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         Achromatopsia Genetics:     more detail

61. Egill Hansen (
With Ingegerd Frøyshov Larsen and Kåre Berg. Clinical genetics, Copenhagen, 1978,13 190200. Clinical aspects of achromatopsia. Chapter 9, pages 316-334.


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Egill Hansen
Norwegian ophthalmologist, born February 11, 1929, Rakkestad, Østfold fylke.
Associated eponyms:
Hansen-Larsen-Berg syndrome

A familial syndrome of progressive cone dystrophy with total colour blindness, optic disc pallor, thin retinal blood vessels, and retinal dystrophy. Biography: Egill Hansen grew up together with two younger brothers in Rakkestad in south-eastern Norway, the son of Karl Fredrik Hansen, a butcher, and Agnes Helene Tjernnes. He graduated from the gymnasium Østfold Høgere Almenskole, Mysen, in 1948 as a private pupil. He studied medicine at the University of Oslo, graduating in 1954. After serving his internship at various hospitals, he became an eye specialist in 1964 and in 1966 he became assistant chief physician in the policlinic, department of ophthalmology at Rikshospitalet in Oslo. From 1966 he was in charge of the archives of the blind, and from 1967 to 1981 a consultant and attending physician to Huseby utdanningssenter for synshemmede, an educational institution for people with impaired vision. In 1979 he obtained his medical doctorate with a thesis on " Selective chromatic adaptation studies . ." In this work Hansen describes a new method for investigating receptor functions in eye diseases. In 1980 he won the Prize for hygiene from the Norwegian Medical Association for a work on the causes of blindness in Norway, based on the archives of the blind. Due to lack pf public funding this extremely valuable archive was closed in 1995. At the time, however, statistics had been produced and distributed in both Norwegian and English.

62. Bibliografi-artiklar
W. Polland, «Different expressions of one gene for congenital achromatopsia withamblyopia a homozygous father with 11 children.» In Clinical genetics 18/1980
Demografiska databasen
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 Åkerman. Umeå 1997, s.3.

63. ICVS Daltoniana February 2001
MOLECULAR genetics. Complete achromatopsia is a rare, autosomal recessive disordercharacterized by photophobia, low visual acuity, nystagmus and a total
  • 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:
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.
Officers and Committee
General Secretary's report

Next symposium

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

64. BUMC: Current Research
Current Research. The Center for Human genetics is involved in researchprojects for achromatopsia; Alzheimer's Disease; Autism; Arthritis;

65. Colour Blindness: Links
The achromatopsia Network web site gives wide ranging information and support. inWisconsin is a centre for colour vision research, specialising in genetics.
Colour Blindness: Causes and Effects
contents ordering links ... reviews There is a great deal of information to be found on the web and this selection of links does not aim to be comprehensive. They have been chosen where they supplement or update material in Colour Blindness: Causes and Effects Achromatopsia
This form of colour vision deficiency is given only a short treatment in the book. The Achromatopsia Network web site gives wide ranging information and support.
Design for the colour deficient
The explosion of the world wide web has stimulated work on the legibility of colour displays by the colour deficient. There are several sites giving good advice on colour design and showing simulations of colour deficient vision. Some offer software to transform colour images.
The Colors for the ColorBlind site gives background information on colour deficiency, some sample Ishihara charts and a set of colour charts to assist in web design.
The Safe Web Colours pages from BT Exact Technologies give excellent advice on colour choice, with simulations and the complete set of web safe colours as seen by normals and dichromats.
Simulation software is marketed by Colorfield , who provided the images for the cover of Colour Blindness: Causes and Effects
A comprehensive set of material and software for handling web colours is provided by Visibone
is an innovative site. As well as offering several version of simulation software, it introduces a novel process termed Daltonizing. This adjusts the colour values of an image to reduce colour confusions for dichromats as far as possible, and so can be used to improve legibility of diagrams.

66. Ayyagari, Mol Vis 1999; 5:13.
Molecular genetics of human blue cone monochromacy. Science 1989; 2458318. 11.Fleischman JA, O'Donnell FE Jr. Congenital X-linked incomplete achromatopsia.
Molecular Vision

Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene Radha Ayyagari Laura E. Kakuk , Caraline L. Coats, Eve L. Bingham, Yumiko Toda, Joost Felius Paul A. Sieving
Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI Correspondence to: Radha Ayyagari, PhD, Center for Retinal and Macular Degeneration, Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, 1000 Wall Street, Ann Arbor, MI, 48105; Phone: (734) 647-6345; FAX: (734) 936-7231; email: Abstract Purpose: To describe unusual macular abnormalities in a family with blue cone monochromacy (BCM, or X-linked incomplete achromatopsia) and deletion of about 9.5 kb comprising part of the red pigment gene and the region upstream of the red pigment gene. Methods: The molecular structure of the red and green pigment genes and the locus control region (LCR) upstream of the red gene were studied for deletions, rearrangements and point mutations by Southern blot analysis and PCR. Four affected males (ages 33, 45, 51, and 59) and a carrier female (age 58) were examined by funduscopy and fluorescein angiography. Extensive color vision testing as well as rod and cone electroretinography (ERG) were performed on two of them. Results: Conclusions: We report the unusual association between macular atrophy and BCM resulting from the loss of an approximately 9.5 kb region encompassing the LCR, proximal red gene promoter elements and exon 1 of the red gene. However, loss of the LCR and promoter is not sufficient to explain the phenotype since we have observed other BCM families with similar deletions who do not exhibit macular changes.

67. Full Time Faculty Fishman
Am J Human genetics, 6112871292, 1997. RJ, Grover, SD Legal blindness and employmentin patients with juvenile-onset macular dystrophies or achromatopsia. Time Faculty/Fishman.htm

68. - South Africa's Premier Eye Care And Eyewear Site
Discussion includes Choroideremia, research, blindness, mobility, genetics, support,vision Congenital achromatopsia is a rare hereditary vision disorder in


Online Optometrist


Right to Sight

Below follows a list of eyecare related conditions and diseases:
Eye Disease - Medline Citation Search
  • Eye Diseases - Medline - Citation Search - The Society of Thoracic Surgeons
Ophthalmic Slide Collection
  • Digital Ophthalmic Slide Collection - New York University Dept. Of Ophthalmology, Massachusetts Eye and Ear Infirmary, DJO - Digital Journal of Ophthalmology - Hundreds of Slides
Albinism - Ocular:
Ocular albinism is an ocular disease or eye disease characterized by a genetic condition in which the eyes lack melanin pigment, while the skin and hair show normal or near-normal coloration. The lack of pigment in the eyes causes various vision problems including reduced visual acuity,nystagmus (involuntary back-and-forth movement of the eyes), strabismus (crossed eyes or "lazy" eye), and sensitivity to bright light. Hermansky-Pudlak Syndrome (HPS) is a type of albinism which includes a bleeding tendency, colitis, lung disease, and kidney disease.

69. LU:research - Lund University Institutional Archive
Ophthalmic genetics 2001; 2 107115. Eksandh L, Kohl S, Wissinger B. Clinical featuresof achromatopsia in Swedish patients with defined genotypes. Submitted.
About Eksandh, Louise UNSPECIFIED Thesis or Dissertation Clinical expressions of juvenile hereditary retinal degenerations and macular dystrophies - Electrophysiological and genetic studies Phenotype, Genotype, Full-field ERG, EOG, Multifocal-ERG, Best disease, Spielmeyer-Vogt disease, Juvenile X-linked retinoschisis, Stargardt disease, Rod-monochromacy
Hereditary retinal degenerations are the most frequent reason for severe visual handicap among young people in Scandinavia today. In the six papers included in this thesis the phenotypic expressions, with emphasis on the electrophysiological findings, of five different juvenile hereditary retinal degenerations are described. The diagnoses have been confirmed by genetic analysis. The retinal disorders presented are all caused by mutations in genes identified during the last six years. UNSPECIFIED link UNSPECIFIED No Faculty of Medicine Department of Ophtalmology UNSPECIFIED UNSPECIFIED
Clinical expression of Best Vitelliform Macular Dystrophy in Swedish families with mutations in the bestrophin gene.
Ophthalmic Genetics 1999; 4: 251-257.

70. Ophthalmology (Eye Diseases)
Intensive Care Medicine Endocrinology ENT (Ear, Nose Throat Diseases) Gastroenterology Hepatology Human genetics Health Care achromatopsia Network.
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The Web (partial) CDC WHO FDA NIH CATEGORIES Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: Home
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... SUBCATEGORIES Up Ophthalmology Books Blindness Amblyopia Deafblindness ... Ophthalmology Associations powered by A merica M edica, I nc. New York City

71. Corneal Dystrophies
Advances in The Molecular genetics of Corneal Dystrophies Information about keratoconus,including FAQs Home Up achromatopsia Adie's Syndrome
Health-Nexus.Net Health-Nexus.Org The #1 Health information site
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Corneal Dystrophies
Corneal Dystrophies - Corneal Dystrophies There are a number of heritable corneal dystrophies that are characterized by the accumulation of abnormal material in the cornea. These diseases are typically classified depending on which of the three levels of the cornea they...
Corneal Dystrophies, Hereditary
Macular Corneal Dystrophies Research at the Duke Center for Human Genetics
- Gives general description of macular corneal dystrophies and results of research by Duke Center for Human Genetics.
Corneal Dystrophy factsheet
- The globe of the eye is made of five layers and the cornea is the transparent front portion. It is also the most sensitive structure in the body because of the density of nerves.

