21. 1Up Health > Coffin-Lowry Syndrome - Birth Defects & Genetic Disorders CoffinLowry Syndrome . Read detailed information about Coffin-Lowry Syndrome. Main Article. What is coffin lowry syndrome? Is there any treatment? http://www.1uphealth.com/medical/disease/birth-defects-genetic-disease/coffin-lo

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health 1Up Health Diseases and Conditions A B C D ... Z Coffin-Lowry Syndrome Main Article What is Coffin Lowry Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

22. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Sites. coffin lowry syndrome Information sheet compiled by the NationalInstitute of Neurological Disorders and Stroke (NINDS). Coffin http://www.1uphealth.com/links/genetic-disorders-coffin-lowry-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Coffin Lowry Syndrome Description Sites Coffin Lowry Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Coffin-Lowry Syndrome Foundation Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details. Missouri Southern State College Coffin lowry syndrome, an in depth article by Terry Patterson along with some images. National Library of Medicine Coffin-Lowry syndrome, the synonyms, a summary and major features. NORD General information about coffin lowry syndrome, its alternative names and further resources. Reader Digest Health General information about The Coffin-Lowry Syndrome Foundation. Help build the largest human-edited directory on the web.

23. Coffin Lowry Syndrome coffin lowry syndrome coffin lowry syndrome factsheet NationalInstitute for Neurological Disorders and Stroke. disclaimer. http://www.ion.ucl.ac.uk/library/patient/coffin.htm

Coffin Lowry syndrome Coffin Lowry syndrome factsheet: National Institute for Neurological Disorders and Stroke

24. Searchalot Directory For Coffin Lowry Syndrome Sponsored Links. Top Health Conditions and Diseases Genetic Disorders CoffinLowry Syndrome (6). Related Web Sites. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Coff

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25. Directory :: Look.com coffin lowry syndrome (6) Sites. coffin lowry syndrome Information sheet compiledby the National Institute of Neurological Disorders and Stroke (NINDS). http://www.look.com/searchroute/directorysearch.asp?p=521012

26. Mioti: Medical Condition not available. NORD coffin lowry syndrome....... Condition coffin lowry syndrome. Neuromuscular Coffin LowrySyndrome. http://www.mioti.com/cat/condition/condition.asp?Cat=CoffinLowry

27. Medicalseek - Search Engine For The Healthcare Industry Conditions and DiseasesGenetic Disorderscoffin lowry syndrome coffin lowry syndromeInformation sheet compiled by the National Institute of Neurological http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Coffin_Lowr

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Genetic Disorders Coffin Lowry Syndrome Conditions and Diseases:Genetic Disorders:Coffin Lowry Syndrome Coffin Lowry Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). ninds.nih.gov/health_and_medical/disord... Coffin-Lowry Syndrome Foundation Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details. clsfoundation.tripod.com/ Missouri Southern State College Coffin lowry syndrome, an in depth article by Terry Patterson along with some images. mssc.edu/biology/B305/GTS/ss97/coflowry... National Library of Medicine Coffin-Lowry syndrome, the synonyms, a summary and major features. nlm.nih.gov/mesh/jablonski/syndromes/sy... NORD General information about coffin lowry syndrome, its alternative names and further resources. stepstn.com/cgi-win/nord.exe?proc=Redir... Reader Digest Health General information about The Coffin-Lowry Syndrome Foundation. rd.com/common/nav/index.jhtml?articleId...

28. ClinicalTrials.gov - Linking Patients To Medical Research Basic Search Clinical Trials. Enter words or phrases, separated by commas Tipslowry was not found. Select an alternative below or change your query. http://www.clinicaltrials.gov/search/term=Coffin Lowry Syndrome

29. Listings Of The World Health Conditions And Diseases Genetic Listings World Health Conditions and Diseases Genetic Disorderscoffin lowry syndrome. Listings World, Over 2 http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Coffin

30. Canadian Directory Of Genetic Support Groups Syndrome, Williams Syndrome) Cobalamin Network (Cobalamin (B12) Deficiency) CoffinLowrySyndrome Foundation (coffin lowry syndrome) Congenital Adrenal http://www.lhsc.on.ca/programs/medgenet/c_sup.htm

