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1. Full Text The prevalence and clinical manifestation of hereditary thrombophilia in Korean patients with unprovoked venous thromboembolisms
by Lee, Su Yeon and Kim, Eun Kyoug and Kim, Min Sun and Shin, Sun Hye and Chang, Haseong and Jang, Shin Yi and Kim, Hee-Jin and Kim, Duk-Kyung
PLoS ONE, ISSN 1932-6203, 10/2017, Volume 12, Issue 10, p. e0185785
Background Hereditary thrombophilia (HT) is a genetic predisposition to thrombosis. Asian mutation spectrum of HT is different from Western ones. We... 
POPULATION | FACTOR-V-LEIDEN | RISK-FACTORS | MANAGEMENT | MULTIDISCIPLINARY SCIENCES | PULMONARY-EMBOLISM | MUTATION | DEEP-VEIN THROMBOSIS | ANTITHROMBIN-III | PROTEIN-C | CARRIERS | Protein C Deficiency - complications | Conjunctivitis - genetics | Protein C Deficiency - physiopathology | Humans | Middle Aged | Plasminogen - genetics | Male | Antithrombin III Deficiency - genetics | Antithrombin III - genetics | Skin Diseases, Genetic - genetics | Thrombophilia - etiology | Protein S Deficiency - genetics | Thrombophilia - diagnosis | Antithrombin III Deficiency - physiopathology | Skin Diseases, Genetic - diagnosis | Adult | Female | Retrospective Studies | Antithrombin III Deficiency - complications | Protein S Deficiency - physiopathology | Skin Diseases, Genetic - complications | Antithrombin III Deficiency - diagnosis | Republic of Korea | Venous Thromboembolism - diagnosis | Thrombophilia - genetics | Gene Expression | Protein S Deficiency - complications | Protein S - genetics | Thrombophilia - physiopathology | Sequence Analysis, DNA | Venous Thromboembolism - etiology | Venous Thromboembolism - genetics | Skin Diseases, Genetic - physiopathology | Venous Thromboembolism - physiopathology | Conjunctivitis - physiopathology | Protein C Deficiency - diagnosis | Aged | Protein C Deficiency - genetics | Conjunctivitis - complications | Protein C - genetics | Protein S Deficiency - diagnosis | Conjunctivitis - diagnosis | Plasminogen - deficiency | Type 2 diabetes | Protein C | Genetic aspects | Research | Nucleotide sequencing | Health aspects | DNA sequencing | Hypertension | Anticoagulants | Stroke | Laboratories | Embolisms | Protein deficiency | Antithrombin | Patients | Thrombosis | Gene sequencing | Proteins | Medicine | Thrombophilia | Protein S | Genetics | Diabetes | Mutation | Thromboembolism | Cardiology | Health risk assessment | Deoxyribonucleic acid--DNA | Veins & arteries | Deoxyribonucleic acid | DNA
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2. Full Text Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease
by Lane, David A and Grant, Peter J
Blood, ISSN 0006-4971, 03/2000, Volume 95, Issue 5, pp. 1517 - 1532
PLATELET GLYCOPROTEIN IIIA | FACTOR-V-LEIDEN | ACTIVATED PROTEIN-C | TISSUE-PLASMINOGEN-ACTIVATOR | BETA-FIBRINOGEN GENE | ALU-REPEAT POLYMORPHISM | COAGULATION-FACTOR-XIII | ISCHEMIC-HEART-DISEASE | FACTOR-VII GENE | HEMATOLOGY | VON-WILLEBRAND-FACTOR | Hyperhomocysteinemia - epidemiology | Sequence Deletion | Humans | Thromboembolism - epidemiology | Arterial Occlusive Diseases - genetics | Thrombophilia - epidemiology | Tissue Plasminogen Activator - genetics | Factor XIII - genetics | Plasminogen Activator Inhibitor 1 - genetics | 3' Untranslated Regions | Thromboembolism - genetics | Thrombophilia - genetics | Factor VII - genetics | Genetic Predisposition to Disease | Risk Factors | Arterial Occlusive Diseases - epidemiology | Hemostasis - genetics | Platelet Membrane Glycoproteins - genetics | Blood Coagulation Factors - genetics | Fibrinogen - genetics | Polymorphism, Genetic | Point Mutation | Fibrinolysis - genetics | Venous Thrombosis - epidemiology | Hyperhomocysteinemia - genetics | Prothrombin - genetics | Factor V - genetics | Venous Thrombosis - genetics | Receptors, Cell Surface - genetics
