21. Fisher Lab: Research - Microphthalmia Fisher Lab Research microphthalmia. For more information, refer to thefollowing review Hemesath, TJ, Price, ER, Takemoto, C., Badalian http://www.people.fas.harvard.edu/~park2/fisher/research_pages/mi.html

Fisher Lab Research: Microphthalmia For more information , refer to the following review: Hemesath, T.J., Price, E.R., Takemoto, C., Badalian, T., and Fisher, D.E. "MAPK links the transcription factor Microphthalmia to c-Kit signaling in melanocytes." Nature ***THIS PAGE IS UNDER CONSTRUCTION*** Back to Research Main Page Author: Jeannie Park Last Updated: October 7, 1998 http://www.fas.harvard.edu/~park2/fisher/research_pages/mi.html

22. Microphthalmia And Anophthalmia ....... microphthalmia and anophthalmia. Definition. Anophthalmia is the complete absenceof an eye. microphthalmia is an eye that has an abnormal smallness. http://www.healthatoz.com/healthatoz/Atoz/ency/microphthalmia_and_anophthalmia.h

Encyclopedia Index M Home Encyclopedia Encyclopedia Index M Microphthalmia and anophthalmia Definition Anophthalmia is the complete absence of an eye. Microphthalmia is an eye that has an abnormal smallness. Description Anophthalmia is caused by a defect in embryonic development. The total absence of an eye is extremely rare and often a clinical sign associated with a broad range of genetic disorders or, more commonly, a sporadic mutation. Sporadic transmission occurs in the affected individual due to a genetic abnormality. It is not passed on from the parents, but usually due to a combination of environmental and genetic influences. More commonly anophthalmia clinically presents as a small cyst. The defect, which causes anophthalmia, is an absence of the optic vesicle, a structure important for eye development. The genetic abnormality usually occurs during weeks one to three after conception. It is estimated that the incidence of microphthalmia occurs 0.22 times per 1,000 live births. Anophthalmia can occur during adult life but not associated with a genetic cause. Microphthalmia refers to an abnormally small eye. This clinical sign is often associated with autosomal dominant or recessively transmitted genetic disorders. Most disorders dominantly inherited with microphthalmia are associated with some visual capabilities in infancy and early childhood. Microphthalmia may be isolated (the only presenting sign) or associated with a range of ocular or systemic abnormalities. Isolated cases of microphthalmia may be sporadic or inherited. There is a variable degree of

23. Mi - Microphthalmia Features Listed For mi microphthalmia. Inner ear, general abnormalities;microphthalmia; Mouse - decreased hair pigment, general; http://www.hgmp.mrc.ac.uk/dhmhd-bin/mous-look-up?221

24. LENZ MICROPHTHALMIA Features Listed For LENZ microphthalmia. McKusick 309800. Hypospadias;Microcephaly; Microcornea; microphthalmia; Polydactyly/bifid thumb/pollex; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?989

25. Microphthalmia And Anophthalmia microphthalmia/Anophthalmia microphthalmia and anophthalmia are conditions wherethere is either a formed small, disorganized eye or no eye present. http://www.neweyelids.com/ped-cong/Microphthalmia.html

26. Nature Publishing Group 4 pp 397 401 Human microphthalmia associated with mutations in the retinal homeoboxgene CHX10 E. Ferda Percin 1, 2, 13 , Lynda A. Ploder 3, 13 , Jessica J http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v25/n4/full/ng0800_3

27. Nature Publishing Group MAP kinase links the transcription factor microphthalmia to cKit signalling inmelanocytes References 1. Moore, KJ Insight into the microphthalmia gene. http://www.nature.com/cgi-taf/DynaPage.taf?file=/nature/journal/v391/n6664/full/

28. Microphthalmia And Anophthalmia . Anophthalmia......MAIN SEARCH INDEX microphthalmia and anophthalmia. microphthalmia isan eye that has an abnormal smallness. http://www.hendrickhealth.org/healthy/002109.htm

MAIN SEARCH INDEX Microphthalmia and anophthalmia Definition Description Causes and symptoms Diagnosis ... Resources Definition Anophthalmia is the complete absence of an eye. Microphthalmia is an eye that has an abnormal smallness. Description Anophthalmia is caused by a defect in embryonic development. The total absence of an eye is extremely rare and often a clinical sign associated with a broad range of genetic disorders or, more commonly, a sporadic mutation. Sporadic transmission occurs in the affected individual due to a genetic abnormality. It is not passed on from the parents, but usually due to a combination of environmental and genetic influences. More commonly anophthalmia clinically presents as a small cyst. The defect, which causes anophthalmia, is an absence of the optic vesicle, a structure important for eye development. The genetic abnormality usually occurs during weeks one to three after conception. It is estimated that the incidence of microphthalmia occurs 0.22 times per 1,000 live births. Anophthalmia can occur during adult life but not associated with a genetic cause. Microphthalmia refers to an abnormally small eye. This clinical sign is often associated with autosomal dominant or recessively transmitted genetic disorders. Most disorders dominantly inherited with microphthalmia are associated with some visual capabilities in infancy and early childhood. Microphthalmia may be isolated (the only presenting sign) or associated with a range of ocular or systemic abnormalities. Isolated cases of microphthalmia may be sporadic or inherited. There is a variable degree of

