1. Index Information and a support group for families affected with this syndrome, a rare genetic disorder Category Health Conditions and Diseases......marinescosjogren syndrome (MSS) is a very rare genetic disorder characterized byataxia (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 webite was last updated on September 17, 2002. marinesco-sjogren@pacbell.net

2. 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

3. Web Bound - Diseases: Sjogren Syndrome Sjogren syndrome Information for health professionals and interested laypersons on Arthritis, Osteoarthritis, and Rheumatoid Artheritis. 1 Steinfeld SD, Delporte C. Distribution of salivary aquaporin5 in Sjogren's syndrome. http://www.webbound.com/P79/Sjogren_Syndrome.html

1-800 CONTACTS has delivered 8 million orders Myoplex - #1 selling meal replacement Budget Reading Glasses at ReadingGlassesForCheapskates.com ... nutrisystem.com - Helping people lose weight for over 25 years! Manage, reduce and alleviate your menopausal symptoms. Click here Memory Optimizer, a fun, bold approach to vastly improve your memory. Click here to learn how. Flea season is upon us. Don't let your pet catch the scratch, visit Petscriptions today! Order WebBound Magazine ... About WebBound Search WebBound Match All Any Exact Phrase Find Greenies Dog Chews at DogToys.com Celebrating 35 dog years online! Prom Shoes and Sandals! At Zappo's 1.6% CashBack from Accucard MasterCard - APPLY NOW! Main Diseases : Sjogren Syndrome Sites : Marinesco-Sjogren Syndrome - www.marinesco-sjogren.org Sjogren Syndrome - www.sjogrens.org Sjogren's Syndrome - www.sjogrens.com Sjogren's Syndrome - www.dry.org Sjogren's Syndrome New Zealand - www.sjogrensnewzealand.co.nz Sjogren's Syndrome Support, SjSWorld - www.sjsworld.org

4. Gillespie Syndrome GS is similar to marinescosjogren syndrome, but is considered to be caused by a different mutation. http://www.aniridia-network.net/conditions/conditions/Gillespie-Syndrome.htm

GILLESPIE SYNDROME also Aniridia,Cerebellar Ataxia, and mental deficency Aniridia-Cerebellar Ataxia-Mental Retardation Aniridia, Partial-Cerebellar Ataxia-Mental Retardation Aniridia, Partial-Cerebellar Ataxia-Oligophrenia Gillespie Syndrome is a very rare genetically inherited disorder, which is inherited Recievely. It was first identified in 1965 when F. D. Gillespie described brothers and sisters with this combination which had apparently not been reported previously. GS is similar to Marinesco-Sjogren syndrome, but is considered to be caused by a different mutation. Conditions observed in GS patients Bilateral partial aniridia cerebellar ataxia, cerebellar hypoplasia cerebral and cerebellar atrophy mental deficiency developmental delay in both mental and motor skills gross uncoordination, attention tremor, scanning speech. persistent hypotonia congenital pulmonic stenosis Aniridia is the distuniguishing feature of GS, but aniridia in GS is identifable different from dominantly inherited aniridia, one note worth observation is that GS patients not develop cataracts and cornea pannus which are common in dominantly inherited aniridia. Diagnois can be made in the first months of life on the basis of the ocular findings. From slit lamp examination, the pupil border of the iris typically shows iris strands extending onto the anterior lens surface at regular intervals. LINKS I am not aware of a support group dealing purely in GS, however, their are a plither of organisations for the different conditions associated with gillespie syndrome. I may be helpful to Join WAGR as aniridia and Mental retardation are present in both.

