101. Frequently Asked Questions - New York Eye & Ear Infirmary Ocular albinism is also an inherited condition where the eye is primarily affected. A person with ocular albinism can often have normal toned hair and http://www.nyee.edu/faqlist.html?tablename=faq&key=5&print=

102. BioEd Online Slides: Albinism, Sex-linked Traits, Pedigree, Genetics Developed by Baylor College of Medicine, BioEd Online provides upto-date teacher resources for biology educators. Site features include a PowerPoint slide http://www.bioedonline.org/slides/slide01.cfm?q=albinism

103. Digital Termpapers: Term Papers On Albinism albinism The word albinism refers to a group of inherited conditions. People with albinism have little or no pigment in. http://www.digitaltermpapers.com/a2098.htm

Term Papers Count: Home Join Login Sign Out ... Contact for: Albinism Term Paper Title Albinism # of Words # of Pages (250 words per page double spaced) Albinism 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 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. Albinism is found on the eleventh chromosome, section q, loci 14-21. Oculocutaneous albinism involves the eyes, hair, and skin. Ocular albinism involves primarily the eye. People with ocular albinism may have slight lightening of hair and skin colors as well, compared to other family members. At present researchers have found 10 different types of oculocutaneous albinism, and five types of ocular albinism. Newer laboratory research studying DNA has shown that there are numerous types of changes in the genes of those with albinism, including within families.

104. Principles Of Pediatric Dermatology - Chapter 38 : DISTURBANCE OF PIGMENTATION Complete loss of pigment such as in vitilligo and albinism. albinism is a partial or complete congenital absence of color of skin, hair and eyes due to http://www.drmhijazy.com/english/chapters/chapter38.htm

CHAPTER 38 DISTURBANCE OF PIGMENTATION Contents Search Skin color depends on different factors: Melanocyte activity has a more effect than the number of melanocyte density in the skin. The number of melanocytes in Negroes is not more than that available in the Caucasians. Rate of melanin synthesis Size and deposition of melanosomes Transfer of pigment to the keratinocytes Degradation of melanin is mainly responsible for skin coloration. Disturbance in skin color is either: Hyperpigmentation : which is mainly after, sunbathing, post inflammatory, hormonal or associated with different diseases. Hypopigmentation : follows certain skin diseases. Complete loss of pigment : such as in vitilligo and albinism. Skin color is due to melanin, which is synthesized by the melanocytes in the epidermis and hair follicles, from phenylallanin through transformation of tyrosine to dopa or dopamine and to dopaquine by the action of tyrosinase enzyme. In human beings there are three types of melanin: Eumelanin insoluble brown pigment, which gives the skin its brown color, synthesized from phenylallanin.

105. LII - Results For "albinos Albinism" Results for albinos albinism 1 of 1. NOAH The National Organization for albinism and Hypopigmentation. NOAH is a volunteer organization for persons and http://www.lii.org/advanced?searchtype=subject;query=Albinos albinism;subsearch=

106. Retina International's Scientific Newsletter - OA1 Gene Mutations Oetting,WS New insights into ocular albinism type 1 (OA1) Mutations and Rosenberg,T. and Schwartz,M. Xlinked ocular albinism prevalence and http://www.retina-international.com/sci-news/oa1mut.htm

Retina International's Scientific Newsletter Mutation Database Mutations of the OA1 Gene Recent update from: 07.07.2002 Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification Mutation Database OMIM Reference Group II Fine reticular distribution Heavy staining of the nuclear membrane Protein accumulation in ER May affect correct folding Prevent proper glycosylation Group I Wild type glycosylation Cytoplasmic vesicular distribution concentration in the perinuclear area spreading towards periphery Co-localization with lysosomal markers Sequence The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the translation start site as used in most of the recent publications of OA1 mutations. Some mutations have been named according to Bassi et al. . Their sequence assumes a start codon 20 AA before the actual one given by Schiaffino et al. Deletion Exon 1 Microdeletion goto HGMD Deletion Exon 1 4800bp del Microdeletion goto HGMD Deletion Exon 1 - 8 Microdeletion goto HGMD Deletion Exon 2 - 8 Microdeletion Mutation map Map Arg 5 Cys CGC - TGC Missense Group II Defective glycosylation Reduced yield ER retention goto HGMD Gly 35 Asp GGC - GAC Missense GroupII Defective glycosylation Reduced yield ER retention goto HGMD Leu 39 Cys CTC - CGC Missense goto HGMD Microdeletion Previously reported as 211del7bp goto HGMD Missense GGG TCC CCC GCG - GGG TCC CCC CGC G Microdeletion Previously reported as 240insC goto HGMD Microdeletion

