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Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.

Picard V, Guitton C, Thuret I, Rose C, Bendelac L, Ghazal K, Aguilar-Martinez P, Badens C, Barro C, Bénéteau C, Berger C, Cathébras P, Deconinck E, Delaunay J, Durand JM, Firah N, Galactéros F, Godeau B, Jaïs X, de Jaureguiberry JP, Le Stradic C, Lifermann F, Maffre R, Morin G, Perrin J, Proulle V, Ruivard M, Toutain F, Lahary A, Garçon L.

Haematologica. 2019 Aug;104(8):1554-1564. doi: 10.3324/haematol.2018.205328. Epub 2019 Jan 17.


Hepcidin: immunoanalytic characteristics.

Wolff F, de Verneuil H, Rucheton B, Lefebvre T, Vialaret J, Ropert-Bouchet M, Cunat S, Aguilar-Martinez P, Lehmann S, Delaby C.

Ann Biol Clin (Paris). 2018 Dec 1;76(6):705-715. doi: 10.1684/abc.2018.1382. Review.


Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.

Orvain C, Da Costa L, Van Wijk R, Pissard S, Picard V, Mansour-Hendili L, Cunat S, Giansily-Blaizot M, Cartron G, Schved JF, Aguilar-Martinez P.

Eur J Haematol. 2018 Oct;101(4):566-569. doi: 10.1111/ejh.13135. Epub 2018 Aug 31.


Added value of hepcidin quantification for the diagnosis and follow-up of anemia-related diseases.

Lefebvre T, Lasocki S, Fénéant-Thibault M, Lamy PJ, Cunat S, Ropert-Bouchet M, Aguilar-Martinez P, Lehmann S, Delaby C.

Ann Biol Clin (Paris). 2017 Feb 1;75(1):9-18. doi: 10.1684/abc.2016.1208. Review.


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

Orvain C, Joly P, Pissard S, Badiou S, Badens C, Bonello-Palot N, Couque N, Gulbis B, Aguilar-Martinez P.

Ann Biol Clin (Paris). 2017 Feb 1;75(1):39-51. doi: 10.1684/abc.2016.1204. Review.


The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.

Funakoshi N, Chaze I, Alary AS, Tachon G, Cunat S, Giansily-Blaizot M, Bismuth M, Larrey D, Pageaux GP, Schved JF, Donnadieu-Rigole H, Blanc P, Aguilar-Martinez P.

Liver Int. 2016 May;36(5):746-54. doi: 10.1111/liv.12984. Epub 2015 Nov 7.


Further support for the association of GNPAT variant rs11558492 with severe iron overload in hemochromatosis.

Besson-Fournier C, Martinez M, Vinel JP, Aguilar-Martinez P, Coppin H, Roth MP.

Hepatology. 2016 Jun;63(6):2054-5. doi: 10.1002/hep.28259. Epub 2015 Oct 30. No abstract available.


Differing impact of the deletion of hemochromatosis-associated molecules HFE and transferrin receptor-2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin.

Latour C, Besson-Fournier C, Meynard D, Silvestri L, Gourbeyre O, Aguilar-Martinez P, Schmidt PJ, Fleming MD, Roth MP, Coppin H.

Hepatology. 2016 Jan;63(1):126-37. doi: 10.1002/hep.28254. Epub 2015 Nov 12.


[Carriers of haemophilia: Experience of a French university hospital].

Sauguet P, Aguilar-Martinez P, Boulot P, Escudié JB, Schved JF, Biron-Andréani C.

J Gynecol Obstet Biol Reprod (Paris). 2015 Jun;44(6):565-76. doi: 10.1016/j.jgyn.2014.08.009. Epub 2014 Sep 26. French.


Haemoglobinopathies in Europe: health & migration policy perspectives.

Aguilar Martinez P, Angastiniotis M, Eleftheriou A, Gulbis B, Mañú Pereira Mdel M, Petrova-Benedict R, Corrons JL.

