61. GEMdatabase - Selected Title TITLE, smithmagenis syndrome. DESCRIPTION, This review focuses on the and genetic counseling of patients and families with smith-magenis syndrome. http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=1000

62. Clinical Dysmorphology - UserLogin smithmagenis syndrome and cyanotic congenital heart disease a case report The spectrum of clinical features in the smith-magenis syndrome (SMS) was http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200301000-00014.htm

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63. Smith-Magenis Syndrome - General Practice Notebook The Smith Magenis Syndrome Foundation Patien www.patient.co.uk/showd The Smith Magenis Syndrome Foundation Patien www.patient.co.uk/showd http://www.gpnotebook.co.uk/medwebpage.cfm?ID=-1395654602

64. Smith-Magenis Syndrome smithmagenis syndrome. This article submitted by Melody M. Joliat on 8/30/95. Does anyone out there know what smith-magenis syndrome is? http://neuro-www.mgh.harvard.edu/neurowebforum/GeneralFeedbackArticles/SmithMage

Smith-Magenis Syndrome This article submitted by Melody M. Joliat on 8/30/95. Does anyone out there know what Smith-Magenis Syndrome is My grandson was clinically diagnosed with Williams Syndrome but has no gene deletions; nowm a year later, he will be tested for Smith-Magenis Syndrome. From what I've heard, it is a rare syndrome. I have been unable up to this point to find out any information on it. Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... SMS online info (1/5/96) 15:39 support group (8/30/95) 2:58 PM You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article! If you would like to post a Response to this article, fill out this form completely... Do not use slashes ("/") or colons (":") in your Article title! Response Title: Author: Response Text: Original Article: (Don't change this field!) Forum: (Don't change this field either!) Article complete. Click HERE to return to the Neurology Web-Forum Menu.

65. Geneticalliance.org Parents and Researchers Interested in smithmagenis syndrome PO Box 741914 Dallas, TX 75374-1914 Phone 972.231.0035 Fax 413.826.6539 http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

66. Volunteer With PRISMS (Parents And Researchers Interested In Smith-Magenis Syndr PRISMS (Parents and Researchers Interested in smithmagenis syndrome) is smith-magenis syndrome (SMS) is associated with a small, missing section http://www.volunteermatch.org/orgs/org26080.html

Skip over navigation VolunteerMatch is currently experiencing network delays More Hurricane Relief How you can help now [ Go Home Search Volunteers ... Virtual Refine Your Search Organization Name ZIP Code Distance 5 miles 10 miles 20 miles 60 miles City County Metro Area State Interest Area Everything Animals Board Development Community Crisis Support Disabled Employment Environment Hunger Hurricane Relief International Politics Religion Seniors Women City State AL AK AS AZ AR CA CO CT DE DC FM FL GA GU HI ID IL IN IA KS KY LA ME MH MD MA MI MN MS MO MT NE NV NH NJ NM NY NC ND MP OH OK OR PW PA PR RI SC SD TN TX UT VT VI VA WA WV WI WY Preferred Partners Everything AARP America's Second Harvest American Humane Assoc American Red Cross ASDVS Camp Fire USA Hands On Network Hostelling International Keep America Beautiful National CASA USA Freedom Corps Everything AmeriCorps Senior Corps Peace Corps Citizen Corps Advanced Search setSearchVis('optional'); FEEDBACK Comments or praise about this volunteer organization? Send VolunteerMatch your feedback. We want to hear from you. Share Your Feedback Organization Detail PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) Back Mission Statement PRISMS is dedicated to providing information and support to families of persons with Smith-Magenis Syndrome (SMS) and fostering partnerships with professionals to increase awareness and understanding of SMS.