5. ORPHANET® : Marinesco-Sjogren Syndrome Base de données sur les maladies rares et les médicaments orphelins marinescosjogren syndrome. Direct access to details http://orphanet.infobiogen.fr/static/GB/marinesco_sjogren.html

ORPHANET database access Marinesco-Sjogren syndrome Direct access to details Alias : Home Page

6. Marinesco-Sjogren Syndrome marinescosjogren syndrome (MSS). marinesco-sjogren syndrome, Online MendelianInheritance in Man (OMIM 248800) Clinical Synopsis. Also See 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

7. Genetic Conditions / Rare Conditions Information Site cartilaginous enchondromatosis); Malignant hyperthermia; Maple syrupurine disease; marinescosjogren syndrome; Marfan syndrome; Menke http://www.kumc.edu/gec/support/groups.html

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay Advocacy Groups, Support Groups, Information on Genetic Conditions and Birth Defects for Professionals, Educators and Individuals · National and International Organizations · Categories Genetic Counselors and Geneticists Children and Teen Sites Advocacy ... Z Revised March 21, 2003 Aarskog syndrome 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 Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) 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

8. Health Library - Marinesco Sjogren Syndrome Marinesco Sjogren Syndrome. None. General Discussion. marinescosjogren syndromeis a rare disorder that is inherited through autosomal recessive genes. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

9. 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

10. ORPHANET® : Marinesco-Sjogren Syndrome Translate this page ORPHANET. ORPHANET database access. Marinesco-Sjogrensyndrome. Direct access to details Alias Home Page. http://www.orpha.net/static/GB/marinesco_sjogren.html

ORPHANET database access Marinesco-Sjogren syndrome Direct access to details Alias : Home Page

11. Error Page DISEASE marinescosjogren syndrome, CIM E88.9, The main symptoms ofMarinesco-Sjögren syndrome (MSS) are congenital cataract, mental http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=559

12. Marinesco-Sjogren Syndrome Support Group marinescosjogren syndrome Support Group. 1640 Crystal View Circle Newbury Park,CA 91320. Conditions marinesco-sjogren syndrome. Contact Name ColleenYinger http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Mari

13. EnableNet - Enablenet.browse.browse Dis Multiple Disabilities marinescosjogren syndrome Marinesco-SjogrenSyndrome Matching Resources. Records 1-1 of 1 Website http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2819

14. EnableNet - Enablenet.browse.browse Lysosomal Storage Disorders. Marfan Syndrome. marinescosjogren syndrome.Nail Patella Syndrome. Noonan's Syndrome. Opitz Trigonocephaly Syndrome. http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=1944

15. MAGIC FOUNDATION marfan.org/. marinescosjogren syndrome (MSS) Website http//www.marinesco-sjogren.org/.The Noonan Syndrome Support Group Inc. PO http://www.magicfoundation.org/resources/support.htm

Support Groups Aarskogg Syndrome Aarskogg Syndrome Parent Support Group 62 Robin Hill Ln, Levittown, PA 19055-1411 Contact: Shannon Caranci, (215) 943-7131 Achondroplasia Little People of America P.O. Box 9897 Washington, DC 20016 Arthrogryposis Multiplex Congenita AVENUES, PO Box 5192 Sonora, CA 95370 CHARGE Syndrome Charge Syndrome Foundation 2004 Parkade Blvd Columbia, MO 65202-3121 Website: http://www.geocities.com/Heartland/1220/ Cockayne Syndrome PO Box 552 Stanleytown, VA 24168 Contact: Theresa Wall, (703) 629-2369 Coffin-Lowry Syndrome c/o Mary Hoffman 3045 255th Avenue S.E. Issaquah, WA 98029 Website: http://clsfoundation.tripod.com Email: CLSFoundation@yahoo.com Coffin-Siris Syndrome Support Group 1524 Marshall St. Antioch, CA 94509 Contact: Juanita Garrison Website: http://members.aol.com/CoffinSiri/default.htm Ellis van-Creveld Syndrome Support Group 540 S.Forest St,4-203

16. Definitions Of Genetic Disorders-M. marinescosjogren syndrome http//www.stepstn.com/nord/rdb_sum/868.htm. Moravcsik-Marinesco-SjogrenSyndrome http//www.stepstn.com/nord/rdb_sum/868.htm. http://www.icomm.ca/geneinfo/def-m.htm

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.htm 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 Macular Degeneration macdeg.htm Macular Degeneration Disciform macdeg.htm

