21. Achromatopsia (was: Color) From Joe Clark On 2003-09-12 (w3c-wai-gl@w3.org From Since, according to Joel Pokorny, the prevalence of achromatopsia is reported (Waardenburg, PJ achromatopsia congenita. In genetics and Ophthalmology. http://lists.w3.org/Archives/Public/w3c-wai-gl/2003JulSep/0525.html

W3C home Mailing lists Public w3c-wai-gl@w3.org ... July to September 2003 Achromatopsia (was: Color) This message Message body Respond More options Related messages Next message Previous message From Date : Fri, 12 Sep 2003 14:52:58 -0400 (EDT) To Message-ID http://joeclark.org/access/ http://joeclark.org/book/ Received on Friday, 12 September 2003 14:55:33 GMT This message Message body Next message Gregg Vanderheiden: "Captioning of SIgn language?" Previous message Joe Clark: "Re: [techs] Summary of Face to Face, 08 and 09 September 2003" Mail actions respond to this message mail a new topic Contemporary messages sorted by date by thread by subject by author Help How to use the archives Search in the archives This archive was generated by hypermail 2.2.0 : Wednesday, 10 August 2005 18:07:41 GMT

22. +139340 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING MOLECULAR genetics. achromatopsia, also referred to as rod monochromacy, is anautosomal recessive ocular disorder characterized by total colorblindness, http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:139340] -e

23. Canine CNGB3 Mutations Establish Cone Degeneration As Orthologous To The Human A 1Center for Canine genetics and Reproduction, James A. Baker Institute for Animal It is phenotypically similar to human achromatopsia, a heterogeneous http://hmg.oxfordjournals.org/cgi/content/abstract/11/16/1823

@import "/resource/css/hw.css"; @import "/resource/css/hmg.css"; Skip Navigation Oxford Journals Contact Us My Basket ... Volume 11, Number 16 Pp. 1823-1833 This Article Full Text FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (19) Request Permissions PubMed PubMed Citation Articles by Sidjanin, D. J. Articles by Ostrander, E. A. Human Molecular Genetics, 2002, Vol. 11, No. 16 Oxford University Press Canine mutations establish cone degeneration as orthologous to the human achromatopsia locus Duska J. Sidjanin Jennifer K. Lowe John L. McElwee Bruce S. Milne Taryn M. Phippen David R. Sargan Gustavo D. Aguirre Gregory M. Acland and Elaine A. Ostrander Center for Canine Genetics and Reproduction, James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA, Divisions of Human Biology and Clinical Research, Fred Hutchinson Cancer Research Center 1100 Fairview Avenue North, D4-100 Seattle, WA 98109, USA

24. B.U. Bridge: Boston University Community's Weekly Newspaper Researchers say that the discovery of a second gene for achromatopsia providesnew insights into the genetics of vision and color vision and will facilitate http://www.bu.edu/phpbin/researchbriefs/display.php?group=bridge&date=1999-08-13

25. Color Blindness Human Molecular genetics 1997 May; 6, no. 5 689694. Dobson, V., et al. achromatopsia Network. C/O Frances Futterman, PO Box 214, Berkeley, http://www.healthatoz.com/healthatoz/Atoz/ency/color_blindness.jsp

26. Gene Mutation For Color Blindness Found: Science News Online, July 22, 2000 Pingelap and Mokil atolls; achromatopsia. American Journal of Human genetics 24304 . Homozygosity mapping of the achromatopsia locus in the Pingelapese. http://www.sciencenews.org/articles/20000722/note20ref.asp