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3. Full Text A large-scale candidate gene association study of age at menarche and age at natural menopause
by He, Chunyan and Kraft, Peter and Chasman, Daniel I and Buring, Julie E and Chen, Constance and Hankinson, Susan E and Paré, Guillaume and Chanock, Stephen and Ridker, Paul M and Hunter, David J
Human Genetics, ISSN 0340-6717, 11/2010, Volume 128, Issue 5, pp. 515 - 527
Recent genome-wide association (GWA) studies have identified several novel genetic loci associated with age at menarche and age at natural menopause. However,... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | BREAST-CANCER | QUANTITATIVE TRAIT LOCI | ENDOMETRIAL CANCER-RISK | CAUCASIAN FEMALES | BONE-MINERAL DENSITY | ESTROGEN-RECEPTOR-ALPHA | GENETICS & HEREDITY | CARDIOVASCULAR-DISEASE | REPRODUCTIVE FACTORS | PREDICTIVE FACTORS | GENOME-WIDE ASSOCIATION | Puberty, Delayed - genetics | Women's Health | Age Factors | Humans | Menopause - genetics | Middle Aged | Obesity - genetics | Puberty, Precocious - genetics | Gonadal Steroid Hormones - genetics | Nurses | Female | Tobacco Use Disorder - genetics | Child | Somatomedins - metabolism | Thrombophilia - genetics | Genetic Predisposition to Disease | Gonadal Steroid Hormones - metabolism | Genetic Association Studies | Signal Transduction | Menarche - genetics | Genotype | Linear Models | Smoking - genetics | Menarche - metabolism | Obesity - metabolism | Phenotype | Menopause - metabolism | Transforming Growth Factor beta - genetics | Somatomedins - genetics | Adolescent | Age of Onset | Polycystic Ovary Syndrome - genetics | Primary Ovarian Insufficiency - genetics | Polymorphism, Single Nucleotide | Thrombophilia - metabolism | Transforming Growth Factor beta - metabolism | Women | Physiological aspects | Health aspects | Genes | Menopause | Genomics | Index Medicus | age at menarche | biologically plausible pathways | candidate genes | age at natural menopause
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4. Full Text Genetics of venous thrombosis
by ROSENDAAL, F. R and REITSMA, P. H
Journal of Thrombosis and Haemostasis, ISSN 1538-7933, 07/2009, Volume 7, Issue 1, pp. 301 - 304
Venous thrombosis (deep vein thrombosis, pulmonary embolism) is a common and serious disorder, with genetic and acquired risk factors. The genetic risk factors... 
epidemiology | thrombophilia | risk factors | genetics | venous thrombosis | Thrombophilia | Genetics | Venous thrombosis | Epidemiology | Risk factors | FAMILIAL THROMBOPHILIA | ACTIVATED PROTEIN-C | DEEP-VEIN THROMBOSIS | ANTITHROMBIN DEFICIENCY | FACTOR-V-LEIDEN | HEALTHY POPULATION | PLASMA | RISK-FACTOR | POOR ANTICOAGULANT RESPONSE | RESISTANCE | PERIPHERAL VASCULAR DISEASE | HEMATOLOGY | Pulmonary embolism | Fibrin | Protein C | Genetic aspects | Thrombophlebitis | Blood coagulation factors
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5. Full Text Multiple thrombophilic single nucleotide polymorphisms lack a significant effect on outcomes in fresh IVF cycles: an analysis of 1717 patients
by Patounakis, George and Bergh, Eric and Forman, Eric J and Tao, Xin and Lonczak, Agnieszka and Franasiak, Jason M and Treff, Nathan and Scott Jr, Richard T
Journal of Assisted Reproduction and Genetics, ISSN 1058-0468, 1/2016, Volume 33, Issue 1, pp. 67 - 73
The aim of the study is to determine if thrombophilic single nucleotide polymorphisms (SNPs) affect outcomes in fresh in vitro fertilization (IVF) cycles in a... 
