61. Retina International's Scientific Newsletter - Colour Vision Defects Loci recessive achromatopsia. 1998; Am.J.Hum.Genet. 63 A301 Goto Top. 6. Nathans,J.,Piantanida,TP, Eddy,RL, Shows,TB, and Hogness,DS Molecular genetics of http://www.retina-international.org/sci-news/coldef.htm

Retina International's Scientific Newsletter Disease Database Colour Vision Defects Recent update from: 08.02.01 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References Achromatopsia ar Achromatopsia ar PDP Pingelapese Islanders German American 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 . 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. 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. Link to PudMed Goto Top . Kohl,S., Baumann,B., Broghammer,M., Jagle,H., Sieving,P., Kellner,U., Spegal,R., Anastasi,M., Zrenner,E., Sharpe,L.T., and Wissinger,B. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 2000; Hum.Mol.Genet. 9: 2107-2116. Link to PudMed Goto Top . Kohl,S., Marx,T., Giddings,I., Jagle,H., Jacobson,S.G., Apfelstedt-Sylla,E., Zrenner,E., Sharpe,L.T., and Wissinger,B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 1998; Nat.Genet. 19: 257-259.

62. COS Expertise Profile Canine CNGB3 mutations establish cone degeneration as orthologous tothe human achromatopsia locus ACHM3. Human Molecular genetics. http://myprofile.cos.com/ostrander1

Fred Hutchinson Cancer Research Center Elaine A. Ostrander Fred Hutchinson Cancer Research Center Clinical Research Division Member Appointed: 2000 University of Washington School of Medicine Genome Sciences Affiliate Professor Appointed: 2002 University of Washington College of Arts and Sciences Zoology Affiliate Professor Appointed: 2002 Fred Hutchinson Cancer Research Center Human Biology Division Member Appointed: 2000 Mailing Address Fred Hutchinson Cancer Research Center 1100 Fairview Avenue N., D4-100 P.O. Box 19024 Seattle, Washington 98109-1024 United States Contact Information Phone: (206) 667-6979 Fax: (206) 667-6396 eostrand@fhcrc.org Qualifications Ph.D., Oregon Health Sciences University, Microbiology and Immunology, 1987 Expertise and Research Interests Dr. Elaine Ostrander's laboratory is interested in mapping and characterizing genes responsible for inherited disease in both dogs and humans. We are using three approaches. First, we are developing a canine genome map, and have used that map to identify genes which predispose naturally occurring populations of dogs to inherited disease. Second, we are screening two large cohorts of women with breast cancer to determine the distribution and frequency of mutations in the BRCA1 and BRC2 genes. Third, we have undertaken a genome-wide scan of high risk prostate cancer families to identify prostate cancer predisposition loci. Our recent efforts in mammalian genomics have focused on the development of the canine map. We constructed the first meiotic linkage map of the dog, and most recently have worked on the development of a high density canine radiation hybrid map, producing a 1500 marker radiation hybrid map in October 2001. Together with collaborators we have unraveled the evolutionary relationship between the canine and human genomes and developed an 1800 marker integrated cytogenetic, meiotic linkage, and radiation hybrid map that aligns the canine and human genomes. We are currently working towards completion of a 3400 marker map.

63. Retina International's Scientific Newsletter - Cone Cyclic Nucleotide-gated Cati achromatopsia, Gly 557 Arg, GA, 1709, 7, Heterozygous, (1). Molecular genetics LaboratoryDepartment of Pediatric Ophthalmology, Strabismology and Ophthalmogenetics http://www.retina-international.com/sci-news/cnga3mut.htm

Retina International's Scientific Newsletter Mutation Database Mutations of the Cone Cyclic Nucleotide-gated Cation Channel Recent update from: 18.07.99 Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification Mutation Database OMIM Reference Achromatopsia Pro 163 Leu C-T -NlaIV Homozygous Achromatopsia Arg 283 Trp C-T -MspI Homozygous Achromatopsia Arg 283 Gln G-A Heterozygous Achromatopsia Thr 291 Arg C-G Heterozygous Achromatopsia Arg 411 Trp C-T +NlaIII Heterozygous Achromatopsia Val 529 Met G-A +NcoI Heterozygous Achromatopsia Phe 547 Leu C-A Heterozygous Achromatopsia Gly 557 Arg G-A Heterozygous Polymorphism IVS4+91g-c g-c Polymorphism IVS2+46g-t g-t Polymorphism IVS2+16g-a g-a Polymorphism Asp 24 Asp C-T Polymorphism Thr 66 Thr C-T Polymorphism Thr 153 Met C-T -BbsI References 1. Kohl, S., Marx, T., Giddings, I., Jagle, H., Jacobson, S.G., Apfelstedt-Sylla, E., Zrenner, E., Sharpe, L.T., and Wissinger, B. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 1998; Nat.Genet. 19: 257 - 259. Goto Top Link to PudMed Return to Retina International's Scientific Newsletter ... Return to pagehead Contact the editor: irpamp@irpa.org