Science News Books. Subscribe to Science News ... Science News for Kids Math Trek Turtle Tracks Food for Thought Chocolate Therapies (with recipe for Janet’s Chocolate Medicinal Mousse Pie) Science Safari A Curie-ous Tale TimeLine 70 Years Ago in Science News Science News e-LETTER. ... Week of July 22, 2000; Vol. 158, No. 4 Gene mutation for color blindness found Nathan Seppa Scientists have identified the gene that is mutated in people who have color blindness on the Pacific island of Pingelap, perhaps paving the way for genetic screening. References: Sundin, O.H., et al . 2000. Genetic basis of total colourblindness among the Pingelapese islanders. Nature Genetics 25(July):289-293. Abstract available at http://dx.doi.org/10.1038/77162 Further Readings: Hussels, I.E., and N.E. Morton. 1972. Pingelap and Mokil atolls; Achromatopsia. American Journal of Human Genetics Kohl, S., et al . 1998. Total colourblindness is caused by mutations in the gene encoding the a -subunit of the cone photoreceptor cGMP-gated cation channel. Nature Genetics 19(July):257-259. Abstract available at

27. Clinical Report - Clinical Genetics Clinical genetics continues to respond to the challenge of helping a growingnumber of achromatopsia caused by novel mutations in both CNGA3 and CNGB3. http://www.bwhct.nhs.uk/index/about-clinicalreport/about-clinicalreport-clingen.

About the Trust About Us History Strategic Vision The Trust Board ... Anaesthetics Clinical Genetics Regional Genetics Acute Service Laboratories Histopathology Physiotherapy ... Annual Report CLINICAL GENETICS Executive Summary Staff 1 new consultant has been appointed this year. Dr Christine Oley has joined the department from Brisbane. 1 vacant consultant post was filled. During 2003-2004, there were 9.26 WTE Consultant staff in post. 5 WTE SpRs were in post at the end of the current year. 1 new genetic counsellor was appointed and 1 additional vacant post was filled (16.6 WTE over the year ending 31/3/4). The new post is a training post funded by DOH. This is the first of 2 such posts that the department has successfully bid for. Scope of work The Clinical Genetics team provides services to the 5.3 million residents of the West Midlands. 25% of families are referred by their primary care team. We offer general and specialised multidisciplinary* genetic clinics and cancer genetics clinics. These are held across the region to maximize ease of patient access. In addition, a duty team (consultant, genetic counsellor and senior SpR) is based at Birmingham Womens Hospital to provide a rapid response to urgent referrals and telephone advice to all health professionals. Referral numbers continue to grow and exceeded 5,200 this year. This reflects the ever-growing number of conditions for which genetic testing can contribute to diagnosis and patient management. Genetic Counsellors manages approximately 1/6 patients referred and a proportion is seen in their own homes. Our website contains information on services provided, information about laboratory tests and advice on how to make a referral (

28. Publication List For Suzanne M. Leal, Ph.D. Homozygosity mapping of the achromatopsia locus in the Pingelapese. Leal SM (2001) genetics and Analysis of Quantitative Loci (authors Lynch M, http://linkage.rockefeller.edu/suzanne/pub.html

Publication List Research Articles updated 6/7/02 DeWan AT, Parrado AR, Matise TC, Leal SM (2002): The map problem: a comparison of genetic and sequence-based physical maps. American Journal of Human Genetics Abstract Article Wessman M, Kallela M, Kaunisto M, Marttila P, Sobel E, Hartiala J Oswell G, Leal SM, Papp JC, Hämäläinen E, Broas P, Joslyn G, Hovatta I, Hiekkalinna T , Kaprio J, Ott J, Cantor RM, Zwart JA, Ilmavirta M, Havanka H, Färkkilä M, Peltonen L, Palotie A (2002): A susceptibility locus for migraine with aura on chromosome 4q24 revealed by genome-wide screen in Finnish families. American Journal of Human Genetics Abstract Article Chen ACH, Laforge KS, Ho A, McHugh PF, Kellog S, Bell K, Schluger RP, Leal SM, Kreek MJ (2002): A potentially functional polymorphism in the promoter region of prodynorphin gene may be associated with protection against cocaine dependence or abuse American Journal of Medical Genetics Abstract Cigler T, LaForge KS, McHugh PF, Kappadia SU, Leal SM, Kreek MJ (2001): Novel and previously identified single nucleotide polymorphisms in the human 5-HT1B receptor gene:no association with cocaine or alcohol abuse/dependence. American Journal Medical Genetics Abstract Article Wille A, Leal SM (2001): Novel selection criteria for genome scans of complex traits.

