Borgel D - Search Results

1

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. 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.

2

MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylation.

Kauskot A, Mallebranche C, Bruneel A, Fenaille F, Solarz J, Viellard T, Feng M, Repérant C, Bordet JC, Cholet S, Denis CV, McCluskey G, Latour S, Martin E, Pellier I, Lasne D, Borgel D, Kracker S, Ziegler A, Tuffigo M, Fournier B, Miot C, Adam F. Kauskot A, et al. Among authors: borgel d. J Thromb Haemost. 2023 Nov;21(11):3268-3278. doi: 10.1016/j.jtha.2023.05.007. Epub 2023 May 18. J Thromb Haemost. 2023. PMID: 37207862 Free article.

3

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: borgel d. Blood. 1995 Nov 1;86(9):3436-43. Blood. 1995. PMID: 7579448 Free article.

4

Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene.

Gandrille S, Borgel D, Eschwege-Gufflet V, Aillaud M, Dreyfus M, Matheron C, Gaussem P, Abgrall JF, Jude B, Sie P, et al. Gandrille S, et al. Among authors: borgel d. Blood. 1995 Jan 1;85(1):130-8. Blood. 1995. PMID: 7803790 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. Blood Coagul Fibrinolysis. 1994 Aug;5(4):593-600. Blood Coagul Fibrinolysis. 1994. PMID: 7841316

6

Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families.

Duchemin J, Borg JY, Borgel D, Vasse M, Lévèque H, Aiach M, Gandrille S. Duchemin J, et al. Among authors: borgel d. Thromb Haemost. 1996 Mar;75(3):437-44. Thromb Haemost. 1996. PMID: 8701404

7

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. Thromb Haemost. 1996 Jun;75(6):883-6. Thromb Haemost. 1996. PMID: 8822580

8

Protein S deficiency.

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

9

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: borgel d. Semin Hematol. 1997 Jul;34(3):205-16. Semin Hematol. 1997. PMID: 9241706 Review.

10

Protein S deficiency: a database of mutations. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

Gandrille S, Borgel D, Ireland H, Lane DA, Simmonds R, Reitsma PH, Mannhalter C, Pabinger I, Saito H, Suzuki K, Formstone C, Cooper DN, Espinosa Y, Sala N, Bernardi F, Aiach M. Gandrille S, et al. Among authors: borgel d. Thromb Haemost. 1997 Jun;77(6):1201-14. Thromb Haemost. 1997. PMID: 9241758 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

120 results

Search Page

Filters