21. NOAH Health Topics Index By Alphabetical Search Abstinence Accident Prevention Achalasia Achilles Tendonitis achromatopsia AcneAcoustic Cancer Pain Cancer - Prevention Cancer genetics Cancer Fatigue http://www.noah-health.org/english/toclist.html

NOAH Subject Index Subject Search in Alphabetical Order A B C D ... Z A Ab Ac Ad Af ... Autism Autoimmune Inner Ear Disease Avascular Necrosis B Ba Bc Be Bi ... Bursitis, Knee C Ca Ce Ch Ci ... Cysts, Arachnoid D Da De Di Do ... Dystonia E Ea Eb Ec Ee ... Eye Socket Fractures F Fa Fe Fi Fl ... Fungus G Ga Ge Gi Gl ... Gums (Periodontics) H Ha He Hi Ho ... Hysteroscopy I Ig Il Im In ... Inguinal Hernia Inner Ear Disease, Autoimmune /A> Internet, Evaluating Health Information Interruption of the Aortic Arch Intertrigo Interstitial Cystitis ... Ivy,(Poison) J Ja Je Ju Jaundice ... Juvenile Retinoschisis (X Linked) K Ka Ke Ki Kl ... Kyphosis L La Le Li Lo ... Lymphomas (Leukemia Society of America) Updated: April 1, 2003 Subject Search in Alphabetical Order A B C D ... Z NOAH is an information guide only and cannot answer personal health-related or research questions. NOAH's information has been culled from a variety of consumer health resources; it is offered to you with the understanding that it not be interpreted as medical or professional advice. All medical information needs to be carefully reviewed with your health care provider. This page has been published by the NOAH team.

22. 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

23. Gene Mutation For Color Blindness Found (References And Sources): Science News O Further Readings Hussels, IE, and NE Morton. 1972. Pingelap and Mokil atolls; achromatopsia.American Journal of Human genetics 24304. Kohl, S., et al. 1998. http://www.sciencenews.org/20000722/note10ref.asp

Home page. Math Trek Turtle Tracks Food for Thought Chocolate Therapies (with recipe for Janet’s Chocolate Medicinal Mousse Pie) Science Safari A Curie-ous Tale TimeLine 70 Years Ago in Science News Week of July 22, 2000; Vol. 158, No. 4 Gene mutation for color blindness found Studies of the people on the Pacific island of Pingelap have revealed the mutation for the color blindness achromatopsia, perhaps paving the way for genetic screening. References: Sundin, O.H., et al . 2000. Genetic basis of total colourblindness among the Pingelapese islanders. Nature Genetics 25(July):289. Further Readings: Hussels, I.E., and N.E. Morton. 1972. Pingelap and Mokil atolls; Achromatopsia. American Journal of Human Genetics Kohl, S., et al . 1998. Total colourblindness is caused by mutations in the gene encoding the a -subunit of the cone photoreceptor cGMP-gated cation channel. Nature Genetics Sacks, O. 1997. The Island of the Colorblind . New York: A.A. Knopf. Sheffield, V.C. 2000. The vision of Thyphoon Lengkieki. Nature Medicine 6(July):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 [**][P] Online Mendelian Inheritance in Man OMIM ... GeneClinics List of all the diseases described in the GeneClinics 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. Links Of Interest In Embryology And Developmental Biology Nursing Health and Medicine Developmental (Pediatric) Neurosurgery Information Links Musculoskeletal Diseases (Mega-Portal) ... 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. B PARENTS EXCHANGE Genetics /b Intro to Genetic Testing The achromatopsia Network What is Albinism? genetics TreacherCollins Syndrome Trisomy Organization Turner's Syndrome Wilson's Disease http://members.tripod.com/~pex/genetics.html

Get Five DVDs for $.49 each. Join now. Tell me when this page is updated Intro to Genetic Testing The Achromatopsia Network Get Five DVDs for $.49 each. Join now. Tell me when this page is updated Intro to Genetic Testing The Achromatopsia Network ... Return to Disability List