29. Val Sheffield, M.D., Ph.D. Current Opinion in genetics and Development 5335341. Homozygosity mappingof achromatopsia to chromosome 2 using DNA pooling. Human Molecular genetics http://genetherapy.genetics.uiowa.edu/centermembers/peoplepages/valsheffield.htm

Val Sheffield, M.D., Ph.D. (Full Member) Professor, Department of Pediatrics Link to the Molecular Ophthalmology Lab Nichols, B.E., V.C. Sheffield, K. Vandenburgh, A.V. Drack, A.E. Kimura and E.M. Stone (1993). Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nature Genetics 3:202-207. Sheffield, V.C., J.S. Beck, A.E. Kwitek, and E.M. Stone (1993). The sensitivity of single strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 16:325-332. Nichols, B.D., Drack, A.V., K. Vandenburgh, A.E. Kimura, V.C. Sheffield and E.M. Stone (1993). A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. Human Molecular Genetics 2(5):601-603. Kwitek-Black, A.E., R. Carmi, G.M. Duyk, K.H. Buetow, K. Elbedour, R. Parvari, C.N. Yandava, E.M. Stone and V.C. Sheffield (1994). Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genetics 5(4) 392-396. Nichols, B.E., R.A. Bascom, M. Litt, R. McInnes, V.C. Sheffield, E.M. Stone (1994). Fine mapping of the Best's disease locus and mutation analysis of the candidate gene ROM1. Am J Hum Genet 54:95-103.

30. IngentaConnect Table Of Contents: Human Molecular Genetics cGMPgated channel are responsible for achromatopsia (ACHM3) linked to chromosome8q21 Clinical, biochemical and molecular genetic correlations in http://www.ingentaconnect.com/content/oup/hmg/2000/00000009/00000014

Home About Ingenta Ingenta Labs Help For Publishers Why go online? Why choose IngentaConnect? Why choose CustomConnect? Access and authentication ... Contact us For Researchers About IngentaConnect Search and browse Publications available Accessing articles ... Register For Librarians Why choose IngentaConnect? Why choose IngentaConnect Premium? Activating Subscriptions Purchasing articles ... Browse Publications Human Molecular Genetics ISSN 0964-6906 Publisher: Oxford University Press Volume 9, Number 14, 1 September 2000 all issues Identification of as a novel modifier gene in familial combined hyperlipidemia pp. 2067-2074(8) Authors: Geurts, Jan M.W.; Janssen, RobG.J.H.; van, MarleenM.J.; van, Carla J.H.; Cantor, RitaM.; Bu, Xiang-dong; Aouizerat, Bradley E.; Allayee, Hooman; Rotter, Jerome I.; de, Tjerk W.A. Targeted disruption of the human pp. 2075-2083(9) Authors: Horike, Shin-ichi; Mitsuya, Kohzoh; Meguro, Makiko; Kotobuki, Noriko; Kashiwagi, Akiko; Notsu, Tomomi; Schulz, ThomasC.; Shirayoshi, Yasuaki; Oshimura, Mitsuo Identification of a novel protein interacting with RPGR pp. 2085-2093(9)

31. Baker Institute : Research : Genetics And Reproduction : George Acland : Curricu Quantitative genetics of traits associated with hip dysplasia in a canine cone degeneration as orthologous to the human achromatopsia locus ACHM3. http://bakerinstitute.vet.cornell.edu/research/acland/acland_cv.html

