By Eric Engel, Stylianos E. Antonarakis
ISBN-10: 0471221937
ISBN-13: 9780471221937
Eric Engel and Stylianos Antonarakis have written the main authoritative and important reference on molecular and medical facets of uniparental disomy (UPD) and genomic imprinting to this point. Genomic Imprinting and Uniparental Disomy in drugs positive aspects accomplished overviews of a mess of genetic problems associated with UPD, with a robust emphasis on scientific outcomes. This e-book will offer readers with the instruments essential to determine and deal with illnesses linked to nontraditional chromosomal inheritance. Genomic Imprinting and Uniparental Disomy in medication positive aspects convenient tables summarizing medical phenotypes and chromosomal involvement in UPD, in addition to transparent illustrations on imprinting mechanisms and diagnostic checking out. This authoritative, thoroughly up to date functional reference should be necessary for any scientific geneticist, genetic counselor, health care provider, or researcher encountering sufferers with such issues or learning complicated affliction mechanisms.
Read Online or Download Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects PDF
Similar basic science books
Get Facilitating the Genetic Counseling Process: A Practice PDF
Designed as an reduction to scholars in Genetics counseling periods and execs attracted to honing their talents, Facilitating the Genetic Counseling strategy will advisor the reader in the course of the why's and how's of helping consumers with those complicated concerns. The authors' collective years of either instructing scholars and counseling consumers is mirrored within the transparent, useful process of this handbook.
Download PDF by Ingrid Schoon: Risk and Resilience: Adaptations in Changing Times
What elements let participants to beat antagonistic childhoods and circulate directly to lucrative lives in maturity? Drawing on facts accumulated from of Britain's richest examine assets for the learn of human improvement, the 1958 nationwide baby improvement research and the 1970 British Cohort examine, Schoon investigates the phenomenon of 'resilience' - the facility to regulate definitely to hostile stipulations.
J. D. Truwit, S. K. Epstein's Practical Guide to Mechanical Ventilation PDF
A brand new, case-oriented and functional consultant to 1 of the middle innovations in breathing drugs and important care. Concise, sensible reference designed to be used within the severe care settingCase-oriented content material is organised in response to in general encountered scientific scenariosFlow charts and algorithms delineate acceptable therapy protocols
Download PDF by Daryl S. Paulson: Biostatistics and Microbiology: A Survival Manual
Biostatistics and Microbiology allows the reader to entry and follow statistical equipment that commonly frustrate and intimidate the uninitiated. information, like chemistry, microbiology, woodworking, or stitching, calls for that the person placed it slow into studying the techniques and strategies. This publication offers a step by step demeanour that removes the best challenge to the learner, that is using the numerous methods that include a statistical approach.
- Research Advances in Rabies
- Desk Reference for Hematology
- Kendig and Chernick’s Disorders of the Respiratory Tract in Children
- The Biology of Musical Performance and Performance-Related Injury
- Hormones, Lipoproteins and Atherosclerosis. Advances in Physiological Sciences
- Trichloroethylene: Toxicity and Health Risks
Extra info for Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects
Example text
There exist several types of DNA polymorphisms. (i) Single nucleotide polymorphisms (SNP). , 2001). Millions of SNPs exist in the human genome and could be detected by several methods (Dean, 1995). The sequence of the human genome revealed 13 14 DETECTION OF UNIPARENTAL DISOMY AND IMPRINTING BY DNA ANALYSIS more than a million of potential SNPs. , 2001). gov=SNP=>. , there exist two different alleles in the population. , 1980). (ii) Variable number of short sequence repeats (SSR) or microsatellites.
L. and Wallace, R. B. Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides. Proc Natl Acad Sci U S A 80:278–282, 1983. Cotton, R. , Rodrigues, N. R. and Campbell, R. D. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci U S A 85:4397–4401, 1988. Dean, M. Resolving DNA mutations [news]. Nat Genet 9:103–104, 1995. Delach, J. , Rosengren, S.
Unmodified, cytosines and therefore their PCR product is only maternal-specific since these oligonucleotides do not bind the modified DNA. , modified, cytosine to uracil residues. Their PCR product is only paternalspecific since these oligonucleotide primers do not bind the unmodified DNA. The paternal or maternal allele-specific amplification is recognized by the specific size of the PCR amplification product. In PWS patients, a maternal methylation PCR pattern is only observed, either because there is a deletion of the paternally derived allele or an abnormal, maternal-type methylation status of the paternal allele.
Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects by Eric Engel, Stylianos E. Antonarakis
by David
4.2