Extractions: from heart smoking health information parkinsons cure diseases bowel cat in inflammatory atoz health medical errors medical libraries pleasant hope teen drug health nook alaska department health services social health information akins food health risk crestview cellular atoz health health risk terminal illness fact uk medical service center colorado control health risk health risk cellular health test nevi see nevus conditions product recall health care provider von hippel-lindau syndrome health test burger king information hhs fruit guide pedestrian health education health care los angeles county department of mental health ctr general atoz health health care provider jeremy todd spa salon womens health childhood hodgkins smoking program public health fitness aquatic center freedom blue eye atoz health acute liver health risk fast food unhealthy house online late lyme stage medicaid journal professional long term care atoz health center lifeworks wellness coronary artery treatment office on health optimum creatine hhs medical errors dyslexia long term care indigestion conditions index infectious health fact food mcdonalds company disease nevus medical research lerna calculator heart risk conditions salvisa diseases peripheral smoking vascular jarbidge alliance human services canada house department of health
HUM GEN REPORTS Alzheimer s disease genetics, Garvin, Cheryl, Wesley, Dawn, Achondroplasia,Maxwell, Kelly (11/30), achromatopsia, Alpha1 Antitrypsin Deficiency, http://a-s.clayton.edu/hampikian/1901H/REPORTS1999/_GeneticDiseaseList.html
Extractions: THIS IS A STUDENT REPORT AND MAY CONTAIN INACCURACIES. IF YOU WISH TO QUOTE FROM IT YOU MUST GET THE WRITTEN PERMISSION OF DR. GREG HAMPIKIAN greghampikian@mail.clayton.edu I. Disease Name, by Your Name II. Chromosomal Location III. Type of inheritance (for example, sex-linked, autosomal dominant, mitochondrial...) IV. Incidence Note any special distributions (racial, sexual, geographical etc.) V. Symptoms. Make sure that you state the most common symptoms first. Whenever possible indicate in what % of patients each syndrom is found. VI. Metabolic causes of the symptoms VII. Treatments VIII. Latest research Summarize at least two new studies on your disease. The best way to get articles about your disease is through "Medline" which is available from the Galileo databases. (Copy the abstarcts for section XII.) IX. A ten question quiz with answers at the bottom. X. Bibliography
Extractions: Dictionaries: General Computing Medical Legal Encyclopedia Word: Word Starts with Ends with Definition Color blindness is the inability to perceive differences between some or all colors For alternate meanings, see color (disambiguation). Color (American English) or colour (most other variants of English, including British English, New Zealand English and Australian English) is a sensation caused by light as it interacts with the eye, brain, and our experience. The perception of color is also greatly influenced by nearby colors in the visual scene. The term color is also used for the property of objects that gives rise to these sensations. Click the link for more information. that other people can distinguish. It is most often of genetic The word " gene " is shared by many disciplines, including whole organism-based or classical genetics, molecular genetics, evolutionary biology and population genetics. It has multiple uses within each of these contexts, but in the primary sense, genes are material things that parents pass to offspring during reproduction; these things encode information essential for the construction and regulation of polypeptides, proteins and other molecules essential for the growth and functioning of the organism. This sense, which is common to all of the above disciplines, is also the original historical meaning of gene.