107. Albinism - Children's Hospital Boston Home albinism. Flower albinism. Programs that treat this condition. Retina Service Dermatology Program. Unfortunately, at this time, we are not able to http://www.childrenshospital.org/az/Site775/mainpageS775P0.html

or find by letter: A-F G-L M-R S-Z My Child Has... Home Albinism Albinism Programs that treat this condition Retina Service Dermatology Program Unfortunately, at this time, we are not able to provide information about this condition or procedure. However, we will be frequently adding and updating information in Child Health A to Z. So please bookmark this site and visit us again soon. Children's Hospital Boston is the primary pediatric teaching hospital of Harvard Medical School Contact Us Privacy Accessibility Give Now Children's Hospital Boston 300 Longwood Avenue Boston MA 02115

108. The DRM WebWatcher: Albinism A Disability Resources Monthly guide to the best online resources about albinism. http://www.disabilityresources.org/ALBINISM.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Albinism Updated 3/2004 A B C D ... About/Hint/Link Albinism refers to a group of inherited conditions that affect about one person in 17,000. The bodies of people with albinism do not produce the usual amounts of a pigment known as malanin, regardless of their race or ethnicity. As a result, individuals with albinism have little or no pigment in their eyes, skin, or hair. For more information, check these sites. Albinism An overview from the Medlineplus Medical Encyclopedia Albinism in Popular Culture A fascinating look at albinism in art, fiction, and film. International Albinism Center at the University of Minnesota This site includes an excellent online booklet, glossary, and clinical review. NOAH's website provides information about albinism and NOAH through a series of interactive "WebBoards" and a collection of fact sheets about a wide variety of topics of interest to people with albinism. Related Subjects Blindness and Visual Impairments Hermanasky-Pudlak Syndrome Resources in your state (c) 1997-2005 Disability Resources, inc.

109. ALBINISM: Contact A Family - For Families With Disabled Children: Information On Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/a30.html

printer friendly ALBINISM home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Albinism is a group of genetic disorders in which the affected individual has reduced or absent pigmentation. This usually affects the skin, hair and eyes. However, the eyes alone can be affected. Common features are reduced visual acuity, photophobia, nystagmus and strabismus. There are two main types of albinism namely ocular albinism and oculo-cutaneous albinism. Additionally within oculo- cutaneous albinism there are a number of variants with characteristic presentations. Ocular albinism only affects the eyes and usually leads to nystagmus Inheritance patterns Ocular albinism is X-linked or autosomal recessive. Oculo- cutaneous albinism is autosomal recessive. Prenatal diagnosis Not currently available. Medical text last updated April, 2001 by Dr L Esakowitz, Consultant Ophthalmologist, Medical Adviser to the Albinism Fellowship and Miss Isabelle Russell-Eggitt FRCS FRCOphth, Consultant Ophthalmic Surgeon, Great Ormond Street Hospital, London, UK. ALBINISM FELLOWSHIP Albinism Fellowship PO Box 77 Burnley e-mail: Web: http://www.albinism.org.uk

110. Meet Other Albinos In Your Area! - Meetup.com Be notified when new albinism Meetup Groups start nearby! Organize your own albinism Meetup Group today! Get Email Updates Start a Meetup Group http://albinism.meetup.com/