26. Genetics - Immanuel College Library Resource Centre disorders and diseases General Resources Genetic diseases achromatopsia Cancer geneticsAlbinism Site HHMI's Blazing a Genetic Trail Birth defects and genetics. http://www.schools.ash.org.au/immanuel/htm/genetics.htm

Genetics Cloning Check out the Genetics pathfinder for help with your research General Genetic Science Learning Center Genetics/Biotechnology Theme Biotechnology Australia Links to the Genetic World ... Mutant Fruit Flies: Exploratorium Exhibit 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 Why Is the Human Genome Project Studying It? Genetically modified food Bioethics.net Bioethics: Journal of the International Association of Bioethics Genetically Engineered Food Genetically Modified Food: UK and World News ... Genetically engineered food - Safety Problems Genetic disorders and diseases General Resources Genetic diseases Achromatopsia Albinism ... Birth defects and Genetics Back to Library Home Page Back to Biology Back to Social issues 2001 Immanuel College Library Resource Centre Last revised 26th September 2002 URL for this page is http://www.schools.ash.org.au/immanuel/htm/genetics.htm Jenni van Wageningen jvanwageningen@immanuel.sa.edu.au

27. Genetics - Immanuel College Library Resource Centre and diseases General Resources Genetic diseases achromatopsia Cancer geneticsAlbinism on Mutant Genes and Hereditary Diseases Birth defects and genetics. http://www.schools.ash.org.au/immanuel/htm/htm/genetics.htm

Genetics General Genetic Science Learning Center Genetics/Biotechnology Theme Biotechnology Australia Links to the Genetic World ... Mutant Fruit Flies: Exploratorium Exhibit Human genetics CogPrints: Cognitive Science Eprint Archive OMNI Subject Listing for Genetics American Journal of Human Genetics Cloning: Are Humans Next? ... What Is DNA and Why Is the Human Genome Project Studying It? Genetically modified food Bioethics.net Bioethics: Journal of the International Association of Bioethics Genetically Engineered Food Genetically Modified Food: UK and World News ... Genetically engineered food - Safety Problems Genetic disorders and diseases General Resources Genetic diseases Achromatopsia Albinism ... Birth defects and Genetics Cloning Cloning: Are Humans Next Ethics Updates Genome Database Human Genetics ... Genomics: a global issue Back to Library Home Page Back to Biology Back to Social issues 2001 Immanuel College Library Resource Centre Last revised 12th June 2001 URL for this page is http://www.immanuel.sa.edu.au/library/htm/genetics.htm

28. Bio 102: Human Genetics Course Syllabus-Fall 2001 al. (1999) Homozygosity mapping of the achromatopsia locus . Am.J. Hum. Genet. begins. Nature genetics 31 235. Cases, O. et al. http://ase.tufts.edu/biology/courses/bio102/syllabus102.html

Bio 102: Human Genetics Course Syllabus-Fall 2002 The text is Human Molecular Genetics, 2nd edition , by Strachan and Read. In addition to readings in the book listed above, there will be many readings of original papers and review articles that are on reserve at Tisch Library. At first, you may find it difficult to read an original paper, but the ability develops with practice and it is one of the most important things to be learned in this course. When reading a research paper, read each word. Look at each table and figure and ask yourself: Why did they do this, how did they get these results, and what do the results tell the reader? Papers are on reserve at Tisch Library. One copy of each paper can also be found in a yellow folder in the Biology Department reading room. Almost all of the assigned papers are available online through a computer on the Tufts' network. On the Tisch Library's website you will find a list of available "electronic" journals. If you have difficulty finding an article online, ask for help at the reference desk at Tisch Library. Papers available online can be printed using a printer at Tisch Library or your computer's printer if you are connected to the Tufts' network. When printing out a paper, be sure that you print the figures and tables in a large enough format.