64. Bibliografi-artiklar W. Polland, «Different expressions of one gene for congenital achromatopsia withamblyopia a homozygous father with 11 children.» In Clinical genetics 18/1980 http://www.ddb.umu.se/forskning/bibliografi/artiklar.htm

Demografiska databasen Articles/Artiklar DDB publications/DDB:s publikationer Dissertations/Avhandlingar Articles/Artiklar DDB-information ... Publications for sale/Skrifter till försäljning Journal of Family History, vol. 14, no. 3, 1989. Human Genetics , vol. 94, 1994, p. 124-128. Historical Methods Summer 1985. Volume 18, no. 3, p. 117-119. Bengtsson, Magdalena, "The Interpretation of Causes of Death among Infants". In Hygiea Internationalis vol 2, no 2 2002, 53-73. Abstract Journal of Neurology, Neurosurgery and Psychiatry, vol. 57, no. 4, 1994, p. 497-499. Clinical Genetics 21 Scandinavian Journal of Statistics , vol. 14, no. 2, p. 113-123, 1987. Journal of Tropical Pediatrics, DFI Tre kulturer. 3-4/1985, s. 148-168. Historisk Tidskrift, Socialmedicinsk Tidskrift Social History of Medicine, The History of the Family vol 1 no 2 1996. Abstract Individ och struktur i historisk belysning. Festskrift till Sune à kerman. Umeå 1997, s.3.

65. Pina, Mol Vis 2004; 10:265-271. Montreal, Canada; 2 Department of Orthodontics, Craniofacial genetics, UniversityClinic Recently achromatopsia has been associated with mutations in this gene http://www.molvis.org/molvis/v10/a34/

Molecular Vision Download Reprint Uwe Baumert ... Robert K. Koenekoop McGill Ocular Genetics Laboratory, Montreal Children's Hospital Research Institute, McGill University, Montreal, Canada; Department of Orthodontics, Craniofacial Genetics, University Clinic of Regensburg, Germany Correspondence to: Dr. Robert Koenekoop, Ophthalmology, Montreal Children's Hospital, 2300 Tupper, Montreal, PQ, Canada, H3H 1P3; Phone: (514) 412-4400, ext. 22891; FAX: (514) 412-4443; email: robert.koenekoop@muhc.mcgill.ca Abstract Purpose: ) has been cloned and characterized. Recently achromatopsia has been associated with mutations in this gene. Cone and cone-rod dystrophies are a genetically heterogeneous group of photoreceptor diseases, in which mutations of a single gene may cause a variety of phenotypes. In this study we tested the hypothesis that mutations in cause cone-rod degeneration (CRD). Methods: PCR-SSCP and heteroduplex analysis combined with automated sequencing was used for mutation detection in in 13 independent pedigrees with CRD. We used co-segregation analysis to establish or reject causation, when possible. Molecular computer modeling was utilized to examine the possible consequences of mutations onto GNAT2 protein structure. Results: We found a novel 3 base-pair deletion, predicted to cause the loss of a highly conserved lysine at position 270 (K270del) in a French-Canadian CRD pedigree. We detected this deletion in a CRD proband, but also in his unaffected son, the proband's unaffected father and the proband's unaffected brother. However, we did not find this defect in 12 other CRD pedigrees, nor in 100 normal, culturally matched chromosomes. According to literature and our molecular computer modeling, the K270 plays an important role in securing the guanine ring in the nucleotide binding cleft of the molecule and in creating a salt bridge between the helical and GTPase domains of GNAT2. However, the K270del in GNAT2 does not appear to have extensive consequences to the structure and the function of the GNAT2. Apparently, there is a compensatory effect of lysine (K-271), which forms a hydrogen bond with the N1 ring nitrogen substituting for the loss of the lysine at position 270.

