41. Birth Defects Genetics Teratology Other Key Information Sources Information for genetic professionals at the University of Kansas Medical Centeris updated achromatopsia  Acoustic neuroma  Adrenal hyperplasia  http://ibis-birthdefects.org/start/inform.htm

Report Broken Links Exchange Banners Contact Us Birth Defects - Genetics - Teratology See I.B.I.S in English Spanish Russian Ukranian Search Other Key Information Sources Page Includes: Key Information Sources [*] Outstanding [P] For Professionals [French] [Italian] Health Topics A to Z CDC Centers for Disease Control and Prevention Neonatal Diseases and Abnormalities (Mega-Portal) [French] [English] ORPHA net. Search for a drug PEDINFO: An Index of the Pediatric Internet Office of Rare Diseases Genetics Education Center ... Genetics Disorders Search Engine By About.com Office of Rare Diseases National Institutes of Health Clinical Research Database National Institute of Neurological Disorders and Stroke Publications ... Aicardi Syndrome ... Anencephaly ... Angelman Syndrome ... Endocrine Society Fact Sheets Alphabetical List of Specific Diseases/Disorders Karolinska Institutet, Stockholm, Sweden. Developmental (Pediatric) Neurosurgery Information Links Musculoskeletal Diseases (Mega-Portal) View Dysmorphic Syndrome Features A Catalogue of Web pages describing particular abnormalities diagnosable by ultrasound [Italian][P][**] INDICE delle malattie CHORUS Collaborative Hypertext of Radiology Medical College of Wisconsin ...

42. Annual Reviews - Error Congenital Xlinked incomplete achromatopsia evidence for slow progression, Molecular genetics of inherited variation in human color vision. http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genet.33.1.89

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43. Genetics Foundation for Genetic Education and Counseling Genetic education for Home Page of The achromatopsia Network Information, Resources, Support, and Links. http://members.tripod.com/~pex/genetics.html

setAdGroup('67.18.104.18'); var cm_role = "live" var cm_host = "tripod.lycos.com" var cm_taxid = "/memberembedded" Search: Lycos Tripod Dukes of Hazzard Share This Page Report Abuse Edit your Site ... Next PARENTS EXCHANGE Genetics LARGE TEXT BOX Tool to enlarge text. Select a button to change the background color on this page. Wilson Disease Information for patients and caregivers. National Alopecia Areata Foundation Provides information about alopecia areata. Support Groups throughout the US. The National Neurofibromatosis Foundation (NNFF) Information for people with NF, and links to other sites. About Celiac Disease Information and Fact Sheets (National Institute of Diabetes and Digestive and Kidney Disorders). National Organization for Albinism and Hypopigmentation Information for people with albinism, their families and those that work with them. Foundation for Genetic Education and Counseling Genetic education for the general public and for health-care professionals. Albinism in Popular Culture The mythology of albinism. Home Page of The Achromatopsia Network Information, Resources, Support, and Links.

44. CVNet: CVNet - Postdoc; Genetics Of Photoreceptors; Tuebingen Xchromsome-linked colourblindness, achromatopsia). Recent publicationsinclude Nature genetics (1998, 19, 257-259) and Journal of Neuroscience http://www.visionscience.com/mail/cvnet/1999/0127.html

CVNet - postdoc; genetics of photoreceptors; Tuebingen Color and Vision Network ( cvnet@lawton.ewind.com Sun, 11 Apr 1999 22:21:05 -0700 Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] Next message: Color and Vision Network: "CVNet - postdoc; structure from motion; Rutgers" Previous message: Color and Vision Network: "CVNet - research associate; neurophysiology; Schepens ERI" To: hchan@well.sf.ca.us Subject: Postdoctoral position in Visual Science. Dear Hoover Chan, please post this message over cvnet. Thank you. Postdoctoral position in Visual Science. 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) ìGenotyping and Phenotyping of Human Cone Photoreceptorsî within a DFG Special Research Project (SFB 430) ìCellular mechanisms of sensory processes and neuronal interactionî. 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 T¸bingen and in Great Britain, The Netherlands and the United States. In addition to our investigations of basic visual processes, we are interested in the diagnosis and characterization of several inherited and aquired retinal disorders (e.g., X-chromsome-linked colourblindness, achromatopsia).

