1. HUMAN GENETICS HUMAN GENETICS AUTOSOMAL RECESSIVE. Albinism. Beta Thalassemia. Cystic Fibrosis. Phenylketonuria. Sickle Cell Anemia. Tay Sachs http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

2. Defective Intracellular Transport And Processing Of OA1 Is A Major Human Molecular Genetics, 2000, Vol. 9, No. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Genetics Genetics Project Albinism http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Albinism Albinism view 98 KB version view 7 KB version. This is a patient who has albinism. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Albinism the basis of albinism in humans. We are a multidisciplinary group of researchers that include interests in clinical genetics, molecular http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Oculocutaneous Albinism Type 2 With A P Gene Missense Mutation In References 1. Spritz RA. Molecular genetics of human oculocutaneous albinism. Hum Mol Genet 1994;314691475Abstract. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. International Albinism Center the basis of albinism in humans. We are a multidisciplinary group of researchers that include interests in clinical genetics, molecular http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Arch Dermatol Abstract The Molecular Genetics Of Albinism And The molecular genetics of albinism and piebaldism. Y. Tomita Department of Dermatology, Akita University School of Medicine, Japan. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. MedlinePlus Medical Encyclopedia Albinism to top. Hypopigmentation; Oculocutaneous albinism; Ocular albinism Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. Albinism visit Online Mendelian Inheritance in Man or National Organization for Albinism and Hypopigmentation (NOAH) Return to Human Genetics homepage http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. U Of M: Department Of Genetics, Cell Biology And Development Oetting WS, albinism genetics, in Nature Encyclopedia of the Human Genome, NaturePublishing Group, London (in press). Oetting WS, Fryer JP, Shiriam S, http://www.gcd.med.umn.edu/html/faculty pages/oetting.html

Return to: College of Biological Sciences Medical School U of M Home One Stop ... MCB Home William S. Oetting Assistant Professor Areas of Research Research Techniques Research Interests Selected Publications ... Related Links Mailing Address: University of Minnesota Department of Genetics, Cell Biology, and Development 6-160 Jackson 321 Church St. SE Minneapolis, MN 55455 USA Education: Ph.D., University of Nebraska Office: 4-136 Moos Tower P:612-624-1139 F: 612-624-6645 Email: bill@lenti.med.umn.edu Oetting Lab: 5-180 MCB P: 612-625-5628 GCRC Lab: 4-136 Moos Tower P: 612-624-4929 Areas of Research Strength: Molecular analysis of albinism Analysis of complex genetic disorders back to top Research Techniques: STRP genotyping SNP analysis DNA sequencing back to top Research Interests: Oetting's research involves two major areas: the molecular analysis of pigment genes in humans, particularly those genes associated with oculocutaneous albinism (OCA), and the molecular analysis of genes

12. UV Blocking Products Site Map Index 7 albinism disease albinism disorder genetic albinism famous people albinism foranimal albinism gene albinism genetics http://www.sunfriendlyproducts.com/7/

13. WWW.EHGONLINE.NET albinism genetics, Level 2, William S Oetting, University of Minnesota.Allelic and locus heterogeneity, Level 2, Charles R Scriver, McGill University http://www.ehgonline.net/genesDisease.asp

Genes and Disease 3’UTR mutations and human disorders Level 2 Jean-Dominique Vassalli, Université de Genève Activating and inactivating mutations in the GNAS1 gene Level 3 Richard C Trembath, University of Leicester Adeno-associated viral vectors in gene therapy Level 2 Arun Srivastava, Indiana University School of Medicine Adenoviral vectors in gene therapy Level 2 Frank L Graham, McMaster University Aging: genetics Level 2 Bastiaan Johannes Zwaan, Institute for Evolutionary and Ecological Sciences Albinism: genetics Level 2 William S Oetting, University of Minnesota Allelic and locus heterogeneity Level 2 Charles R Scriver, McGill University Allelic spectrum of human genetic disease Level 2 Kenneth M Weiss, Penn State University Alpha 1-antitrypsin deficiency Level 2 Diane W Cox, University of Alberta Androgen insensitivity Level 2 Albert O Brinkmann, Erasmus University Rotterdam Antisense and ribozymes Level 2 Kevin J Scanlon, Keck Graduate Institute Apoptosis and the cell cycle Level 2 Johanna Sjostrom, Helsinki University Hospital