Index by support group Canadian Directory of Genetic Support Groups Canadian Alopecia Areata Association (Alopecia Areata) Canadian Angelman Syndrome Society (Angelman Syndrome) C.A.S.T. (Canadian Arthrogryposis Support Team) (Arthrogryposis) Canadian Association for Community Living (Down Syndrome, Developmental Delay, Autism, Chromosome Abnormality, Trisomy 18, 13) Canadian Association for Williams Syndrome (CAWS) (Williams Syndrome) Canadian Association for People Who Stutter (CAPS) (Stuttering) Canadian Association of Friedreich's Ataxia Friedreich's Ataxia) Canadian Association of Speech-Language Pathologists and Audiologists Hearing Impairment, Speech Impairment, Deafness) Canadian Cancer Society (Cancer) Canadian Celiac Association (Celiac Disease) Canadian Centre on Substance Abuse (Abuse of alcohol, tobacco and other drugs)

31. Coffin Lowry Syndrome Website Results :: Linkspider UK coffin lowry syndrome Websites from the Linkspider UK. coffin lowry syndromeDirectory. Complete Results for coffin lowry syndrome Related Topics. http://www.linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Coffin

Coffin Lowry Syndrome Websites from Linkspider UK Keyword: Coffin Lowry Syndrome Linkspider UK Directory Coffin Lowry Syndrome Search for Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Coffin Lowry Syndrome (6) Add URL Advertise Here! Personalize Amazon ... Coffin-Lowry Syndrome Foundation - Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details. Coffin Lowry Syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). NORD - General information about coffin lowry syndrome, its alternative names and further resources. Missouri Southern State College - Coffin lowry syndrome, an in depth article by Terry Patterson along with some images. National Library of Medicine - Coffin-Lowry syndrome, the synonyms, a summary and major features. Reader Digest Health - General information about The Coffin-Lowry Syndrome Foundation.

32. Coffin-Lowry Syndrome coffinlowry syndrome information and resources, genetic information, support groups coffin-lowry syndrome. coffin-lowry syndrome Foundation. c/o Mary Hoffman http://www.kumc.edu/gec/support/coffin_l.html

Coffin-Lowry syndrome Coffin-Lowry Syndrome Foundation c/o Mary Hoffman 3045 255th Avenue S.E. Sammamish, WA 98075 Phone: 425-427-0939 after 5:30 p.m. weekdays PST or weekends E-mail: CLSFoundation@yahoo.com Web Site: http://clsfoundation.tripod.com Also See: National organizations , information on genetic conditions or birth defects To locate a genetic counselor or clinical geneticist: National Society of Genetic Counselors ResourceLink Professional Genetics Societies Genetic clinics, centers, departments Revised April 6, 2001 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) of the Health On the Net Foundation

33. Coffin-Lowry Syndrome Foundation Welcome Page Welcome. Welcome to The coffinlowry syndrome Foundation Home Page. coffin-lowrysyndrome Foundation. Attn Mary C. Hoffman. 3045 255th Avenue SE. http://clsfoundation.tripod.com/Welcome.htm

Welcome Welcome to The Coffin-Lowry Syndrome Foundation Home Page. The purpose of this web site is to provide a clearinghouse for information on Coffin-Lowry Syndrome (CLS), and to provide families affected by Coffin-Lowry syndrome a general forum in which to exchange information, ideas and advice. CLSF provides family matching services, telephone support, an informational database and publishes a newsletter, CLSF News. The newsletter is available in hard-copy and on this web site. CLSF is a non-profit organization and is funded solely by donations and change I find under the couch cushions. Contact CLSF at 425-427-0939 M-F after 6pm PST or at CLSFoundation@yahoo.com. Coffin-Lowry Syndrome Foundation Attn: Mary C. Hoffman 3045 255th Avenue S.E. Sammamish, WA 98075 ".....we can reject everything else: religion, ideology, all received wisdom. But we cannot escape the necessity of love and compassion... This, then, is my true religion, my simple faith. In this sense, there is no need for temple or church, for mosque or synagogue, no need for complicated philosophy, doctrine or dogma. Our own heart, our own mind, is the temple. The doctrine is compassion. Love for others and respect for their rights and dignity, no matter who or what they are: ultimately these are all we need. So long as we practice these in our daily lives, then no matter if we are learned or unlearned, whether we believe in Buddha or God, or follow some other religion or none at all, as long as we have compassion for others and conduct ourselves with restraint out of a sense of responsibility, there is no doubt we will be happy." His Holiness the Dalai Lama

