Results 211 to 220 of about 632,786 (261)
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Clinical mitochondrial genetics
Journal of Medical Genetics, 1999The last decade has been an age of enlightenment as far as mitochondrial pathology is concerned. Well established nuclear genetic diseases, such as Friedreich’s ataxia,1 2 Wilson disease,3 and autosomal recessive hereditary spastic paraplegia,4 have been shown to have a mitochondrial basis, and we are just starting to unravel the ...
P F, Chinnery +3 more
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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
W M, Nehring, S A, Faux
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Acta geneticae medicae et gemellologiae, 1961
The Committee of the Xth International Congress of Genetics had the excellent idea of acquainting the public of Montreal, Canada, with the practical utility of Genetics by organising a Public Exhibition under the slogan of: “Genetics in the Service of Man”. If we were to choose a slogan that would best summarise our work at this Conference,
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The Committee of the Xth International Congress of Genetics had the excellent idea of acquainting the public of Montreal, Canada, with the practical utility of Genetics by organising a Public Exhibition under the slogan of: “Genetics in the Service of Man”. If we were to choose a slogan that would best summarise our work at this Conference,
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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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Clinical and Genetic Aspects of Phaeochromocytoma
Hormone Research in Paediatrics, 2003Phaeochromocytoma is a tumour of the adrenal medulla, which, although rare, is a major cause of correctable hypertension with a prevalence of 0.1–0.5% in the hypertensive population. Clinical symptoms include attacks of paroxysmal headache, sweating, palpitations, stress and a sense of imminent death.
OPOCHER, GIUSEPPE +4 more
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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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Skin Pigmentation Genetics for the Clinic
Dermatology, 2017Human pigmentation characteristics play an important role in the effects of sun exposure, skin cancer induction and disease outcomes. Several of the genes most important for this diversity are involved in the regulation and distribution of melanin pigmentation or enzymes involved in melanogenesis itself within the melanocyte cell present in the skin ...
Ainger, Stephen A. +4 more
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Clinical Genetics for the Pulmonologist: Introduction
Respiration, 2005International ...
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An overview of clinical molecular genetics
Molecular Biotechnology, 1997Clinical molecular genetics has only recently become recognizable as a diagnostic discipline in its own right-gradually becoming distinct from its academic-and research-based origins. This chapter seeks to give some shape and context to the contrtbutions that follow and add to previously published ideas of how diagnostic laboratories are structured and
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Pediatrics, 1954
Application of genetic theory to clinical situations must always remain, in a sense, unfinished business. In the nature of the circumstances it is impossible, and presumably will always remain impossible, to prove that a given trait is transmitted from man to man by the intervention of genes. The closest one can come to proof is to demonstrate that the
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Application of genetic theory to clinical situations must always remain, in a sense, unfinished business. In the nature of the circumstances it is impossible, and presumably will always remain impossible, to prove that a given trait is transmitted from man to man by the intervention of genes. The closest one can come to proof is to demonstrate that the
openaire +2 more sources