Gandrille S - Search Results

1

Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency.

Pintao MC, Garcia AA, Borgel D, Alhenc-Gelas M, Spek CA, de Visser MC, Gandrille S, Reitsma PH. Pintao MC, et al. Among authors: gandrille s. Hum Genet. 2009 Sep;126(3):449-56. doi: 10.1007/s00439-009-0687-9. Epub 2009 May 23. Hum Genet. 2009. PMID: 19466456 Free PMC article.

2

Novel human pathological mutations. Gene symbol: PROS1. Disease: Protein S deficiency.

Pintao M, Garcia AA, Borgel D, Alhenc-Gelas M, Spek CA, de Visser MC, Gandrille S, Reitsma PH. Pintao M, et al. Among authors: gandrille s. Hum Genet. 2010 Jan;127(1):121. Hum Genet. 2010. PMID: 20108435 No abstract available.

3

Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.

Gandrille S, Vidaud M, Aiach M, Alhenc-Gelas M, Fischer AM, Gouault-Heilman M, Toulon P, Fiessinger JN, Goossens M. Gandrille S, et al. Hum Mutat. 1992;1(6):491-500. doi: 10.1002/humu.1380010607. Hum Mutat. 1992. PMID: 1301959

4

The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency.

Duchemin J, Gandrille S, Borgel D, Feurgard P, Alhenc-Gelas M, Matheron C, Dreyfus M, Dupuy E, Juhan-Vague I, Aiach M. Duchemin J, et al. Among authors: gandrille s. Blood. 1995 Nov 1;86(9):3436-43. Blood. 1995. PMID: 7579448 Free article.

5

First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency.

Borgel D, Gandrille S, Gouault-Heilmann M, Aiach M. Borgel D, et al. Among authors: gandrille s. Blood Coagul Fibrinolysis. 1994 Aug;5(4):593-600. Blood Coagul Fibrinolysis. 1994. PMID: 7841316

6

Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa deficiencies. The French Network on Molecular Abnormalities Responsible for Protein C and Protein S Deficiencies.

Borgel D, Duchemin J, Alhenc-Gelas M, Matheron C, Aiach M, Gandrille S. Borgel D, et al. Among authors: gandrille s. J Lab Clin Med. 1996 Aug;128(2):218-27. doi: 10.1016/s0022-2143(96)90015-3. J Lab Clin Med. 1996. PMID: 8765219 Clinical Trial.

7

Protein S deficiency.

Borgel D, Gandrille S, Aiach M. Borgel D, et al. Among authors: gandrille s. Thromb Haemost. 1997 Jul;78(1):351-6. Thromb Haemost. 1997. PMID: 9198178 Review.

8

Protein C and protein S deficiencies.

Aiach M, Borgel D, Gaussem P, Emmerich J, Alhenc-Gelas M, Gandrille S. Aiach M, et al. Among authors: gandrille s. Semin Hematol. 1997 Jul;34(3):205-16. Semin Hematol. 1997. PMID: 9241706 Review.

9

First case of sporadic protein S deficiency due to a novel candidate mutation, Ala 484-->Pro, in the protein S active gene (PROS1).

Borgel D, Jude B, Aiach M, Gandrille S. Borgel D, et al. Among authors: gandrille s. Thromb Haemost. 1996 Jun;75(6):883-6. Thromb Haemost. 1996. PMID: 8822580

10

Influence of PROS1 gene mutations affecting protein S amino-acid 275 on plasma free protein S measurement.

Alhenc Gelas M, Juin F, de Raucourt E, Gandrille S, Borgel D, Aiach M. Alhenc Gelas M, et al. Among authors: gandrille s. Thromb Haemost. 2007 Apr;97(4):678-80. Thromb Haemost. 2007. PMID: 17393035 No abstract available.

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