Orphanet J Rare Dis. 2014 Jul 1;9:97. doi: 10.1186/1750-1172-9-97.


Comparison of Arkray/ELITech ADAMS HA-8180V with Bio-Rad Variant, II Turbo2.0 and Tosoh Bioscience HLC-723G8 for HbA1c determination.

Badiou S, Guillot J, Kuster N, Bargnoux AS, Aguilar-Martinez P, Boissier E, Cristol JP, Dupuy AM.

J Clin Lab Anal. 2014 Nov;28(6):428-34. doi: 10.1002/jcla.21705. Epub 2014 Mar 20.


Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency.

Borhany M, Boijout H, Pellequer JL, Shamsi T, Moulis G, Aguilar-Martinez P, Schved JF, Giansily-Blaizot M.

Haemophilia. 2013 Nov;19(6):893-7. doi: 10.1111/hae.12186. Epub 2013 Jun 4.


Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations.

Bardou-Jacquet E, Cunat S, Beaumont-Epinette MP, Kannengiesser C, Causse X, Sauvion S, Pouliquen B, Deugnier Y, David V, Loréal O, Aguilar-Martinez P, Brissot P, Jouanolle AM.

Br J Haematol. 2013 Jul;162(2):278-81. doi: 10.1111/bjh.12350. Epub 2013 Apr 18. No abstract available.


Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.

Giansily-Blaizot M, Cunat S, Moulis G, Schved JF, Aguilar-Martinez P.

Haematologica. 2013 Apr;98(4):e42-3. doi: 10.3324/haematol.2012.077198. Epub 2013 Jan 8. No abstract available.


Porphyria cutanea tarda and spherocytosis: a non-random association?

Du-Thanh A, Aguilar-Martinez P, Enescu C, Cunat S, Guillot B, Dereure O.

Acta Derm Venereol. 2013 May;93(3):377-8. doi: 10.2340/00015555-1493. No abstract available.


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

Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P.

Clin Chim Acta. 2013 Jan 16;415:35-40. doi: 10.1016/j.cca.2012.08.030. Epub 2012 Sep 7.


Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.

Guillem F, Kannengiesser C, Oudin C, Lenoir A, Matak P, Donadieu J, Isidor B, Méchinaud F, Aguilar-Martinez P, Beaumont C, Vaulont S, Grandchamp B, Nicolas G.

Hum Mutat. 2012 Sep;33(9):1388-96. doi: 10.1002/humu.22116. Epub 2012 May 30.


[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].

Jouanolle AM, Gérolami V, Ged C, Grandchamp B, Le Gac G, Pissard S, Rochette J, Aguilar-Martinez P.

Ann Biol Clin (Paris). 2012 May-Jun;70(3):305-13. doi: 10.1684/abc.2012.0704. French.


Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.

Flatt JF, Guizouarn H, Burton NM, Borgese F, Tomlinson RJ, Forsyth RJ, Baldwin SA, Levinson BE, Quittet P, Aguilar-Martinez P, Delaunay J, Stewart GW, Bruce LJ.

Blood. 2011 Nov 10;118(19):5267-77. doi: 10.1182/blood-2010-12-326645. Epub 2011 Jul 26.


Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Aguilar-Martinez P, Grandchamp B, Cunat S, Cadet E, Blanc F, Nourrit M, Lassoued K, Schved JF, Rochette J.

Haematologica. 2011 Apr;96(4):507-14. doi: 10.3324/haematol.2010.029751. Epub 2011 Jan 12.


Hemojuvelin and hepcidin gene mutations in patients with porphyria cutanea tarda from Southern France.

Du Thanh A, Aguilar-Martinez P, Cunat S, Bessis D, Guillot B, Dereure O.

Acta Derm Venereol. 2011 Jan;91(1):66-7. doi: 10.2340/00015555-0853. No abstract available.


