1. Marinesco-Sjogren Syndrome Information and a support group for families affected with this syndrome, a raregenetic disorder characterized by ataxia, cataracts, very small stature, http://www.marinesco-sjogren.org/

FAQs Medical overview Family stories Research ... Publications Welcome! Marinesco-Sjogren Syndrome (MSS) is a very rare genetic disorder characterized by ataxia (balance and coordination problems), post-natal cataracts, generally some degree of cognitive delay, and very small stature. About 100 cases have been diagnosed worldwide. The purpose of this website is to provide information and support to families affected by MSS and to encourage communication between doctors and researchers interested in this disorder. The website provides information about MSS, as well as links to other useful sites. Explore our site to learn more about MSS or contact us to communicate with other families. This is a site run by a small number of MSS families, and dedicated to our very special children. Please do contact us whatever your interest in MSS. We will be delighted to hear from you and promise you a response. This website was last updated on November 29, 2004. mss@marinesco-sjogren.org

2. Marinesco-Sjogren Syndrome marinescosjogren syndrome (MSS) is a very rare genetic disorder characterized by ataxia (balance and coordination problems), post-natal cataracts http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

3. Marinesco-Sjogren Syndrome links to national and international MarinescoSjogren resources, clinics withgenetic counselors and geneticists. http://www.kumc.edu/gec/support/marinesc.html

Marinesco-Sjogren Syndrome (MSS) ataxia (balance and coordination problems), post-natal cataracts, cognitive delay, small stature Marinesco-Sjogren Syndrome (MSS) Support Group 1640 Crystal View Circle Newbury Park, CA 91320 Phone: 805.499.7410 Email: marinesco-sjogren@pacbell.net Web site: www.marinesco-sjogren.org Marinesco-Sjogren Syndrome , Online Mendelian Inheritance in Man (OMIM #248800) Clinical Synopsis Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members Lysosomal Storage diseases , New Zealand [also support groups in Australia, United Kingdom, Europe, North American, South American] Locate a genetic counselor or clinical geneticist: Professional Genetics Societies Genetic clinics, centers, departments Revised [an error occurred while processing this directive] Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites)

4. MR Imaging Features In Marinesco-Sjogren Syndrome Severe Cerebellar H. H. Goebel, D. Rating, K. Sartor, and F. Ebinger T2hyperintense cerebellar cortex in marinesco-sjogren syndrome Neurology, December 28 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. MR Imaging Features In Marinesco-Sjogren Syndrome Severe 18 64 67Medline Superneau D, Wertelecki W, Zellweger H, Bastian F. Myopathy in marinesco-sjogren syndrome. Eur Neurol1987; http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Linkage To 18qter Differentiates Two Clinically Overlapping Superneau DW, Wertelecki W, Zellweger H, Bastian F. Myopathy in marinescosjogren syndrome. Eur Neurol 1987;268-16.Medline http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Marinesco-Sjogren Syndrome National network. Founded 2000. Support for families affected by Marinesco -Sjogren syndrome (MSS), a http://my.webmd.com/hw/health_guide_atoz/shc29mss.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Mariensco-Sjogren Syndrome Support Group Marinesco-Sjogren Syndrome Mariensco-Sjogren Syndrome Support Group National network. Founded 2000. Support for families affected by Marinesco-Sjogren syndrome (MSS), a rare, genetic disorder characterized by ataxia, cataracts, small stature, and retardation. Encourages research into the cause and cure. Information and referrals. WRITE: MSS Support Group 1640 Crystal View Circle Newbury Park, CA 91320 CALL: 805-499-7410 WEBSITE: http://www.marinesco-sjogren.org VERIFIED: 6/5/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

8. Linkage To 18qter Differentiates Two Clinically Overlapping Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Marinesco-Sjogren Syndrome Definition - Medical Dictionary Definitions Of Popula Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=18034

10. Marinesco-Sjogren Syndrome Evidence For A Lysosomal Storage marinescosjogren syndrome evidence for a lysosomal storage disorder PD Walker, MG Blitzer and E Shapira http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Marinesco Sjogren Syndrome marinescosjogren syndrome (MSS) is a rare disorder that is inherited as anautosomal recessive genetic condition. The major features of this disorder are a http://www.bchealthguide.org/kbase/nord/nord868.htm

var hwPrint=1;var hwDocHWID="nord868";var hwDocTitle="Marinesco Sjogren Syndrome";var hwRank="1";var hwSectionHWID="nord868-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Marinesco Sjogren Syndrome Important It is possible that the main title of the report Marinesco Sjogren 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 Marinesco-Garland Syndrome Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren Syndrome-Neuropathy Marinesco-Sjogren-Garland Syndrome Moravcsik-Marinesco-Sjogren Syndrome Myopathy-Marinesco-Sjogren Syndrome Disorder Subdivisions None General Discussion Marinesco-Sjogren syndrome (MSS) is a rare disorder that is inherited as an autosomal recessive genetic condition. The major features of this disorder are a loss of muscle coordination as a result of an affect on the cerebellum (cerebellar ataxia), cloudiness of the eyes' lenses (cataracts), increased muscle tension (spasticity), progressive muscle weakness, short stature, and mental deficits. Resources National Scoliosis Foundation 5 Cabot Place Stoughton, MA 02072

