Reference list for polymorphisms
1. Lunghi B, Castoldi E, Mingozzi F, Bernardi F: A New Factor V Gene Polymorphism
(His 1254 Arg) Present in Subjects of African Origin Mimics the R2 Polymorphism (His
1299 Arg). Blood (letter), 91:364-365, 1998.
2. Sharma P, Carter ND, Barley J, Brown MM: Molecular Approach to Assessing the
Genetic Risk of Cerebral Infarction: Deletion Polymorphism in the Gene Encoding
Angiotensin 1-Converting Enzyme. J Hum Hyperten, 8:645-648, 1994.
3. Veda S, Weir CJ, Inglis GC, Murray GD, Muir KW, Lees KR: Lack of Association
Between Angiotensin Converting Enzyme Gene Insertion/Deletion Polymorphism and
Stroke. J Hyperten, 13:1597, 1995.
4. Gomez E, van der Poel SCPAM, Jansen JH, van der Reijden BA, Lowenberg B: Rapid
Simultaneous Screening of Factor V Leiden and G20210A Prothrombin Variant by
Multiplex PCR on Whole Blood (letter). Blood 91;2208-9, 1998.
5. Helley D, Besmond C, Ducrocq R, da Silva F, Guilin MC, Bezeaud A, Elion J:
Polymorphism in Exon 10 of the Human Coagulation Factor V Gene in a Population at
Risk for Sickle Cell Disease. Hum Genet 100;245, 1997.
6. Lunghi B, Lacoviello L, Gemmati D, Dilasio MG, Castoldi E, Pinotti M, Castaman G,
Redaelli R, Mariani G, Marchetti G, Bernardi F: Detection of New Polymorphic Markers
in the Factor V Gene: Association with Factor V Levels in Plasma. Thromb Haemost
75;45-8, 1996.
7. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, den
Heijer M, Kluijtmans LAJ, van den Heuvel LP, Rozen R: A Candidate Genetic Risk for
Vascular Disease: A Common Mutation in MTHFR. Nature Genet 10;111-3, 1995.
8. Kluijtmans LAJ, van den Heuvel LP, Boers GJH, Frosst P, Stevens EMB, van Oost BA,
den Heijer M, Trijbels FJM, Rozen R, BlomHJ: Molecular Genetic Analysis in Mild
Hyperhomocysteinemia: Common Mutation in the MTHFR Gene is a Risk Factor for
Cardiovascular Disease. Am J Hum Genet 58;3541, 1996.
9. Thomas AE, Green FR, Kelleher CH, Wilkes HC, Brennan PJ, Meade TW, Humphries
SE: Variation in the Promoter Region of the -Fibrinogen Gene is Associated with
Plasma Fibrinogen Levels in Smokers and Non-Smokers. Thromb Haemost 65;487-90,
1991.
10. Thomas A, Lamlum H, Humphries S, Green F: Linkage Disequilibrium Across the
Fibrinogen Locus as Shown by Five Genetic Polymorphisms, G/A455 (Hae III), C/T148
(HindIII/Alu I), T/G1689 (AvaII), and bc/I (-Fibrinogen) and TaqI (-Fibrinogen), and
their detection by PCR. Hum Mutat 3; 79-81, 1994.
11. Heywood DM, Carter AM, Catto AJ, Bamford JM, Grant PJ: Polymorphisms of the
Factor VII Gene and Circulating FVII: C Levels in Relation to Acute Cerebrovascular
Disease and Post Stroke Mortality. Stroke 28;816-21, 1997.
12. Kangsadalampai S, Board PG: The Val34Leu Polymorphism in the A Subunit of
Coagulation Factor XIII Contributes to the Large Normal Range in Activity and
Demonstrates that the Activation Peptide Plays a Role in Catalytic Activity. Blood 92-8;
2766-70, 1998.
13. van der Velden PA, Krommenhoek-Van Es T, Allaart CF, Bertina RM, Reitsma PH: A
Frequent Thrombomodulin Amino Acid Dimorphism is not Associated with
Thrombophilia. Thromb Haemost 65;511-3, 1991.