14. NOAH — What Is Albinism? Type 1 albinism results from a genetic defect in an enzyme called tyrosinase . genetics of albinism. For nearly all types of albinism both parents must http://www.albinism.org/publications/what_is_albinism.html

What is Albinism? Download the pdf version. Requires Adobe Acrobat Reader The word "albinism" refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 in the U.S.A. has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Often people do not recognize that they have albinism. A common myth is that by definition people with albinism have red eyes. In fact there are different types of albinism, and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. Vision Problems People with albinism always have problems with vision, and many have low vision. Many are "legally blind," but most use their vision for reading, and do not use braille. Some have vision good enough to drive a car. Vision problems in albinism result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. It is the presence of these eye problems that defines the diagnosis of albinism. Therefore the main test for albinism is simply an eye exam.

15. NOAH — Information For Students Writing A Report On Albinism albinism is a group of genetic conditions that causes a lack of pigment. For more information on the genetics of albinism, see the NOAH Information http://www.albinism.org/faq/report.html

Information for Students Assigned a Report on Albinism What is albinism? Where can I find facts about albinism? What do people with albinism look like? What is it like to have albinism? ... I Read EVERYTHING here and I still have questions about albinism. How can I contact NOAH? What is albinism? Albinism is a group of genetic conditions that causes a lack of pigment. It can effect only the eyes (ocular albinism) or both the eyes and skin (oculocutaneous albinism). Most types of albinism are inherited when an individual receives the albinism gene from both parents. The exception is one type of ocular albinism, which is passed on from mothers to their sons. For more information on the genetics of albinism, see the NOAH Information Bulletin What is Albinism Top Where can I find facts about albinism? Top What do people with albinism look like? While most people with albinism have very light skin and hair, not all do. In less pigmented types of oculocutaneous albinism, (the type of albinism that affects both the skin and the eyes), hair and skin are cream-colored. In types with slight pigmentation, hair appears more yellow or red-tinged People with ocular albinism (albinism that only affects the eyes) usually have normal or only slightly lighter than normal physical appearance. A common myth is that by definition people with albinism have red eyes. In fact there are different types of albinism, and the amount of pigment in the eyes varies. Most individuals with albinism have blue eyes. Some have hazel or brown eyes. See

16. Albinism - Wikipedia, The Free Encyclopedia genetics. Oculocutaneous albinism is the most severe form of the condition. Cats can carry genetic albinism, resulting in white fur and blue eyes. http://en.wikipedia.org/wiki/Albinism

Albinism From Wikipedia, the free encyclopedia. Albinism (from Latin albus , meaning "white") is a lack of pigmentation in the eyes, skin and hair. It is an inherited condition resulting from the combination of recessive genes passed from both parents of an individual. This condition is known to affect mammals, fish, birds, reptiles, and amphibians. The gene which results in albinism prevents the body from making the usual amounts of a pigment called melanin . Albinism is typically categorised as Tyrosinase positive or negative. In cases of Tyrosinase positive albinism, the enzyme tyrosinase is present but is unable to enter pigment cells to produce melanin. In tyrosinase negative cases, this enzyme is not produced. There are many genes which are now scientifically proven to be associated with albinism (or better: alterations of the genes). All alterations, however, lead to an alteration of the melanin (pigment/coloring) production in the body. Melanin helps protect the skin from ultraviolet light coming from the sun (see human skin color for more information). Organisms with albinism lack this protective pigment in their skin, and can burn easily from exposure to the sun as a result. Lack of melanin in the eye also results in problems with vision unrelated to