29. Microphthalmia microphthalmia A Singular View http//www.angelfire.com The author explains howmicrophthalmia has affected her son. SUBCATEGORIES. Up. America Medica, Inc. ®. http://www.medlina.com/microphthalmia.htm

Academic Medicine Addiction Aging AIDS-HIV ... Women's Health The Web MEDLINA.com (partial) CDC WHO FDA NIH CATEGORIES Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: Home Up Ophthalmology Books Blindness Amblyopia ... Visual Impairment Microphthalmia Squint Trachoma Uveitis Xerophthalmia ... Ophthalmology Associations Microphthalmia Micro and Anopthalmic Children's Society (MACS) - http://www.macs.org.uk Provides support and information for parents and professionals with microphthalmia, anophthalmia, coloboma and related conditions. International Children's Anophthalmia Network (ICAN) - http://www.ioi.com Parent support group for families with a child with anophthalmia or microphthalmia. Noeyes.com - http://www.noeyes.com Story and updates of a baby born without eyes. A Singular View - http://www.angelfire.com The author explains how Microphthalmia has affected her son. SUBCATEGORIES Up powered by A merica M edica, I nc. info@medlina.com New York City

30. Microphthalmia darlene Tuesday, May 23, 2000 191353, Subject microphthalmia Message my daughteris 24 now..from birth was diagnosed with microphthalmia/microcornea http://www.macs.org.uk/bbs/general/18.html

Document not found The requested document was not found on this server. This could be for a variety of reasons, including: You followed a broken or out-of-date link. You entered the URL incorrectly. The file no longer exists. If you followed a broken link, please inform the owner of the referring document. If you have any queries about this error, please e-mail webmaster@macs.org.uk Back to macs.org.uk homepage [ Powered by Zeus Web Server MACS-ICAN Message Board From Message darlene Tuesday, May 23, 2000 Subject: microphthalmia Message: Debbie France Friday, June 02, 2000 RE: microphthalmia Message: Sorry about the strange reply address but you can get to me via my husbands work address! Our son William is now nearly 3 he was born with microphthalmia,colobma and no optic nevre in the one eye, he was also born with hypospadius (under developed urethra)the doctors at Great Ormond Street also said that we should look out for any other problems that might arise,but didn't offer any specifics, he has been looked at regularly and sure anough other problems have been found mostly developmental (we have a working diagnosis of autism). darlene Monday, June 05, 2000

31. Microphthalmia MACSICAN Message Board From, Message. Carole Friday, May 19, 2000 194734, Subjectmicrophthalmia Message My sister aged 10 was born with microphthalmia. http://www.macs.org.uk/bbs/general/17.html

Document not found The requested document was not found on this server. This could be for a variety of reasons, including: You followed a broken or out-of-date link. You entered the URL incorrectly. The file no longer exists. If you followed a broken link, please inform the owner of the referring document. If you have any queries about this error, please e-mail webmaster@macs.org.uk Back to macs.org.uk homepage [ Powered by Zeus Web Server MACS-ICAN Message Board From Message Carole Friday, May 19, 2000 Subject: microphthalmia Message: My sister aged 10 was born with microphthalmia. She has up to now had good eyesight in her right eye but she is now saying that the words in her book are blurred. My parents are worried about glasses. They fear that if she does need glasses that the left lense would be a frosted lense or something similar due to her not having any sight in that eye. My parents do not want this as this would draw attention to her eye as she has a lense in place and no one knows the difference. I would like to hear from anyone who has any information about this. I do apologise for my spelling mistakes this is my first time communicating on the computer. Anyway a very informative website. Pete Friday, May 19, 2000

32. Clinical Study: 01-HG-0094, Molecular Analysis Of Microphthalmia/Anophthalmia Title Molecular Analysis of microphthalmia/Anophthalmia Number 01HG-0094 SummaryThis study will try to learn more about the genetic cause and symptoms of http://clinicalstudies.info.nih.gov/detail/A_2001-HG-0094.html