14. Doggen CJM, Kunz G, Rosendaal FR, Lane DA, Vos HL, Stubbs PJ, Cats VM, Ireland
H: A Mutation in the Thrombomodulin Gene, 127 G A Coding for Ala25Thr, and the
Risk of Myocardial Infarction in Men. Thromb Haemost 80: 743-8, 1998.
15. Margaglione M, Grandone E, Vecchione G, Cappucci G, Giuliani N, Colaizzo D,
Celentano E, Panico S, Di Minno G: Plasminogen Activator Inhibitor-1 (PAI-1) Antigen
Plasma Levels in Subjects Attending a Metabolic Ward: Relation to Polymorphisms of
PAI-1 and Angiotensin Converting Enzyme (ACE) Genes. Arterioscler Thromb Vasc
Biol 17;2082-7, 1997.
16. Weiss EJ, Bray PF, Tayback M, Schulman SP, Kickler TS, Becker LC, Weiss JL,
Gerstenblith G, Pascal J: A Polymorphism of a Platelet Glycoprotein Receptor as an
Inherited Risk Factor for Coronary Thrombosis. N Engl J Med 1090-1094, 1996 April.
17. Ishida F, Furihata K, Ishida K, Yan J, Kitano K, Kiyosawa K, Furuta S: The Largest
Variant of Platelet Glycoprotein Ib has 4 Tandem Repeats of 13 Aminoacids in the
Macroglycopeptide Region and a Genetic Linkage with Methionine. Blood 86-4; 135660, 1995.
18. Di Paola J, Federici AB, Mannucci PM, Canciani MT, Kritzik M, Kunicki TJ, Nugent D:
Loe Platelet 21 Levels in Type I von Willebrand Disease Correlate with Impaired
Platelet Function in a High Shear Stress System. Blood 93-11; 3578-3582, 1999.
19. Wilson AG, di Giovine FS, Blakemore AIF, Duff GW: Single Base Polymorphism in the
Human Tumor Necrosis Factor -gene Detectable by Nco I Restriction of PCR Product.
Hum Mol Genet 1;353, 1992.
20. Groenendijk M, Cantor RM, De Bruin TWA, Dallinga-Thie GM: New Genetic Variants
in the ApoA-I and ApoC-III Genes and Familial Combined Hyperlipidemia. J Lipid Res
42;188-94, 2001.
21. Hixson JE, Vernier DT: Restriction Isotyping of Human Apolipoprotein E by Gene
Amplification and Cleavage with Hha I. J Lipid Res 31;545-8, 1990.
22. Cybulsky MI, Fries JWU, Williams AJ, Sultan P, Eddy R, Byers M, Shows T, Gimbrone
MA, Collins T: Gene Structure, Chromosomal Location, and Basis for Alternative
mRNA Splicing of the Human VCAM1 Gene. Proc Natl Acad Sci USA 88;7859-63,
1991.
23. Zheng F, Chevalier JA, Zhang LQ, Virgil D, Ye SQ, Kwiterovich PO: An Hph I
Polymorphism in the E- selectin Gene is Associated with Premature Coronary Artery
Disease. Clin Genet 59; 58-64, 2001.
24. Wenzel K, Ernst M, Rohde K, Baumann G, Speer A: DNA Polymorphisms in Adhesion
Molecule Genes: A New Risk Factor for Early Atherosclerosis. Hum Genet 97;15-20,
1996.
25. Kretowski A, Kinalska I: L-selectin Gene T668C Mutation in Type 1 Diabetes Patients
and their First Degree Relatives. Imm Let 74;225-8, 2000.
26. Herrmann SM, Ricard S, Nicaud V, Mallet C, Evans A, Ruidavets JB, Arveiler D, Luc G,
Cambien F: The P-selectin Gene is Highly Polymorphic: Reduced Frequency of the
Pro715 Allele Carriers in Patients with Myocardial Infarction. Hum Mol Genet 7/8;127784, 1998.