Category – Clinical Genetics

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ABC of clinical genetics. Genetics of cancer.

Pigmentation of lips in Peutz-Jeghers syndrome. Development of cancer is related to both environmental carcinogens and genetic predisposition. Though the risk of a common cancer occurring in relatives ofan affected person is generally low, familial aggregations that cannot be explained by environmental factors alone exist in some O neoplasms, such as breast and ovarian cancers and melanomas. In...

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Pneumoviruses: Molecular Genetics and Reverse Genetics

Pneumoviruses are responsible for significant respiratory disease in their hosts and represent a major problemfor human and animal health. Pneumoviruses are members of the family Paramyxoviridae, subfamilyPneumovirinae and the virus particles consist of a negative-sense, nonsegmented RNA genome within a helical nucleocapsid structure enveloped in a lipid membrane derived from the ho...

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New Clinical Genetics

www.ums.ac.uk The book details many more cases, including that of Maria Whiston – the “insulin between the toes” trial. By far the most disturbing, however, is that of the notorious Beverly Allitt. Marks gives a first-hand account of how he became involved in the Allitt case in 1991 and lends a fascinating insight into how the case against her was gradually built. The actual details of the case...

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Genetics and clinical enzymology.

A large number of inherited disorders-the socalled inborn errors of metabolism-in which the characteristic metabolic and clinical abnormalities can be attributed to specific genetically determined deficiencies of particular enzymes, have now been identified: and new examples are currently appearing in the literature at a remarkable rate. Furthermore studies in vitro of the enzyme defect, as it ...

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Clinical genetics of melanoma

Malignant melanoma (MM) represents one of the most aggressive neoplasms and its frequency is increasing rapidly. Increased melanoma risk among relatives of MM patients and familial aggregations of this malignancy point at genetic predisposition as an important factor of MM pathogenesis. The genetic basis of MM is complex and appears to involve multiple genes. CDKN2A is regarded as the major MM ...

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ژورنال

عنوان ژورنال: Bjog: An International Journal Of Obstetrics And Gynaecology

سال: 2021

ISSN: ['1470-0328', '1471-0528']

DOI: https://doi.org/10.1111/1471-0528.2_16715