Protocol Number: 01-HG-0094 Title: Molecular Analysis of Microphthalmia/Anophthalmia Number: 01-HG-0094 Summary: This study will try to learn more about the genetic cause and symptoms of microphthalmia (small eyes) or anophthalmia (absence of one or both eyes). Patients with microphthalmia or anophthalmia with mental retardation may be eligible for this study. Patients' parents and siblings will also be included for genetic studies. Patients may participate in both the clinical and laboratory parts of the study or just the laboratory part, as described below: Laboratory The laboratory study consists of DNA analysis to determine the genetic cause of microphthalmia/anophthalmia. The DNA sample is obtained using one of the following methods: -Blood draw - for young children, a numbing cream is applied to the skin before the needlestick to decrease the pain -Skin biopsy - a small piece of skin (about 1/8-inch in diameter) is removed surgically after the area has been numbed with an anesthetic -Cotton swab - a specimen is collected from inside the cheek using a cotton swab. This is done only for patients who cannot provide a blood or skin sample.

33. 1Up Health > Health Links Directory > Conditions And Diseases: Eye Disorders: Mi Sites. International Children's Anophthalmia Network (ICAN) Parent supportgroup for families with a child with anophthalmia or microphthalmia. http://www.1uphealth.com/links/eye-disorders-microphthalmia.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Eye Disorders : Microphthalmia Description Sites International Children's Anophthalmia Network (ICAN) Parent support group for families with a child with anophthalmia or microphthalmia. Micro and Anopthalmic Children's Society (MACS) Provides support and information for parents and professionals with microphthalmia, anophthalmia, coloboma and related conditions. Noeyes.com Story and updates of a baby born without eyes. A Singular View The author explains how Microphthalmia has affected her son. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

34. 1Up Health > Health Links Directory >Conditions And Diseases:Eye Disorders:Micro 1UpHealth Health Directory Conditions_and_Diseases Eye_Disordersmicrophthalmia All sites related to microphthalmia Help build http://www.1uphealth.com/links/desc-436.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Microphthalmia All sites related to Microphthalmia Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

35. Inbred C57 Black Mice: Microphthalmia And Ocular Infections - The Jackson Labora No. 463 Fall 1995. Inbred C57 Black Mice microphthalmia and Ocular Infections. Asymmetricmicrophthalmia and anophthalmia were found in affected mice. http://jaxmice.jax.org/library/notes/463a.html

Mice Orders Services Strain Information Research Models ... E-Mail Alerts No. 463 Fall 1995 Inbred C57 Black Mice: Microphthalmia and Ocular Infections Richard S. Smith, M.D., Med. Sci., John P. Sundberg, D.V.M., Ph.D. History Gross Lesions Most of the published studies base the ocular diagnosis on gross examination alone. The reported incidence of ophthalmic abnormalities varies from 4.4% (Chase, 1942) to 10% (Kalter, 1968). True anophthalmia is unusual and can only be diagnosed by careful histopathologic examination (Smith, 1994). The relative incidence of microphthalmia versus anophthalmia has never been established since no large series has been examined microscopically. Affected mice often develop recurrent ocular infections. These infections are the result of the small or absent eyes with consequent poor drainage of tears and debris, rather than being due to poor animal husbandry. The investigator must recognize that the described ophthalmic abnormalities represent a background feature of inbred black mice in order to avoid incorrect interpretation of experiments that involve the eyes in these mice. Figure 1 shows a C57BL/6J mouse with moderate microphthalmia. Figure 1.

36. JAX®Mice Database - Mouse/Human Gene Homologs: Non-syndromic Microphthalmia, Ca JAX®MICE Database Mouse/Human Gene Homologs non-syndromicmicrophthalmia, cataracts and iris abnormalities List. http://jaxmice.jax.org/jaxmicedb/html/model_1439.shtml

Mice Orders Services Strain Information Research Models ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: non-syndromic microphthalmia, cataracts and iris abnormalities" Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply 129S/Sv- or-J Level 4: Up to 3 breeder pairs or 6 individual mice per order total; 1 order at a time. Expected delivery for most strains is 1 to 3 months. Call to inquire about ordering greater quantities. B6 x 129S1/SvEi p Tyr or-J Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. NOR2/LtDn- or-2J Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. (3 stocks) Back to Top Research Research Resources Mouse Genome Informatics ... The Jackson Laboratory

37. MSU Laboratory Of Molecular Medicine microphthalmia. microphthalmia is a birth defect in which one or both eyesare smaller than normal, leading to a restricted field of vision. http://www.msu.edu/~k9genome/micro.htm

