41. Lenz Microphthalmia Syndrome Lenz microphthalmia syndrome is an extremely rare inherited disorder characterizedby abnormal smallness of one or both eyes (unilateral or bilateral http://www.bchealthguide.org/kbase/nord/nord1057.htm

var hwPrint=1;var hwDocHWID="nord1057";var hwDocTitle="Lenz Microphthalmia Syndrome";var hwRank="1";var hwSectionHWID="nord1057-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Lenz Microphthalmia Syndrome Important It is possible that the main title of the report Lenz Microphthalmia Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Lenz Syndrome Lenz Dysplasia Microphthalmia or Anophthalmos with Associated Anomalies (obsolete) MAA Lenz Dysmorphogenetic Syndrome Disorder Subdivisions None General Discussion Lenz Microphthalmia syndrome is an extremely rare inherited disorder characterized by abnormal smallness of one or both eyes (unilateral or bilateral microphthalmos) and/or droopy eyelids (blepharoptosis), resulting in visual impairment. In rare cases, affected infants may exhibit complete absence of the eyes (anophthalmia). Most affected infants also exhibit developmental delay and mental retardation, ranging from mild to severe. Additional physical abnormalities are often associated with this disorder such as an unusually small head (microcephaly) and/or malformations of the teeth, ears, and/or fingers and/or toes (digits). The range and severity of findings may vary from case to case. Lenz microphthalmia syndrome, which is inherited as an X-linked recessive genetic trait, is fully expressed in males only. However, females who carry one copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder, such as an abnormally small head (microcephaly), short stature, and/or malformations of the fingers and/or toes.

42. Inbred C57 Black Mice: Microphthalmia And Ocular Infections - The Jackson Labora The cataracts found in inbred C57 black mice with microphthalmia may be characterized microphthalmia and Associated Abnormalities in Inbred Black Mice. http://jaxmice.jax.org/library/notes/463a.html

Strain Information Service Information JAX Mice Literature JAX Notes Current Issue ... Print-Friendly Version 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.

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

Strain Information Services Information JAX Mice Literature Order Mice ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: non-syndromic microphthalmia, cataracts and iris abnormalities" Strains Newly Available for all Mouse/Human Gene Homologs models. Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply 129S/Sv- or-J /J Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request. B6 x 129S1/SvEi p Tyr or-J ... /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. NOR2/LtDn- or-2J /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. (3 stocks) Back to top Back to Top Research Research Resources ... The Jackson Laboratory

44. Autosomal Dominant Coloboma/Microphthalmia - HUM-MOLGEN coloboma and microphthalmia segregating as an autosomal dominant disease. We wouldbe very interested in including other wellcharacterised families in the http://hum-molgen.org/bb/Forum2/HTML/000018.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Autosomal Dominant Coloboma/Microphthalmia profile register preferences faq ... next oldest topic Author Topic: Autosomal Dominant Coloboma/Microphthalmia Administrator Administrator posted 01-27-2000 10:24 AM 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

45. OMIM 601794: Autosomal Dominant Coloboma/Microphthalmia - HUM-MOLGEN OMIM 601794 Autosomal Dominant Coloboma/microphthalmia on a large familywith coloboma and microphthalmia segregating as an autosomal dominant disease. http://hum-molgen.org/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

46. MITF - Microphthalmia-associated Transcription Factor The following synonyms exist for gene MITF (microphthalmiaassociated SP-04microphthalmia associated transcription factor ( mitf) is a target of the http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/90115.html

Mutations that prevent OC-2 binding decrease MITF promoter activity by 75%. Abstract-8852708 Overexpression of OC-2 in transfected cells stimulates MITF promoter activity. Abstract-8852708 The +- MITF appeared to regulate the transactivation of the MMCP-5 gene indirectly. Abstract-1201702 Microphthalmia-associated transcription factor interacts with LEF-1 , a mediator of Wnt signaling. Abstract-9210256 promoter activity was induced to the extent of approximately 5-fold in the presence of MITF Abstract-9542635 The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene. Abstract-8852708 Here we show that affected individuals in two families have mutations affecting splice sites in the MITF gene. Abstract-172595 transcription factor was reported earlier to regulate positively the melanocyte-specific promoter of the MITF gene. Abstract-2127175 MITF are found to be associated with individuals with Waardenburg syndrome type 2 ( Abstract-1076990 These results indicate that MITF is a cell-type-specific factor that is capable of activating transcription of the tyrosinase gene.

