1. Marinesco-Sjogren Syndrome marinescosjogren syndrome (MSS) is a very rare genetic disorder characterized by ataxia (balance and coordination problems), post-natal cataracts, generally 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 February 24, 2004. marinesco-sjogren@pacbell.net

2. Marinesco-Sjogren Syndrome links to national and international MarinescoSjogren resources, clinics with genetic counselors and geneticists marinesco-sjogren syndrome (MSS) ataxia (balance and coordination problems), post-natal cataracts, cognitive delay, small stature. marinesco-sjogren syndrome ( MSS) Support Group 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)

3. NORD - National Organization For Rare Disorders, Inc. MarinescoGarland Syndrome. marinesco-sjogren syndrome-Hypergonadotrophic Hypogonadism. marinesco-sjogren syndrome General Discussion. marinesco-sjogren syndrome (MSS) is http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Marinesco Sjo

4. Sjogren Syndrome,Marinesco-Sjogren Syndrome,Marinesco-Sjogren-Gorland Syndrome,M Sjogren Syndrome marinescosjogren syndrome Marinesco-Sjogren-Gorland Syndrome Myopathymarinesco-sjogren syndrome Sjogren Syndrome marinesco-sjogren syndrome Marinesco-Sjogren-Gorland Syndrome Myopathymarinesco-sjogren syndrome http://www.icomm.ca/geneinfo/sjogren.htm

Sjogren Syndrome,Marinesco-Sjogren Syndrome,Marinesco-Sjogren-Gorland Syndrome,MyopathyMarinesco-Sjogren Syndrome,Sjogren Syndrome,Marinesco-Sjogren Syndrome,Marinesco-Sjogren-Gorland Syndrome,MyopathyMarinesco-Sjogren Syndrome For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Sjogren Syndrome also known as: Marinesco-Sjogren Syndrome Marinesco-Sjogren-Gorland Syndrome (as defined by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) What Can I Do About Dry Eyes? What Can I Do About Dry Mouth? Acknowledgments The disease can affect other glands too, such as those in the stomach, pancreas, and intestines, and can cause dryness in other places that need moisture, such as the nose, throat, airways, and skin. SS-A and SS-B. The main symptoms are Dry eyes Your eyes may be red and burn and itch. People say it feels like they have sand in their eyes. Also, your vision may be blurry, and bright light, especially fluorescent lighting, might bother you. Dry mouth Dry mouth feels like a mouth full of cotton. It's difficult to swallow, speak, and taste. Your sense of smell can change, and you may develop a dry cough. Also, because you lack the protective effects of saliva, dry mouth increases your chances of developing cavities and mouth infections.

5. Neurology -- Abstracts: Merlini Et Al. 58 (2): 231 MR Imaging Features in marinescosjogren syndrome Severe Cerebellar Atrophy Is Not an cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and marinesco-sjogren syndrome. J. Med http://www.neurology.org/cgi/content/abstract/58/2/231

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Figures Only for this Article Full Text of this Article PDF Version of this Article Citation Map ... Email this article to a friend Correspondence: Submit a response to this article Similar articles found in: Neurology Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Merlini, L. Kalaydjieva, L. Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Peripheral neuropathy Muscle disease Neurology American Academy of Neurology L. Merlini, MD R. Gooding, BSci M.C. Walter, MD D. Angelicheva, PhD B. Talim, MD J. Hallmayer, MD and L. Kalaydjieva, MD PhD Address correspondence and reprint requests to Dr. Luba Kalaydjieva, Center for Human Genetics, Edith Cowan University, Perth, WA 6027, Australia; e-mail: L.Kalaydjieva@ecu.edu.au Objective and Background: To describe three Gypsy families with and recurrent episodes of myoglobinuria in five of the six affected subjects. Because these families originated from the same genetically

6. Marinesco-Sjogren Syndrome: Shiibo Li Biography SHIBO LI, MD, FACMG Title Associate Professor of Pediatrics Director, Genetics Laboratory. Office Address Oklahoma University Health http://www.marinesco-sjogren.org/shibo.html