Human Genetics | Thrombophilia | Pregnancy | Medicine & Public Health | SNP | Gynecology | Infertility | IVF outcomes | Reproductive Medicine | METAANALYSIS | V-LEIDEN MUTATION | MISCARRIAGE | OBSTETRICS & GYNECOLOGY | EMBRYO-TRANSFER | WOMEN | IMPLANTATION FAILURE | REPRODUCTIVE BIOLOGY | GENETICS & HEREDITY | INHERITED THROMBOPHILIA | VITRO FERTILIZATION FAILURE | Thrombophilia - genetics | Genetic Predisposition to Disease | Thrombophilia - pathology | Infertility - pathology | Humans | Embryo Implantation - genetics | Fibrinogen - genetics | Infertility - genetics | Factor XIII - genetics | Fertilization in Vitro | Antigens, Human Platelet - genetics | Methylenetetrahydrofolate Reductase (NADPH2) - genetics | Adult | Female | Prothrombin - genetics | Factor V - genetics | Polymorphism, Single Nucleotide | Mutation | Plasminogen Activator Inhibitor 1 - genetics | Pregnancy Outcome - genetics | Fertilization in vitro | Women | Fibrin | Medical colleges | Analysis | Fibrinogen | Resveratrol | Thrombin | Genetic aspects | Single nucleotide polymorphisms | Chromosomes | Health aspects | Genetics
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6. Full Text ACMG practice guideline: Lack of evidence for MTHFR polymorphism testing
by Hickey, Scott E and Curry, Cynthia J and Toriello, Helga V
Genetics in Medicine, ISSN 1098-3600, 02/2013, Volume 15, Issue 2, pp. 153 - 156
MTHFR polymorphism testing is frequently ordered by physicians as part of the clinical evaluation for thrombophilia. It was previously hypothesized that... 
homocysteine | thrombophilia | thrombosis | folic acid | thermolabile variant | MTHFR polymorphism | FOLIC-ACID FORTIFICATION | NEURAL-TUBE DEFECTS | CARDIOVASCULAR-DISEASE MORTALITY | COMPREHENSIVE METAANALYSIS | METHYLENE TETRAHYDROFOLATE REDUCTASE | C677T POLYMORPHISM | GENETICS & HEREDITY | METHYLENETETRAHYDROFOLATE REDUCTASE GENE | A1298C POLYMORPHISMS | PLASMA HOMOCYSTEINE | ISCHEMIC-STROKE | Thrombophilia - genetics | Genetic Predisposition to Disease - genetics | Genetics, Medical - methods | Genetic Testing - standards | Genetics, Medical - standards | United States | Humans | Risk Factors | Genomics - standards | Coronary Disease - diagnosis | Polymorphism, Genetic | Thrombophilia - diagnosis | Venous Thromboembolism - genetics | Coronary Disease - genetics | Methylenetetrahydrofolate Reductase (NADPH2) - genetics | Genomics - organization & administration | Genetics, Medical - organization & administration | Hyperhomocysteinemia - diagnosis | Hyperhomocysteinemia - genetics | Genomics - methods | Practice Guidelines as Topic | Venous Thromboembolism - diagnosis | Abortion
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7. Full Text The genetics of antithrombin
by Corral, Javier and de la Morena-Barrio, María Eugenia and Vicente, Vicente
Thrombosis Research, ISSN 0049-3848, 09/2018, Volume 169, pp. 23 - 29
Antithrombin is a key endogenous anticoagulant whose deficiency constitutes a strong risk factor for thrombosis. The study of antithrombin deficiency has... 