34. Specific Diagnoses (C - D) Anorectal Malformation; Cockayne syndrome; coffinlowry syndrome;coffin Siris syndrome; Cognitive Disability; Communication Disorders; http://www.familyvillage.wisc.edu/card_cd.htm

Specific Diagnoses (C - D) C Canavan Disease See Leukodystrophy Cancer Carbamyl Phosphate Synthesis (CPS) Deficiency See Urea Cycle Disorders Carbohydrate-Deficient Glycoprotein Syndrome Carnitine Disorders Cardio-Facio-Cutaneous Syndrome Cartilage-Hair Hypoplasia See Growth Disorders Celiac Central Auditory Processing Disorder Central Hypoventilation Syndrome ... Chromosome Disorders Chronic Epstein-Barr Virus See Chronic Fatigue Syndrome (CFS) Chronic Fatigue Immune Dysfunction Syndrome (CFIDS) See Chronic Fatigue Syndrome (CFS) Chronic Fatigue Syndrome (CFS) Chronic Myofascial Pain Syndrome See Myofascial Pain Syndrome Churg-Strauss Syndrome Citrullinemia See Urea Cycle Disorders Cleft Palate Cloaca See Anorectal Malformation Cockayne Syndrome Coffin-Lowry Syndrome Coffin Siris Syndrome ... Communication Disorders Congenital Adrenal Hyperplasia See Adrenal Hyperplasia Congenital Diabetes Insipidus See Diabetes Insipidus Congenital Diaphragmatic Hernia Congenital Fiber Type Disproportion Congenital Heart Defect See Heart Disorders Congenital Hypomyelination Myelin Disorders Congential Myotonic Muscular Dystrophy See Myotonic Muscular Dystrophy Conjoined Twins Cooley's Anemia See Thalassemia Cornelia de Lange Syndrome Craniofacial Disorders Creutzfeldt-Jakob Disease ... Cytomegalovirus (CMV) D Dandy Walker Deaf / Hard of Hearing Deaf-Blind Depression ... DiGeorge Syndrome Dipsogenic Diabetes Insipidus See Diabetes Insipidus Dizziness Down Syndrome Dwarfism ... Dystrophic Epidermolysis Bullosa Back to [ Specific Diagnoses Card Catalog A - B C - D E - F ... Information Last updated Monday, July 01, 2002 by

35. Coffin-Lowry Syndrome Foundation coffinlowry syndrome Foundation, a parent support group for families affectedby coffin-lowry syndrome. Thank you! coffin-lowry syndrome Foundation. http://clsf.freeyellow.com/

The Coffin-Lowry Syndrome Foundation web site has moved. Please click here - and update your bookmark. Thank you! Coffin-Lowry Syndrome Foundation c/o Mary Hoffman 3045 255th Avenue S.E. Sammamish, WA 98075 425-427-0939 after 5p.m. weekdays PST or anytime on weekends Email: CLSFoundation@yahoo.com