45. Blind World - Disease-specific Organizations. Provides information about achromatopsia and about the resources that are Funds research on the molecular genetics of glaucoma and on optic nerve http://www.home.earthlink.net/~blindworld/LINKS/disease.htm

Blind World Disease-specific Organizations. (The) Achromatopsia Network. P.O. Box 214, Berkeley, CA 94701-0214. E-mail: Editor@achromat.org URL: http://www.achromat.org AMD Alliance International. 1314 Bedford Avenue, Suite 113, Baltimore, Maryland 21208. URL: http://www.amdalliance.org/ American Autoimmune Related Diseases Association, Inc. (AARDA). 22100 Gratiot Avenue, East Detroit, MI 48021. (800)598-4668 (Literature Requests). URL: http://www.aarda.org/ P.O. Box 15247, Chattanooga, TN 37415-0240. Toll-free: 1-800-723-4238. URL: http://www.behcets.com American Health Assistance Foundation. 15825 Shady Grove Road, Suite 140, Rockville, MD 20850. (Phone: 301) 948-3244. Toll-free: 1-800-437-2423. URL: http://www.ahaf.org Association for Macular Diseases. 210 East 64th Street, New York, NY 10021. Phone: (212) 605-3719. URL: http://www.macula.org/ Benign Essential Blepharospasm Research Foundation. P.O. Box 12468, Beaumont, TX 77726-2468. Phone: (409) 832-0788.

46. OMIM Entry 303700 The frequency of achromatopsia is said to be approximately 1 in 100000 persons . R.; Fishman, G. Molecular genetics of human blue conemonochromacy. http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?303700

47. Genetics: Human, Medical, And Clinical - Ãåíåòèêà ÷åëîâåêà Variant Phenotypes of Incomplete achromatopsia in Two Cousins with GNAT2 Gene New insights in the genetics of isolated hypogonadotropic hypogonadism. http://genetics.rusmedserv.com/arc/?srch=none&msg=2004-11-25

48. Genetics: Human, Medical, And Clinical - Ãåíåòèêà ÷åëîâåêà Genetic Variation in White Matter Hyperintensity Volume in the Framingham achromatopsia GeneReviews Urea Cycle Disorders Overview - GeneReviews http://genetics.rusmedserv.com/arc/?srch=none&msg=2004-06-28

49. News Jjuly2000 RO achromatopsia, while typically rare, is common among the population of the Pingelap His results are published in the July issue of Nature genetics. http://www.revoptom.com/archive/DEPT/ro0700news1.htm

News Review for July 2000 AOA Suspends Plans for ABOP Wis. O.D.s Defend Decision to do PRK First Drug from Brand New Class Of Antibiotics WinsFDA Approval Genome Project Helps to Identify Colorblind Disease ... In the News AOA Suspends Plans for ABOP Jeffrey S. Eisenberg Senior Editor While the high rollers pored over the craps tables at the casino, the AOA House of Delegates said “no dice” to the American Board of Optometric Practice (ABOP). The decision came at the AOA’s 103rd annual Congress last month in Las Vegas. While technically ABOP remains on the books, the delegates voted to stop implementation of the board certification process and provide no new funding for ABOP. And former AOA president John A. McCall Jr., O.D., resigned as president and a member of ABOP. The delegates did vote to have the AOA host a summit of national optometric organizations to discuss the need for board certification, but that’s not a given, either. Many of the invited organizations spoke against ABOP. Some said they would commit to sending representatives to the summit, though. The National Board of Examiners in Optometry, which opposed ABOP, will attend, says NBEO president Donald R. Gordon, O.D. So will the Association of Regulatory Boards of Optometry, says James Vrac, ARBO executive director.

