Results 241 to 250 of about 7,785,903 (293)

Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening. [PDF]

J Community Genet
Hansen CA, Reiter AW, Wildin RS.
europepmc   +1 more source

[Genetics in clinical hematology. I. The principles of clinical genetics].

Acta haematologica Polonica, 1988
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Concerns regarding the safety and efficacy of ES-Cu-Captisol for Menkes disease. Reply.

The Journal of Clinical Investigation
Vishal M. Gohil, Michael J. Petris, Francesc Palau   +2 more
doaj   +1 more source

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Mosaicism and clinical genetics

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014
With 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 mitochondrial genetics

Journal of Medical Genetics, 1999
The 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, N, Howell, R M, Andrews, D M, Turnbull   +3 more
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Clinical Genetics: An Overview

The Journal of Cardiovascular Nursing, 1999
It 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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Clinical Genetics

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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Genetic imprinting in clinical genetics

Development, 1990
ABSTRACT 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, 2003
Phaeochromocytoma 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, SCHIAVI F., CONTON P., SCARONI, CARLA, MANTERO, FRANCO   +4 more
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The Clinical Genetics of Lupus

Lupus, 1992
Genetic 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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