67. SMCR - Smith-Magenis Syndrome Chromosome Region Given our previous hypothesis that SMS is a contiguous gene syndrome, complete and The following synonyms exist for gene SMCR (smithmagenis syndrome http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/92271.html

The locus is deleted in 30 of 31 SMS patients. Abstract-312248 We report that the gene for topoisomerase III ( ) is commonly deleted in SMS patients and maps between D17S447 and D17S258 on the short arm of chromosome 17 Abstract-1319769 2. The basic organization of the cSHMT locus on chromosome 17 was determined and was found to be deleted in all 26 SMS patients examined by PCR, FISH, and/or Southern analysis. Abstract-450229 The majority of SMS patients are deleted for a common approximately 4 Mb interval that includes the gene , a transmembrane transcription factor that regulates the low density lipoprotein (LDL) receptor and plays a crucial role in cholesterol homeostasis. Abstract-9603943 The possible effects of cSHMT hemizygosity on the SMS phenotype are discussed. Abstract-450229 Here, we demonstrate that the human homologue ( FLI ) maps within the SMS critical region. Abstract-150660 SGN3 maps to the distal portion of the SMS critical interval, between

68. Smith-Magenis Syndrome - 12/05/2004 - PRIV smithmagenis syndrome Page 8911 Mr PAUL GIBSON (Blacktown) 5.07 pm I am sure that not too many members know much about smith-magenis syndrome SMS, http://www.parliament.nsw.gov.au/prod/parlment/hansart.nsf/V3Key/LA20040512026

Home Legislative Assembly NSW Legislative Assembly Hansard SMITH-MAGENIS SYNDROME Page: 8911 Mr PAUL GIBSON Since then they have been working hard to create an awareness of this terrible disease. SMS is a battle for any family: it is a problem that must be contended with 24 hours a day, 7 days a week, 365 days a year. Even though the Goswells are very young, they are finding it virtually impossible to control and live with the disease. They organised the first Australian conference in February this year, held at Westmead Hospital. It was very successful. Some 75 doctors attended, along with professionals from all over Australia. Three doctors from America attended the conference. One of the guest speakers was a professor who founded the syndrome, Professor Anne Smith. NSW Legislative Assembly Hansard, 12 May 2004, Pages 66 - (article 26) Full Day Transcript Site Help Site Map A-Z Contact Us ... ·by Subject Site Search Search Options Search Help Subjects: Handicapped and Disabled Diseases: Smith-Magenis syndrome (SMS) Speakers: Gibson Mr Paul Speech Type: PRIV; Private Members Statements

69. Hansard By Subject DISEASES smithmagenis syndrome (SMS) in Hansard. 12/05/2004PRIVsmith-magenis syndrome Site Help Site Map AZ Contact Us Copyright Conditions http://www.parliament.nsw.gov.au/prod/parlment/hansart.nsf/V3HHBSubject?open&vwC

70. Agtc - “Analysis Of 17p11.2 Deletions And Candidate Gene Characterization I Postdoctoral Candidate seminar Friday January 21, 1100 am “Analysis of 17p11.2 deletions and candidate gene characterization in smithmagenis syndrome. http://agtc.wayne.edu:9080/agtc/Members/danliu/vlangos/view

@import url(http://agtc.wayne.edu:9080/agtc/ploneColumns.css); @import url(http://agtc.wayne.edu:9080/agtc/plone.css); @import url(http://agtc.wayne.edu:9080/agtc/ploneCustom.css); Skip to content Small Text Normal Text Large Text Search agtc Sections Home News Members Personal tools You are not logged in Log in Join You are here: Home Members danliu's Home “Analysis of 17p11.2 deletions and candidate gene characterization in Smith-Magenis syndrome.” Navigation Home Microarray Sequencing DNA Isolation Genotyping Software Projects Software Pricing Publications Links Members danliu's Home marray Contact Related Local resources AGTC Seminar Series AGTC Seminar Series AGTC Seminar Series (Open Forum) AGTC Seminar Series - Illumina AGTC Seminar Series - Agilent AGTC Seminar Series - LSGraph Howard Cash - Invited Speaker R / Bioconductor Workshop NCBI Onsite Training Shiffman Workstation Training “Analysis of 17p11.2 deletions and candidate gene characterization in Smith-Magenis syndrome.”