50. Cone-rod Dystrophy, X-linked, 1 achromatopsia, incomplete, Xlinked. Blue cone monochromatism Human Moleculargenetics Human Molecular genetics Human Molecular genetics http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=800

51. Profile orthologous to the human achromatopsia locus ACHM3. Human Molecular genetics . Ostrander EA, Stanford JL,genetics of prostate cancer too many loci, http://myprofile.cos.com/ostrander1

Elaine A. Ostrander powered by COS Expertise 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.

52. GENETICS THE NATIONAL FILE OF GENETIC PRINTS MEASERREMENTS OF IMPLAMENTATION. Rougé CL,Paysant F, CENTRAL achromatopsia AFTER WHIPLASH INJURY. Grimaldi L 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

53. Pina, Mol Vis 2004; 10:265-271. 1McGill Ocular genetics Laboratory, Montreal Children s Hospital Research 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.

54. ABOUT THE BOOK, UNDERSTANDING AND COPING WITH ACHROMATOPSIA The author, Frances Futterman, has complete achromatopsia. Scientific studiesof achromatopsia; Genetic research studies of rod monochromacy http://www.achromat.org/uc_book.html

About the Book Understanding and Coping with Achromatopsia (Second Edition) This 160-page, spiral bound book, first published in 1998 and revised in 2004, presents a substantial amount of helpful and interesting information pertaining to achromatopsia. This is a very useful book not only for individuals and families who are affected by this rare vision disorder but also for vision care professionals, special education teachers, counselors, and other professionals who work with the visually impaired. The information that is included in this book was gathered in various ways, including input from numerous individuals affected by achromaotpsia, library research, and consultations with specialists in different fields. The author, Frances Futterman, has complete achromatopsia. Following are titles from the Table of Contents page of the current edition of Understanding and Coping with Achromatopsia: What is achromatopsia? What is it like to have achromatopsia? Comparing achromatopsia with other vision disorders Individual differences Vision and coping strategies of a complete achromat Inheritance factors The genetics of rod monochromacy The genetics of blue cone monochromacy Achromats who see color Getting diagnosed Achromatopsia in print About being colorblind Adapted lifestyles and adapted environments Orientation and mobility Accommodations in the workplace and elsewhere Vocational choices for persons with achromatopsia Social and psychological aspects of achromatopsia Using adaptive devices Options for magnification

55. Pingelap: Island Of The Colorblind achromatopsia, as it appears on the island of Pingelap, differs from the above to ensure that genetic mutations such as congenital achromatopsia are http://serendip.brynmawr.edu/biology/b103/f01/web3/wise.html

This paper reflects the research and thoughts of a student at the time the paper was written for a course at Bryn Mawr College. Like other materials on Serendip , it is not intended to be "authoritative" but rather to help others further develop their own explorations. Web links were active as of the time the paper was posted but are not updated Contribute Thoughts Search Serendip for Other Papers Serendip Home Page Biology 103 ... 2001 Third Web Report On Serendip Pingelap: Island of the Colorblind Julie Wise Pohnpei Landscape. Photo (c) FSM Visitors Board. Envision a tropical paradise, not unlike the island scene pictured above, complete with breathtaking scenery that includes crystal blue waters and luscious plant-life. Now imagine that you cannot see any of these things in color. This is the situation that between 5% and 10% of the native population of Pingelap Atoll, part of the Micronesian State of Pohnpei, find themselves in Supposedly, a freak typhoon-like storm ravaged the island in the late eighteenth century and killed a number of the island's inhabitants. Approximately 20 people survived to replenish the isolated island's population. Roughly four generations after the typhoon, the citizens of Pingelap began exhibiting symptoms of a rare recessive disorder known as Achromatopsia. Achromatopsia is characterized by extreme light sensitivity, poor vision, and complete inability to distinguish colors . This anomaly is the focus of Oliver Sacks' new book The Island of the Colorblind and its publication has succeeded in raising public awareness about the rare hereditary disease of Achromatopsia. Of the roughly the 3000 people living in Pingelap today, 5% to 10% of them are affected by the disorder and about 30% are carriers

56. The Vision Of Typhoon Lengkieki - Nature Medicine recessive disorder achromatopsia, or total colorblindness, and genetic of CNGA3 and CNGB3 explains the genetic heterogeneity of achromatopsia, http://www.nature.com/nm/journal/v6/n7/full/nm0700_746.html

