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Smith-magenis Syndrome:     more detail

All about Me!: One Family's Experience with Smith-Magenis Syndrome by Shirley Dechaine, 2005-01 A case study of early development in Smith-Magenis Syndrome.: An article from: Focus on Autism and Other Developmental Disabilities by Deborah J. Fidler, Amy D. Philofsky, et all 2006-09-22 Smith-Magenis Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18 Smith-Magenis syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Genevieve, PhD Slomski, 2005 An examination of Smith-Magenis syndrome and educational programming for identified students by Tami J Sens, 1999

lists with details

81. NEJM -- Sign In
    has learned over the years from his patients with Shprintzen's syndrome and whatAnn Smith has learned from her patients with the Smith–Magenis syndrome.  
    http://content.nejm.org/cgi/content/full/345/6/472-a
    
    Extractions: Registered Users User Name Password Remember my user name and password. Forgotten the password? If you do not use cookies sign in here If you have purchased access to an article or the Journal website, you may regain access here First-Time Users If you are a Journal subscriber using the Journal On-line for the first time, you must register and choose a password. If you are not a Journal subscriber subscribe here If you would like full access to the Journal Web site for 24 hours for $29, click here

82. Registered Disorders Chromosome Deletion Outreach, Inc. (CDO) Rare Chromosome Di
    17p 10, 17q 1. 17p del Smith Magenis syndrome and possible SmithLemli-Opitzsyndrome 1. 17p del NOT Smith Magenis syndrome or Miller Dieker syndrome 2.  
    http://www.chromodisorder.org/disorder.htm
    
    Extractions: About CDO Contact Us Join CDO Donate ... Volunteer Select a Page More about Chromosome Deletion Outreach Registered Chromosome Disorders CDO Family Stories Intro to Chromosome Abnormalities Ask the Doctor Library Resources Secure Application Form CDO Angels NICU Stories Guestbook T-Shirts FAQS Inspirational Chromosome Disorders Registered with Chromosome Deletion Outreach, Inc. Last updated February 21, 2003 CDO represents over 1800 families and professionals living in Argentina, Australia, Belgium, Bosnia Hercegovina, Brazil, Canada, Chile, China (Hong Kong), Denmark, England, Finland, France, Germany, Guatemala, India, Ireland, Italy, Luxembourg, Malta, Malaysia, New Zealand, Norway, Puerto Rico, Phillipines, Russia, Saudia Arabia, Scotland, South Africa, Spain, Sweden, Switzerland, The Netherlands, Thailand, and The United States. Below are listed chromosome abnormalities registered with CDO. They are listed by broad categories including deletions, duplications, translocations, rings; and which arm (p or q) is involved. Detailed information regarding the number of members affected with a particular disorder is now also shown below in brackets beside each listing. **IMPORTANT** Due to the rapid increase in the size of our database; translocations, rings and other disorders are now shown on separate pages. Please see link below.

83. Smith-magenis
    The summary for this Korean page contains characters that cannot be correctly displayed in this language/character set.  
    http://cau.ac.kr/~koreangd/dis/smith-magenis/text.htm
    