66. ICVS Daltoniana February 2001 MOLECULAR genetics. Complete achromatopsia is a rare, autosomal recessive disordercharacterized by photophobia, low visual acuity, nystagmus and a total http://orlab.optom.unsw.edu.au/ICVSFolder/Daltoniana.Feb01.html

DALTONIANA number 96 - February, 2001 The bulletin of the International Colour Vision Society Edited by Stephen Dain School of Optometry University of New South Wales Sydney 2052 Australia e-mail: s.dain@unsw.edu.au Daltoniana on the web Welcome to the 8th edition of the web based Daltoniana . This edition will be transmitted by email and mailed to members from locations in North America, Europe and Australasia. Contents Officers and Committee General Secretary's report Next symposium Abstracts Officers and Committee President General Secretary Ken Knoblauch Treasurer Ted Sharpe Membership Secretary Anne Kurtenbach Daltoniana Editor Stephen Dain Proceedings Editors Dick Cavonius Ken Knoblauch, Barry Lee and Joel Pokorny Committee Jenny Birch Dick Cavonius , Stephen Dain Kenji Kitahara ... Eberhart Zrenner General Secretary's report My 4 year term as General Secretary will be up in 2001. It is time to consider nominations for this post as well as for the Board of Directors. Nominations will be accepted at the Business meeting in Cambridge and voting will be by mail ballot, as usual. See you there. ICVS Meeting 2001 (web page http://www.icvs2001.org.uk/)

67. Re: Experience With Bcm of blue cone monochromacy, I refer them to the section on genetics in the book thatI make available for members of the achromatopsia Network (Understanding http://www.yandle.com/bcm/_disc/00000028.htm

Blue Cone Monochromacy Home Contents Search Post ... Up Re: experience with bcm From: Frances Date: 16 Mar 2001 Time: Comments http://www.achromat.org/uc_book.html Frances Futterman Last changed: March 16, 2001

68. Science Abstracts Eudy Et Al. 280 (5370) 1753 NEW EMBO MEMBER S REVIEW On the genetics of retinitis pigmentosa and on cone photoreceptorcGMPgated channel are responsible for achromatopsia (ACHM3) linked http://www.sciencemag.org/cgi/content/short/280/5370/1753?ck=nck

69. J Med Genet -- Collected Resources : Genetics Online mutation reports achromatopsia caused by novel mutations in both CNGA3 ReviewsReferral for cancer genetics consultation a review and compilation of http://jmg.bmjjournals.com/cgi/collection/genetics?page=8

70. J Med Genet -- Sign In Page Eur J Hum Genet 2002;10638–42.CrossRefMedline; Kohl S, Jägle H,Zrenner E, Sharpe LT, Wissinger B. The genetics of achromatopsia. http://www.jmedgenet.com/cgi/content/full/41/2/e20

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH This item requires a subscription to Journal of Medical Genetics Online. Full Text Achromatopsia caused by novel mutations in both and Johnson et al. J Med Genet. PDF Version of this Article Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation Search PubMed for articles by: Johnson, S Hunt, D M Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Genetics 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 2 days for US$8.00. SitePass - You may access all content in Journal of Medical Genetics Online (from the computer you are currently using) for 30 days for US$25.00. Regain Access - You can regain access to a recent Pay per Article or SitePass purchase if your access period has not yet expired.

71. Bmj.com Collected Resources : Genetics Journal of Neurology, Neurosurgery, and Psychiatry, Journal of Medical genetics,Journal of Short reports Mapping of a novel locus for achromatopsia (ACHM4) to http://bmj.bmjjournals.com/cgi/collection/genetics?notjournal=bmj&page=91

72. Achromatopsia This is called ‘recessive inheritance’. This is only a brief summary of thegenetics of achromatopsia. There are exceptions to these general rules. http://www.ssc.mhie.ac.uk/eyeconds/Achro.htm

Scottish Sensory Centre Medical Information on Achromatopsia For whom is this information intended? The information contained in this document is intended for use primarily by parents, other members of the family and older children with visual impairment. The information will also be of use to interested health professionals, carers and teachers. The purpose of each information document The purpose of the information is to explain: The way the eyes and brain normally work to make 'vision' The reason why vision may become impaired by a specific condition The cause of the condition The effects of the condition on the child's vision How the condition is diagnosed What can be done to help This document is written with the minimum use of medical terms and jargon. It is impossible to avoid all medical terms but where we have used them we have attempted to explain them as clearly as we can. Although the information is intended to describe most aspects of the condition each child is different and there will always be exceptions to the rule. As far as we can determine these pages are true and accurate and have been written in good faith. Inevitably there will be some mistakes. We apologise for this. What this information is not for This document is not a substitute for a consultation with a Health Professional and should not to be used as a means of diagnosing a condition.

73. Applied Biosystems - BioBeat - Suite Of Applied Biosystems Products of hereditary total color blindness (achromatopsia) that afflicts a significant portion identified the achromatopsia gene on chromosome 2 (CNGA3) in 1998 Nature Genetics19257259 http://www.appliedbiosystems.com/biobeat/colorblind

74. Publication List For Suzanne M. Leal, Ph.D. BL, Salam AA, Leal SM, Karayiorgou M (1999) Homozygosity mapping of the achromatopsialocus in the Pingelapese. American Journal of Human genetics 6416791685 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.

