geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Dna diagnosis of monogenetic diseases


, : Dna diagnosis of monogenetic diseases. Zeitschrift fuer Klinische Medizin (Berlin) 46(8): 597-602

An account is given in this paper of the most common diagnostic methods in molecular genetics together with their potential benefits and disadvantages. Recent developments in molecular analysis are described together with possible diagnostic approaches by examples of selected genetic diseases.

US$29.90


Other references

Daczkowska-Kozon, Elzbieta., 1988: Preliminary surveys on the lactic acid bacteria occurrence in the Baltic Sea fishes. Acta Ichthyologica et Piscatoria, 182: 91-96

Wagner, C.; Briggs, W.T.; Cook, R.J., 1985: Inhibition of glycine n methyltransferase ec 2.1.1.20 activity by folate derivatives implications for regulation of methyl group metabolism. Glycine N-methyltransferase, an enzyme that uses S-adenosylmethionine to methylate glycine with the production of sarcosine, was recently shown to be identical with a major folate binding protein of rat liver (Cook et Wagner (1984)). Evidence that...

Stepke, M.T.; Schwenzer, N.; Eichhorn, W., 1994: Vasoconstrictors during pregnancy: In vitro trial on pregnant and nonpregnant mouse uterus. In an in vitro trial on 80 pregnant and nonpregnant mice, the sensitivity of the uterus myometrium to the vasoconstrictors vasopressin, ornipressin, epinephrine, and norepinephrine was examined in comparison with oxytocin as a standardized stimula...

Beacham, T D.; Varnavskaya, N.; Mcintosh, B.; Macconnachie, C., 2006: Population structure of sockeye salmon from Russia determined with microsatellite DNA variation. The population structure of sockeye salmon Oncorhynchus nerka from Russia was determined from a survey of the variation of 14 microsatellite loci among approximately 3,750 sockeye salmon from 56 populations. The populations from Avacha Bay and the...

Laurino, S.; Grossi, G.; Pucci, P.; Flagiello, A.; Bufo, S.Aurelio.; Bianco, G.; Salvia, R.; Vinson, S.Bradleigh.; Vogel, H.; Falabella, P., 2016: Identification of major Toxoneuron nigriceps venom proteins using an integrated transcriptomic/proteomic approach. Endoparasitoids in the order Hymenoptera are natural enemies of several herbivorous insect pest species. During oviposition they inject a mixture of factors, which include venom, into the host, ensuring the successful parasitism and the developmen...

Pelander, A.; Decker, P.; Baessmann, C.; Ojanperä, I., 2011: Evaluation of a high resolving power time-of-flight mass spectrometer for drug analysis in terms of resolving power and acquisition rate. Liquid chromatography time-of-flight mass spectrometry (LC-TOFMS) is applied increasingly to various fields of small molecule analysis. The moderate resolving power (RP) of standard TOFMS instruments poses a risk of false negative results when com...

Schroeder, C.A., 1951: Shoot growth in citrus. Descriptions are given of the 2 kinds of node in citrus, namely leaf node and growth node separating growth flushes, the variability of growth flushes, shoot-length growth, which results from a sequence of flush growths from false terminal buds, p...

Tian, Z.; Hwang, T.; Kuang, R., 2010: A hypergraph-based learning algorithm for classifying gene expression and arrayCGH data with prior knowledge. Incorporating biological prior knowledge into predictive models is a challenging data integration problem in analyzing high-dimensional genomic data. We introduce a hypergraph-based semi-supervised learning algorithm called HyperPrior to classify...

Gambaro, V.; Dell'Acqua, L.; Fare, F.; Froldi, R.; Saligari, E.; Tassoni, G., 2002: Determination of primary active constituents in Cannabis preparations by high-resolution gas chromatography/flame ionization detection and high-performance liquid chromatography/UV detection. For a complete quantitative analysis of primary active constituents in Cannabis preparations Delta 9-tetrahydrocannabinol (THC), cannabidiol (CBD) and cannabinol (CBN), we have compared two different chromatographic techniques, high-resolution gas...

Kumazawa, N.H.; Hori, K.; Fujimori, K.; Iwade, Y.; Sugiyama, A., 1999: Geographical features of estuaries for neritid gastropods including Clithon retropictus to preserve thermostable direct hemolysin-producing Vibrio parahaemolyticus. Seven neritid gastropods from 8 rivers in Okinawa Prefecture and from 1 river in Kagoshima Prefecture, Japan were examined for thermostable direct haemolysin (TDH)-producing V. parahaemolyticus between July 1996 and May 1998. No TDH-producing V. p...