@import "/nm/style.css"; nature.com homepage Login My account ... Browse by subject Search This journal All of nature.com Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Reviews Nature Immunology Nature Cell Biology ... Browse all publications News and Views Nature Medicine doi:10.1038/77465 The vision of Typhoon Lengkieki Val C. Sheffield Department of Pediatrics, Division of Medical Genetics Howard Hughes Medical Institute University of Iowa Iowa City, Iowa 52242, USA val-sheffield@uiowa.edu Around 1775, Typhoon Lengkieki decimated the population in the Micronesian Pingelap Atoll, leaving only a handful of survivors to repopulate the islands. Their ancestors have a high incidence of the autosomal recessive disorder achromatopsia, or total colorblindness, and genetic analysis of the Pingelapese has revealed the mutation responsible. One of the islands in the Pingelap Atoll Anita Karl NEARLY A CENTURY ago, Sir Archibald Garrod observed that many patients with autosomal recessive disease were the offspring of consanguineous matings . The genetic explanation for this is that the affected individuals receive a mutant allele that originates from a common ancestor and is inherited through each parent, hence affected individuals are homozygous for the mutation. Because most individuals probably carry some deleterious recessive alleles, consanguinity and the resultant homozygosity are generally undesirable. Therefore, populations that arise from a small number of founding individuals and remain isolated have a high incidence of homozygosity for disease alleles passed on by the original founders. Nearly 50 years after Garrod's observation and long before the discovery of DNA polymorphic markers, it was suggested that offspring of consanguineous unions would be homozygous for genetic markers neighboring the disease gene

57. Entrez PubMed achromatopsia in Pingelap Islanders. Study of a genetic isolate. Carr RE, MortonNE, Siegel IM. MeSH Terms Adolescent Adult Child Color Perception Tests http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=5

58. Human Molecular Genetics: May 1997 (Volume 6, No 5) Human Molecular genetics May 1997 (Volume 6, No 5). May 01, 1997. virtual libraryin human genetics and molecular biology. Executive Editors http://hum-molgen.org/journals/HMG/0034.html

home genetic news bioinformatics biotechnology ... Search - prev / next Human Molecular Genetics: May 1997 (Volume 6, No 5) May 01, 1997 virtual library in human genetics and molecular biology Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA Oxford University Press Date of publishing: May, 1997 ISSN 0261 - 4189SSN 1964-6906 ARTICLE S K Heath, S Carne, C Hoyle, K J Johnson and D J Wells Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus P. 651 REPORTS R Morell, R A Spritz, L Ho, J Pierpont, W Guo, T B Friedman and J H Asher Jr Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA) P. 659 M Litt, R Carrero-Valenzuela, D M LaMorticella, D W Schultz, T N Mitchell, P Kramer and I H Maumenee Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta crystallin gene CRYBB2 P. 665 L Pulkkinen, V E Kimonis, Y Xu, E N Spanou, W H I McLean and J Uitto Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia P. 669

59. *605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3 (2000) found that the genetic basis of achromatopsia3, or Pingelapeseachromatopsia (262300), at 8q21-q22 is a recessive point mutation in CNGB3 that http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:605080] -e

60. Homozygosity Mapping Of Achromatopsia To Chromosome 2 Using DNA Pooling -- Arbou achromatopsia is an autosomal recessive disease of the retina, Geneticheterogeneity is suggested by the fact that partial achromatopsia exists, http://hmg.oxfordjournals.org/cgi/content/full/6/5/689

@import "/resource/css/hw.css"; @import "/resource/css/hmg.css"; Skip Navigation Oxford Journals Contact Us My Basket ... Volume 6, Number 5 Pp. 689-694 This Article Abstract 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 (27) Request Permissions PubMed PubMed Citation Articles by Arbour, N. C. Articles by Sheffield, V. C. Human Molecular Genetics Pages Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling Introduction Results Exclusion of chromosome 14 Linkage to chromosome 2 ... References Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling 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

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