47. Mitf - Microphthalmia-associated Transcription Factor The following synonyms exist for gene Mitf (microphthalmiaassociated Among the SKI targets were microphthalmia-associated transcription factor and http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/122791.html

A complex prescription for vitiligo activates mitochondrial ATP synthase-6 expression in B-16 murine melanoma cells. Abstract-10270704 Experimental autoimmune vitiligo was induced by intradermal injection of mushroom tyrosinase emulsified in complete Freund's adjuvant in female C57BL/6 mice. Abstract-8961419 All-trans retinoic acid induces differentiation and apoptosis of murine melanocyte precursors with induction of the microphthalmia-associated transcription factor Abstract-9194605 Transcriptional activation of mouse mast cell Protease-7 by activin and transforming growth factor-beta is inhibited by microphthalmia-associated transcription factor Abstract-10076296 In the present study, we show that ectopic expression of a constitutively activated allele of MEK-1 , the immediate upstream activator of the MAPK ERK, in chicken embryonic retina in ovo, induces transdifferentiation of the RPE into a neural-like epithelium that is correlated with a downregulation of Mitf expression in the presumptive RPE.

48. Annual Reviews - Error Analysis of microphthalmia transcription factor expression in normal tissues microphthalmia transcription factor a sensitive and specific marker for http://arjournals.annualreviews.org/doi/pdf/10.1146/annurev.genet.38.072902.0927

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49. Microphthalmia - Definition From Biology-Online.org Definition and other additional information on microphthalmia from BiologyOnline.orgdictionary. http://www.biology-online.org/dictionary/microphthalmia

Forum Tutorials Dictionary Directory ... M microphthalmia microphthalmy An unnatural smallness of the eyes , occurring as the result of disease or of imperfect development Search the dictionary About Us Contact Us Link to Us Chemistry ... Equations

50. Anophthalmia And Microphthalmia What are Anophthalmia microphthalmia? bullet, Anophthalmia and microphthalmiaTheSearch for an Answer (RNIB). bullet, Information from Contact a Family http://www.nhbvi.com/internet/Eye/anophthalmia-microphthalmia.html

Search: Anophthalmia and Microphthalmia: TheSearch for an Answer (RNIB) Information from Contact a Family UK Information from SpedEx Discussion, Publications, and Support Anophthalmia/Microphthalmia Message Board Link Lists Ability.org Family Village Patient UK Yahoo Personal Web Pages Diann O'Riordan Fran's Page: Children with Anophthalmia Kelly and her son Steven NoEyes.com

51. The Eyecare Trust - Anophthalmia And Microphthalmia - Raising Awareness Of Eye C A British charity that raises awareness of eye care and eye health. http://www.eye-care.org.uk/item_view.php?item_id=63&content_id=4

52. About Microphthalmia microphthalmia is a disorder in which one or both eyes are Implications Children with microphthalmia typically have limited vision....... http://www.ffcvi.org/about_microphthalmia.htm

About Microphthalmia Description: Microphthalmia is a disorder in which one or both eyes are abnormally small. This disorder develops during pregnancy and can be associated with other birth defects. It is almost always hereditary, usually recessive, but may also be dominant. Causes may include genetic mutations and abnormal chromosomes. Researchers believe exposure to x-rays, chemicals, drugs, pesticides, toxins, radiation, or viruses increase the risk, but research is not conclusive. Children with residual vision may have the good eye patched to strengthen vision in the microphthalmic eye. A prosthesis can be made to cap the microphthalmic eye to help with cosmetic appearance, while preserving the remaining vision. Treatment : Corrective lenses for refractive errors if present. Prosthetics (artificial eye) for the one or both microphthalmic eye(s). There is no treatment that can create a new eye or restore vision. Less severe forms may benefit from medical or surgical treatments and in almost all cases improvements to a child’s appearance is possible. Implications: Children with microphthalmia typically have limited vision. Genetic counseling in indicated. Other ocular abnormalities also may occur, including cataracts, glaucoma, aniridia, and coloboma.

53. GeneReviews: Lenz Microphthalmia Syndrome Your browser does not support HTML frames so you must view Lenz microphthalmiaSyndrome in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/lenz/

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54. GeneReviews: Anophthalmia / Microphthalmia Overview Your browser does not support HTML frames so you must view Anophthalmia /microphthalmia Overview in a slightly less readable form. http://www.geneclinics.org/profiles/anophthalmia-ov/

Your browser does not support HTML frames so you must view Anophthalmia / Microphthalmia Overview in a slightly less readable form. Please follow this link to do so.

55. Anophthalmia And Microphthalmia In The Alberta Congenital Anomalies Surveillance Background A higher than expected rate of anophthalmia/microphthalmia (A/M) for1999 was noted in both the Alberta Congenital Anomalies Surveillance System http://pubs.nrc-cnrc.gc.ca/cjo/i05-049.html