Gregory Acland Nancy Burton-Wurster George Lust Vicki Meyers-Wallen ... Faculty Publications Curriculum Vitae Position Title: Senior Research Associate Education/Training: Institution and Location Degree Years Field of Study University of Sydney, Australia B.V.Sc. Veterinary Medicine University of Pennsylvania Residency Vet. Ophthalmology University of Pennsylvania Postdoc Ophthalmology American College of Veterinary Ophthalmologists Diploma Vet. Ophthalmology Research and Professional Experience: Resident in Ophthalmology , School of Veterinary Medicine, University of Pennsylvania, PA NEI Postdoctoral Fellow , School of Veterinary Medicine, University of Pennsylvania, PA Diplomate , American College of Veterinary Ophthalmologists. Assistant Research Professor , School of Medicine, University of Pennsylvania, PA Senior Research Specialist , School of Medicine, University of Pennsylvania, PA Adjunct Assistant Professor Ophthalmology , School of Veterinary Medicine, University of Pennsylvania, PA Adjunct Associate Professor Ophthalmology , School of Veterinary Medicine, University of Pennsylvania, PA 2002-Present Adjunct Professor of Ophthalmology , School of Veterinary Medicine, University of Pennsylvania.

32. Genetics And Genetic Engineering Genetic Engineering Paradise on Earth or a Descent into Hell General Resources Genetic diseases achromatopsia Cancer genetics http://www.schools.ash.org.au/immanuel/genetics.htm

Genetics General Genetic engineering Human genetics Genetically modified food ... Cloning General Genetic Science Learning Center Genetics/Biotechnology Theme Biotechnology Australia Links to the Genetic World ... Mutant Fruit Flies: Exploratorium Exhibit Genetic engineering Biocapitalismwhat price the genetic revolution Biotechnology index page Council for Responsible Genetics Embracing Change with All Four Arms ... What is genetic engineering? Genetic disorders and diseases General Resources Genetic diseases Achromatopsia Albinism ... Birth defects and Genetics Human genetics CogPrints: Cognitive Science Eprint Archive OMNI Subject Listing for Genetics American Journal of Human Genetics European Federation of Biotechnology ... What Is DNA and the Human Genome Project Backto Library Home Page 32 Morphett Road, Novar Gardens, South Australia 5040 Last revised 21st August 2003 URL for this page is http://www.schools.ash.org.au/immanuel/htm/genetics.htm Jenni van Wageningen jvanwageningen@immanuel.sa.edu.au

33. Caremark.com achromatopsia, the complete inability to distinguish color, is an autosomal Human Molecular genetics 1997 May; 6, no. 5 689694. Dobson, V., et al. http://www.caremark.com/wps/portal/_s.155/5522/.cmd/ad/.pm/-/.c/1703/.ce/5535/.p

34. Mendelian Genetics genetics Human References — Scores of hyperlinked topics and disorders http//www.marchofdimes.com/professionals/681_1204.asp achromatopsia http://www.kensbiorefs.com/MendelGen.html

Homework Help: PATH - Pupils Ask, Teachers Help http://pathwhelp.org/ Site Navigation Home Animal Anat, Phys Animal Behavior Cell Chemistry ... Plant Anat, Phys Mendelian Genetics Click on underlined subject area to access reference Basics, Introductions, Hyperlinks Cancer Chromosomes, Karyotypes Disorders ... Unit Photos, Illustrations, GIF's Basics, Introductions, Hyperlinks Allele http://en.wikipedia.org/wiki/Allele Chi Square Test http://www2.chass.ncsu.edu/garson/pa765/chisq.htm Chi Square Test: Degrees of Freedom http://www.tufts.edu/~gdallal/dof.htm Chi Square Test with Tables http://www.cc.ndsu.nodak.edu/instruct/mcclean/plsc431/mendel/mendel4.htm Conservation Genetics: Application http://gslc.genetics.utah.edu/units/basics/conservation/when.cfm Conservation Genetics: Defined http://gslc.genetics.utah.edu/units/basics/conservation/ Conservation Genetics: Management http://gslc.genetics.utah.edu/units/basics/conservation/done.cfm Genetic Basics and Beyond http://gslc.genetics.utah.edu/units/basics/tour/ Genes broad overview http://people.ku.edu/~jbrown/gene.html

35. Eye Health Organizations o Provides information about achromatopsia and the resources available to meet Funds research on the molecular genetics of glaucoma and on optic nerve http://www.visionrx.com/library/resources/org_specific.asp