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

Aguilar-Martinez P, Badens C, Bonello-Palot N, Cadet E, Couque N, Ducrocq R, Elion J, Francina A, Joly P, Pissard S, Rochette J; Réseay DHOS Pathologie héréditaire de l'érythrocyte.

Ann Biol Clin (Paris). 2010 Jul-Aug;68(4):455-64. doi: 10.1684/abc.2010.0457. French.


The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.

Aguilar-Martinez P, Bismuth M, Blanc F, Blanc P, Cunat S, Dereure O, Dujols P, Giansily-Blaizot M, Jorgensen C, Konate A, Larrey D, Le Quellec A, Mura T, Raingeard I, Ramos J, Renard E, Rousseau F, Schved JF, Picot MC.

Haematologica. 2010 Apr;95(4):551-6. doi: 10.3324/haematol.2009.014431. Epub 2010 Feb 9.


HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.

Aguilar-Martinez P, Giansily-Blaizot M, Bismuth M, Cunat S, Igual H, Schved JF.

Haematologica. 2010 Apr;95(4):687-8. doi: 10.3324/haematol.2009.018028. Epub 2009 Dec 8. No abstract available.


Global sequencing approach for characterizing the molecular background of hereditary iron disorders.

Cunat S, Giansily-Blaizot M, Bismuth M, Blanc F, Dereure O, Larrey D, Quellec AL, Pouderoux P, Rose C, Raingeard I, Renard E, Schved JF, Aguilar-Martinez P; CHU Montpellier AOI 2004 Working Group.

Clin Chem. 2007 Dec;53(12):2060-9. Epub 2007 Oct 19.


[Hemochromatosis, a public health problem].

Aguilar Martinez P.

Soins. 2007 Jun;(716):34-5. French. No abstract available.


A novel mutation of the beta-globin gene promoter (-102 C>A) and pitfalls in family screening.

Aguilar-Martinez P, Jourdan E, Brun S, Cunat S, Giansily-Blaizot M, Pissard S, Schved JF.

Am J Hematol. 2007 Dec;82(12):1088-90.


[Non-HFE-related hereditary iron overload].

Aguilar-Martinez P.

Presse Med. 2007 Sep;36(9 Pt 2):1279-91. Epub 2007 May 30. Review. French.


Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.

Aguilar-Martinez P, Lok CY, Cunat S, Cadet E, Robson K, Rochette J.

Haematologica. 2007 Mar;92(3):421-2.


The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities.

Aguilar-Martinez P, Schved JF, Brissot P.

Am J Gastroenterol. 2005 May;100(5):1185-94. Review.


Analysis of remnant reticulocyte mRNA reveals new genes and antisense transcripts expressed in the human erythroid lineage.

Bonafoux B, Lejeune M, Piquemal D, Quéré R, Baudet A, Assaf L, Marti J, Aguilar-Martinez P, Commes T.

Haematologica. 2004 Dec;89(12):1434-8.


No significant association between CYP1A2 polymorphism and porphyria cutanea tarda.

Dereure O, Aguilar-Martinez P, Bessis D, Blanc F, Larrey D, Guillot B, Schved JF, Guilhou JJ.

Acta Derm Venereol. 2004;84(3):254-5. No abstract available.


Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene.

Matthes T, Aguilar-Martinez P, Pizzi-Bosman L, Darbellay R, Rubbia-Brandt L, Giostra E, Michel M, Ganz T, Beris P.

Blood. 2004 Oct 1;104(7):2181-3. Epub 2004 Jun 15.


Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.

Fricke B, Jarvis HG, Reid CD, Aguilar-Martinez P, Robert A, Quittet P, Chetty M, Pizzey A, Cynober T, Lande WF, Mentzer WC, Düring M, Winter S, Delaunay J, Stewart GW.

Br J Haematol. 2004 Jun;125(6):796-803.


[Hereditary haemochromatosis].

Bismuth M, Aguilar-Martinez P, Michel H.

Presse Med. 2003 Nov 8;32(36):1716-23. Review. French.


Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop).