72. - Neuroscience Professional Organizations And Meetings
achromatopsia Network. Acoustic Neuroma Association. Biochemical GeneticTests (specialized biochemical genetics tests for various diseases).

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Professional Organizations and Meetings
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World Wide Web sites of basic and clinical neuroscience professional organizations and of basic and clinical neuroscience meetings are included in the pages of this section. Organizations and meetings for neuroscientists, medical professionals, other health care professionals, patients, and their families are listed.
Professional Organizations
Disease Information and Support
Achromatopsia Network Acoustic Neuroma Association Acoustic Neuroma Association (includes meeting information, support groups, contact information, and links) Action on Disability within Ethnic Communities (ADEC - represents the rights and needs of people of non-English speaking background with a disability and their careers by providing advocacy, information, referral, education, and training) ... Young Adults With Narcolepsy To Table of Contents of This Page To the Top of This Page Neurosciences on the Internet

73. MCDB 3280 - Class Presentation Links
Kohl et al. (2002) Mutations in the cone photoreceptor Gprotein alpha-subunitgene GNAT2 in patients with achromatopsia. Am. J. Human genetics. 71422-25.
Molecular Cell Physiology - MCDB 3280 3280 Home
Unit 9 - G-protein Signalling Pathways Extracellular to Intracellular Signalling Mechanisms G-protein Related Signalling - The Movies
click picture to play movie
opens in a new window. file - 17MB g-protein cascade movie protein kinase movie
Review of the Basic Schema G-Protein Coupled Receptors -GPCRs The GPCR superfamily of related receptors make up 1-3% of a typical mammalian genome. The generic GPCR has an extracellular binding region, 7 transmembrane helices and an intracellular binding region. Rhodopsin, the photopigment of retinal rods, is the first (and as of October 2002 the only) completely solved GPCR high-resolution crystal structure. Here is a representation of its actual geometry in the membrane Rhodopsin is unique because its agonist, 11-cis retinal, is actually bound to it in an inactive state shown in red above, and isomerizes to the active all-trans configuration upon absorbing a photon. More about this in a later lecture. The rhodopsin structure has already been used to model parts of other GPCRs, such as the muscarinic acetylcholine receptor. The next figure shows how binding of acetylcholine to the extracellular face of the receptor causes a configuration change. In the unbound state on the left the amino acids in green and in blue (spacefill) associate via weak bonds to hold the helices in a closed configuration. Note how binding of acetylcholine (CPK colors) disrupts the weak bonds and brings about movement of the helices.

74. Articles Vision And Eyes 2000 - 2003
announcing the finding of the gene, which appears in the July issue of the journalNature genetics. Total colorblindness is called complete achromatopsia.
Articles Vision and Eyes 2000 - 2003
The Human Eye Can Self-correct Some Optical Faults Sceince daily - February 2003 Researchers report finding genetic mutation linked to cataracts June 2002 - Nando News Newborns Know How to Make Eye Contact June 2002 - Yahoo Futuristic System Brings Vision To Blind Artificial Eye Device - Science Daily June 2002 Eye drops delay glaucoma Eye drops used to treat glaucoma can significantly delay - and possibly stop - the disease developing in the first place, according to a new US study. Look in the eye reveals internal bleeding Blindsight Can Be Better Than Real Sight Primitive visual pathway that controls behavior without conscious vision New Guidelines on Who Should Get Laser Eye Surgery June 2002 - Reuters Bionic Retina Gives 6 Patients Partial Sight May 2002 - Reuters Frogs and humans see eye to eye April 2002 - ABC News - A Japanese embryologist has grown and successfully transplanted artificial frogs' eyes using a type of stem cell. Correcting Vision April 2002 - New Scientist FDA approves new surgery option for farsightedness April 2002 - Nando News Magnetic fluid 'could save sight' April 2002 - BBC Blind 'See' with Sound The photograph of the bridge, top, was translated into the middle outline and conveyed through music to a blind subject. The subject produced the bottom image of the bridge using the musical description.

75. Info-Doc Vol. 8, No 2 - NOUVELLES ACQUISITIONS
genetics of achromatopsia .The achromatopsia network newsletter. Vol. 3, no. 5 (May 1996).