29. Clinical Features Of Achromatopsia In Swedish Patients With Defined Genotypes Ophthalmic genetics 2002, Vol.23, No.2, pp. 109120, 1381-6810/02/2302-109$16.00© Swets Zeitlinger. Research report. Clinical features of achromatopsia in http://www.szp.swets.nl/szp/journals/og232109.htm

Ophthalmic Genetics 2002, Vol.23, No.2, pp. 109-120 Research report Clinical features of achromatopsia in Swedish patients with defined genotypes Louise Eksandh , Susanne Kohl and Bernd Wissinger University Hospital, Department of Ophthalmology, Lund, Sweden University Eye Hospital, Molekulargenetisches Labor, Tuebingen, Germany Keywords: Achromatopsia , rod monochromacy , blue-cone monochromacy , full-field ERG , CNGA , CNGB3 , phenotype .

30. Journals Ophthalmic genetics. Louise Eksandh, Susanne Kohl and Bernd Wissinger Clinicalfeatures of achromatopsia in Swedish patients with defined genotypes. http://www.szp.swets.nl/szp/journals/og232.htm

Ophthalmic Genetics Volume 23 Number 2 2002 Richard G. Weleber Infantile and childhood retinal blindness: A molecular perspective (The Franceschetti Lecture) Wojciech Lubinnski, Krzysztof Penkala, Olgierd Palacz, Stanisllaw Zajaczek, Jan Lubinski and Zbigniew Sych Electroretinographic changes in the inner retinal layers of the retained eyes of patients with sporadic unilateral retinoblastoma Louise Eksandh, Susanne Kohl and Bernd Wissinger Clinical features of achromatopsia in Swedish patients with defined genotypes M. Ata-ur-Rasheed, Geeta K. Vemuganti, Santosh G. Honavar, Chitra Kannabiran, Niyaz Ahmed and Seyed E. Hasnain Mutational analysis of the RB1 gene in Indian patients with retinoblastoma Yasuo Yanagi, Hisaki Sekine and Mikiro Mori Identification of a novel VMD2 mutation in Japanese patients with Best disease Saskia M. Imhof, Lex Bouter, Willem den Otter, Jan Willem Koten and Annette C. Moll An infant with Down syndrome and retinoblastoma. A possible non-fortuitous association

31. Colour Vision Defects Designed to inform people about colour blindness, and is focused on how a person with colour blindness Category Health Conditions and Diseases Color Blindness...... genetics of colour blindness Physiological factors that affect colour vision Moreon colour vision impairments and careers Do you see what I see? achromatopsia http://www.geocities.com/HotSprings/8018/

Welcome to my homepage on colour vision defects! This is a page of info, designed to be a huge assignment for my course, so it may not be to everyone's taste. But if you're in here looking for info about all types of colour vision defects, hopefully you'll find what you're looking for! This home page is designed to inform people about colour blindness, and is focused on how a person with colour blindness will be affected by the condition in career choices. Here are some links that will attempt to answer most of your questions! What is colour vision? So what is a colour vision defect? How does the brain see colour? What is the difference between inherited and acquired colour blindness? ... A little about me! Links to some other helpful sights on the Web! The evolution of trichromatic vision A more detailed explanation for the genetics of colour blindness Physiological factors that affect colour vision More on colour vision impairments and careers ... Check out my guest book! people have visited this home page. This page hosted by Get your own Free Home Page This Official GeoCities GeoGuide Web Ring homepage is maintained by sillysass Surf The Ring By Using The Links Below Previous 5 Skip Previous Previous Next ... List Want To Join This Ring and get more hits for your page?