Giansily-Blaizot M, Aguilar-Martinez P, Briquel ME, d'Oiron R, De Maistre E, Epelbaum S, Schved JF.

Blood Coagul Fibrinolysis. 2003 Feb;14(2):217-20. Review.


No evidence of Y250X transferrin receptor type 2 mutation in patients with porphyria cutanea tarda. A study of 38 cases.

Dereure O, Esculier C, Aguilar-Martinez P, Dessis D, Guillot B, Guilhou JJ.

Dermatology. 2002;204(2):158-9. No abstract available.


Inherited factor VII deficiency and surgery: clinical data are the best criteria to predict the risk of bleeding.

Giansily-Blaizot M, Biron-Andreani C, Aguilar-Martinez P, de Moeloose P, Briquel ME, Goudemand J, Stieltjes N, Barrot C, Chambost H, Durin A, Gay V, Peynet J, Pouymayou K, Schved JF.

Br J Haematol. 2002 Apr;117(1):172-5.


Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency.

Giansily-Blaizot M, Aguilar-Martinez P, Schved JF.

Haematologica. 2002 Mar;87(3):328-9.


Prevalence of HFE mutations in people from North Africa living in southern France.

Aguilar-Martinez P, Picot MC, Becker F, Boulot P, Montoya F, Mares P, Bachelard B, Henry Y, Delarbre JL, Sarda P, Schved JF.

Br J Haematol. 2001 Sep;114(4):914-6.


Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

Aguilar-Martinez P, Bismuth M, Picot MC, Thelcide C, Pageaux GP, Blanc F, Blanc P, Schved JF, Larrey D.

Gut. 2001 Jun;48(6):836-42.


Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis.

Aguilar-Martinez P, Esculié-Coste C, Bismuth M, Giansily-Blaizot M, Larrey D, Schved JF.

Blood Cells Mol Dis. 2001 Jan-Feb;27(1):290-3.


Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency.

Giansily-Blaizot M, Aguilar-Martinez P, Biron-Andreani C, Jeanjean P, Igual H, Schved JF; Study Group of Factor Seven Deficiency.

Eur J Hum Genet. 2001 Feb;9(2):105-12.


HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France.

Dereure O, Aguilar-Martinez P, Bessis D, Perney P, Vallat C, Guillot B, Blanc F, Guilhou JJ.

Br J Dermatol. 2001 Mar;144(3):533-9.


Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis.

Giansily-Blaizot M, Aguilar-Martinez P, Mazurier C, Cneude F, Goudemand J, Schved JF, de Martinville B.

Br J Haematol. 2001 Jan;112(1):251-2. No abstract available.


Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome.

Giansily M, Beaumont C, Desveaux C, Hetet G, Schved JF, Aguilar-Martinez P.

Br J Haematol. 2001 Jan;112(1):51-4.


Iron overload in thalassaemias and genetic haemochromatosis.

Aguilar-Martinez P, Schved JF, Badens C, Thuret I, Michel G, Neonato MG, Peltier JY, Girot R, Pissard S, Galacteros F, Bachir D, Rose C, Picot MC, Denamur E, Elion J.

Eur J Haematol. 2000 Apr;64(4):279-80. No abstract available.


Haplotype analysis of the HFE gene: implications for the origins of hemochromatosis related mutations.

Aguilar-Martinez P, Thelcide C, Jeanjean P, Masmejean C, Giansily M, Schved JF.

Blood Cells Mol Dis. 1999 Jun-Aug;25(3-4):166-9. No abstract available.


Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts.

Maugard C, Tuffery S, Aguilar-Martinez P, Schved JF, Gris JC, Demaille J, Claustres M.

Hum Mutat. 1998;11(1):18-22. No abstract available.


Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease?

Aguilar Martinez P, Biron C, Blanc F, Masmejean C, Jeanjean P, Michel H, Schved JF.

Blood Cells Mol Dis. 1997 Aug;23(2):269-76.


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