71. Smith-Magenis Syndrome Return To Main Menu Five-year-old Beth Has smithmagenis syndrome. Return to Main Menu. Five-year-old Beth has smith-magenis syndrome (SMS). SMS is caused by a deletion mutation of chromosome 17. http://www.mhhe.com/biosci/genbio/casestudies/junkfood.mhtml

Smith-Magenis Syndrome Return to Main Menu Five-year-old Beth has Smith-Magenis syndrome (SMS). SMS is caused by a deletion mutation of chromosome 17. Along with facial and skull abnormalities, which her parents first noticed when she was just a baby, Beth has several cognitive and behavioral problems, including mental retardation, tantrums, hyperactivity, attention deficit, and self-injury. She also has a severe sleep disturbance. Beth’s sleep pattern is very different from that of a typical child her age. She awakens at least once every night and then has a hard time getting back to sleep. She is usually awake to stay by 4 or 5 a.m. As a result, she feels extremely sleepy during the day, and has sudden “sleep attacks.” Beth’s tiredness contributes to her cognitive and behavioral difficulties. However, new research may soon help Beth and others with SMS get the sleep they need. Dr. Hélène De Leersnyder of Necker-Enfants Malades Hospital in Paris became interested in the sleep disturbance aspect of SMS when she attended a meeting of parents of children with SMS. She was intrigued by the parents’ unanimous reports of their children’s sleep troubles. De Leersnyder and some of her colleagues decided to see if they could discover the cause of the SMS sleep disturbance. The researchers found that individuals with SMS have an “inverted circadian rhythm of melatonin.” In other words, the timing of the rise and fall in their levels of the hormone melatonin is the opposite of what it should be. In an individual with a normal sleep cycle, levels of melatonin fluctuate in a predictable way—that is, melatonin peaks at night, causing drowsiness, and then subsides, reaching its lowest level in the middle of the day. But in people with SMS, melatonin levels are lowest at night and highest during the day. The results of this study were presented at the annual meeting of the American Society of Human Genetics in 1999.

72. Opera Directory NORD Smith Magenis Syndrome. Offers the synonyms, a general discussion and PRISMS (Parents and Researchers Interested in smithmagenis syndrome) http://portal.opera.com/directory/?cat=552316

73. Sarah H. Elsea, Ph.D. Elsea Laboratory (smithmagenis syndrome Research) smith-magenis syndrome. SMS is a multiple congenital anomalies/mental retardation syndrome associated http://www.msu.edu/unit/phd/profiles/el/Elsea.htm

Home About our Department Clinical Services Find Us ... Site Map Click on last name for E-mail Sarah H. Elsea , Ph.D. Assistant Professor Specialty: Genetics Degree: Ph.D., Vanderbilt University School of Medicine, Nashville, TN Certification: American Board of Medical Genetics/Clinical Biochemical Genetics Web Links: DNA Diagnostic Laboratory Elsea Laboratory (Smith-Magenis Syndrome Research) Academic Office: Clinical Location: B-238 Life Sciences Building East Lansing, MI 48824 Phone: (517) 432-0868 Fax: (517) 353-8464 Professional Memberships: American Chemical Society American Institute of Chemists American College of Medical Genetics Association of Molecular Pathology American Society of Human Genetics Research: Currently focused in a few areas in human molecular genetics: Molecular analysis of Smith-Magenis syndrome Incidence of hereditary hemochromatosis (HH) alleles in the Michigan population and utilization of genetic testing for HFE mutations Incidence of cystic fibrosis (CF) mutations in the Michigan population My overall goal is to understand the biochemical mechanisms and/or pathways underlying human genetic disease. My specific funded research focuses on the identification and characterization of genes responsible for the chromosome microdeletion disorder known as Smith-Magenis syndrome (SMS).

74. The Smith-Magenis Syndrome Foundation - Patient UK The smithmagenis syndrome Foundation - Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient http://www.patient.co.uk/showdoc/27000238/

The Smith-Magenis Syndrome Foundation Web: www.smith-magenis.co.uk The SMS Foundation is a Registered Charity and its goals are as follows:- Preserve and protect the health and promote the relief of persons affected by SMS and by any associated condition. Advance the education of the medical profession and the general public on the subject of SMS and its implications for the family. Advance public education by promoting research into the management of SMS and to publish useful results therefor and to support organisations promoting research into SMS. Checked: March 2005 Sponsored links and adverts Patient UK has no control of the content of the following links. Inclusion does not imply endorsement by Patient UK. Health Related Books From Amazon - browse hundreds of books on health and disease. Also, worth a look... Related pages in Patient UK Other - Useful resources Pictures, diagrams, photos, images, etc. Evidence based medicine Online textbooks and journals Guidelines ... Top of Page Further services Need an operation but on a waiting list ? Are you considering having it done privately but are not insured? Find the best prices for your operation Next of Kin . In an emergency, alerts paramedics with your vital medical or allergy information. Plus immediate contact with your family or next of kin.

