41. Directory :: Look.com Atrophic Papulosis (4) Malnutrition (8) Mannosidosis (2) Marburg (6) Marfan Syndrome(39) MarieSainton Disease (6) marinesco-sjogren syndrome (5) Mayer http://www.look.com/searchroute/directorysearch.asp?p=43355

42. ThirdAge - Adam - Congenital Cataract cerebrohepatorenal syndrome (Lowe’s syndrome); Trisomy 13; Conradisyndrome; Ectodermal dysplasia syndrome; marinescosjogren syndrome. http://www.thirdage.com/health/adam/ency/article/001615.htm

document.write(''); document.write(''); document.write('<'); document.write('/SCRIPT>'); document.write(''); document.write(''); document.write('<'); document.write('/A>'); document.write('<'); document.write('/NOSCRIPT>'); document.write('<'); document.write('/IFRAME>'); Activities Computers Family Tree Health ... Prevention Congenital cataract Definition: A cataract is any clouding of the lens of the eye. a congenital cataract is an opacity of the lens that occurs in the fetus at some time during pregnancy and is present at birth. Alternative Names: Cataract - congenital Causes, incidence, and risk factors: Although there are many diseases and inherited disorders that can lead to congenital cataracts, the actual incidence of congenital cataracts is low. In most patients with congenital cataract, no specific cause can be identified. This is a partial list of possible causes of congenital cataracts: galactosemia chondrodysplasia syndrome congenital rubella syndrome Down's syndrome (trisomy 21) Pierre-Robin syndrome familial congenital cataracts Hallerman-Streiff syndrome cerebrohepatorenal syndrome (Lowe's syndrome) Trisomy 13 Conradi syndrome Ectodermal dysplasia syndrome Marinesco-Sjogren syndrome Eye Cataract - close-up of the eye Rubella Syndrome Cataract Review Date: 6/6/2001 Reviewed By: Edward B. Feinberg, M.D., M.P.H., Department of Ophthalmology, Boston University School of Medicine and Harvard Medical School, Boston, MA. Review provided by VeriMed Healthcare Network.

43. Medical Genetics: Research Interests Department of Medical Genetics. Birth Defects monitoring and prevention;marinescosjogren syndrome gene mapping and gene identification; http://www.southalabama.edu/genetics/research.htm

Research Interests University of South Alabama Department of Medical Genetics Birth Defects: monitoring and prevention Marinesco-Sjogren Syndrome: gene mapping and gene identification Neurofibromatosis: Type 1 and 2 ( NF-1 NF-2 ) Craniofacial Abnormalities: Syndromes related to Chromosome 22 abnormalities Connective tissue disorders: Marfan, Ehlers Danlos, Osteogenesis Imperfecta Turner Syndrome Mental Retardation Home (Academic) Clinical Information Regional Information Medical Links ... University of South Alabama, Department of Medical Genetics, (http://www.usouthal.edu/genetics/academic.htm) 214 CCCB, Mobile, Al 36688-0002 Questions/Comments Last Update

44. Neurology Publications Williams TE, Bucchalter JR, Sussman MD. Cerebellar dysplasia and unilateral cataractin marinescosjogren syndrome. Pediatric Neurology 1996; 14 158-161. http://www.orclinic.com/neuro/publications.html

Neurology General Home About Us Employment Search Site ... Remote Email Divisions Cardiology Cardiothoracic Surgery Gastroenterology General Surgery ... Physicians Publications Clinical Activity Research Links Contact Us ... Urology Publications Dr. Catherine Ellison Dr. Kimberly Goslin Dr. Richard Rosenbaum Dr. Robert Rosenbaum ... Dr. Tracy Sax Dr. Catherine Ellison (top) Daly, M.L., Swank, R.L., Ellison, C.M. Flicker fusion thresholds in Multiple Sclerosis. Arch.Neurol. 36:292-295, 1979. Dr. Kimberly Goslin (top) Books Banker G. and Goslin K. Culturing; Nerve Cells. MIT Press, Cambridge, MA 453 pps, 1991 Banker G. and Goslin K. 1998. Culturing Nerve Cells. MIT Press, Cambridge, MA 2nd edition, 1998 Articles Darby J.K., Eeder J., Riccardi V., Ferrell R., Siao D., Goslin K., Rutter W., Shooter E., and Cavalli-Sforza LL. 1985. A discordant sibship analysis between beta-NGF and neurofibromatosis. American J. Human Genertics 37:52-59. Darby JR., Shooter E., Goslin K., Riccardi VM, Huson SM, Ferrell R., Kidd J., SeizinSer BR, Fenier J., and Cavalli-Sforza LL. 1986. Linkage analysis between the beta-nerve growth factor and other chromosome lp markers and disseminated neurofibromatosis. Ann. NY Acad. Sci. 486:311-326.