12. MSS - Marinesco-Sjogren Syndrome The MSIL and MSS forms of gastric carcinoma all showed predominantly unmethylated hMLH1 promoter, positive hMLH1 protein and high hMLH1 mRNA http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Arch Neurol Abstract The Marinesco-Sjogren Syndrome Examined The marinescosjogren syndrome examined by computed tomography, magnetic resonance, and 18F-2-fluoro-2-deoxy-D-glucose and positron emission http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. IGF016/86 Species human, Caucasian female; Tissue skin, fibroblast; Pathologymarinescosjogren syndrome Depositor Laboratorio Diagnosi pre-postnatale delle http://www.biotech.ist.unige.it/cldb/cl1928.html

Version Complete description of the cell line that you requested. human, Caucasian skin, fibroblast Marinesco-Sjogren syndrome (OMIM record) GEIMM FFF0161986 Morphology: fibroblast Species: human, Caucasian female; Tissue: skin, fibroblast; Pathology: Marinesco-Sjogren syndrome Depositor: Laboratorio Diagnosi pre-postnatale delle malattie metaboliche, Istituto Giannina Gaslini, Genova, Italy Properties: biochemical study; genetic study Available in the following LABORATORY Istituto Giannina Gaslini (GEIMM, Genova) primary culture, grown as monolayer; RPMI 1640 + 15-18% FBS + 1% Antibiotics + 2g/l NaHCO3 + 2mM L-Glutamine; 37C, 5% CO2 Hazard: Cell line belongs to risk category Group 1 Affected homozygous; Clinical diagnosis Further information Freezing medium: Culture medium + 25% FBS + 10% Glycerol By Beatrice...

15. Marinesco Sjogren Syndrome A Case Report. Sharma D. Department of Neurolgy, SMS Medical College, Jaipur, India. Marinesco Sjogren syndrome a case report. Neurology India. 1997 Mar; http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Marinesco-Sjogren Syndrome marinescosjogren syndrome. MIM.248800 5q31. Printable version. Genetic syndromeassociating cerebellar ataxia, congenital cataracts, and retarded somatic http://www.humpath.com/article.php3?id_article=4983

17. Marinesco-Sjogren Syndrome marinescosjogren syndrome. Information and a support group for families affected with this syndrome, a rare genetic disorder characterized by http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Hill Health Topics A-Z - Marinesco-Sjogren Syndrome Self Help Clearinghouse. marinescosjogren syndrome Support for familiesaffected by marinesco-sjogren syndrome (MSS), a rare, genetic disorder http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=shc29mss&S

19. Marinesco-Sjogren Syndrome - Talk Medical Humanfriendly medical definition of marinesco-sjogren syndrome. http://www.talkmedical.com/medical-dictionary/8739/Marinesco-Sjogren-Syndrome

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Marinesco-Sjogren Syndrome Marinesco-Sjogren syndrome: A genetic disorder characterized by very small stature, cerebellar ataxia (wobbliness), cataracts, muscle weakness, hypogonadism (low gonadal function), and developmental and mental retardation. The disease is usually evident at birth because of hypotonia (floppiness). The cataracts appear during childhood. Motor milestones are delayed with ataxia apparent by the time the child can sit. Most patients are eventually able to ambulate with a walker. Growth is poor and pubertal development may not occur because of hypogonadism. Mental retardation is usually mild to moderate in severity. Prolonged survival is possible, but the muscle weakness tends to be progressive. The syndrome is inherited as an autosomal recessive trait with complete penetrance in both sexes. (Whoever receives two Marinesco-Sjogren genes, one from each parent, manifests the syndrome.) The nature of the genetic defect is unknown (as of 2001). The disease is very rare except in genetic isolates, such as one in rural Alabama. There is a site and support group for the syndrome at: www.marinesco-sjogren.org/ Print this page About Talk Medical Help Contact Us ... Terms and Conditions

20. Marinesco-Sjogren Syndrome - St. Joseph Mercy, Ann Arbor Michigan marinescosjogren syndrome - St. Joseph Mercy Health System Hospitals servingAnn Arbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/112960.cfm

@import url(default.css); Online Health Information Health Information - Support Groups Back to Health Library Print This Page Email to a Friend Self Help Clearinghouse Marinesco-Sjogren Syndrome Mariensco-Sjogren Syndrome Support Group This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Mariensco-Sjogren Syndrome Support Group National network. Founded 2000. Support for families affected by Marinesco-Sjogren syndrome (MSS), a rare, genetic disorder characterized by ataxia, cataracts, small stature, and retardation. Encourages research into the cause and cure. Information and referrals. WRITE: MSS Support Group 1640 Crystal View Circle Newbury Park, CA 91320 CALL: 805-499-7410 WEBSITE: http://www.marinesco-sjogren.org VERIFIED: 6/5/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information.

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