Aguilar-Martinez P - Search Results

1

Importance of Sequencing HBA1, HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin.

Filser M, Gardie B, Wemeau M, Aguilar-Martinez P, Giansily-Blaizot M, Girodon F. Filser M, et al. Among authors: aguilar martinez p. Genes (Basel). 2022 Jan 12;13(1):132. doi: 10.3390/genes13010132. Genes (Basel). 2022. PMID: 35052472 Free PMC article.

2

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

Filser M, Giansily-Blaizot M, Grenier M, Monedero Alonso D, Bouyer G, Pérès L, Egée S, Aral B, Airaud F, Da Costa L, Picard V, Cougoul P, Palach M, Béziau S, Garrec C, Aguilar-Martinez P, Gardie B, Girodon F. Filser M, et al. Among authors: aguilar martinez p. Blood. 2021 Apr 1;137(13):1828-1832. doi: 10.1182/blood.2020008424. Blood. 2021. PMID: 33181827 Free article. No abstract available.

3

The Importance of Characterizing the Hemoglobin Instability of New Variants: The Case of Hb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C].

Mondesert E, Giansily Blaizot M, Tournilhac O, Sapin AFS, Aubin B, Pellequer JL, Aguilar Martinez P. Mondesert E, et al. Hemoglobin. 2020 Jan;44(1):13-16. doi: 10.1080/03630269.2020.1721021. Epub 2020 Feb 3. Hemoglobin. 2020. PMID: 32008383

4

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. Orvain C, et al. Eur J Haematol. 2018 Oct;101(4):566-569. doi: 10.1111/ejh.13135. Epub 2018 Aug 31. Eur J Haematol. 2018. PMID: 29969830

5

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. Funakoshi N, et al. Liver Int. 2016 May;36(5):746-54. doi: 10.1111/liv.12984. Epub 2015 Nov 7. Liver Int. 2016. PMID: 26474245

6

Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families.

Szepetowski S, Berger C, Joly P, Baron-Joly S, Huguenin Y, Cantais A, Brun S, Ged C, Badens C, Thuret I, Giansily-Blaizot M, Pissard S, Aguilar-Martinez P. Szepetowski S, et al. Among authors: aguilar martinez p. Am J Hematol. 2022 Nov;97(11):E393-E395. doi: 10.1002/ajh.26687. Epub 2022 Sep 2. Am J Hematol. 2022. PMID: 36052950 Free article. No abstract available.

7

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. Cunat S, et al. Clin Chem. 2007 Dec;53(12):2060-9. doi: 10.1373/clinchem.2007.090605. Epub 2007 Oct 19. Clin Chem. 2007. PMID: 17951290

8

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. Aguilar-Martinez P, et al. Am J Hematol. 2007 Dec;82(12):1088-90. doi: 10.1002/ajh.21000. Am J Hematol. 2007. PMID: 17665502 Free article.

9

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. Giansily-Blaizot M, et al. Blood Coagul Fibrinolysis. 2003 Feb;14(2):217-20. doi: 10.1097/00001721-200302000-00016. Blood Coagul Fibrinolysis. 2003. PMID: 12632035 Review.

10

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. Aguilar-Martinez P, et al. Haematologica. 2010 Apr;95(4):551-6. doi: 10.3324/haematol.2009.014431. Epub 2010 Feb 9. Haematologica. 2010. PMID: 20145272 Free PMC article.

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