45. Listings Of The World Health Conditions And Diseases http//cajunheart.tripod.com/ Added Nov-25-02; marinesco-sjogren syndrome PostReview Information and a support group for families affected with this syndrome http://listingsworld.com/Health/Conditions_and_Diseases/Neurological_Disorders/S

46. Avera Health - Congenital Cataract Lowe's syndrome); Trisomy 13; Conradi syndrome; Ectodermal dysplasiasyndrome; marinescosjogren syndrome. Symptoms Opacity of the lens http://www.avera.org/adam/ency/article/001615.htm

Disease Injury Nutrition Poison ... Cataract Congenital cataract Definition: A cataract is any clouding of the lens of the eye. a congenital cataract is an opacity of the lens that occurs in the fetus at some time during pregnancy and is present at birth. Alternative Names: Cataract - congenital Causes, incidence, and risk factors: Although there are many diseases and inherited disorders that can lead to congenital cataracts, the actual incidence of congenital cataracts is low. In most patients with congenital cataract, no specific cause can be identified. This is a partial list of possible causes of congenital cataracts: galactosemia chondrodysplasia syndrome congenital rubella syndrome Down's syndrome (trisomy 21) Pierre-Robin syndrome familial congenital cataracts Hallerman-Streiff syndrome cerebrohepatorenal syndrome (Lowe's syndrome) Trisomy 13 Conradi syndrome Ectodermal dysplasia syndrome Marinesco-Sjogren syndrome Symptoms: Opacity of the lens, often evident at birth without special viewing equipment and appearing as a whitish discoloration in an otherwise normally dark pupil. Failure of an infant to show visual awareness of the world around him or her (if present in both eyes).

47. United Mitochondrial Disease Foundation - Medical Article List By Subject Berio ; A ; 3202 hem ; marinescosjogren syndrome with chronic progressive ophthalmoplegiacaused by presumed defective oxidative phosphorylation ; Pediatr Med http://biochemgen.ucsd.edu/umdf/oxphos.htm

The UMDF Medical Article List Subject: Oxidative Phosphorylation Back to the Subject List United Mitochondrial Disease Foundation We welcome any suggested additions to our list. Last updated: 26-Jun-98 REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers Bentlage ; H ; 605* ; Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies. ; 1995 ; 227(3) ; 909-15 Berio ; A ; 3202 hem ; Marinesco-Sjogren syndrome with chronic progressive ophthalmoplegia caused by presumed defective oxidative phosphorylation ; Pediatr Med Chir ; 1996 ; 18(1) ; 99-103 Bioulac-Sage ; P ; 847 ; Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. ; Hepatology ; 1993 ; 18(4) ; 839-46 Casta ; A ; 5758 ; Perioperative white matter degeneration and death in a patient with a defect in mitochondrial oxidative phosphorylation. ; Anesthesiology ; 1997 ; 87(2) ; 420-5

48. AnsMe Directory - Health > Conditions And Diseases > M Marburg. Marfan Syndrome. MarieSainton Disease. marinesco-sjogren syndrome. MayerRokitansky Kuster Hauser Syndrome. McArdle's Disease. Measles, German. Measles,Red. http://dir.ansme.com/health/43355.html

Search: Web Sites Dictionary - Define Dictionary - Sounds Like Dictionary - Relations Dictionary - Rhymes Dictionary - Translate Sponsors Web Directory M Web Directory Health Conditions and Diseases Sub Directories MAC MPS III MRKH Machado-Joseph Disease ... Submit Site All other brands are property of their respective owners. Directory Dictionary AIM Smileys Contact Us

49. Vision Related Web Sites Gateway; marinescosjogren syndrome - home page; Medical/OphthalmologicalLinks; THE MERCK MANUAL, Section 20 Eye Disorders; Minnesota http://www.tsbvi.edu/othersites.htm

