90 related articles for article (PubMed ID: 8701404)
1. 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
Thromb Haemost; 1996 Mar; 75(3):437-44. PubMed ID: 8701404
[TBL] [Abstract][Full Text] [Related]
2. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.
Andersen BD; Lind B; Philips M; Hansen AB; Ingerslev J; Thorsen S
Thromb Haemost; 1996 Aug; 76(2):143-50. PubMed ID: 8865520
[TBL] [Abstract][Full Text] [Related]
3. First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency.
Borgel D; Gandrille S; Gouault-Heilmann M; Aiach M
Blood Coagul Fibrinolysis; 1994 Aug; 5(4):593-600. PubMed ID: 7841316
[TBL] [Abstract][Full Text] [Related]
4. Gene mutations in 21 unrelated cases of phenotypic heterozygous protein C deficiency and thrombosis. Protein C Study Group.
Ireland H; Thompson E; Lane DA
Thromb Haemost; 1996 Dec; 76(6):867-73. PubMed ID: 8972002
[TBL] [Abstract][Full Text] [Related]
5. 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
Hum Mutat; 1992; 1(6):491-500. PubMed ID: 1301959
[TBL] [Abstract][Full Text] [Related]
6. Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees.
Gómez E; Poort SR; Bertina RM; Reitsma PH
Thromb Haemost; 1995 May; 73(5):750-5. PubMed ID: 7482398
[TBL] [Abstract][Full Text] [Related]
7. Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families.
Andersen BD; Bisgaard ML; Lind B; Philips M; Villoutreix B; Thorsen S
Thromb Haemost; 2001 Dec; 86(6):1392-9. PubMed ID: 11776305
[TBL] [Abstract][Full Text] [Related]
8. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.
Espinosa-Parrilla Y; Morell M; Souto JC; Tirado I; Fontcuberta J; Estivill X; Sala N
Hum Mutat; 1999; 14(1):30-9. PubMed ID: 10447256
[TBL] [Abstract][Full Text] [Related]
9. [Screening methods in genetic diagnosis of hereditary protein C deficiency].
Dávid M; Losonczy H; Nagy A; Kutscher G; Meyer M
Orv Hetil; 1999 Jan; 140(3):125-32. PubMed ID: 9990817
[TBL] [Abstract][Full Text] [Related]
10. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
Azian M; Hapizah MN; Khalid BA; Khalid Y; Rosli A; Jamal R
Malays J Pathol; 2006 Jun; 28(1):7-15. PubMed ID: 17694954
[TBL] [Abstract][Full Text] [Related]
11. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
12. One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.
Mizukami K; Nakabayashi T; Naitoh S; Takeda M; Tarumi T; Mizoguchi I; Ieko M; Koike T
Am J Hematol; 2006 Oct; 81(10):787-97. PubMed ID: 16868938
[TBL] [Abstract][Full Text] [Related]
13. Six different point mutations in seven Danish families with symptomatic protein C deficiency.
Lind B; Schwartz M; Thorsen S
Thromb Haemost; 1995 Feb; 73(2):186-93. PubMed ID: 7792728
[TBL] [Abstract][Full Text] [Related]
14. Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.
Okada H; Takagi A; Murate T; Adachi T; Yamamoto K; Matsushita T; Takamatsu J; Sugita K; Sugimoto M; Yoshioka A; Yamazaki T; Saito H; Kojima T
Br J Haematol; 2004 Jul; 126(2):219-25. PubMed ID: 15238143
[TBL] [Abstract][Full Text] [Related]
15. Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
Hirayama T; Yamaki E; Hata A; Tsuji M; Hashimoto K; Yamamoto M; Emi M
J Hum Genet; 1998; 43(4):250-4. PubMed ID: 9852677
[TBL] [Abstract][Full Text] [Related]
16. Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.
Espinosa-Parrilla Y; Morell M; Borrell M; Souto JC; Fontcuberta J; Estivill X; Sala N
Hum Mutat; 2000; 15(5):463-73. PubMed ID: 10790208
[TBL] [Abstract][Full Text] [Related]
17. Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.
Jap TS; Chiu CY; Won JG; Wu YC; Chen HS
Clin Endocrinol (Oxf); 2005 Mar; 62(3):336-42. PubMed ID: 15730416
[TBL] [Abstract][Full Text] [Related]
18. Protein C and protein S assessment in hospital laboratories: which strategy and what role for DNA sequencing?
Labrouche S; Reboul MP; Guérin V; Vergnes C; Freyburger G
Blood Coagul Fibrinolysis; 2003 Sep; 14(6):531-8. PubMed ID: 12960605
[TBL] [Abstract][Full Text] [Related]
19. Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene.
Hermida J; Faioni EM; Mannucci PM
Thromb Haemost; 1999 Dec; 82(6):1634-8. PubMed ID: 10613647
[TBL] [Abstract][Full Text] [Related]
20. Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency.
Zöller B; Holm J; Svensson P; Dahlbäck B
Thromb Haemost; 1996 Feb; 75(2):270-4. PubMed ID: 8815575
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