75. Achromatopsia; Treatment, Prevention, Cure achromatopsia Search here for information which may include treatment, diagnosis,prevention, support groups, email lists, messageboards, personal stories http://www.healthlinkusa.com/content/2.html

Latest Health News Find Drug Information Health Calculators All Words Any Words A B C D ... Z Sunday, January 4, 2004 Alternative therapy struggles to bridge East-West divide Click here to read more Doctors are not following guidelines recommending flu and pneumonia vaccinations for hospitalized adults, leaving millions of elderly patients vulnerable to potentially deadly ailment Click here to read more A helping hand for uninsured; Agencies find ways to provide health care for area children Click here to read more The government has approved the first generic version of the acne drug, Accutane Click here to read more Gates to give India $100m for AIDS; Microsoft CEO begins controversy-laced trip to fight virus Click here to read more Allergies and Asthma Alternative Medicine Arthritis and Your Health ... Women's Health Sunday June 06, 2004 Spina Bifida: Spina Bifida is a rare birth disorder, affecting approximately 1 in 12-1400 live births. Click here to learn more Craniosynostosis: Sagittal Synostosis...males are affected about three times as often as females. Click here to learn more Spinal Cord Injury: Acts of violence have now overtaken falls as the second most common source of spinal cord injury.

76. Blindness Color Inheritance Redgreen color blindness. Red-green color http//www.chp.edu/greystone/genetics/xlink.phpAchromatopsia and Color Blindness http://101investor.com/z/retirement-planning/blindness-color-inheritance.html

77. 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/ferri genetic disorders.

Genetic Disorders Directions Books Databases General Resources ... Resources for Specific Disorders Directions This assignment continues our study of genetic disorders. You will research 5 genetic disorders and answer the following questions: What kind of human genetic disorder is this condition? What are the characteristics of persons with the disorder? What is/are the current research/treatments for the disorder? what three bits of interesting information about the disorder did you discover? Books There are many books on these various genetic disorders found in the general collection; use the OPAC to locate them. You can also find books in the reference section: R 616 Wyn - The Encyclopedia of Genetic Disorders and Birth Defects R 616.003 Hum - Human Diseases and Conditions R 576.50 Wor - The World of Genetic Disorders Also consult your textbook, Applied Genetics, Chapter 27. Online Databases These can be accessed from the desktop of the IMC computers and from home from the IMC's home page - you will need a user ID and password Ebscohost for magazine and newspaper articles Gale Group - Student Resource Center: Health Module Top of Page General Resources - start here for information Google - this search engine's listing of genetic disorders is wonderful; it is arranged alphabetically by the disorder and you can find 99% of the assigned disorders here.

78. Mendelian Genetics core/bio/genetics/achondroplasia.htm Achondroplasia II — Dwarfism http//www.marchofdimes.com/professionals/681_1204.aspAchromatopsia — Hereditary vision http://www.kensbiorefs.com/MendelGen.html

Site Navigation Home Animal Behavior Animal Anat, Phys 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 Genetic Careers and Resources http://bioweb.uwlax.edu/GenWeb/Student_Resour/student_resour.htm

79. Cambridge Veterinary School: Research: Genetics CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsialocus ACHM3. Animal genetics in Press; Borg I, Squire M, Menzel C, Stout K http://www.vet.cam.ac.uk/research/genetics.html

Department of Clinical Veterinary Medicine Last update: 6 January 2003 Home News Contacts Applying ... Site Map Research: Canine and Comparative Genetics Group leader: Dr David Sargan (pictured right) The domestic dog shows varieties of body size and of anatomical conformation greater than those seen in any other mammalian species, often combined with considerable heritable differences in behaviour patterns. A corollary of phenotypic variation has been the recognition of more naturally occurring inherited diseases in dogs than have been catalogued in any other species apart from man. These diseases are responsible for differences in average age at death of up to 50% between different breeds of dog, and cause considerable morbidity and suffering to affected animals. In this laboratory we have concentrated on genetic studies that can help us to understand these diseases. The work has taken three forms: The development of a comparative genetic map showing the relationship between human and canine chromosomes. In collaboration with Dr Fengtang Yang and other members of the Molecular Cytogenetics Laboratory we have used reciprocal chromosome painting techniques to demonstrate the relationship between the two karyotypes. We have extended this study by using PCR to confirm the location of genes within particular canine chromosomes. We are now developing cross-species genomic array methods to establish synteny to a few hundred thousand base pairs.

80. 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

XVIII th Congress of the International Academy of Legal Medicine th , September 2000 ORAL PRESENTATIONS Dear colleagues, The following abstracts have been accepted as oral communications. Notice that the time allowed for your presentation is 8 minutes plus two minutes for discussion. 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

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-80 of 84    Back | 1  | 2  | 3  | 4  | 5  | Next 20