GENETICS 20133 Milano. Italy. labanof@tin.it. OC5 DAY FRIDAY 8 th TIME10.2510.35 CENTRALACHROMATOPSIA AFTER WHIPLASH INJURY. Grimaldi L. Instituto di Medicina Legale. http://www.usc.es/imlus/doc/oral.htm
Extractions: Authors are requested to contact the slide check-in centre at least 15 min before presentation. Facilities for double projection, overhead projections and power point presentations will be provided. The Congress will be held in the Faculty of Medicine (c/San Francisco s/n) Santiago de Compostela. The registration desk will be open from Tuesday, 5th at 16.00. Prof. Angel Carracedo OG1 DAY: THURSDAY 7 th TIME: 9.45-9.55 MEGAPLEX ANALYSIS OFICED HUMAN REMAINS FROM THE BERREL SITE (200-300 BC, KAZAKHSTAN) Clisson I, Keyser C, Francfort H.P, Crubezy E, Ludes B Inl@iml-ulp.u-strasbg.gc OG2 DAY: THURSDAY 7 th TIME: 9.55-10.05 MtDNA MUTATIONS IN PEDIGREES FROM THE ELEVATED NATURAL RADIOACTIVITY AREAS OF KERALA Forster L, Brinkmann B Apimllar@uscmail.usc.es
MedWebPlus Subject Diseases And Conditions Hereditary Diseases A, , GO, Center for Inherited Disease Research (CIDR) a centralized facilityestablished to provide genotyping and statistical genetics services for http://www.medwebplus.com/subject/Diseases_and_Conditions/Hereditary_Diseases?oc
Genetic Disorders of Genetic Disorders Also consult your textbook, Applied genetics, Chapter 27 AchromatopsiaAchromatopsia Home Page one-stop shopping for information on this http://www.wtps.org/wths/imc/Teacher_Assignment/science/renner genetic disorders
Blue Cone Monochromats The photoreceptors in atypical achromatopsia. Journal of Physiology, 417, 123149. Moleculargenetics of human blue cone monochromacy. Science, 245, 831-838. http://cvrl.ioo.ucl.ac.uk/database/text/intros/introbmono.htm
Extractions: , who concluded that they had rods and S-cones, but lacked M- and L-cones. Though two studies suggested that blue-cone monochromats might also possess a second cone type containing the rod photopigment Pedigree studies show that blue-cone monochromacy is an X-linked recessive trait (e.g., Falls, 1960; Spivey, 1965) . A molecular genetic analysis of the M and L-cone photopigment gene array on the X-chromosome of blue-cone monochromats shows that the deficit can arise for a number of different reasons, including deletions, or loss of function due to homologous recombination and point mutation (Nathans et al., 1989; Nathans et al., 1993) Spectral sensitivities in "classic" blue-cone monochromats have been measured several times before ( , and are typical of the S-cones. A concern about the use of blue-cone monochromats to obtain a standard S-cone spectral sensitivity for central vision, however, is that they usually fixate extrafoveally (but there are exceptions, see Hess et al., 1989). Consequently, in order to use blue-cone monochromats to estimate normal S-cone spectral sensitivity, it is necessary to estimate their macular and photopigment optical densities, and, if necessary, correct them to normal density values. Moreover, some individuals in pedigrees with blue-cone monochromacy reveal residual L-cone function if large or even small test fields are used
Extractions: This 10 page paper is a request for a proposal form vendors to install a communication technology within a hospital. The documents is an example of how an RFP should be formatted, with information abut the establishment, the proposal for the project and proposed time schedules, a questionnaire and some vendor examples. The bibliography cites 4 sources. A 25 page proposal to evaluate the efficacy of insulin pump therapy verses that of magnetic release polymer therapy for Type I Diabetes Mellitus. Provides a review of the literature and presents the hypothesis that insulin pump therapy will perform either equivalently to or superior to magnetic polymer delivery systems for insulin delivery. Suggests experimental methodology for testing this hypothesis and supports the contention that this performance can be judged through a comparison of HbA1c values, body mass index (BMI), and hypoglycemic episodes before and after initiation of therapy with data provided in the literature. Includes an extensive discussion of the advantages and disadvantages of each type of treatment methodology. Bibliography lists 15 sources.
Extractions: A 30 page paper discussing separately factors affecting the mortality rates of heart disease and cancer, then comparing lifestyle factors that can apply to both in reducing those mortality rates. Cardiovascular disease is the nation's number-one killer; cancer comes in at number two. Risk factors for cardiovascular disease are more controllable from the individual's point of view than are those of cancer, which includes several life events and conditions over which the individual has no control. Those most at risk in the US are the poor, and particularly the poor minorities. For either cardiovascular disease or for cancer, early detection is the most effective of all control measures. Bibliography lists 30 sources.
Rare Diseases List - Office Of Rare Diseases Rare Diseases List. Home Site Index Help, etc. Info Trials Support Travel GeneticsResources News, etc. achromatopsia. achromatopsia incomplete, Xlinked. http://ord.aspensys.com/diseases.asp
Extractions: An orphan or rare disease is generally considered to have a prevalence of less than 200,000 affected individuals in the USA. Certain diseases with more than 200,000 affected individuals are included but subpopulations of these conditions may be less than the prevalence standard for rare disease. This list includes rare diseases and conditions for which information requests have been made to the Office of Rare Diseases. It is updated on a regular basis. We welcome suggestions for additions to the list and your recommendations may be sent via email to: ord@od.nih.gov Please Note: The names of the conditions (listed in alphabetical order) may not necessarily be the most frequently used ones. Clicking on one of the names below will take you to a page that contains information specific for that disease. The links on that page will take you to several sources of information, including: ClinicalTrials.gov, an NIH site that lists ongoing clinical trials; Online Mendelian Inheritance in Man (OMIM), an NIH site authored and edited by Johns Hopkins University, with information on specific genetic diseases; and
More From OptiGen Canine CNGB3 mutations establish cone degeneration as orthologous to the humanachromatopsia locus ACHM3. Human Molecular genetics 9(4)5317, 2000. http://www.optigen.com/opt_page.taf?page=more4
