Results 1 to 10 of about 509,181 (309)
Hereditary Cancer in Clinical Practice, 2020 Background Matrix metalloproteinases (MMPs) and metallothioneins (MTs) are Zinc-related proteins which are involved in processes crucial for carcinogenesis such as angiogenesis, proliferation and apoptosis.
Katarzyna Białkowska +17 more
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Genetic testing for hereditary breast cancer in Poland: 1998–2022
Hereditary Cancer in Clinical Practice, 2023 BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers and 10% of patients with ovarian cancer carry a mutation in BRCA1.
Jacek Gronwald +7 more
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Frontiers in Endocrinology, 2021 IntroductionPheochromocytomas are rare catecholamine-producing neuroendocrine tumours arising from chromaffin cells of the adrenal medulla or extra-adrenal sympathetic paraganglia.
Diana Borges Duarte +12 more
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Frontiers in Neurology, 2017 BackgroundSpinocerebellar ataxia type 2 (SCA2) is an inherited and still incurable neurodegenerative disorder. Evidence suggests that pro-oxidant agents as well as factors involved in antioxidant cellular defenses are part of SCA2 physiopathology.AimTo ...
Dennis Almaguer-Gotay +8 more
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A patient with recurrent fever – TRAPped for diagnosis!
Current Medical Issues, 2022 Hereditary recurrent fever syndromes are rarely diagnosed in India, and the age at diagnosis is usually childhood or early adulthood. We present an adult male patient with recurrent fever since childhood who presented to us at 59 years of age and was ...
Hari Kishan Boorugu +3 more
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Phenotypic Characterization of Idiopathic Epilepsy in Border Collies
Frontiers in Veterinary Science, 2022 The prevalence of idiopathic epilepsy (IE) within the Border Collie (BC) dog breed is high. The aim of this retrospective study was to describe the phenotype of BCs with IE and assess correlations between phenotypic variables and owner-provided quality ...
Koen M. Santifort +6 more
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Contribution of different etiology factors in fading pregnancy occurrence
Acta Medica Leopoliensia, 2018 Aim. Evaluate the contribution of non-genetic and genetic factors to the occurrence of fading pregnancy at the terms of less / more than 12 weeks of gestation. Material and Methods.
M. Lozynska +4 more
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Serum selenium level and cancer risk: a nested case-control study
Hereditary Cancer in Clinical Practice, 2019 Background Epidemiologic studies have demonstrated a relationship between selenium status and cancer risk among those with low selenium levels. It is of interest to prospectively evaluate the relationship between selenium and cancer among women who ...
Steven A. Narod +15 more
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Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis
European Journal of Case Reports in Internal Medicine, 2022 We present the case of a 53-year-old woman of Portuguese ancestry with a diagnosis of progressive systemic sclerosis (SSc), proposed for haematopoietic stem cell transplantation (HSCT).
Marcia Agostinho Pereira +4 more
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Thrombophilia in young adults with ischemic stroke: an overview
Neurologijos seminarai, 2019 Thrombophilia broadly defines inherited or acquired coagulation disorders associated with increased tendency to form intravascular thrombi. Evaluation for thrombophilia in young patients with cryptogenic stroke is a frequent clinical question.
R. Mineikytė +2 more
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