Health Center Dictionary Encyclopedia Innovation Spotlight ... Eye Care Library Eye Health Organizations The following organizations provide eye health-related information to the public. You may find it useful to contact one or more of these organizations for request information. These organizations also may be able to refer you to resources in your area. Inclusion in this list does not imply endorsement by VisionRx.com. Directory of Organizations for Specific Visual Impairments and Diseases Achromatopsia Network P.O. Box 214 Berkeley, CA 94701-0214 Editor@achromat.org http://www.achromat.org o Provides information about achromatopsia and the resources available to meet the special needs of those affected by this disorder, which is characterized by severe color vision deficiency and poor visual acuity. Seeks to promote awareness and education about achromatopsia. Assists patients and family members in networking. Publishes a newsletter and other publications. American Behcet's Association P.O. Box 27494

36. IOVS -- Sign In Page has been made in the genetics of complete achromatopsia (rod monochromacy) . Fullfield ERG from two subjects with incomplete achromatopsia due to http://www.iovs.org/cgi/content/full/45/12/4256

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Full Text Variant Phenotypes of Incomplete Achromatopsia in Two Cousins with Gene Mutations Rosenberg et al. Invest. Ophthalmol. Vis. Sci.. This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager PubMed PubMed Citation Articles by Rosenberg, T. Articles by Wissinger, B. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$15.00 Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

37. Genetics- PFLC Consumer Websites A collection of health websites concerned with genetics. achromatopsia Network., Alpha1 Antitripsin Deficiency Assoc. -, Ataxia-Telangiectasia-AT http://www.massgeneral.org/pflc/c_genetics.asp

Home Consumer Health Websites NIH Office of Rare Diseases National Organization of Rare Disorders (NORD) Achromatopsia Network ... top

38. Retina International's Scientific Newsletter - Colour Vision Defects Loci achromatopsia, ACHM4, GNAT2, 139340, ar, 1p13. D1S485 and D1S2881 and Hogness,DSMolecular genetics of inherited variation in human color vision. http://www.retina-international.com/sci-news/coldef.htm

Disease Database Colour Vision Defects Recent update from: 10.03.04 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References Achromatopsia ar Achromatopsia ar Achromatopsia ar PDP Pingelapese Islanders German American Achromatopsia ar D1S485 and D1S2881 Deuteranopia GCP,RCP xl Protanopia GCP,RCP xl Tritanopia BCP ad MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References Aligianis,I.A., Forshew,T., Johnson,S., Michaelides,M., Johnson,C.A., Trembath,R.C., Hunt,D.M., Moore,A.T., and Maher,E.R. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). 2002; J.Med.Genet. 39: 656-660. Link to PubMed Goto Top Arbour,N.C., Zlotogora,J., Knowlton,R.G., Merin,S., Rosenmann,A., Kanis,A.B., Rokhlina,T., Stone,E.M., and Sheffield,V.C. Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. 1997; Hum.Mol.Genet. 6: 689-694. Link to PubMed Goto Top Fitzgibbon,J., Appukuttan,B., Gayther,S., Wells,D., Delhanty,J., and Hunt,D.M. Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32. 1994; Hum.Genet. 93: 79-80.

39. University Of Utah Web Resources 14 sitegslc.genetics.utah.edu achromatopsia 14 sitegslc.genetics.utah.edu genes 14 sitegslc.genetics.utah.edu what is cloning http://www.utah.edu/uwebresources/search_engine/querystats/20040517.html

Getting U Linked Search Engine WebStats Services ... Home Site Search: Queries by Frequency Results from the week of: 5/08/2004 - 5/14/2004 Total queries groupwise grades career services bookstore ... webmail University of Utah Webmaster Phone: 801.581.6113 Email: webmaster@utah.edu

40. Recessive@Everything2.com Tay Sachs disease achromatopsia The genetics of Hair Color homozygotic Redheads tend to have sex with other redheads Heterozygous http://everything2.com/index.pl?node=recessive

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