib D, Navaglia F, Novotny GW, Percy MJ, Sudarikov A, Hermouet S, Pallisgaard N

Ann. Hematol.. 2018 Dec 8;:

High HFE mutation incidence in idiopathic erythrocytosis.

Burlet B, Bourgeois V, Buriller C, Aral B, Airaud F, Garrec C, Bézieau S, Gardie B, Girodon F

Br. J. Haematol.. 2018 Nov 8;:

Identification of a new exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B

Blood. 2018 Aug 2;132(5):469-483

Germline L611S mutation in a child with thrombocytosis.

Aral B, Courtois M, Ragot S, Bourgeois V, Bottolier-Lemallaz E, Briandet C, Girodon F

Haematologica. 2018 Aug;103(8):e372-e373

HSP27 is a partner of JAK2-STAT5 and a potential therapeutic target in myelofibrosis.

Sevin M, Kubovcakova L, Pernet N, Causse S, Vitte F, Villeval JL, Lacout C, Cordonnier M, Rodrigues-Lima F, Chanteloup G, Mosca M, Chrétien ML, Bastie JN, Audia S, Sagot P, Ramla S, Martin L, Gleave M, Mezger V, Skoda R, Plo I, Garrido C, Girodon F, de Thonel A

Nat Commun. 2018 Apr 12;9(1):1431

Absence of CALR Mutations in Idiopathic Erythrocytosis Patients with Low Serum Erythropoietin Levels.

Catherwood MA, Graham A, Cuthbert RJG, Garrec C, Gardie B, Girodon F, Laird S, Cross NCP, McMullin MF

Acta Haematol.. 2018 ;139(4):217-219

Monoclonal IgG in MGUS and multiple myeloma targets infectious pathogens.

Bosseboeuf A, Feron D, Tallet A, Rossi C, Charlier C, Garderet L, Caillot D, Moreau P, Cardó-Vila M, Pasqualini R, Arap W, Nelson AD, Wilson BS, Perreault H, Piver E, Weigel P, Girodon F, Harb J, Bigot-Corbel E, Hermouet S

JCI Insight. 2017 Oct;2(19):

Usefulness of the EMA flow cytometric test in the diagnosis of hereditary spherocytosis post-transfusion.

Cheli E, Roze J, Garrot T, Tagarist S, Briandet C, Girodon F

Br. J. Haematol.. 2017 07;178(2):180

A retrospective analysis of the impact of treatments and blood counts on survival and the risk of vascular events during the course of polycythaemia vera.

Enblom-Larsson A, Girodon F, Bak M, Hersby D, Jooste V, Hasselbalch H, Johansson P, Andreasson B

Br. J. Haematol.. 2017 May;:

Gene panel sequencing in idiopathic erythrocytosis.

Girodon F, Airaud F, Garrec C, Bézieau S, Gardie B

Haematologica. 2017 01;102(1):e30

Pro-inflammatory State in Monoclonal Gammopathy of Undetermined Significance and in Multiple Myeloma Is Characterized by Low Sialylation of Pathogen-Specific and Other Monoclonal Immunoglobulins.

Bosseboeuf A, Allain-Maillet S, Mennesson N, Tallet A, Rossi C, Garderet L, Caillot D, Moreau P, Piver E, Girodon F, Perreault H, Brouard S, Nicot A, Bigot-Corbel E, Hermouet S, Harb J

Front Immunol. 2017 ;8:1347

Are Myeloproliferative neoplasms a risk factor for Heparin-Induced Thrombocytopenia?

Bovet J, De Maistre E, Bejot Y, Girodon F

Br. J. Haematol.. 2016 11;175(3):537-539

[Calreticulin mutations, a new diagnostic tool for the myeloproliferative disorders].

Legros L, Girodon F, Lanotto JC, Rey J, Ugo V,

Rev Med Interne. 2015 Dec;36(12):791-3

Outcomes of pregnancy in patients with congenital erythrocytosis.

McMullin MF, Bento C, Rossi C, Rainey MG, Girodon F, Cario H

Br. J. Haematol.. 2015 Aug;170(4):586-8

High rate of abnormal blood values and vascular complications before diagnosis of myeloproliferative neoplasms.

Enblom A, Lindskog E, Hasselbalch H, Hersby D, Bak M, Tetu J, Girodon F, Andréasson B

Eur. J. Intern. Med.. 2015 Jun;26(5):344-7

Endogenous megakaryocytic colonies underline association between megakaryocytes and calreticulin mutations in essential thrombocythemia.

Mondet J, Park JH, Menard A, Marzac C, Carillo S, Pourcelot E, Girodon F, Cabagnols X, Lodé L, Socoro N, Chauvet M, Bulabois CE, Cony-Makhoul P, Corm S, Cahn JY, Mossuz P

Haematologica. 2015 May;100(5):e176-8

Differential association of calreticulin type 1 and type 2 mutations with myelofibrosis and essential thrombocytemia: relevance for disease evolution.

Cabagnols X, Defour JP, Ugo V, Ianotto JC, Mossuz P, Mondet J, Girodon F, Alexandre JH, Mansier O, Viallard JF, Lippert E, Murati A, Mozziconacci MJ, Saussoy P, Vekemans MC, Knoops L, Pasquier F, Ribrag V, Solary E, Plo I, Constantinescu SN, Casadevall N, Vainchenker W, Marzac C, Bluteau O

Leukemia. 2015 Jan;29(1):249-52

Presence of calreticulin mutations in JAK2-negative polycythemia vera.

Broséus J, Park JH, Carillo S, Hermouet S, Girodon F

Blood. 2014 Dec;124(26):3964-6

Dual regulation of SPI1/PU.1 transcription factor by heat shock factor 1 (HSF1) during macrophage differentiation of monocytes.

Jego G, Lanneau D, De Thonel A, Berthenet K, Hazoumé A, Droin N, Hamman A, Girodon F, Bellaye PS, Wettstein G, Jacquel A, Duplomb L, Le Mouël A, Papanayotou C, Christians E, Bonniaud P, Lallemand-Mezger V, Solary E, Garrido C

Leukemia. 2014 Aug;28(8):1676-86

Genetic basis of congenital erythrocytosis: mutation update and online databases.

Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro ML, McMullin MF, Cario H, ,Chauveau A, Gimenez-Roqueplo AP, Bressac-de-Paillerets B, Altindirek D, Lorenzo F, Lambert F, Dan H, Gad-Lapiteau S, Catarina Oliveira A, Rossi C, Fraga C, Taradin G, Martin-Nuñez G, Vitória H, Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques da Costa R, Beshara S, Ben-Ami T, Ugo V,

Hum. Mutat.. 2014 Jan;35(1):15-26

Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

Bento C, Almeida H, Maia TM, Relvas L, Oliveira AC, Rossi C, Girodon F, Fernandez-Lago C, Aguado-Diaz A, Fraga C, Costa RM, Araújo AL, Silva J, Vitória H, Miguel N, Silveira MP, Martin-Nuñez G, Ribeiro ML

Eur. J. Haematol.. 2013 Oct;91(4):361-8