Mutations | SERPINC1 | Antithrombin | Thrombosis | RISK-FACTORS | DEFICIENCY | CAMBRIDGE-II | VENOUS THROMBOEMBOLISM | HEREDITARY | IN-VIVO | THROMBOPHILIA | PERIPHERAL VASCULAR DISEASE | PROTEIN-S | HEMATOLOGY | SERPIN ANTITHROMBIN | Genetic Predisposition to Disease | Animals | Antithrombin III - chemistry | Humans | Models, Molecular | Protein Conformation | Antithrombin III Deficiency - genetics | Mutation | Antithrombin III Deficiency - diagnosis | Antithrombin III - genetics | Medical research | Anopheles | Gene mutations | Analysis | Genes | Medicine, Experimental | Genetic aspects | Anticoagulants (Medicine)
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8. Full Text A prospective case-control study analyzes 12 thrombophilic gene mutations in Turkish couples with recurrent pregnancy loss
by Yenicesu, Gonca Imir and Cetin, Meral and Ozdemir, Ozturk and Cetin, Ali and Ozen, Filiz and Yenicesu, Cem and Yildiz, Caglar and Kocak, Nadir
American Journal of Reproductive Immunology, ISSN 1046-7408, 02/2010, Volume 63, Issue 2, pp. 126 - 136
Problem Recurrent pregnancy loss (RPL) is a heterogeneous disorder. The contribution of specific thrombophilic genes to the pathophysiology of RPL has remained... 
Thrombophilic genes | Couples | Mutation | Recurrent pregnancy loss | ACTIVATED PROTEIN-C | MYOCARDIAL-INFARCTION | PLASMA-FIBRINOGEN | thrombophilic genes | recurrent pregnancy loss | METHYLENETETRAHYDROFOLATE REDUCTASE C677T | IMMUNOLOGY | mutation | REPRODUCTIVE BIOLOGY | FACTOR-V-LEIDEN | PLASMINOGEN-ACTIVATOR | BETA-FIBRINOGEN GENE | SPONTANEOUS-ABORTION | FACTOR-XIII | CORONARY-ARTERY-DISEASE | Prospective Studies | Humans | Pregnancy Complications, Hematologic - blood | Male | Thrombophilia - complications | Case-Control Studies | Pregnancy Complications, Hematologic - genetics | Young Adult | Peptidyl-Dipeptidase A - genetics | Abortion, Habitual - blood | Methylenetetrahydrofolate Reductase (NADPH2) - genetics | Abortion, Habitual - genetics | Adult | Female | Integrin beta3 - genetics | Abortion, Habitual - etiology | Plasminogen Activator Inhibitor 1 - genetics | Thrombophilia - genetics | Genetic Predisposition to Disease | Gene Frequency | Apolipoproteins B - genetics | Fibrinogen - genetics | Pregnancy | Homozygote | Turkey | Thrombophilia - blood | Apolipoproteins E - genetics | Adolescent | Heterozygote | Prothrombin - genetics | Factor V - genetics | Pregnancy Complications, Hematologic - etiology
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9. Full Text Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency
by Toderici, Mara and De La Morena-Barrio, María Eugenia and Padilla, José and Miñano, Antonia and Antón, Ana Isabel and Iniesta, Juan Antonio and Herranz, María Teresa and Fernández, Nuria and Vicente, Vicente and Corral, Javier
PLoS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3, p. e0152159
Antithrombin is a crucial anticoagulant serpin whose even moderate deficiency significantly increases the risk of thrombosis. Most cases with antithrombin... 
SUPPLEMENTATION | RISK-FACTORS | VENOUS THROMBOEMBOLISM | THROMBOSIS | MULTIDISCIPLINARY SCIENCES | REGIONS | THROMBOPHILIA | MICE | PROTEIN-S | EXPRESSION | III GENE | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Exons - genetics | Male | Antithrombin III Deficiency - genetics | Mutation - genetics | Vitamin D Response Element - genetics | Promoter Regions, Genetic - genetics | Antithrombin III - genetics | Hep G2 Cells | Aged, 80 and over | Cell Line, Tumor | Adult | Female | Polymorphism, Genetic - genetics | Thrombosis - genetics | Thromboembolism - genetics | Antithrombins | Vitamin D | Gene mutations | Analysis | Calcifediol | Influence | Alfacalcidol | Research | Health aspects | Plasma | Anticoagulants | Transcription | Blood & organ donations | Incubation | Exons | Gene regulation | Whites | Regulatory sequences | Gene expression | Gene polymorphism | Antithrombin | Thrombosis | Defects | Gene sequencing | Womens health | Mutation | Conditioning | Thromboembolism | Health risk assessment | Polymorphism
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10. Full Text Placenta-mediated pregnancy complications are not associated with fetal or paternal factor V Leiden mutation
by Nevalainen, Jaana and Ignatius, Jaakko and Savolainen, E.-R and Ryynanen, Markku and Jarvenpaa, Jouko
European Journal of Obstetrics and Gynecology, ISSN 0301-2115, 11/2018, Volume 230, pp. 32 - 35
Maternal thrombophilia is a risk factor for adverse pregnancy outcomes. The aim of this study was to elucidate the controversial role of fetal and paternal... 