32. Training Program Guide - 70: BOSTON UNIVERSITY SCHOOL OF MEDICINE Waardenburg syndrome, nonsyndromic deafness, achromatopsia, hereditary osteoarthritis,cystic fibrosis variants, autism, cancer genetics, immunogenetics and http://www.ashg.org/genetics/ashg/pubs/tpguide/tpgg70.htm

May 2002: Last posted update of program information supplied by institution. If applicable, accreditation has been confirmed as of November 2002. BOSTON UNIVERSITY SCHOOL OF MEDICINE Center for Human Genetics Degree granted: Ph.D. in Human Genetics Training available: Doctoral, M.D. postdoctoral, Ph.D. postdoctoral Current enrollment: 1 doctoral, 1 M.D. postdoctoral, 3 Ph.D. postdoctoral Number of graduates in last 2 years: 1 M.D. postdoctoral, 3 Ph.D. postdoctoral Faculty status: 2 M.S., 7 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 ACGME accreditation: Clinical 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

33. Wilmer History Timeline islanders and the discovery of the achromatopsia gene by Olof H. Sundin, Ph.D., butalso groundbreaking work in the new fields of molecular genetics and biology http://www.wilmer.jhu.edu/history/genetics.html

When Irene Maumenee, M.D., the Ort Family Professor of Ophthalmology, founded the first Center for Hereditary Eye Diseases at Wilmer, she helped establish an area of ophthalmic research which today includes not only her classic studies of achromatopsia (lack of color vision) among Micronesian islanders and the discovery of the achromatopsia gene by Olof H. Sundin, Ph.D., but also groundbreaking work in the new fields of molecular genetics and biology, pursued in several laboratories throughout the Institute. The goal of the molecular researchers is to develop new tools to diagnose, prevent, and even cure major blinding diseases such as age-related macular degeneration and diabetic retinopathy For example, the laboratory of Peter A. Campochiaro, M.D., the George S. and Dolores Dora Eccles Professor of Ophthalmology, is investigating, among many other topics, the role of vascular endothelial growth factor in macular degeneration and diabetic retinopathy, and the possibility of stopping abnormal blood vessel growth using an oral medication. Dr. Campochiaro and Betsy Campochiaro, R.N., his wife, together with Donald Zack, M.D., Ph.D., have launched the Wilmer Genetic Study of Macular Degeneration, involving DNA analysis of thousands of people over several years. They have recently discovered genetic mutations involved in the disease.

34. The Johns Hopkins Center For Hereditary Eye Diseases for the genes causing Leber’s congenital amaurosis, achromatopsia, and nystagmus. IreneH. Maumenee, MD developed the subspecialty of ophthalmic genetics. http://www.wilmer.jhu.edu/research/hered.htm

The Johns Hopkins Center for Hereditary Eye Diseases An International Referral Center for Genetic Eye Diseases and Ocular Diseases of Childhood Many eye diseases have a genetic component; similarly, many genetic diseases and birth defects have significant ocular pathology. Irene H. Maumenee, M.D The Laboratory of the Johns Hopkins Center for Hereditary Eye Diseases has developed a DNA registry and receives specimens from all over the world. Sophisticated tests performed in the laboratory include those for diseases such as oculocutaneous albinism, retinitis pigmentosa and other hereditary retinal dystrophies, retinoblastoma, colobomatous malformations, anterior segment malformations, storage diseases, familial retinal detachments (including Norrie disease), congenital cataracts, dislocated lenses, and congenital glaucoma. The Center's laboratory will soon offer clinical DNA diagnosis of some genetic eye diseases, including affection, carrier status and prenatal diagnosis. More than 55 fellows have been trained in the Johns Hopkins Center for Hereditary Eye Diseases; many have established similar centers in the USA and abroad.

35. Pingelap: Island Of The Colorblind at The Johns Hopkins University reported in the July 2000 issue of Nature genetics(25 289293) that Pingelapese islanders with achromatopsia have a single http://serendip.brynmawr.edu/biology/b103/f01/web3/wise.html

This paper was written by a student in a course at Bryn Mawr College, and reflects that student's research and thoughts at the time the paper was written. Like other things on Serendip , the paper is not intended to be "authoritative" but is instead provided to encourage others to themselves learn about and think through subjects of interest, and, by providing relevant web links, to serve as a "window" to help them do so. Web links were active as of the time the paper was posted but are not updated. 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

36. CVNet: CVNet - Postdoc; Genetics Of Photoreceptors; Tuebingen and aquired retinal disorders (eg, Xchromsome-linked colourblindness, achromatopsia). Recentpublications include Nature genetics (1998, 19, 257-259) and 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) “Genotyping and Phenotyping of Human Cone Photoreceptors” within a DFG Special Research Project (SFB 430) “Cellular mechanisms of sensory processes and neuronal interaction”. 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 Tübingen 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).

