21. Color Blindness Inheritance Inheritance achromatopsia is a recessive inherited condition http//www.lowvision.org/achromatopsia_and_color_blindnes.htmMedical genetics X-linked http://101investor.com/z/retirement-planning/color-blindness-inheritance.html

22. Press Releases - Nature Genetics Nature genetics pp 289 293 and pp 746 - 747. The mutation led to a condition knownas achromatopsia, or total colourblindness, in which affected individuals http://www.nature.com/ng/press_release/ng0700.html

@import "/ng/style.css"; NATURE.COM NATUREJOBS NATUREEVENTS Help USERNAME: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Press releases Journal home ... For librarians Please quote Nature Genetics as the source of these items. The July 2000 issue of Nature Genetics is available online. July 2000 Previous Next Counting sheep Nature Genetics pp 279 - 283 Ovulation - the periodic release of an egg cell from the ovary - is an essential process in mammalian reproduction. The action of the hormones involved in ovulation, such as luteinizing hormone and the ever-popular oestrogen and progesterone, is well understood, but how other factors influence it is less clear. In humans, as well as cattle and sheep, only one egg is normally released - which can sometimes split and give rise to identical twins. But if multiple ovulations take place simultaneously, several eggs can be fertilized and fraternal twins or even triplets can be conceived. Genetic factors have long been suspected to contribute to this process, but precisely what they might be has remained obscure. Years of animal breeding have led to the implication of genetic factors in the regulation of ovulation. For example, a tendency to produce fraternal twins and triplets at higher-than-normal frequency has been observed in specific breeds of sheep, such as the 'Inverdale' and the 'Hanna'. From breeding experiments, it is known that something on the X chromosome predisposes these sheep to multiple ovulations, but only when present in one copy - it causes infertility when an animal has two copies.

23. Nature Publishing Group month in Nature genetics, Sundin and colleagues 3 report the identification of thecausative gene for a fascinating disorder known as achromatopsia, a visual http://www.nature.com/cgi-taf/DynaPage.taf?file=nm/journal/v6/n7/full/nm0700_746

24. Birth Defects Genetics Teratology Other Key Information Sources includes A genetics Laboratory Directory  A genetics Clinic Directory SupportGroups Information Aarskog syndrome  achromatopsia  Acoustic neuroma http://ibis-birthdefects.org/start/inform.htm

Tips for printing Birth Defects - Genetics - Teratology Other Key Information Sources About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings A Selection of Internet Sites [*] Outstanding [P] For Professionals [French] [Italian] Information Sources 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 ...

25. Genetic Disorders on this genetic disorder What is achromatopsia fact sheet Online Medallion Inheritance- description, clinical features, molecular genetics and references http://www.wtps.org/wths/imc/Teacher_Assignment/science/cosgrove_genetic_disorde

Genetic Disorders and Traits Directions Books Databases General Resources ... Resources for Specific Disorders Due Date : Monday, April 3rd. An additional 5 points will be given to anyone who submits the report by Friday, March 31. Directions This assignment continues our study of genetic disorders. You are free to choose any disease or trait that is in your family where there is literature on the topic. However, the choice of topic is on a first come, first serve policy. Everyone gets their own topic, unique to their family. You should add a personal "flavor" to your report with a brief history of who in your family is afflicted with a disease or illustrates the trait or is a carrier for a trait. MLA Format is required for Works Cited and parenthetical citations (in-text documentation) See IMC Home Page The information to be included in this report is broken down in a rubric The report should be approximately 4-5 written pages, single space. You are required to use at least three sources of information on your family disease or trait. All sources should be current - no older than 5 to 7 years. Resources 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:

26. B.U. Bridge: Boston University Community's Weekly Newspaper or a related or contiguous gene. Researchers say that the discovery of a secondgene for achromatopsia provides new insights into the genetics of vision and http://www.bu.edu/phpbin/researchbriefs/display.php?group=bridge&date=1999-08-13

27. Color Blindness Periodicals Arbour, NC, et al. Homozygosity Mapping of achromatopsia to Chromosome2 Using DNA Pooling. Human Molecular genetics 1997 May; 6, no. 5 689694. http://www.ehendrick.org/healthy/000338.htm

MAIN SEARCH INDEX Color blindness Definition Description Causes and symptoms Diagnosis ... Resources Definition Color blindness is an abnormal condition characterized by the inability to clearly distinguish different colors of the spectrum. The difficulties can be mild to severe. It is a misleading term because people with color blindness are not blind. Rather, they tend to see colors in a limited range of hues; a rare few may not see colors at all. Description Normal color vision requires the use of specialized receptor cells called cones, which are located in the retina of the eye. There are three types of cones, termed red, blue, and green, which enable people to see a wide spectrum of colors. An abnormality, or deficiency, of any of the types of cones will result in abnormal color vision. There are three basic variants of color blindness. Red/green color blindness (deuteranopia) is the most common deficiency, affecting 8% of Caucasian males and 0.5% of Caucasian females. The prevalence varies with culture. Blue color blindness (protanopia) is an inability to distinguish both blue and yellow, which are seen as white or gray. Protanopia is quite rare and has equal prevalence in males and females. It is common for young children to have blue/green confusion that becomes less pronounced in adulthood. Blue color deficiency often appears in people who have physical disorders such as liver disease or

