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genetic

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Book Chapter
Series: Karger eBooks Non-Series Collection
Published: 02 June 2015
10.1159/000375221
EISBN: 978-3-318-03004-4
... Abstract Genetic testing is an important consideration in all congenital heart conditions. Given that congenital heart diseases (CHDs) are disorders of abnormal heart development, it is probable that pathogenic variants in genes that affect early embryonic differentiation and cardiac...
Book Chapter
Published: 22 June 2012
10.1159/000331676
EISBN: 978-3-8055-9650-3
...References References 1. Swiss Academy of Medical Sciences: Genetische Untersuchungen im medizinischen Alltag Basel, Swiss Academy of Medical Sciences (SAMW), 2004;9 2. Burke W: Genetic testing. N Eng J Med 2003;347:1867-1875 3. (eds) Marteau T, Richards M: The Troubled Helix...
Book Chapter
Series: Frontiers of Oral Biology
Volume: 8
Published: 08 February 1991
10.1159/000419438
EISBN: 978-3-318-03690-9
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Book Chapter
Series: Pediatric and Adolescent Medicine
Volume: 21
Published: 11 December 2017
10.1159/000481321
EISBN: 978-3-318-06123-9
... Abstract Genetic testing has become part of routine diagnostics in an increasing number of medical conditions. At the same time, genetic testing methods have entered a high-throughput era, allowing both diagnostics and medical research to address more comprehensive and complex questions...
Book Chapter
Series: Monographs in Human Genetics
Volume: 21
Published: 11 September 2017
10.1159/000477275
EISBN: 978-3-318-06098-0
... Abstract Male and female infertility affects close to 50 million couples worldwide according to a recent World Health Organization estimate. Many of the 25-30% of couples with idiopathic infertility likely have a genetic etiology for their condition. Next-generation sequencing has identified...
Book Chapter
Series: Monographs in Human Genetics
Volume: 21
Published: 11 September 2017
10.1159/000477284
EISBN: 978-3-318-06098-0
... Abstract Spermatogenesis describes a complex multistep differentiation process to produce millions of mature spermatozoa daily. Spermatogenesis is fueled by spermatogonial stem cells. It comprises a variety of unique genetic and epigenetic mechanisms to eventually generate haploid sperm, which...
Book Chapter
Published: 09 May 2017
10.1159/000491299
EISBN: 978-1-910797-50-1
Book Chapter
Series: Frontiers in Diabetes
Volume: 25
Published: 19 April 2017
10.1159/000454702
EISBN: 978-3-318-06025-6
... of respiratory chain diseases led to the investigation of mitochondrial DNA mutations in WS patients. However, mitochondrial mutations and deletions in the mitochondrial DNA have been excluded in more than 20 WS patients [ 17 ]. Genetic mapping and candidate gene approaches have identified the mutated...
Book Chapter
Series: Frontiers in Diabetes
Volume: 25
Published: 19 April 2017
10.1159/000454704
EISBN: 978-3-318-06025-6
... (type 1 diabetes). Type 1 diabetes has been rarely reported in different series of patients affected by the syndrome and especially among Finnish patients. In this chapter we discuss the relevant studies that highlight the peculiar genetic and immunological features that in addition to the effect...
Book Chapter
Series: Current Problems in Dermatology
Volume: 51
Published: 01 September 2016
10.1159/000446757
EISBN: 978-3-318-05905-2
... genetic disorders with dyshidrosis. Various neurohormonal mechanisms regulate sweating. When cutaneous C fibers in a localized area of the skin are activated by an increase in temperature, the preoptic hypothalamus area is activated and provides the stimulation for sweat production. The activated...
Book Chapter
Series: Medicine and Sport Science
Volume: 61
Published: 16 June 2016
10.1159/000445244
EISBN: 978-3-318-03011-2
... Abstract This paper addresses practical and ethical considerations regarding genetic tests to predict performance and/or risk of exercise-related injury or illness. Various people might wish to conduct sport-related genetic tests for a variety of reasons. For example, an individual might seek...
Book Chapter
Series: Frontiers of Hormone Research
Volume: 46
Published: 23 May 2016
10.1159/000443871
EISBN: 978-3-318-05840-6
... Abstract Autoimmune Addison's disease (AAD) is a complex disease that results from the interaction of a predisposing genetic background with still unknown environmental factors. Pathogenic variants in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrine syndrome...
Book Chapter
Series: Monographs in Human Genetics
Volume: 20
Published: 26 April 2016
10.1159/000444564
EISBN: 978-3-318-05856-7
... Abstract Tremendous progress has been made over the past 25 years in identifying genes responsible for nonsyndromic or syndromic deafness. However, clinical challenges remain that limit the number of patients for whom a genetic etiology can be determined. This chapter will address...
Book Chapter
Series: Monographs in Human Genetics
Volume: 20
Published: 26 April 2016
10.1159/000444599
EISBN: 978-3-318-05856-7
... Abstract Hereditary hearing loss is a classic genetically heterogeneous condition with nearly 100 nonsyndromic hearing loss genes currently described and many more awaiting discovery. Priorities in the field with potentially rapid clinical application are the identification of all genes...
Book Chapter
Series: Monographs in Human Genetics
Volume: 20
Published: 26 April 2016
10.1159/000444566
EISBN: 978-3-318-05856-7
..., there are genetic modifiers that can play a pivotal role in modulating the severity and/or the rate of hearing loss. In vertebrates including humans, genetic modifiers have been identified that affect hearing ability. Further characterization of these enhancers and suppressors of mutated genes associated...