Index Information and a support group for families affected with this syndrome, a rare genetic disorder Category Health Conditions and Diseasesmarinescosjogren syndrome (MSS) is a very rare genetic disorder characterized byataxia (balance and coordination problems), post-natal cataracts, generally http://www.marinesco-sjogren.org/
Extractions: 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 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
Extractions: 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
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
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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
Extractions: 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 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.
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
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
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
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=
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
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
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
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
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
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
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
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
Extractions: 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 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
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
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