37. GENETICS and the disease's relation to genetics. Phenylketonuria brief definition; goodfor Middle School students. top. Color Blindness. The achromatopsia Network. http://207.239.98.44/genetics_project.htm

GENETICS PROJECT For resources from the Bryn Mawr Library, click on Bibliography . Also, search on SIRS Discoverer and ProQuest, which are periodical subscription databases accessible from the library's main page. Go to "Virtual Internet Library," then "Online Resources." Using the resources provided, you should be able to determine the causes, symptoms, treatments, and the ways they are inherited for the following genetic disorders: Websites useful for more than one disease Achondroplasia (dwarfism) Neurofibromatosis (elephant man's disease) Albinism ... Huntington's Disease Websites Useful for More than One Topic: DNA from the Beginning, an Animated Primer on the Basics of DNA, Genes, and Heredity - Prepared by the Dolan DNA Learning Center, Cold Spring Harbor, NY. Gene Map of the Human Genome - National Institute of Health information Genetic Counseling: Coping with the Human Impact of Genetic Disease Genetic Defect Information - March of Dimes Genetic /Rare Conditions - University of Kansas Medical Center Genetic Science Learning Center well-organized site includes information on many different aspects of genetics; good for Middle School Students

38. Molecular And Cellular Biology Faculty/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/faculty/ostrandere.htm

Ostrander, Elaine A. Member, Divisions of Human Biology and Clinical Research, Fred Hutchinson Cancer Research Center Affiliate Professor, Departments of Zoology and Molecular Biotechnology, Univ. of WA. (Ph.D. Oregon Health Sciences University) Key Words: cancer, genetics, comparative genetics, prostate cancer, breast cancer, cancer susceptibility, linkage analysis, dogs, canines, mapping Email: eostrand@fhcrc.org Office: D4-100 Office Phone: (206) 667-6979 Office Fax: (206) 667-6396 Lab: D4-359 Fred Hutchinson Cancer Research Center Lab Phone: 206-667-6980 Lab Fax: 206-667-6396 *Use the COS link for a complete description of research and for an updated bibliography with abstracts We are also interested in the role of prostate and breast cancer genes in human populations within both high risk families and the general population. With regard to the first we and our collaborators have undertaken a genome wide scan for cancer genes in a cohort of 254 high risk prostate cancer families. Genotyping of both affected and unaffected family members for all 254 families is complete and data analysis is underway. Published analyses of our data thus far have shown that prostate cancer is extremely heterogeneous, and that multiple loci are likely to be important. Stratification of families by clinical features of disease and family history are clearly two ways in which to simplify the problem. We recently published a genome wide scan of our first 94 families, which highlighted regions on chromosome 11 and 1 as potentially containing prostate cancer susceptibility loci.

39. Untitled Document Educational Resources. genetics of complex heritable diseases DISEASES AND CONDITIONS;DATABASE DISEASES; achromatopsia. Leber Hereditary Optic Neuropathy. http://www.rusmedserv.com/genetics/catalog/indcat.htm

GENETIC CATALOG GENERAL ASPECTS (New) General Genetics General WWW Resources Genetically modified organisms Geneticists ... HISTORY (New) EUGENICS (New) (New) Genetic Societ Regional Centres EDUCATION RESOURSES (New) DEPARTMENTS OF HUMAN GENETICS (New) JOURNALS WITH GENETICS CONTENT (New) Journals List Search Genetics Journals Biological and Biomedical Journalsls Medical and Clinical Journals ... PREIMPLANTATION DIAGNOSIS

40. 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.

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