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Achromatopsia Genetics: more detail |
61. 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 | |
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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 http://www.ddb.umu.se/forskning/bibliografi/artiklar.htm | |
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63. 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 | |
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64. BUMC: Current Research Current Research. The Center for Human genetics is involved in researchprojects for achromatopsia; Alzheimer's Disease; Autism; Arthritis; http://www.bumc.bu.edu/Departments/PageMain.asp?Page=2234&DepartmentID=118 |
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. http://www.chester.u-net.com/cvd/links.htm | |
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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. http://www.molvis.org/molvis/v5/a13/ | |
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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. http://www.uic.edu/com/eye/department/facultypages/Full Time Faculty/Fishman.htm |
68. Www.eyesite.co.za - 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 http://www.eyesite.co.za/library/index.asp | |
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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. http://eprints.lub.lu.se/archive/00009528/ | |
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70. Ophthalmology (Eye Diseases) Intensive Care Medicine Endocrinology ENT (Ear, Nose Throat Diseases) Gastroenterology Hepatology Human genetics Health Care achromatopsia Network. http://www.medlina.com/ophthalmology.htm | |
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71. Corneal Dystrophies Advances in The Molecular genetics of Corneal Dystrophies Information about keratoconus,including FAQs Home Up achromatopsia Adie's Syndrome http://www.health-nexus.com/corneal_dystrophies.htm | |
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72. Neuroguide.com - Neuroscience Professional Organizations And Meetings achromatopsia Network. Acoustic Neuroma Association. Biochemical GeneticTests (specialized biochemical genetics tests for various diseases). http://www.neuroguide.com/neuroproforg_1_disease.html | |
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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. http://mcdb.colorado.edu/courses/3280/lectures/class09-1.html | |
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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. http://www.crystalinks.com/healtheyes.html | |
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75. Info-Doc Vol. 8, No 2 - NOUVELLES ACQUISITIONS genetics of achromatopsia .The achromatopsia network newsletter. Vol. 3, no. 5 (May 1996). http://typhlophile.com/infodoc/8-2acqui.shtml | |
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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. http://www.facultyof1000.com/about/biography/976971242279359 | |
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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. http://www.academicpress.com/inscight/06262000/grapha.htm |
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 http://www.fhcrc.org/science/dog_genome/References/loweref.html | |
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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 http://linkage.rockefeller.edu/pub/1999.html | |
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80. 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 | |
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