75. PEDSLEEP Archives - December 1999 Re smithmagenis syndrome (Mark G. Goetting) (23 lines) From Avi Sadeh sadeh@post.tau.ac.il Date Mon, 13 Dec 1999 143547 +0200 http://listserv.tau.ac.il/cgi-bin/wa?A1=ind9912&L=pedsleep

76. Behavioral Characterization Of Mouse Models For Smith-Magenis Syndrome And Dup(1 evolution of the smithmagenis syndrome repeat gene clusters, SMS-REPs. in a chromosome engineered partial mouse model for smith-magenis syndrome http://hmg.oxfordjournals.org/cgi/content/full/13/4/367

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Human Molecular Genetics Advance Access originally published online on January 6, 2004 This Article Abstract FREE Full Text (PDF) All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (3) Request Permissions PubMed PubMed Citation Articles by Walz, K. Articles by Paylor, R. Human Molecular Genetics, 2004, Vol. 13, No. 4 DOI: 10.1093/hmg/ddh044 Katherina Walz Corinne Spencer Krista Kaasik Cheng C. Lee James R. Lupski and Richard Paylor Department of Molecular and Human Genetics and Department of Pediatrics, Division of Neurosciences, Baylor College of Medicine, Houston, TX 77030, USA and Texas Children's Hospital, Houston, TX 77030, USA

77. Behavioral Characterization Of Mouse Models For Smith-Magenis Syndrome And Dup 1 smithmagenis syndrome and dup(17)(p11.2p11.2) are CGS associated with a heterozygous deletion or duplication of band p11.2 of chromosome 17, respectively http://hmg.oxfordjournals.org/cgi/content/short/ddh044v1

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Human Molecular Genetics Advance Access published online on January 6, 2004 Human Molecular Genetics, doi:10.1093/hmg/ddh044 Oxford University Press This Article Advance Access manuscript (PDF) All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Walz, K. Articles by Paylor, R. Article Behavioral characterization of mouse models for Smith-Magenis Syndrome and Dup 17 (p11.2 p11.2) Katherina Walz Corinne Spencer Krista Kaasik Cheng C. Lee James R. Lupski and Richard Paylor To whom correspondence should be addressed. E-mail: Abstract Contiguous gene syndromes (CGS) refer to a group of disorders associated with chromosomal rearrangements in which the phenotype is thought to result from altered copy number of physically linked dosage sensitive genes. Smith-Magenis Syndrome and [dup(17)(p11.2p11.2)]

78. Characterization Of Self-Injurious Behaviors In Children And Adults With Smith-M (SIB) distinguishes smithmagenis syndrome from many other genetic disorders. types of SIB in 29 children and adults with smith-magenis syndrome. http://aamr.allenpress.com/aamronline/?request=get-abstract&doi=10.1352/0895-801

79. Search By Disease SmithLemli-Opitz syndrome, type I. 144, Smith-Magenis chromosome region (SMCR). 145, smith-magenis syndrome. 146, smith-magenis syndrome http://www.eddnal.com/directory/disease.php?letter=S&page=10

80. Qango : Health: Diseases And Conditions: S: Smith-Magenis Syndrome (SMS) smithmagenis syndrome (SMS), all of Qango only this category, Options Help Home Health Diseases and Conditions S smith-magenis syndrome (SMS) http://www.qango.com/dir/Health/Diseases_and_Conditions/S/Smith-Magenis_Syndrome

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Smith-Magenis Syndrome (SMS) all of Qango only this category Options Help Home Health ... S > Smith-Magenis Syndrome (SMS) Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... S > Smith-Magenis Syndrome (SMS) Suggest a Site Home Suggest a Site Search ... Login

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