Home Site TOC Site Search About TSBVI ... Other Links Schools for the Blind in the United States Alabama Institute for Deaf and Blind Arizona School for the Deaf and Blind Arkansas School for the Blind California School for the Blind ... Wisconsin School for the Visually Impaired Organizations Academy for Certification of Vision Rehabilitation and Education Professionals (ACVREP) AERBVI-Association for Education and Rehabilitation of the Blind and Visually Impaired AFB National Technology Center APH: Louis Database of Accessible Materials - formerly CARL ET AL APH Fred's Head Database The Hall of Fame for Leaders and Legends of the Blindness Field is dedicated to preserving, honoring, and promoting the tradition of excellence manifested by the specific individuals inducted into the Hall of Fame and through the history of outstanding services provided to people who are blind or visually impaired. AIRC Membership Directory The Alliance of and for Visually Impaired Texans American Council of the Blind American Foundation for the Blind ... BrailleRoaders - an international group of braillists dedicated to the advancement into the 21st century of education of the blind. California Association of Orientation and Mobility Specialists The Clovernook Center Council Of Schools for the Blind (COSB) Home Page Christian Blind Mission International (CBMI) ... International Blind Sports Federation Homepage.

50. Genetic Lists-Q in trisomy13 syndrome ) q19 = Lowe's oculocerebrorenal syndrome Xlinked recessiveq20 = marinesco-sjogren syndrome ( partial Friedreich's ataxia, short stature http://www.geocities.com/genetic_letters/g_listq.html

Preface Jarind's Letters Sims'Letters Genetic Lists ... Letters of Signs Genetic Lists of Abnormal Genes ( Lists of Sims' Letters Hydrocephalus q1 = Anencephaly ( Multifactorial inheritance ) q2 = Ataxia telangiectasia autosomal recessive q3 = Behr's Syndrome ( partial Friedreich's ataxia, q4 = Bony defect here (in Frontal meningocoele) Multifactorial inheritance q5 = Cerebromacular degenerations ( Bielschowsky ) autosomal recessive Q6 = Crouzon's disease ( Craniofacial dysostosis ) ( Acrocephaly,hypoplastic maxilla,beaked nose, protrusion of the lower lip,exophthalmos,exotropia and hypertelorism ) Q7,q7 = Diffuse cerebral sclerosis ( Pelizaeus-Merzbacher type ) X-linked dominant? or recessive? Q8,q8 = Diffuse cerebral sclerosis ( Sholz type) ) X-linked dominant? or recessive? q9 = Epilepsy ( Multifactorial inheritance ) q10 = Familial sudanophilic leukodystrophy q11 = Franchescetti's Syndrome ( partial Friedreich's ataxia with external ophthalmoplegia ) q12 = Friedreich's ataxia ( Spinocerebellar degeneration ) Q13 = Hereditary Olivopontocerebellar Atrophy autosomal dominant q14 = Roussy-Levy Syndrome ( ataxia,pes cavus muscular atrophy )

51. M Information Sites Atrophic Papulosis@; Malnutrition@; Mannosidosis@; Marburg@; MarfanSyndrome@; MarieSainton Disease@; marinesco-sjogren syndrome@; Mayer http://www.healthorgs.com/ConditionsandDiseases/M/

HEALTHorgs.com Search The Largest Human Reviewed Health Database on Internet (Not sure of spelling? Use first letters and * such as abc* or abcd* or abcde*) Match:.. All Any Format: Long Short Search Words: Search the Internet (Not sure of spelling? Use first letters and * such as abc* or abcd* or abcde*) Match:.. All Any Format: Long Short Search Words: Top Health Conditions and Diseases : M MAC MPS III MRKH Machado-Joseph Disease ... (on approved loans) The content of the SPYorg.com directory is based on the Open Directory and is enhanced using Spyorg.com technology. Privacy Statement Add Your Site to SPYorg.com ADVERTISEMENT:

52. Vindex, De Vindplaats Van Het Nederlandse Web Malignant Atrophic Papulosis@ Malnutrition@ Mannosidosis@ Marburg@ Marfan Syndrome@MarieSainton Disease@ marinesco-sjogren syndrome@ Mayer Rokitansky Kuster http://www.vindex.nl/dir/Health/Conditions_and_Diseases/M

hulp contact persoonlijke instellingen voeg uw site toe ... Opties: Samenvatting 1 url per domein Sites in nieuw venster Staat uw webpagina nog niet in Vindex? Meld deze dan nu aan! Url: Emailadres: Zoek in de webgids: Terug naar het overzicht Huidige rubriek Health Conditions and Diseases M Subrubrieken MAC@ MPS III@ MRKH@ Machado-Joseph Disease@ ... Myotonic Dystrophy@ Links In deze rubriek zijn geen links gevonden... Kies een subrubriek of een verwante rubriek. Submit a Site Open Directory Project Become an Editor Powered by IBM -server IDG.nl vang.net Vragen? Opmerkingen? Suggesties?

53. Baylor Neurology Case Of The Month Hartnup disease, juvenile GM2 gangliosidosis, juvenile sulfatide lipidosis, maplesyrup urine disease, marinescosjogren syndrome, Refsum disease, pyruvate http://www.bcm.tmc.edu/neurol/challeng/pat25/summary.html

Patient #25 Summary and Discussion Diagnosis: Friedreich's Ataxia Patient #25 presented with progressive gait and limb ataxia, mild distal symmetrical sensory loss, dimished deep tendon reflexes, weakness of the gluteal muscles, and bilateral extensor plantar responses. These findings indicate cerebellar, peripheral nerve (or dorsal root ganglion), and corticospinal involvement and imply a multisystem degenerative disease. There was no evidence of autonomic dysfunction, and eye movements were left unaffected. Extrapyramidal involvement was not present arguing against one of the Multi-System Atrophies (MSAs), such as olivopontocerebellar atrophy (OPCA). The most salient feature in this case is the patient's marked progressive ataxia. Ataxia may be due either to cerebellar or proprioceptive dysfunction, though it is rarely difficult to distinguish the two. However, when both are present, diagnostic difficulties arise. The findings in this case - gait and limb ataxia, titubation, loss of check response, and dysdiadochokinesia - point to an abnormality in the cerebellar system. This patient also had evidence of a peripheral neuropathy with involvement of the posterior columns evidenced by decreased position and vibratory sense. The degree of proprioceptive abnormality was not sufficient to explain the marked gait disturbance, however. While this patient exhibited dysfunction in both the cerebellar and proprioceptive systems, the cerebellar involvement was most impressive. The primary defect, therefore lies somewhere in the connections to, from, or within the cerebellum.

54. Genetic Conditions enchondromatosis); Malignant hyperthermia; Maple syrup urine disease;marinescosjogren syndrome; marinesc.htmlMarfan syndrome; Menke http://www.lsmsa.edu/MKhandoker/biology/Genetics/genetic conditions.htm

A list of genetic conditions is given below. Collect information on any 5 of the following conditions and turn-in to me for credit 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) CHARGE association Chromosome anomalies - trisomy, deletions , inversions, duplications, translocations, (Wolf-Hirshhorn), (cri-du-chat, 5p-), (trisomy 9, 9p-)

55. Rehabilitation Psychology, Practice, Eth... Article, marinescosjogren syndrome Clinical and magnetic resonance imagingfeatures in three children. Identification, July,no.7 38 1996 Pages 636-44. http://www.cidg.com/~marienf/k/i/n/m012164.htm

# Article : A0009569 Cote/Call Number Auteur/Author Hagglund, Kristofer Frank, Robert G. Titre/Title Rehabilitation Psychology Article Rehabilitation psychology, practice, ethics, and a changing health care environment. Identification no.1 41 1996 Pages: 5-18 Descripteurs/Descriptors Demande par courrier Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

56. Marinesco-Sjögren Syndrome Support Group Website http//www.marinescosjogren.org E-mail marinesco-sjogren@pacbell.net.Conditions Marinesco-Sjögren syndrome. Year Established 2000 http://www.geneticalliance.org/Resources/displayorganization.html?orgname=Marine

57. MUMS List Of Disorders - M syndrome (12) *; Marfan syndrome Beals syndrome (2) *; marinescosjogrensyndrome (1) www.marinesco-sjogren.org; Marshall-Smith syndrome http://www.netnet.net/mums/mum_m.htm