36. BIBLIOGRAPHIE Novel mutations in Rsk2, the gene for coffin-lowry syndrome (CLS). Eur. J.Hum. Genet. coffin-lowry syndrome and schizophrenia a family report. http://alsace.u-strasbg.fr/chimbio/diag/coffin/biblio/

laboratoire du Professeur Jean-Louis MANDEL du Professeur Charles SCHWARTZ du " GREENWOOD GENETICS CENTER " GREENWOOD USA BIBLIOGRAPHIE ID. Publication Abstract Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz CE. Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). Eur. J. Hum. Genet. (1999) 7: 20-26. Biancalana V., Briard ML., David A., Gilgenkrantz S., Kaplan J., Mathieu M., Piussan Ch., Poncin J., Shinzel A., Oudet C., Hanauer A Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. Am. J. Hum Gen. (1992) 50:981-987. Biancalana V, Trivier E, Weber C, Weissenbach J, Rowe PSN, O'Riordan JLH, Partington MW, Heyberger S, Oudet C, Hanauer A. Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene. Genomics (1994) 22:617-625. Bird H, Collins AL, Oley C, Lindsay S. Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22. Am J Med Genet (1995) 59:512-516 SEQ Bjorbaek C, Vik TA, Echwald SM, Yang PY, Vestergaard H, Wang JP, Webb GC, Richmond K, Hansen T, Erikson RL, Gabor Miklos GL, Cohen PTW, Pederson O. Cloning of a human insulin-stimulated protein kinase (ISPK-1) gene and analysis of coding regions and mRNA levels of the ISPK-1 and the protein phosphatase-1 genes in muscle from NIDDM patients. Diabetes (1995) 44; 90-97.

37. COFFIN-LOWRY SYNDROME Features Listed For coffinlowry syndrome. McKusick 303600. Coarse facialfeatures; Deafness, sensorineural; Delayed bone age; Flat malar region; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?328

38. Health Library - Coffin-Lowry Syndrome coffinlowry syndrome. Self Help Clearinghouse. The coffin-lowrysyndrome Foundation. International network. Founded http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29c

39. Mutation Analysis In Coffin-Lowry Syndrome Patients researchproject. Mutation analysis in coffinlowry syndrome patients.Following linkage analysis, families with one or several probands http://www.research-projects.unizh.ch/med/unit42200/area313/p773.htm

research project Mutation analysis in Coffin-Lowry syndrome patients Following linkage analysis, families with one or several probands affected with Coffin-Lowry syndrome were subjected to mutation anlysis in the CLS gene. Several hitherto undescribed mutations and a family with germline mosaicism were detected. Collaboration: physicians in Switzerland Publications Merienne et al. J Med Genet 1998;63:1153-1159 Jacquot et al. Eur J Hum Genet 1998;6:578-582 Contacts Prof. A. Schinzel schinzel@medgen.unizh.ch Dr. A. Hanauer (Project Leader) Last Update Responsible Project Leader: Dr. A. Hanauer Professor or Research Area Leader: Prof. Dr. Albert Schinzel Institute or Clinic: Faculty: Use the Eurospider retrieval system to find similar projects Use the Eurospider retrieval system to search the research report For authorized person(s) only Comments to uni research page generation 06.03.2003

40. Prof. Dr. Albert Schinzel Hanauer. Mutation analysis in coffinlowry syndrome patients. Mutationanalysis in coffin-lowry syndrome patients. Hergersberg. Mutation http://www.research-projects.unizh.ch/med/unit42200/area313/

research area Prof. Dr. Albert Schinzel Current Research Projects by Project Leaders N.N. Candidate genes for psychiatric disorders (schizophrenia and bipolar psychosis) Hanauer Mutation analysis in Coffin-Lowry syndrome patients Mutation analysis in Coffin-Lowry syndrome patients Hergersberg Mutation analysis in X-linked diseases: Rett syndrome, McLeod syndrome, and fragile X-Syndrome Mutation analysis in X-linked diseases: Deletion analysis on the X chromosome Mutation analysis in the neurofibromatosis 2 gene Mutation analysis in the HLXB9 gene in the DNA of probands with anal sphincter dysplasia ... Localization of genes for inherited ophthalmological syndromes Schinzel Investigation of the origin of de novo extra chromosomes and structural rearrangements through chromosome dissection and reverse painting Clinical delineation of malformation syndromes of genetic etiology Human Cytogenetic Database and Catalogue of Chromosome Aberrations in Man The contribution of Connexin26 mutations to severe congenital sensori-neural deafness Schinzel / Baumer Prader-Willi syndrome and Angelman syndrome: ascertainment of deletions, uniparental disomy, imprinting defects, UBE3A mutations

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