Results 371 to 380 of about 9,771,651 (424)
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Genetic imprinting in clinical genetics
Development, 1990ABSTRACT Genetic, and indeed genomic, imprinting does occur in humans. This is manifest at the level of the genome, the individual chromosome, subchromosomal region or fragile site, or the single locus. The best evidence at the single gene level comes from a consideration of familial tumour syndromes.
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Mosaicism and clinical genetics
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014With the introduction of increasingly sensitive technologies for mutation detection such as chromosomal microarrays and next‐generation sequencing, the importance of mosaicism for human disease is being more fully appreciated. Mosaicism can occur for any type of mutation, either at the chromosomal or DNA sequence level, and while in many cases ...
Nancy B. Spinner, Laura K. Conlin
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Clinical Genetics: An Overview
The Journal of Cardiovascular Nursing, 1999It is imperative that clinicians understand basic human genetic concepts. In this article, the patterns of inheritance for single gene disorders are described and include the traditional Mendelian, nontraditional, and multifactorial patterns. Next, chromosomal and structural abnormalities are described, followed by a description of the current measures
Sandra A. Faux, Wendy M. Nehring
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The Lancet, 1971
Abstract The first genetic clinic in the British Isles was established at the Hospital for Sick Children in 1946. Patients are referred to this clinic by family doctors, consultants, and local-authority medical officers. The paper reports a follow-up from 3 to 10 years later of 455 couples seen at this clinic from 1952 to 1964.
Cedric Carter+3 more
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Abstract The first genetic clinic in the British Isles was established at the Hospital for Sick Children in 1946. Patients are referred to this clinic by family doctors, consultants, and local-authority medical officers. The paper reports a follow-up from 3 to 10 years later of 455 couples seen at this clinic from 1952 to 1964.
Cedric Carter+3 more
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The Clinical Genetics of Psoriasis
Current Genomics, 2005Psoriasis is a common chronic inflammatory disease of the skin affecting approximately 2% of Caucasians. Psoriasis has a worldwide distribution, with prevalence varying according to race and geographic location. Numerous population-, family- and twin-based studies point to a very strong genetic component of this disease. Psoriasis is a complex disease,
Campalani, E, Barker, J N W N
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Blood Coagulation and Fibrinolysis, 1990
Protein C (PC) is the central component of a major antithrombotic regulatory system with both anticoagulant and profibrinolytic properties. A deficiency of PC is one of several hereditary abnormalities of haemostatic proteins that have been described in ...
Marlar Ra, S. Mastovich
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Protein C (PC) is the central component of a major antithrombotic regulatory system with both anticoagulant and profibrinolytic properties. A deficiency of PC is one of several hereditary abnormalities of haemostatic proteins that have been described in ...
Marlar Ra, S. Mastovich
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European Journal of Cancer, 1996
There has been a huge increase in interest in genetic predisposition to cancer since the localisation and finally isolation of genes predisposing to bowel, breast and ovarian cancer [ 141. Although up to 10% of these cancers have a strong familial element, it is only possible to identify a definite dominant pattern of inheritance in approximately 1% of
Evans, D G, Cuzick, J, Howell, A
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There has been a huge increase in interest in genetic predisposition to cancer since the localisation and finally isolation of genes predisposing to bowel, breast and ovarian cancer [ 141. Although up to 10% of these cancers have a strong familial element, it is only possible to identify a definite dominant pattern of inheritance in approximately 1% of
Evans, D G, Cuzick, J, Howell, A
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ATR-X syndrome: genetics, clinical spectrum, and management
Human Genetics, 2021Nayla Y León, V. Harley
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The Clinical Genetics of Lupus
Lupus, 1992Genetic aspects of lupus are reviewed, including recognition of genetic and clinical heterogeneity, genetic factors in the aetiology and heritability of disease, reproductive implications and genetic counselling of patients. Despite a large literature on the genetic epidemiology and immunogenetics of lupus, it remains difficult to apply the results of
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Autism and genetics: clinical approach and association study with two markers of HRAS gene.
American journal of medical genetics, 1995Twin studies and familial aggregation studies indicate that genetic factors could play a role in infantile autism. In an earlier study, we identified a possible positive association between autism and a c-Harvey-ras (HRAS) oncogene marker at the 3' end ...
J. Hérault+10 more
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