Giansily-Blaizot M - Search Results

1

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: giansily blaizot m. 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.

2

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. Aguilar-Martinez P, et al. Blood Cells Mol Dis. 2001 Jan-Feb;27(1):290-3. doi: 10.1006/bcmd.2001.0382. Blood Cells Mol Dis. 2001. PMID: 11358390

3

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

Giansily-Blaizot M, Aguilar-Martinez P, Schved JF. Giansily-Blaizot M, et al. Haematologica. 2002 Mar;87(3):328-9. Haematologica. 2002. PMID: 11869950

4

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.

5

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.

6

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

7

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

8

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

9

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: giansily blaizot m. Genes (Basel). 2022 Jan 12;13(1):132. doi: 10.3390/genes13010132. Genes (Basel). 2022. PMID: 35052472 Free PMC article.

10

A newly identified ferritin L-subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia.

Shagidov D, Guttmann-Raviv N, Cunat S, Frech L, Giansily-Blaizot M, Ghatpande N, Abelya G, Frank GA, Aguilar Martinez P, Meyron-Holtz EG. Shagidov D, et al. Among authors: giansily blaizot m. Am J Hematol. 2024 Jan;99(1):12-20. doi: 10.1002/ajh.27124. Epub 2023 Oct 23. Am J Hematol. 2024. PMID: 37867341

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