Hum. Mol. Genet. -- Arbour Et Al. 6 (5): 689 Human Molecular genetics, Pages 689694, Homozygosity mapping of achromatopsia tochromosome 2 using DNA pooling Introduction Results Exclusion of chromosome 14 http://hmg.oupjournals.org/cgi/content/full/6/5/689
Extractions: References Nancy C. Arbour Joel Zlotogora Robert G. Knowlton Saul Merin Ada Rosenmann Adam B. Kanis Tatiana Rokhlina Edwin M. Stone and Val C. Sheffield Department of Pediatrics and Department of Ophthalmology, University of Iowa, Iowa City , IA 52242, USA Department of Human Genetics and Department of Ophthalmology, Hadassah Medical Center, Jerusalem Israel and Thomas Jefferson University
Hum. Mol. Genet. -- Search Result Advance Access published on August 27, 2003 Human Molecular genetics 2003 12 establishcone degeneration as orthologous to the human achromatopsia locus ACHM3. http://hmg.oupjournals.org/cgi/search?qbe=hmg;ddg348&journalcode=hmg&minscore=50
HUM-MOLGEN Archive: LITE: Human Molecular Genetics 06:05 (fwd) Simply go to the Human Molecular genetics home page at http//www.oup Rokhlina,EM Stone and VC Sheffield Homozygosity mapping of achromatopsia to chromosome http://www.hum-molgen.de/mail-archive/1997-Mar/msg00010.html
Extractions: Human Molecular Genetics Issue 06:05, May 1997 Oxford University Press ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ========================================== CONTENTS ========================================== NOTES: 1. Tables of contents for Human Molecular Genetics from May 1995 to the latest issue can be found on the HUM-MOLGEN web site at:- http://www.informatik.uni-rostock.de/HUM-MOLGEN/journals/HMG/ 2. Abstracts for the papers listed below will shortly be available at the Oxford University Press World Wide Web site. Simply go to the Human Molecular Genetics home page at:- http://www.oup.co.uk/hmg/
Human Molecular Genetics: May 1997 (Volume 6, No 5) Rokhlina, EM Stone and VC Sheffield Homozygosity mapping of achromatopsia to chromosome HumanMolecular genetics is a monthly journal of original peerreviewed http://www.hum-molgen.de/journals/HMG/0034.html
Atlas Of Genetics And Cytogenetics In Oncology And Haematology Houston Mercy Hospital, Watertown, NY and Department of Medical genetics, Universityof Complete congenital achromatopsia (rod monochr.), 14 mat, Pentao et al. http://www.infobiogen.fr/services/chromcancer/IntroItems/UnidisomyEnglID30030EL.
Extractions: In fact, the information on this subject has grown so large that Pub Med, the webb-site of the US National Library of Medecine, by now lists over 550 original titles not to mention the so-call related articles. In the bulk of this material. I particulary like to stress the elegant contributions from Prs Lidia Larizza, Orsette Zuffardi and their colleagues on the role of parental chromosome 15 inversions in subsequent segmental deletions of that chromosome and their study of UBE3A mutations in AS. I also want to mention the wealth of information and observations that we owe to Pr A Schinzel and his group and to Dr Dietrich Kotzot in this area. Lidia, Albert, I thank you whole-heartedly, as well as the Organizing Committee and Dr Konstantin Miller for inviting me to address the Audience of this select ECA Meeting in Bologna. Thank you, indeed for your hospitality. Slide 1 I thus started in the field at this most exciting period wich I call the Golden Years. Within two of these years, 1959 and 1960, the three major autosomal trisomies, G, E, and D, namely 21, 18 and 13 turned up along with three of the four more common sex chromosome anomalies. XXY, XXX, XO (the XYY would appear later), plus the first example of human chromosome mosaicism.
CVNet: CVNet - Postdoc; Genetics Of Photoreceptors; Tuebingen and aquired retinal disorders (eg, Xchromsome-linked colourblindness, achromatopsia). Recentpublications include Nature genetics (1998, 19, 257-259) and http://www.visionscience.com/mail/cvnet/1999/0127.html
Extractions: A postdoctoral position (c. DM 70,000.00; BAT IIA) is available from 1 April 1999 in the Department of Experimental Ophthalmology. The position is within a Project (A6) Genotyping and Phenotyping of Human Cone Photoreceptors within a DFG Special Research Project (SFB 430) Cellular mechanisms of sensory processes and neuronal interaction. The group investigates the human visual system with psychophysical methods. The emphasis is on the biophysical properties of the photoreceptors. In order to correlate our results with photoreceptoral and neuronal processes, we collaborate closely with molecular biological (Dr Bernd Wissinger), electrophysiological (PD Dr Jan Kremers) and psychophysical (PD Dr Karl Gegenfurtner) research groups in Tübingen and in Great Britain, The Netherlands and the United States.
