Hereditary Factors in Esophageal Adenocarcinoma. [PDF]
Gastrointest Tumors, 2014 <b><i>Background:</i></b> The vast majority of Barrett's esophagus (BE) and esophageal adenocarcinoma (EAC) cases are sporadic and caused by somatic mutations. However, over the last decades several families have been identified with clustering of EAC.
van Nistelrooij AM +5 more
europepmc +5 more sources
Relation among hypertriglyceridaemia, cardiometabolic disease, and hereditary factors-design and rationale of the Stockholm hyperTRIglyceridaemia REGister study. [PDF]
Eur Heart J OpenAndersson DP +8 more
europepmc +2 more sources
Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study [PDF]
, 2020 Background Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities.
Coelho, Teresa +5 more
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Hereditary complement factor I deficiency [PDF]
QJM : monthly journal of the Association of Physicians, 1994 We describe four cases (from three families) of hereditary factor I deficiency, bringing the total number of cases now reported to 23. In one family there are two affected siblings: one has suffered recurrent pyogenic infections; the other is asymptomatic.
VYSE, T.J. +7 more
openaire +3 more sources
The Differential Role of Human Cationic Trypsinogen (PRSS1) p.R122H Mutation in Hereditary and Nonhereditary Chronic Pancreatitis: A Systematic Review and Meta-Analysis. [PDF]
, 2017 Background:Environmental factors and genetic mutations have been increasingly recognized as risk factors for chronic pancreatitis (CP). The PRSS1 p.R122H mutation was the first discovered to affect hereditary CP, with 80% penetrance.
Deng, Lihui +8 more
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HEREDITARY FACTORS IN PEPTIC ULCER [PDF]
Annals of Eugenics, 1949 The articles published by the Annals of Eugenics (1925–1954) have been made available online as an historical archive intended for scholarly use. The work of eugenicists was often pervaded by prejudice against racial, ethnic and disabled groups. The online publication of this material for scholarly research purposes is not an endorsement of those views
R, DOLL, J, BUCH
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Risk of angioedema following invasive or surgical procedures in HAE type I and II : the natural history [PDF]
, 2013 Background: Hereditary angioedema (HAE), caused by deficiency in C1-inhibitor (C1-INH), leads to unpredictable edema of subcutaneous tissues with potentially fatal complications.
Aygören-Pürsün, Emel +4 more
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Hereditary Factor X (Stuart-Prower Factor) Deficiency [PDF]
Medical Journal Armed Forces India, 2008 Inherited deficiency of Factor X was first reported way back in mid 1950s by workers who were studying patients with a haemorrhagic disease resembling factor VII deficiency. It is also known by the surnames of the patients who were first found to manifest the defect (Stuart and Prower).
P K, Gupta, H, Kumar, S, Kumar
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Circulatory contributors to the phenotype in hereditary hemorrhagic telangiectasia [PDF]
, 2015 Hereditary hemorrhagic telangiectasia (HHT) is mechanistically and therapeutically challenging, not only because of the molecular and cellular perturbations that generate vascular abnormalities, but also the modifications to circulatory physiology that ...
Shovlin, CL
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The roles of endoglin gene in cerebrovascular diseases. [PDF]
, 2017 Endoglin (ENG, also known as CD105) is a transforming growth factor β (TGFβ) associated receptor and is required for both vasculogenesis and angiogenesis.
Ma, Li, Su, Hua, Zhang, Rui, Zhu, Wan
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