SHIBO LI, M.D., F.A.C.M.G. Title: Associate Professor of Pediatrics Director, Genetics Laboratory Office Address: Oklahoma University Health Sciences Center Department of Pediatrics, Genetics Laboratory 941 Stanton L. Young Blvd., BSEB 224 Oklahoma City, OK 73104 Telephone: 405-271-3590 Facsimile: 405-271-7117 E-Mail: shibo-li@ouhsc.edu Education 1978-1984 M.D., Norman Bethune University of Medical Sciences, Changchun, Jilin, P.R. China Specialty Board Certification American Board of Medical Genetics (Clinical Cytogenetics)-1996 American Board of Medical Genetics (Clinical Molecular Genetics)-1996 Professional/Research Experiences 1999-present Associate Professor of Pediatrics, Director, Genetics Laboratory, Oklahoma University Health Sciences Center, Department of Pediatrics, Genetics Laboratory, Oklahoma City, OK 1998-1999 Adjunct Assistant Professor, Department of Pediatrics, Tulane University School of Medicine, New Orleans, LA 1996-1999 Assistant Professor of Medical Genetics, Director of DNA Diagnostic Laboratory, Assistant Director, Clinical Cytogenetics Laboratory, University of South Alabama, Mobile, AL 1995-1996 Postdoctoral Fellow, UCLA Intercampus Medical Genetics Training Program, Los Angeles, CA Adjunct Assistant Professor, Department of Medical Genetics, University of South Alabama, College of Medicine, Mobile, AL

7. Marinesco Sjogren Syndrome marinescosjogren syndrome is a rare disorder that is inherited through autosomal recessive genes. The major features of this disorder are a loss of muscle coordination as a result of disease in http://www.peacehealth.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-us6.1";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 is a rare disorder that is inherited through autosomal recessive genes. The major features of this disorder are a loss of muscle coordination as a result of disease in the cerebellum (cerebellar ataxia), loss of clearness in the eyes' lenses (cataract), increased muscle tension (spasticity), progressive muscle weakness, and mental deficiency. Resources National Scoliosis Foundation 5 Cabot Place Stoughton, MA 02072

8. Genetic Conditions / Rare Conditions Information Site cartilaginous enchondromatosis); Malignant hyperthermia; Maple syrup urine disease; marinescosjogren syndrome; Marfan syndrome; Menkes http://www.kumc.edu/gec/support/

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z Revised January 22, 2004 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

9. Health Library - Marinesco Sjogren Syndrome. None. General Discussion. marinescosjogren syndrome is a rare disorder that is inherited through autosomal recessive genes. http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

10. Marinesco-Sjogren Syndrome - Medical Dictionary Definitions Of Popular Medical T MedicineNet Home MedTerms medical dictionary AZ List marinescosjogren syndrome. Advanced Search. http://www.medterms.com/script/main/art.asp?articlekey=18034

11. OMIM - MARINESCO-SJOGREN SYNDROME; MSS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=248800

12. About The Newsletter overview of gonadal function in Marinesco Sjogren Syndrome (MSS), an introduction to the Gonadal Function In marinesco-sjogren syndrome by Jo Anne Brasel, M.D http://www.marinesco-sjogren.org/NEWS2.pdf

13. Entrez PubMed Marinesco Sjogren syndrome with rhabdomyolysis. In conclusion, acute rhabdomyolysis can occur as a neuromuscular complication of marinescosjogren syndrome. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed

14. Definitions Of Genetic Disorders-M. htm MarieSainton Disease cleidocran.htm Marie Strumpell Disease ankspon.htm Marie-Strumpell Spondylitis ankspon.htm marinesco-sjogren syndrome sjogren.htm http://www.icomm.ca/geneinfo/def-m.htm

For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter M Click on the link next to the disorder to view its definition. MAA lenz.html Machado Disease josephs.htm Machado-Joseph Disease josephs.htm Macrencephaly megalen.htm Macrocephaly macroc.htm Macrocephaly Hemihypertrophy proteus.htm Macrocephaly with Multiple Lipomas and Hemangiomata brrs.htm Macrocephaly with Pseudopapilledema and Multiple Hemangiomata brrs.htm Macroglobulinemia waldenst.html Macroglossia macroglossia.htm Macroglossia-Omphalocele-Visceromegaly Syndrome bws.htm Macrostomia Ablepheron Syndrome ams.htm Macrothrombocytopenia Familial Bernard-Soulier Type bss.htm Macula Lutea degeneration macdeg.htm Macular Amyloidosis amylo.htm

15. Short Description Of Cell Lines. Pathology: Marinesco-Sjogren Syndrome *248800 Version 4.200205, Short description of cell lines. Pathology marinescosjogren syndrome *248800 OMIM record. - By selecting the cell http://www.biotech.ist.unige.it/cldb/pat112.html

Version Short description of cell lines. Pathology: Marinesco-Sjogren syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM By Beatrice...