17. Albinism Image that s a link to genetics Education Center Support Page. albinism.National Organization for albinism and Hypopigmentation (NOAH) PO Box 959, http://www.kumc.edu/gec/support/albinism.html

Albinism National Organization for Albinism and Hypopigmentation (NOAH) PO Box 959, East Hampstead, NH 03826-0959 Phone: 800 473-2310, Phone and Fax: 603 887-2310 Web site: http://www.albinism.org/ Albinism World Alliance (AWA) , network of albinism support groups in various countries, founded in 1992, representatives from Australia, Canada, Tanzania, the United Kingdom, the United States of America, Germany, Mali, Malawi, the Netherlands, Puerto Rico, Norway, South Africa,and others International Albinism Center , University of Minnesota Vision of Children Foundation , San Diego, hereditary childhood blindness, x-linked ocular albinism, other blindness Albinism , Netherlands, includes drawings of effects on eye Assosiation For Albinism (NFFA), Norway Hermansky Pudlak Syndrome Network Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members National Health Information Center Online Mendelian Inheritance in Man (OMIM), albinism Redefining Beauty , Life Magazine, http://www.rickguidotti.com/

18. Genetics Education Center The genetics Education Center, for educators interested in human genetics and BBC stories and online activities, genetics basics, Clone Zone, albinism, http://www.kumc.edu/gec/

Genetics Education Center University of Kansas Medical Center For educators interested in human genetics and the human genome project Human Genome Project Resources (books, videos, curricula) Lesson Plans Networking Genetic Conditions Careers ... Search The Human Genome Project National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Human Genome Project Glossary of Genetic Terms Educational Resources Genetic Variation ... Department of Energy Human Genome Program (DOE), Education Human Genome Research Molecular Genetics Primer Science Behind the Project ... The Human Genome Project: Exploring Our Molecular Selves , Multimedia Education Kit, NHGRI, DOE, Science, Nature, HHMI, Pharma, ASHG Genome Gateway , Nature Publishing Company Human Genome , National Center for Biotechnology Information (NCBI) of the National Library of Medicine (NLM) Human Genome Teacher Networking Project - Univ. Kansas Medical Center Human Genome Project Resources - background, goals, developments

19. Mendelian Genetics Mendelian genetics. Mendel s first hypothesis was that Alternative versions of An albino mouse has two alleles for albinism labeled c and a certain http://www.geocities.com/mousedomousery/genetics/mendel.html

Mendelian Genetics Mendel's first hypothesis was that " Alternative versions of genes account for variations in inherited characters. " What he was talking about were alleles, or different versions of genes that affect the same characteristic. His second hypothesis was that, " For each character, an organism inherits two genes, one from each parent ". This was refers to the fact that when somatic cells are produced from two gametes, one comes from each parent. The alleles are either the same, or they are different. His third hypothesis, stems directly from the second, " If the two alleles differ, then one, the dominant allele, is fully expressed in the organism's appearance; the other, the recessive allele, has no noticeable effect on the organism's appearance. " Finally his fourth hypothesis is that " The two genes for each character segregate during gamete production, " which refers to the fact that each reproductive cell has only one of each pair of alleles, which will meet up with its pair when the reproductive opposites meet up and create a new organism. Mendel's work was with peas, and most schoolchildren learn a little of Mendel's theories in school. However we will go into much greater depth, and apply this information specifically to mice.

20. Children Of An Albino Often, the genetic counselor acts as an interpreter for the medical informationand a genetics of albinism on the following web site from The National http://www.newton.dep.anl.gov/askasci/mole00/mole00325.htm

Ask A Scientist Molecular Biology Archive Children of an Albino Sunday, September 08, 2002 Back to General Science Topics Ask A Scientist Index NEWTON Homepage Ask A Question ... NEWTON is an electronic community for Science, Math, and Computer Science K-12 Educators. Argonne National Laboratory, Division of Educational Programs, Harold Myron, Ph.D., Division Director.

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