Anophthalmia and microphthalmia in the Alberta Congenital Anomalies Surveillance System R. Brian Lowry, Ruth Kohut, Barbara Sibbald, Jocelyn Rouleau Volume 40, Number 1, February/février 2005 ABSTRACT Background: A higher than expected rate of anophthalmia/microphthalmia (A/M) for 1999 was noted in both the Alberta Congenital Anomalies Surveillance System (ACASS) and the Canadian Congenital Anomalies Surveillance System (CCASS). Since this increase was at variance with the previous 19 years, we performed a review to determine whether the increase was true and, if so, the possible explanation. Methods: Results: Sixty cases of A/M were ascertained over the study period. Of the 88 active ophthalmologists in the province, 21 (24%) replied, but no new cases were ascertained from this source. No replies were received from the CNIB. We constructed five categories of clinical phenotypes for the 60 cases: 20 had a chromosomal etiology, 13 had a recognized syndrome or association, 16 had extraocular malformations, 5 had other eye anomalies, and 6 had A/M only. Pregnancy terminations were not included. The higher rate in 1999 was mainly due to cases with a chromosomal etiology or a recognized syndrome or association. There was no indication that a teratogen was causing a cluster of A/M cases, as our annual rates were comparable to those for other jurisdictions not only in Canada but also in other countries. Back to Table of Contents RÉSUMÉ Contexte : Un taux plus haut que prévu d’anophtalmie/microphtalmie (A/M) a été relevé en 1999 par l’

56. Anophthalmia & Microphthalmia - National Institutes Of Health (NIH) Anophthalmia microphthalmia Health Information from National Institutes ofHealth (NIH) http://health.nih.gov/result.asp/1014

Home Health Information Browse Health Topics Alphabetically Resources ... MedlinePlus NIH Institute and Center Resources National Eye Institute NEI Anophthalmia and Microphthalmia Resource Guide Eye Health Organizations List ... Cómo Hablarle a su Oculista Spanish Diagrama del Ojo Spanish Diagrama del Ojo: Antes y Después de Dilatar la Pupila Spanish El Cuidado de los Ojos: Mitos y Realidades Spanish Related Topics: Birth Defects Eye Diseases (General) Genetic Disorders Eyes and Vision ... Up to Top Look up "Anophthalmia & Microphthalmia" in: MedlinePlus - health resources from US government agencies and other credible organizations Clinical Trials Database - research studies in which you can participate This page was last reviewed on Thursday, July 28, 2005. Career Opportunities Visitor Information FOIA Employee Information ... Search National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, Maryland 20892 Department of Health and Human Services

57. MSU Laboratory Of Molecular Medicine microphthalmia is a birth defect in which one or both eyes are smaller than normal, While microphthalmia itself is not particularly harmful, 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

58. Clustering Of Anophthalmia And Microphthalmia -- Mariman 317 (7163): 895 -- BMJ microphthalmia is a general term used to describe a broad range of Geographicalvariation in anophthalmia and microphthalmia in England, 198894. http://bmj.bmjjournals.com/cgi/content/full/317/7163/895

Home Help Search Archive ... Table of Contents Author Keyword(s) Vol Page [Advanced] This article Extract PDF Respond to this article Alert me when this article is cited ... Alert me when a correction is posted Services Email this article to a friend Find similar articles in BMJ Find similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Mariman, E C M Related content Ophthalmology Other Epidemiology Neonates Related Article BMJ 1998;317:895-896 ( 3 October ) Editorials Clustering of anophthalmia and microphthalmia No clustering has been found but a link seems to exist with population density Papers p A few years ago public concern was raised in England by the appearance of apparent clusters of cases of anophthalmia and microphthalmia. The pesticide benomyl, and later on its derivative carbendazim, was suspected to be the cause of the alleged clustering. In response to a press campaign the government in 1993 commissioned further research, although without clearly indicating the direction for

59. Geographical Variation In Anophthalmia And Microphthalmia In England, 1988-94 • Commentary Clustering of anophthalmia and microphthalmia is not supported by the Number of cases (all and severe) of anophthalmia and microphthalmia, http://bmj.bmjjournals.com/cgi/content/full/317/7163/905

Home Help Search Archive ... Table of Contents Author Keyword(s) Vol Page [Advanced] This article Abstract PDF Respond to this article Read responses to this article ... View citation map Services Email this article to a friend Find similar articles in BMJ Find similar articles in PubMed Alert me to new issues of the journal ... Read articles citing this article PubMed PubMed Citation Articles by Dolk, H Articles by Cuzick, J. Related content Ophthalmology Other Epidemiology Related Articles BMJ 1998;317:905-910 ( 3 October ) Papers Geographical variation in anophthalmia and microphthalmia in England, 1988-94 Commentary: Clustering of anophthalmia and microphthalmia is not supported by the data Geographical variation in anophthalmia and microphthalmia in England, 1988-94 Editorial by Mariman H Dolk senior lecturer A Busby research fellow B G Armstrong senior lecturer in medical statistics P H Walls senior computing scientist Environmental Epidemiology Unit, Department of Public Health and Policy, London School of Hygiene and Tropical Medicine, London WC1E 7HT Correspondence to: Dr Dolk Abstract Objective: To investigate the geographical variation and clustering of congenital anophthalmia and microphthalmia in England, in response to media reports of

60. Rare Pediatric Disease Database WHAT Lenz microphthalmia syndrome is a rare, inherited genetic disorder that is WHO The frequency of Lenz microphthalmia syndrome is not known. http://www.madisonsfoundation.org/content/3/1/display.asp?did=412

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