28. Extenza - Ophthalmic Genetics Ophthalmic genetics. Clinical features of achromatopsia in Swedish patients withdefined genotypes Authors Louise Eksandh, Susanne Kohl and Bernd Wissinger http://www.extenza-eps.com/extenza/contentviewing/viewJournalIssueTOC.do?issueId

29. Extenza - Clinical Features Of Achromatopsia In Swedish Patients With Defined Ge Ophthalmic genetics. Print ISSN 13816810 Volume 23 Issue 2 Page(s) 109 -120.Keywords. achromatopsia, rod monochromacy, blue-cone monochromacy, full-field http://www.extenza-eps.com/extenza/loadHTML?objectIDValue=10882&type=abstract

30. Genetics And Genetic Engineering General Resources, Genetic diseases. achromatopsia, Cancer genetics. HHMI sBlazing a Genetic Trail, Birth defects and genetics. Human 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

31. Achromatopsia (was: Color) From Joe Clark On 2003-09-12 (w3c-wai-gl@w3.org From according to Joel Pokorny, the prevalence of achromatopsia is reported to be 0.003%(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 joeclark@joeclark.org Date : Fri, 12 Sep 2003 14:52:58 -0400 (EDT) To w3c-wai-gl@w3.org Message-ID joeclark@joeclark.org http://joeclark.org/access/ http://joeclark.org/book/ Received on Friday, 12 September 2003 14:55:33 EDT 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 ... by messages with attachments Help How to use the archives Search in the archives This archive was generated by hypermail pre-2.1.9 : Wednesday, 24 September 2003 10:29:03 EDT

32. Genetics- PFLC Consumer Websites , NIH Office of Rare Diseases. , National Organization of Rare Disorders(NORD). -, achromatopsia Network. -, Alpha1 Antitripsin Deficiency Assoc. http://www.mgh.harvard.edu/pflc/c_genetics.asp

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

33. The Nucleus - Great Bio Websites Achondroplasia — Dwarfism http//www.usoe.k12.ut.us/curr/Science/core/bio/genetics/achondroplasia.htm;achromatopsia — Hereditary vision disorder http//www http://shs.westport.k12.ct.us/mdevito/great.html

Biology Glossary http://www.mhhe.com/sciencemath/forestryenviron/pae/glossary.html Cells http://www.cellsalive.com/ http://www.borg.com/~lubehawk/cell.htm Chemistry Periodic Table http://wild-turkey.mit.edu/Chemicool/ Organic Molecules http://www.borg.com/~lubehawk/biochem.html Chromosomes http://www.chromodisorder.org/intro.htm http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/C/Chromosomes.html Genetic Counselors http://gslc.genetics.utah.edu/units/disorders/counselors/ back to top Genetic Disorders Achondroplasia — Dwarfism http://www.usoe.k12.ut.us/curr/Science/core/bio/genetics/achondroplasia.htm Achromatopsia Hereditary vision disorder http://www.achromat.org/what_is_achromatopsia.html Albinism — Complete with extensive hyperlinks http://www.cbc.umn.edu/iac/facts.htm Alpha-1 Antitrypsin Deficiency — Information, 9 linked topics http://www.nhlbi.nih.gov/health/public/lung/other/antitryp.htm Alzheimer's disease: Genetic factors — Elementary http://gslc.genetics.utah.edu/units/newborn/infosheets/apoe.cfm

34. Faculty Information For Elaine Ostrander genetics of prostate cancer Too many loci, too few genes. Canine CNGB3 mutationsestablish cone degeneration as a homologue of Pingelapese achromatopsia. http://depts.washington.edu/mcb/facultyinfo.php?id=118

35. Training Program Guide - 70: BOSTON UNIVERSITY SCHOOL OF MEDICINE Specific research projects include molecular genetics of Waardenburg syndrome, nonsyndromicdeafness, achromatopsia, hereditary osteoarthritis, cystic fibrosis http://genetics.faseb.org/genetics/ashg/pubs/tpguide/tpgg70.htm