16. IGF016/86 FFF0161986 Morphology fibroblast Species human, Caucasian female; Tissue skin, fibroblast; Pathology marinescosjogren syndrome Depositor Laboratorio 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...

17. Healthwise Topic Marinesco Sjogren Syndrome, Back to previous page. marinescosjogren syndrome is a rare disorder that is inherited through autosomal recessive genes. http://www.stlukes-sf.sutterhealth.org/health/healthinfo/index.cfm?section=healt

18. Spinocerebellar Degenerations - Information / Diagnosis / Treatment / Prevention Note To access the full text of articles, sign up for a sevenday no-risk free trial subscription to eLibrary. Web Directory ? marinesco-sjogren syndrome http://www.healthcyclopedia.com/neurological-disorders/spinal-cord/spinocerebell

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... spinal cord > spinocerebellar degenerations Spinocerebellar Degenerations Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Subtopics Related Topics Medical Definition Health News ... Web Directory: Subtopics: Spinocerebellar Degenerations > Friedreich's Ataxia Related Topics: Ataxia Machado-Joseph Olivopontocerebellar Atrophy Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "spinocerebellar degeneration" Health News: Search millions of published articles for news on Spinocerebellar Degenerations Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Marinesco-Sjogren Syndrome Information and a support group for families affected with this syndrome, a rare genetic disorder characterized by ataxia, cataracts, very small stature, and mental retardation.

19. AJNR -- Abstracts: Georgy Et Al. 19 (2): 281 by American Society of Neuroradiology. ARTICLES. Neuroradiologic findings in marinescosjogren syndrome. BA Georgy, RD Snow, BG Brogdon http://www.ajnr.org/cgi/content/abstract/19/2/281

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: PDF Version of this Article Similar articles found in: AJNR Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Georgy, B. A. Wertelecki, W. Alert me when: new articles cite this article Download to Citation Manager ARTICLES Neuroradiologic findings in Marinesco-Sjogren syndrome BA Georgy, RD Snow, BG Brogdon and W Wertelecki Department of Radiology, University of South Alabama College of Medicine, Mobile, USA. PURPOSE: Our purpose was to determine the neuroradiologic findings of Marinesco-Sjogren syndrome on plain skull radiographs, CT, and MR images. METHODS: Eight patients with proved Marinesco-Sjogren syndrome (age range, 4 to 56 years) had a total of nine CT scans, seven MR imaging studies, and two plain radiographic examinations of the skull. The findings were reviewed retrospectively, with particular attention to the size of the posterior fossa and cerebellum. RESULTS: All patients had hypoplastic

20. HealthMedNet ILLNESS DISEASE URL DIRECTORY 26476, Moravcsikmarinesco-sjogren syndrome, http//my.webmd.com/content/healthwise/30/7398, Moravcsik-marinesco-sjogren syndrome nord http://www.healthmednet.com/MOL-MUL.htm

MOL - MUL Molar Abscesses http://cpmcnet.columbia.edu/texts/guide/toc/toc18.html Molar Pregnancy http://my.webmd.com/content/healthwise/30/7398 Molar Pregnancy http://www.e-cureme.com/medical_encyclopedia.htm molar pregnancy http://www.healthanswers.com/patco/videos_main.asp Molar pregnancy http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/9339.html?k=menux408x9939xALZ Molar Pregnancy [mini-topic] http://content.health.msn.com/content/healthwise/106/26476 Mold http://www.cdc.gov/health/ Mold Allergies http://healthlink.mcw.edu/healtharticles/title_index.html Mold Allergies http://www.ahealthyme.com/primerindex/a Molds http://allergies.about.com/health/allergies/mbody.htm?PM=68_812_T Molds http://www.health.nih.gov Molds, avoiding http://www.med.umich.edu/1libr/aha/aha_index.htm#A Mole * http://www.med.umich.edu/1libr/pa/pa_index_2.htm#G Mole Removal http://www.emedicine.com/aaem/topiclist.htm Mole Removal http://www.healthsqr.com/mc4derm.htm Molecular Medicine http://www.medwebplus.com/subject/Diseases_and_Conditions Moles Moles http://www.mayoclinic.com/findinformation/diseasesandconditions/index.cfm

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