Return to MUMS Home Page MUMS: List of Disorders M Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. MELAS Mitochondrial Encephalopathy Lactic Acidosis Syndrome (7) * Macrocephaly (large head) (29) Macroglossia (6) Macrosomia (abnormally large body) (2) Macular Degeneration (4) * Macular Degeneration (Infantile) * Male Pseudohermaphroditism (2) * Malignant Hyperthermia (12) * Malrotation of the Intestines (31) Mandibuloacral Dysplasia(Craniomandibular Dermatodysostis) (2) Manic Depression, Bipolar (64) * Manic Depressive Schizophrenia (19) * Mannosidosis (Glycogen Storage) (4)** Maple Syrup Urine Disease (7) * Marcus Gunn Phenomenon (Jaw Winking) (3) Marden-Walker Syndrome (7) Marfan Syndrome (12) * Marinesco-Sjogren Syndrome (1) www.marinesco-sjogren.org Marshall-Smith Syndrome (1) Mast Cell Disease (Urticaria Pigmentosa) (9) Mastocytosis (Urticaria Pigmentosa) (9) www.mastokids.org Mayer-Rokitansky-Kuster-Hauser Syndrome (absence of uterus) (7) McArdle Disease (1) * McCune-Albright Syndrome (6) ** Measles Vaccine (bad reaction) (9) * Meckel-Gruber Syndrome (2) Meckels Diverticulum (2) Mediterranean Fever, Familial (2)

58. Useful Links Marfan syndrome National Marfan Foundation http//www.marfan.org/; marinescosjogrensyndrome Support Website http//www.marinesco-sjogren.org; http://www.genetichealthvic.net.au/pages/links.html

interstate Australasian genetic service genetic societies support group sites some genetic educational sites ... Home Useful links General Website Links Royal Children's Hospital - http://www.rch.unimelb.edu.au/ Better Health Channel - http://www.betterhealth.vic.gov./ Specimen Collection - http://www.rch.unimelb.edu.au/lab services/specimen.collection.xls Royal Women's Hospital - http://www.rch.unimelb.edu.au/index-ext.html Murdoch Childrens Research Institute - http://murdoch.rch.unimelb.edu.au/ Possum - http://www.possum.net.au/ The Royal Melbourne Hospital Genetic Service - http://www.mh.org.au/RMHGenetics The University of Melbourne - http://www.unimelb.edu.au/ Department of Human Services - http://www.dhs.vic.gov.au/ Better Health Channel - http://www.betterhealth.vic.gov.au/ Medical Practitioners Board Of Victoria - http://www.mpbofv.org.au/ McMillan Shakespeare - http://www.mcms.com.au/ Monash Medical Centre - http://www.southernhealth.org.au/ Southern Health - http://www.southernhealth.org.au/

59. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli Translate this page syndrome avec craniosynostose Marfanoide syndrome retard mental type recessifMarfan, syndrome de Marinesco sjogren like syndrome de marinesco-sjogren http://orphanet.infobiogen.fr/Pat/FRM.html

Liste des maladies commençant par M Maaswinkel mooij stokvis brantsma syndrome de Maccario mena syndrome de Mac dermot patton williams syndrome de Mac dermot winter syndrome de ... Myxome-hyperpigmentation-hyperactivité endocrinienne

60. Marinesco Sjogren Syndrome R.K. Surekha, A. Panagaria, D. Sharma Neurology India Neurology India Official Journal Of the Neurological Society of India Three members of one family suffering from Marinesco Sjogren syndrome are being reported. http://www.neurologyindia.com/vol45-1/1case003.shtml

Neurology India Volume 45 Issue 1 1997 CASE REPORT Marinesco Sjogren Syndrome R.K. Surekha, A. Panagaria, D. Sharma Department of Neurology, SMS Medical College, Jaipur, India. ABSTRACT Three members of one family suffering from Marinesco Sjogren Syndrome are being reported. All the three cases had mental retardation, congenital bilateral cataracts and cerebellar ataxia. It is a rare autosomal recessive disorder. KEYWORDS IMental retardation, cataract, cerebellar ataxia. TOP HOME ISSUE INDEX PRINT INSTRUCTIONS AND OR THIS INTERNET EDITION OF NEUROLOGY INDIA - MARCH 1997 SPONSORED BY CLICK HERE FOR MORE INFORMATION ON SPONSORER

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