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A molecular variant of angiotensinogen associated with preeclampsia
Pregnancy–induced hypertension (PIH) is a heterogeneous disorder which complicates 5–7% of all pregnancies and remains a leading cause of maternal, fetal and neonatal morbidity and mortality. SevereExpand
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The factor V Leiden mutation may predispose women to severe preeclampsia.
OBJECTIVE A recent study showed that resistance to activated protein C may underlie some cases of severe preeclampsia. A common missense mutation in the factor V gene, the Leiden mutation, is theExpand
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The Heritability of Preterm Delivery
OBJECTIVE: To study the heritability of preterm delivery. METHODS: Women who delivered a singleton infant at less than 36 weeks of gestation were asked about their family history. Twenty-eightExpand
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Validation of DNA-Based Prognostic Testing to Predict Spinal Curve Progression in Adolescent Idiopathic Scoliosis
Study Design. Validation of a prognostic DNA marker panel. Objective. The goals of this study were to develop and test the negative predictive value of a prognostic DNA test for adolescent idiopathicExpand
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Haplotypes at LBX1 Have Distinct Inheritance Patterns with Opposite Effects in Adolescent Idiopathic Scoliosis
Adolescent idiopathic scoliosis (AIS) is a clinically significant disorder with high heritability that affects 2–4% of the population. Genome-wide association studies have identified LBX1 as a strongExpand
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Fetal carriers of the factor V Leiden mutation are prone to miscarriage and placental infarction.
OBJECTIVES The factor V Leiden mutation is the most common genetic predisposition to thrombosis. However, little is known concerning the reproductive outcome of mutation carriers or prenatalExpand
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The incidence of the factor V Leiden mutation in an obstetric population and its relationship to deep vein thrombosis.
OBJECTIVE A common missense mutation in the factor V gene, the Leiden mutation, renders factor Va resistant to cleavage inactivation by activated protein C and predisposes patients to thromboticExpand
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Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred.
HHT type 2 (HHT 2) is a multi-system vascular dysplasia caused by a mutation in the ALK-1 gene, but the phenotype has not been well defined. We report on 51 members of an HHT 2 kindred with an ALK-1Expand
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Genetic Variants in Melatonin Synthesis and Signaling Pathway are not Associated with Adolescent Idiopathic Scoliosis
Study Design. Genetic association study investigating the association of genetic markers of melatonin signaling and biosynthesis with adolescent idiopathic scoliosis (AIS). Objective. To determineExpand
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A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12.
Total anomalous pulmonary venous return (TAPVR) is a cyanotic congenital heart defect that, without surgical correction, has a high mortality rate in the first year of life. It usually occurs withoutExpand
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