Daniel Zemke Graduate Student, Dept. of Microbiology B.S., 1995, Michigan State University Microphthalmia Microphthalmia is a birth defect in which one or both eyes are smaller than normal, leading to a restricted field of vision. Microphthalmic eyes are considered to be a fault by many breed clubs. While microphthalmia itself is not particularly harmful, it is often found associated with more severe eye defects such as coloboma, retinal dysplasia, and cataracts. In the merle breeds, microphthalmia is also associated with hearing loss in some cases. Listed below are the known breeds in which microphthalmia has been reported. The condition appears to be inherited in many of these breeds. Akita Miniature Poodle American Foxhound Miniature Schnauzer Australian Kelpie Norwegian Dunkerhund Australian Shepherd Old English Sheepdog Bedlington Terrier Pekingese Borzoi Poodle Cavalier King Charles Spaniel Portugese Water Dog Collie Rottweiler Dachshund Shetland Sheepdog Dalmatian Tibetan Terrier Doberman Toy Poodle Great Dane West Highland White Terrier Miniature Dachshund The purpose of this study is to try to identify mutations that may be responsible for microphthalmia, focusing on a region of the canine genome that is thought to be associated with inheritance of this condition. This lab has performed some preliminary work on a microphthalmic Akita with interesting results, however more cases from this and other breeds are required in order to continue work in this area. Owners of microphthalmic dogs are encouraged to donate DNA samples for this project. Participation is free of charge and is easy, requiring you to only brush the inside of your dog's cheek with swabs that we provide and return them to us. If you are interested in donating samples

38. OMIM 601794: Autosomal Dominant Coloboma/Microphthalmia - HUM-MOLGEN We are about to start linkage analysis on a large family with colobomaand microphthalmia segregating as an autosomal dominant disease. http://www.hum-molgen.de/bb/Forum2/HTML/000014.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) OMIM 601794: Autosomal Dominant Coloboma/Microphthalmia profile register preferences faq ... next oldest topic Author Topic: OMIM 601794: Autosomal Dominant Coloboma/Microphthalmia FS Zollmann Administrator posted 10-26-1999 01:13 PM http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601794 We are about to start linkage analysis on a large family with coloboma and microphthalmia segregating as an autosomal dominant disease. We would be very interested in including other well-characterised families in the panel. Please contact David FitzPatrick MD/Veronica van Heyningen PhD Molecular Medicine Centre/MRC Human Genetics Unit Western General Hospital Edinburgh EH4 2XU UK Tel(Fax) 0131 651 1012(3) email: david.fitzpatrick@ed.ac.uk Veronica.VanHeyningen@hgu.mrc.ac.uk IP: 160.45.191.21 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications

39. Canine Microphthalmia Transcription Factor (MITF) Gene And Merle Coat Color Gene This page is under construction! Canine microphthalmia TranscriptionFactor (MITF) Gene and Merle Coat Color Genetics. Dr. Kate H http://eagle.clarion.edu/~faculty/eggleton/MITF.html

This page is under construction! Canine Microphthalmia Transcription Factor (MITF) Gene and Merle Coat Color Genetics Dr. Kate H. Eggleton, Clarion University of Pennsylvania Introduction Mutations in the Mitf gene can produce codominant, recessive, or dominant inheritance depending on which part of the protein is affected. Codominant inheritance is produced when the mutation is in DNA binding domain. In this case, the protein dimerizes normally - with protein from normal or mutant allele, but heterodimers can not bind DNA normally (fig.7). With recessive inheritance, the mutations are in the dimerization domains. The mutant protein can not dimerize and therefore cannot bind DNA efficiently (fig. 8). Dominant inheritance patterns have only been found in humans. Here, the DNA binding domain is affected. It has been suggested that human development is more sensitive to haploinsufficiency. Materials and Methods Single Strand Conformational Polymorphisms (SSCP) and Heteroduplex (HD) analysis of amplified gene segments can effectively screen for single base mutations in nucleic acids. SSCP is based on the fact that single stranded (denatured) DNA molecules take on a sequence specific secondary structure (conformer) when transferred to non-denaturing conditions. Under the same conditions, some of the molecules will renature as a double helix. If there were two DNA sequences, differing only by a single base, heteroduplexes (double helices consisting of one of each sequence) as well as homoduplexes will form. The different conformers of single strands and the different duplexes can be detected due to differing mobilities in gel electrophoresis. used to identify linkage or homology of the merle gene with the mouse or human mitf gene.

40. ORPHANET® : Microphthalmia Translate this page ORPHANET. ORPHANET database access. microphthalmia.Direct access to details Alias Home Page. http://www.orpha.net/static/GB/microphthalmia.html

ORPHANET database access Microphthalmia Direct access to details Alias : Home Page

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