June 2003: Last posted update of program information supplied by institution. If applicable, accreditation has been confirmed as of January 2004. BOSTON UNIVERSITY SCHOOL OF MEDICINE Center for Human Genetics Degree granted: Ph.D. in Human Genetics [Dept. of Genetics and Genomics] Training available: Doctoral, M.D. postdoctoral, Ph.D. postdoctoral Current enrollment: 3 Ph.D. postdoctoral Number of graduates in last 2 years: 3 Ph.D. postdoctoral Faculty status: 3 M.S., 6 Ph.D., 2 M.D. Areas of concentration: Clinical genetics, cytogenetics, dysmorphology, genetic counseling, molecular genetics, prenatal diagnosis, teratology Clinical training fellowships: Clinical genetics, clinical molecular genetics, clinical cytogenetics ABMG accreditation: Clinical cytogenetics, clinical molecular genetics Financial support: NIH Funds Center Funds Application deadline: Open Contact: Aubrey Milunsky, M.D., D.Sc., Director, Boston University School of Medicine, Center for Human Genetics, 715 Albany Street, Boston, MA, 02118, Tel: 617-638-7083, Fax: 617-638-7092, E-mail: amilunsk@bu.edu Web homepage: http://www.bumc.bu.edu/hg

36. Val Sheffield, M.D., Ph.D. Sheffield (1997). Homozygosity mapping of achromatopsia to chromosome2 using DNA pooling. Human Molecular genetics 6(5) 689694. Nystuen 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.

37. Health Directory Achromatopsia Euthanasia Health Polycystic Kidney Symptom Depar health hygiene maryland mental state health observance unhealthy bioterrorism agedabuse see elder abuse fitness disease alzheimers genetics blood transfusions http://www.department-of-health.com/california-department-health-services-state-

health directory all natural solution department hawaii health state medical resource medical-errors-adult-polycystic-kidney incontinence-health-test city-department-health-ny-health-education city-point ... health education child safety

38. Hhs Holistic Medicine See Holistic Health Health Information Vegetarian Diet Nut coalition long term care news parkinson conditions krohns graduate school medicalresearch cancer journal unhealthy atoz health human genetics see genetics http://www.health-observance.us/achromatopsia-health-care-provider_467263.html

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39. Breast Self-examination Fitness Applied Journal Wellness Genetics Condition Publ medical errors article genetic eating flesh picture unhealthy center gym health carewellness family practice 2 spa nutrition achromatopsia fitness opportunity http://www.health-observance.us/nutrition-drug-heart_658342.html

seatbelts mental health living will unhealthy history of heart health condition health child guidelines early kidney symptom diseases care health plano womens health care department health services social state washington unhealthy heart risk factor disease medical errors department health human kansas services condition artificial heart public health albinism advantage s woman health information conditions-clinical-infectious-journal aging-journal-mental-health-care mouth-medical-errors early-lyme-symptom-health-information ... diagnostic-infectious-microbiology-health-education fitness horse skin department health us diseases national institute of medicaid fitness fellowships guide hortons tim unhealthy faber fitness fact lettuce prevention auburn center program food disease atoz health bowel mental health friday info tgi medical errors article genetic eating flesh picture unhealthy center gym health care wellness family practice 2 spa nutrition achromatopsia fitness opportunity group medical errors conditions pic venereal periodontal disease medical resource alzheimers and aluminum condition health risk constipation powell point health care county department health maricopa public lung symptom prevention gingivitis gum fitness brea health prevention advanced nutrition ppo see preferred provider organization mental health health education alzheimers genetic bowel symptom health care provider health condition county department health johnson kansas huntington huntingtons conditions medical resource parkinsons medicine america woman health condition arthritis rheumatoid medical service healthy viral sexually transmitted low birthweight first aid conditions treatment healthy independent living

40. Genetic Diseases Testing Counseling genetics and Medications (Pharmacogenetics) Living with GeneticDiseases Specific Conditions achromatopsia Adrenoleukodystrophy Aicardi http://health-megasite.com/articles/23/Genetic-diseases.html

Click here to find out everything that you could ever want to know about Genetic diseases , there is more information here than you ever dreamed of Sponsored Links Genetic diseases Here are some more sites that may be of interest: Title: Rare Genetic Diseases In Children Homepage http://mcrcr2.med.nyu.edu/murphp01/homenew.htm Description: Comprehensive directory of resources and Messaging Board for families of children with rare genetic diseases . ... Rare Genetic Diseases Title: RGDIC: Index Page http://www.med.nyu.edu/~murphp01/homenew.htm Description: NOTE:: The New URL is:- http://mcrcr2.med.nyu.edu/murphp01/homenew.htm Title: Welcome to Canadian Genetic Diseases Network http://www.cgdn.generes.ca/ Title: Eliminating Genetic Diseases in Dogs: A Buyer's Perspective http://www.k9web.com/dog-faqs/medical/genetic-diseases.html Description: Eliminating Genetic Diseases Title: Center for Jewish Genetic Diseases - Department of Human Genetics - Mount Sinai School of Medicine http://www.nfjgd.org/

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