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de l'Institut Nazareth et Louis-Braille avec la collaboration de l'École Jacques-Ouellette
Vol. 8. No 2, 4 e trimestre 1997
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  • Fleury, Yves. "Consultation RAAQ-RAAMM-livre adapté". Info-RAAQ. Vol. 18, n o 1 (janv./févr. 1996). p. 4-9.
  • LC-23 L-4092 Inform '92 (1992 : Birmingham, U.K.) Meeting the information needs of disabled people in Europe. [London, England] : Department of Health; [s.l.] : United Kingdom's Presidency of the European Community, 1992. 153 p. ou 141 p. (gros caractères) ou 2 cassettes sonores : 2 pistes.
  • Moreau, Pierre. "Les outils de communication : handicaps visuels et outils de communication". Réadaptation. N

76. Faculty Of 1000 | About
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification ofa Detection and integration of genotyping errors in statistical genetics.
Welcome guest user Subscription Info Institutional Access Free Trial F1000 walkthrough ...
Developing countries

Alejandro Schaffer
National Center for Biotechnology Information, National Institutes of Health, Bethesda, United States Biography Evaluations Biography
Schaffer AA, Yannakakis M: Simple Local Search Problems That Are Hard to Solve.
SIAM Journal on Computing 20:5687, 1991.
Cottingham Jr. RW, Idury RM, Schaffer AA:Faster Sequential Genetic Linkage Computations.
American Journal of Human Genetics 53:252263, 1993.
Dwarkadas S, Schaffer AA, Cottingham Jr. RW,Cox AL, Keleher P, Zwaenepoel W:
Parallelization of General Linkage Analysis Problems. Human Heredity 44:127141. 1994.
Gupta SK, Kececioglu J, Schaffer AA:Improving the Practical Space and Time Efficiency of the Shortest-Paths Approach to Sum-of-Pairs Multiple Sequence Alignment. Journal of Computational Biology 2:459472, 1995. Schaffer AA:Faster Linkage Analysis Computations for Pedigrees with Loops or Unused Alleles. Human Heredity 46:226235, 1996. Agarwala R, Biesecker LG, Hopkins KA, Francomano CA, Schaffer AA:

77. InScight - 27 June 2000 Colorblindness Gene Found In Pacific
trees, one of these survivors carried a recessive gene for achromatopsia, whichalso a gene called CNGA3, they report in the July issue of Nature genetics.

78. The FHCRC Dog Genome Project: References
Human Molecular genetics Paper Additional Information. Canine CNGB3 mutations establishcone degeneration as orthologous to the human achromatopsia locus ACHM3
DGP Home Markers Linkage Map Hybrids ... Links
Human Molecular Genetics Paper: Additional Information
Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA (2002) Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet Abstract Sequence Alignment Methods Tables Prepared by:

Last modified: 1-Aug-2002 Top of Page FHCRC Home Find It Fast Contact FHCRC ... Site Map
The information in this server is provided as a courtesy by the Fred Hutchinson Cancer Research Center in Seattle, Washington, USA.

79. Journal Articles: 1999
BL, AA Salam, SM Leal , Karayiorgou M (1999), Homozygosity mapping of the achromatopsialocus in the Pingelapese , American Journal of Human genetics , 641679
books meeting abstracts book chapters
  • Alkhateeb A, Al-Alami J, Leal SM , El-Shanti HE (1999),
    "Fine mapping and further evidence of locus homogeneity for Progressive Pseudorheumatoid Dysplasia",
    Genetic Testing, 3:329-333.
  • Annunen S, Paassilta P, Lohiniva J, Perala M, Pihlajamaa T, Karppinen J, Tervonen O, Kroger H, Lahde S, Vanharanta H, Ryhanen L, Goring HH, Ott J , Prockop DJ, Ala-Kokko L (1999),
    "An allele of COL9A2 associated with intervertebral disc disease",
    Science, 285(5426):409-412.
    Medline entry
  • Appukuttan B, Gillanders E, Juo SH , Freas-Lutz D, Ott S, Sood R, Van Auken A, Bailey-Wilson J, Wang X, Patel R, Robbins CM, Chung M, Annett G, Weinberg K, Borchert M, Trent JM, Brownstein MJ, Stout JT (1999),
    "Localization of a Gene for Duane's Retraction Syndrome to Chromosome 2q31",
    American Journal of Human Genetics
  • Barnes KC, Freidhoff LR, Nickel R, Chiu YF, SH Juo , Hizawa N, Naidu RP, Ehrlich E, Duffy DL, Schou C,Levett PN, Marsh DG, Beaty TH (1999),
    "Dense mapping of chromosome 12q13.2-q23.3 and linkage to Asthma and Atopy", Journal of Allergy and Clinical Immunology, 104:485-491.
  • 80. Achromatopsia; Treatment, Prevention, Cure
    achromatopsia Search here for information which may include treatment, diagnosis,prevention, support groups, email lists, messageboards, personal stories
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    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.

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