Naxa Directory - Health > Conditions & Diseases > > Genetic_Disorders Categories. Achondroplasia (0). achromatopsia (0). GeneTests Home Page GeneticAlliance, Inc. - The definitive resource for reliable genetics information. http://www.naxa.com/Health/Conditions_and_Diseases/Genetic_Disorders/
MMGStaff Profiles CA, P. Gissen, C. Sergi, (2003) Molecular pathology and genetics of congenital Mappingof a novel locus for achromatopsia (ACHM4) to 1p and identification of http://medweb4.bham.ac.uk/rch/DivInfo/MMGProf.html
Blind World - Disease-specific Organizations. Seeks to promote awareness and education about achromatopsia. Funds researchon the molecular genetics of glaucoma and on optic nerve regeneration. http://www.home.earthlink.net/~blindworld/LINKS/disease.htm
Suzanne M. Leal, Ph.D. prion disease, epilepsy, cystinosis, Parkinson s disease, schizophrenia and achromatopsia. Iteach courses in statistical genetics\genetic epidemiology http://imgen.bcm.tmc.edu/molgen/facultyaz/leal.html
Extractions: Last modified: July 2003 Research Interests Selected Publications Contact Information Research Interests: My interest in statistical genetics/genetic epidemiology lies in the mapping of complex and Mendelian traits and understanding the interactions between genes and between genes and the environment. In addition to applied work of localizing disease loci through statistical genetic methods, I am interested in methodological research. On the applied side, I have been involved in the study of a variety of disease phenotypes including: retinitis pigmentosa, lebers congenital amaurosis, prion disease, epilepsy, cystinosis, Parkinson's disease, schizophrenia and achromatopsia. I am currently working on several mapping projects that include: migraine, obesity, drug addiction and non-syndromic hearing loss. A variety of statistical genetic methods are implemented to analyze the data including parametric and non-parametric linkage analysis and statistical methods for association studies.
The FHCRC Dog Genome Project: References GM, Ostrander EA (2002) Canine CNGB3 mutations establish cone degeneration as orthologousto the human achromatopsia locus ACHM3. Human Molecular genetics 11(16 http://www.fhcrc.org/science/dog_genome/references.html
Extractions: Canine Genome Research: References M ost of this list is comprised of papers that include research by the FHCRC Dog Project. We aim to include other important Canine mapping and genomics papers, so if there's a reference you don't see that you think should be here, please let us know at cgp@fhcrc.org References are grouped into sections below. Click the title below to proceed to the section. Canine Genetic Structure and Phylogeny Breen M., Jouquand S., Renier C., Mellersh C.S., Hitte C., Holmes N.G., Cheron A., Suter N., Vignaux F., Bristow A.E., Priat C., McCann E., Andre C., Boundy S., Gitsham P., Thomas R., Bridge W.L., Spriggs H.F., Ryder E.J., Curson A., Sampson J., Ostrander E.A., Binns M.M., and Galibert F. (2001). Chromosome-Specific Single-Locus FISH Probes Allow Anchorage of an 1800-Marker Integrated Radiation-Hybrid/Linkage Map of the Domestic Dog Genome to All Chromosomes.
Eye Disorders - 404 Of The Best Sites Selected By Humans Medical genetics X-linked Recessive Color_Blindness achromatopsia -Incomplete andComplete achromatopsia -Low Vision Sunglasses -The achromatopsia Group -The http://www.cbel.com/eye_disorders/
Genome Biology | Full Text | A Second Gene For Color Blindness cGMPgated channel are responsible for achromatopsia (ACHM3) linked to Subject areasNeurobiology, genetics, Medicine, Physiology, Cell biology Reported by http://genomebiology.com/2000/1/5/reports/0074
Extractions: Analysis of families suffering from total color blindness has revealed one potential cause of the condition - mutations in a gene encoding a subunit of the retinal cone cGMP-gated ion channel. Mutations in the gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia ( ) linked to chromosome 8q21.
Egill Hansen (www.whonamedit.com) With Ingegerd Frøyshov Larsen and Kåre Berg. Clinical genetics, Copenhagen, 1978,13 190200. Clinical aspects of achromatopsia. Chapter 9, pages 316-334. http://www.whonamedit.com/doctor.cfm/1739.html
Current Research / Aktuelle Forschungsschwerpunkte We describe the mutations causal for complete achromatopsia in Kohlet al., (1998) Nature genetics, 19, 257259. Kjer Type Autosomal http://www.uak.medizin.uni-tuebingen.de/depii/groups/molgen/project.htm
Extractions: The introduction of defined modifications at a genomic level by gene targeting has become a widely used technique. Homologous recombination is used to generate mouse strains with such modifications. These genetically modified animals allow simple questions to be asked about elaborate and complex biological systems. The animal model takes two forms; the transgenic, where additional genetic material is introduced, and the 'knock-out', where the animal lacks a single gene product, or exhibits altered regulatory properties. The gene 'knock-out' mouse acts as a living laboratory for the analysis of mutant genes. The interaction of abnormal, mutant versions of proteins within the retinal cells can be studied. The mouse model permits a far greater degree of analysis than is possible with human subjects, for obvious ethical reasons. We are currently generating knock-out mice to model two retinal dystrophies; rod monochromasy ( a -subunit of the cone specific cGMP-gated cation channel; CNGA3) and hereditary vitamin A deficiency (retinol binding protein; RBP). Colour Vision/Colour Vision Defects.