Thrombophilia | Pregnancy complication | Preeclampsia | GENE-MUTATIONS | WOMEN | INHERITED THROMBOPHILIAS | REPRODUCTIVE BIOLOGY | GENOTYPE | OBSTETRIC OUTCOMES | RISK | PREVALENCE | OBSTETRICS & GYNECOLOGY | Pre-Eclampsia - genetics | Activated Protein C Resistance - epidemiology | Pre-Eclampsia - epidemiology | Prevalence | Placenta Diseases - epidemiology | Placenta Diseases - genetics | Humans | Abruptio Placentae - epidemiology | Fetal Growth Retardation - genetics | Male | Stillbirth - genetics | Case-Control Studies | Pregnancy Complications, Hematologic - genetics | Fetal Diseases - genetics | Methylenetetrahydrofolate Reductase (NADPH2) - genetics | Fetal Diseases - epidemiology | Adult | Female | Abruptio Placentae - genetics | Activated Protein C Resistance - genetics | Fetal Growth Retardation - epidemiology | Paternal Inheritance - genetics | Pregnancy | Stillbirth - epidemiology | Prothrombin - genetics | Factor V - genetics | Mutation | Pregnancy Complications, Hematologic - epidemiology | Pregnancy Outcome | Medicine, Experimental | Medical research | Thrombin | Genetic aspects | Pregnant women | Obstetrics
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11. Full Text Population genetics of venous thromboembolism: A narrative review
by Margaglione, Maurizio and Grandone, Elvira
Thrombosis and Haemostasis, ISSN 0340-6245, 02/2011, Volume 105, Issue 2, pp. 221 - 231
Results from epidemological studies are consistent with the hypothesis that disparities in venous thromboembolism (VIE) burden are attributable to differences... 
Thrombophilia | Epidemiological studies | Inherited coagulation disorders | Gene mutations | Familial thrombosis | COAGULATION-FACTOR-V | RISK-FACTORS | ACTIVATED PROTEIN-C | VON-WILLEBRAND-FACTOR | SICKLE-CELL TRAIT | inherited coagulation disorders | MEMBRANE PHOSPHOLIPID ASYMMETRY | thrombophilia | FACTOR-V-LEIDEN | THALASSEMIA-INTERMEDIA PATIENTS | PERIPHERAL VASCULAR DISEASE | gene mutations | familial thrombosis | HEMATOLOGY | ABO BLOOD-GROUP | DEEP-VEIN-THROMBOSIS | Genetics, Population | Genetic Predisposition to Disease | Genetic Testing | Genetic Association Studies | Risk Assessment | Venous Thromboembolism - ethnology | Humans | Risk Factors | Continental Population Groups - genetics | Venous Thromboembolism - blood | Genetic Variation | Phenotype | Venous Thromboembolism - genetics | DNA Mutational Analysis | Blood Coagulation - genetics
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12. Full Text Investigation on genetic thrombophilic factors in FFPE autopsy tissue from subjects who died from pulmonary embolism
by Brandimarti, Francesco and Alessandrini, Federica and Pesaresi, Mauro and Catalani, Chiara and De Angelis, Letizia and Galeazzi, Roberta and Giovagnetti, Simona and Gesuita, Rosaria and Righi, Elisa and Giorgetti, Raffaele and Tagliabracci, Adriano
International Journal of Legal Medicine, ISSN 0937-9827, 3/2017, Volume 131, Issue 2, pp. 447 - 458
Venous thromboembolism (VTE) is a multifactorial disease determined by a combination of inherited and acquired factors. Inherited factors include mutations in... 
Pulmonary embolism | Forensic Medicine | Medicine & Public Health | Deep vein thrombosis | Medical Law | Hereditary thrombophilia | Medicine/Public Health, general | Venous thromboembolism | FACTOR-V-LEIDEN | POLYMORPHISMS | MEDICINE, LEGAL | TFPI GENE | DEEP-VEIN THROMBOSIS | RISK |