Aguilar-Martinez P - Search Results

1

Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.

Aguilar-Martinez P, Romey MC, Schved JF, Gris JC, Demaille J, Claustres M. Aguilar-Martinez P, et al. Hum Genet. 1994 Sep;94(3):287-90. doi: 10.1007/BF00208285. Hum Genet. 1994. PMID: 8076946

2

Direct carrier detection for severe haemophilia A: application to families with no available affected male.

Maugard C, Aguilar-Martinez P, Schved JF, Biron C, Gris JC, Demaille J, Claustres M. Maugard C, et al. Genet Couns. 1995;6(2):109-12. Genet Couns. 1995. PMID: 7546452

3

DNA analysis of haemophilia A families from southern France. Experience of a hospital laboratory.

Aguilar-Martinez P, Fabre N, Navarro R, Schved JF, Gris JC, Romey MC, Demaille J, Claustres M. Aguilar-Martinez P, et al. Genet Couns. 1993;4(4):311-9. Genet Couns. 1993. PMID: 7906519

4

A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.

Aguilar-Martinez P, Romey MC, Gris JC, Schved JF, Demaille J, Claustres M. Aguilar-Martinez P, et al. Hum Mutat. 1994;3(2):156-8. doi: 10.1002/humu.1380030211. Hum Mutat. 1994. PMID: 8199596 No abstract available.

5

Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis.

Romey MC, Aguilar-Martinez P, Demaille J, Claustres M. Romey MC, et al. Hum Genet. 1993 Dec;92(6):627-8. doi: 10.1007/BF00420951. Hum Genet. 1993. PMID: 8262525

6

Comparison of the protein and DNA approaches for the characterization of a beta-globin chain variant, hemoglobin Cocody [beta 21 (B3) Asp--->Asn], in a Caucasian patient.

Aguilar-Martinez P, Galacteros F, Schved JF, Blouquit Y, Gris JC, Demaille J, Claustres M. Aguilar-Martinez P, et al. Ann Hematol. 1993 May;66(5):269-72. doi: 10.1007/BF01738480. Ann Hematol. 1993. PMID: 8507722

7

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. Maugard C, et al. Hum Mutat. 1998;11(1):18-22. doi: 10.1002/(SICI)1098-1004(1998)11:1<18::AID-HUMU3>3.0.CO;2-H. Hum Mutat. 1998. PMID: 9450898 No abstract available.

8

Diagnosis strategies in activated protein C resistance: is genotyping still necessary?

Biron C, Lamarti H, Schved JF, Jeanjean P, Masmejean C, Claustres M, Aguilar-Martinez P. Biron C, et al. Clin Lab Haematol. 1997 Mar;19(1):67-71. doi: 10.1046/j.1365-2257.1997.00209.x. Clin Lab Haematol. 1997. PMID: 9146951

9

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. Giansily M, et al. Br J Haematol. 2001 Jan;112(1):51-4. doi: 10.1046/j.1365-2141.2001.02513.x. Br J Haematol. 2001. PMID: 11167783 Free article.

10

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. Giansily-Blaizot M, et al. Eur J Hum Genet. 2001 Feb;9(2):105-12. doi: 10.1038/sj.ejhg.5200593. Eur J Hum Genet. 2001. PMID: 11313743

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