17. HUM-MOLGEN Archive: DIAG: 5 Messages (1 PT.REQ.) Research ***** This DIAGmessage contains 5 submessage(s) 1) marinescosjogren syndrome/PT request 2 http://www.hum-molgen.de/mail-archive/1996-Oct/msg00006.html

home genetic news bioinformatics biotechnology ... register for news alert (free) Carlo Gambacorti: DIAG: 5 messages (1 PT.REQ.) archive of HUM-MOLGEN mails Author Prev Author Next Thread Prev ... HUM-MOLGEN@NIC.SURFNET.NL Subject : DIAG: 5 messages (1 PT.REQ.) From GAMBACORTI@ICIL64.CILEA.IT Date : Fri, 11 Oct 1996 18:58:19 +0000 Date-warning: Date header was inserted by ICIL64.CILEA.IT Prev by Author: BIOT: various Next by Author: DIAG: 5 messages (1 PT REQ) Prev by thread: DIAG: 5 messages (1 PT REQ) Next by thread: CALL: september 1996; various Index(es): Author Thread home genetic news ... sitemap Mail converted by MHonArc WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

18. National Support Groups / Information Sites marinescosjogren syndrome; Mastocytosis Society Inc. McCune-Albright syndromeAt the Magic Foundation for Children's Growth; Metachromatic Leukodystrophy; http://www.mostgene.org/support/m-n.htm

Directory of Online Genetic Support Groups M-N The inclusion of any resource or link in MoSt GeNe does not imply endorsement. They are provided for educational purposes only. Consult with your health care provider regarding how any educational information found on the Internet may apply to your own situation. - M - Macular Degeneration Foundation Malignant Hyperthermia Canadian Malignant Hyperthermia Association Malignant Hyperthermia Association of the United States International Society for Maple Syrup Urine Disease (MSUD) Family Support Group Marfan Syndrome National Marfan Foundation Marfan Association United Kingdom Marfan Association - Canada Marinesco-Sjogren Syndrome ... Mastocytosis Society Inc. McCune-Albright syndrome At the Magic Foundation for Children's Growth Metachromatic Leukodystrophy Miller Syndromes Miscarriage SANDS - a support group for parents who experience miscarriage, stillbirth, or neonatal death Hygeia: An Online Journal for Pregnancy and Neonatal Loss . "A new resource for women's health and healing." Maintained by Michael Berman, M.D. Mitochondrial Diseases International Mitochondrial Disease Network The Mitochondrial Disease Outreach Center Mitochondrial Cytopathy : at UMDF : at UMDF Mitochondrial Encephalopathy : at UMDF Mitochondrial Myopathy : at UMDF The Mitochondrial World Moebius Syndrome Foundation Morquio Syndrome at the MPS Society Mucolipidosis IV Foundation Mucopolysaccharidosis Mucopolysaccharidosis Society - U.S.A.

19. Genetic, Metabolic And Mitochondrial Disorders LandauKleffner Syndrome. marinesco-sjogren syndrome. Neurotransmitter Diseases.Prader-Willi Syndrome. Rett Syndrome. Smith-Lemli-Opitz Syndrome. http://www.apraxia-kids.org/links/linksgenetic.html

Search Site Map Home Genetic, Metabolic and Mitochondrial Disorders This page includes links to information about genetic, metabolic or mitochondrial disorders which are known to affect the intelligibility of speech and/or speech development. Angelman Syndrome Comprehensive Speech and Language Treatment for Infants, Toddlers, and Children with Down Syndrome by Libby Kumin Ph.D. Ehlers-Danlos Syndrome Fragile X – Speech and Language Therapy Fragile X checklist of symptoms Glutaric Aciduria FAQ ... Klinefelter's syndrome (also XXY) How Does XXY Affect Children? Landau-Kleffner Syndrome Marinesco-Sjogren Syndrome Neurotransmitter Diseases Prader-Willi Syndrome ... Velocardiofacial Syndrome (VCF) (also called Shprintzen Syndrome, DiGeorge Sequence and, 22q11.2 deletion) Worster Drought Syndrome Help!

20. 1Up Health Health Links Directory Conditions And Diseases marinescosjogren syndrome Information and a support group for families affectedwith this syndrome, a rare genetic disorder characterized by ataxia, cataracts http://www.1uphealth.com/links/spinal-cord-spinocerebellar-degenerations.html

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