@import url("http://www.meetup.com/templates/default_v2/site.css"); @import url( http://www.meetup.com/templates/default_v2/images.css ); Home Sign In Register Help ... Find a Meetup Group To organize a local Hurricane Support Meetup for free, email us All Albinism Meetup Groups 1 Groups around the world 97 members 53 who are waiting United Albinism Meetup Day: Second Saturday Welcome ... Meetup Group! United Albinism Meetup Day What's this? Add to your site google_color_bg = 'eef6fe'; google_color_border = 'D6E3F6'; google_color_line = 'bdd0ee'; google_alternate_color = 'eef6fe'; google_hints = "Albinism"; Country United States of America Canada Great Britain Australia Afghanistan Albania Algeria American Samoa Andorra Angola Anguilla Antarctica Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia-Herzegovina Botswana Brazil Brunei Bulgaria Burkina Faso Burundi Cambodia Cameroon Canada Cape Verde Cayman Islands Central Africa Chad Chile China Colombia Comoros Congo Congo (Dem. Rep.)

111. 4 5 6 7 1 22 25 18 16 2 21 23 13 10 3 7 10 18 14 4 0 1 3 5 5 1 0 1 4 5 6 7 1 22 25 18 16 2 21 23 13 10 3 7 10 18 14 4 0 1 3 5 5 1 0 1 6 1 0 7 0. http://www.stat.ucla.edu/data/hand-daly-lunn-mcconway-ostrowski/ALBINISM.DAT

112. GPCRDB Ocular Albinism Proteins GPCRDB Ocular albinism proteins. logo Copyright (C) 2005, GPCRDB. Available data. Database crossreferences for sequences in this family. http://www.gpcr.org/7tm/seq/006/006.html

GPCRDB: Ocular albinism proteins GPCRDB Available data Database cross-references for sequences in this family. Corresponding cDNAs and pairwise alignments. Multiple sequence alignment in: HSSP format MSF (50 AA wide) or long MSF format mview (80 AA wide) or long mview format. Profile used to obtain these alignments. Phylogenetic tree with : sequences. Individual or family 2D snake-like plots with mutation data (if available). MSF alignment with point mutations (MuteXt data only) List of sequences for which point mutations are available (MuteXt data only) Sub-families None Super-families List of all families 20-Mar-2005

113. Albinism.html National Organization for albinism and Hypopigmentation (NOAH) albinism Information from NOAH (in English and Spanish). albinism Fellowship UK http://www.cnb.uam.es/~montoliu/albinism.html

WEB resources on ALBINISM and other hypopigmented human congenital diseases LINKS THE HUMAN CONGENITAL DISEASES (from OMIM Database) Oculocutaneous Albinism Type I (OCA1) Oculocutaneous Albinism Type II (OCA2) Oculocutaneous Albinism Type III (OCA3) Oculocutaneous Albinism Type IV (OCA4) ... ALBINISM Database (International Albinism Center, Univ. Minnesota) FACTS about albinism (by Prof. R. King et al.) Snowflake, the albino gorilla (Zoo of Barcelona) Picture collection of mouse coat colour mutations Human genes associated with retinal diseases (RETNET) Other WEB pages with information on Albinism National Organization for Albinism and Hypopigmentation (NOAH) Albinism Information from NOAH (in English and Spanish) Albinism Fellowship UK Vitiligo Society UK Albinism Facts Albinism Information (Low Vision Gateway) ... WEB site from an albino person Albinism in other Animals ( OMIA Database Oculocutaneous Albinism Type I (OCA1) in mice Mouse Tyrosinase Gene (Ensembl) ... (Ensembl) Responsible Person for this WEB: Lluis Montoliu Back to main page Last update: 13 June 2005

114. DermAtlas: Online Dermatology Image Library Dermatology Image,albinism,blonde Ha DermAtlas Dermatology Images piebaldism,hypopigmentation/depigmentation, hypopigmentation/depigmentation,hyperpigmentation,hyperpigmentation,dermatology http://dermatlas.med.jhmi.edu/derm/result.cfm?Diagnosis=-1406605093

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