    Extractions: ½º¹Ì½º-¸¶Á¦´Ï½º ÁõÈıºÀ̶õ 17¹ø ¿°»ö¼ÀÇ °á½Ç·Î ÀÎÇØ À¯¹ßµÇ´Â ÁúȯÀ¸·Î ¹ßÀ°Áö¿¬, ÇнÀÀå¾Ö, Á¤½ÅÁö¼, ªÀº ½ÅÀå, ¾ó±¼ÇüÅÂÀÇ ÀÌ»ó, ºñÁ¤»óÀûÀÎ ±Í¸ð¾ç, ´«ÀÇ ÀÌ»ó, ªÀº ¼Õ°¡¶ô ¹× ¹ß°¡¶ô, ¼ö¸éÀå¾Ö, ÇൿÀå¾Ö µîÀÌ Æ¯ÀÌÀû Áõ»óÀ¸·Î ³ªÅ¸³ª´Â °ÍÀ¸·Î ¾Ë·ÁÁ® ÀÖ´Ù. ƯÈ÷ ÇൿÀå¾Ö¿¡´Â ¿©·¯ °¡Áö°¡ Àִµ¥ È°µ¿°ú´Ù(hyperactivity), ¸Ó¸® ºÎµúÄ¡±â(headbanging), ¼ÕÅé ¹°¾î¶â±â µîÀÌ ÀÖ´Ù. ¶ÇÇÑ µå¹°°Ô ½ÉÀåÁúȯ, ¿äµµÀÌ»ó, ±¸¼ø¿­ µîÀÇ Áõ»óÀÌ ³ªÅ¸³­´Ù. ½º¹Ì½º-¸¶Á¦´Ï½º ÁõÈıºÀÇ ¹ß»ýºóµµ´Â ¾à 25,000¸í´ç 1¸í²ÀÎ °ÍÀ¸·Î ¾Ë·ÁÁ® ÀÖ´Ù. ½º¹Ì½º-¸¶Á¦´Ï½º ÁõÈıºÀº 17¹ø ¿°»ö¼ÀÇ Àå¿ÏÀÇ 11.2ºÎºÐ(17q11.2)ÀÇ °á½Ç¿¡ ÀÇÇØ À¯¹ßµÈ´Ù(contiguous gene syndrome). ¶ÇÇÑ °°Àº À§Ä¡¿¡ ½º¹Ì½º-¸¶Á¦´Ï½º ÁõÈıºÀÇ °á½ÇºÎÀ§º¸´Ù ´õ Àû°Ô °á½ÇµÇ¾î ³ªÅ¸³ª´Â Charcot-Marie-Tooth disease type1A(CMT1A)¶ó´Â ÁúȯÀÌ ÀÖÀ¸¸ç ÀÌ ÁúȯÀº ½Å°æ°èÅë¿¡ ÁÖ·Î ÀÌ»óÀÌ ³ªÅ¸³­´Ù. ½º¹Ì½º-¸¶Á¦´Ï½º ÁõÈıº¿¡¼­ÀÇ °á½ÇÀº °á½ÇºÎÀ§¿¡ Á¸ÀçÇÏ´Â ¹Ýº¹¼­¿­µéÀÇ ÀçÁ¶ÇÕ¿¡ ÀÇÇØ À¯¹ßµÇ´Â °ÍÀ̶ó°í ¾Ë·ÁÁ® ÀÖ´Ù. ½º¹Ì½º-¸¶Á¦´Ï½º ÁõÈıºÀÇ ¿ÏÄ¡¹ýÀº ÇöÀç±îÁö ¾Ë·ÁÁ® ÀÖÁö ¾Ê´Ù. ´Ù¸¸ ¿©·¯ ¾à¹°À» ÀÌ¿ëÇÑ Ä¡·á¹ýÀÌ ½ÇàµÇ¾îÁ® ¿Ô´Ù. Thoridazine´Â ¾î¶² °æ¿ì¿¡ °ú´ÙÇÑ ÁøÁ¤È¿°ú¸¦ º¸ÀÌ°í, carbamazepineµµ ¾î´À Á¤µµ È¿°ú°¡ ÀÖ´Ù°í ÇÑ´Ù. ±×·¯³ª ´ëºÎºÐÀÇ ¾à¹°ÀÌ ÀϽÀûÀÎ Ä¡·áÈ¿°úÀÏ »ÓÀÌ¸ç ºÎÀÛ¿ë ¶ÇÇÑ Á¸ÀçÇÑ´Ù. ±³À°ÀûÀÎ ¹æ¹ýÀ¸·Î´Â ¾ð¾îÀå¾Ö¿¡ ´ëÇÏ¿© »çÀÎ ¾ð¾î(sign language)ÀÇ »ç¿ëÀÌ È¯ÀÚÀÇ ¾ð¾î¹ß´Þ¿¡ µµ¿òÀ» Áشٰí ÇÑ´Ù.

84. Life Activities
    Smith Magenis syndrome a behavioural phenotype Thursday, February 06, 2003, Thesignificance of Smith Magenis syndrome is far reaching despite its rarity.  
    http://www.lifeactivities.org.au/other_event_details.asp?eventID=179

85. Katalog - Wirtualna Polska
    Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce.  
    http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Smith

86. Babies, Toddlers And The Media. (Dossier...
    Medicine Child Neurology. Article, Abilities and attainment in SmithMagenissyndrome. Identification, Dec., No 12 43 2001 Pages 823-28.  
    http://www.cidg.com/~marienf/k/i/n/m018815.htm

87. Clinical Study: 01-HG-0109, Natural History Study Of The Clinical And Molecular
    Title Natural History Study of the Clinical and Molecular Manifestations of SmithMagenisSyndrome Number 01-HG-0109 Summary This study will examine how a  
    http://clinicalstudies.info.nih.gov/detail/A_2001-HG-0109.html
    
    Extractions: Protocol Number: 01-HG-0109 Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome 01-HG-0109 This study will examine how a rare disease called Smith-Magenis syndrome (SMS) affects people and how they change over time. SMS is caused by a small chromosome 17p11.2 deletion (missing piece). The syndrome is associated with distinct physical, developmental and behavioral characteristics, but it is not fully understood. To learn more about this disease, a multidisciplinary research team will study: - The range and type of medical, behavioral, and learning problems of people with SMS - The deletion of chromosome 17p11.2 to find the gene or genes that cause SMS - Whether certain specific genetic changes cause certain specific medical problems - What signs and symptoms must be present to make a diagnosis of SMS - The impact that a child with SMS has on his or her family members. Patients of all ages with SMS may be eligible for this study. They will be evaluated by a team of medical specialists at the NIH Clinical Center over the course of several days. Parents of patients will be asked to provide copies of past medical records and tests results for review. They will provide a family medical history and information on the child's prenatal, developmental, behavioral and medical histories. Parents may also be asked to enroll their child in a SMS Research Registry and provide tissue samples for a SMS Research Core Tissue Bank. The research registry is a confidential database of individuals diagnosed with SMS. Its purpose is to facilitate SMS research initiatives and promote the development of improved treatments for SMS. Enrollment requires completing a 30-minute questionnaire. The tissue bank stores tissue cultures and cell lines created for future SMS research. About 2 teaspoons of blood are drawn from adult patients and 1 to 3 teaspoons from children, depending on their size. Tissue samples can be obtained by skin biopsy or during a scheduled surgical procedure.

88. WebGuest - Open Directory Health Conditions And Diseases
    Top Health Conditions and Diseases Genetic Disorders SmithMagenisSyndrome (4). See also Health Conditions and Diseases Rare  
    http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

89. HGNC Virtual Gene Nomenclature Workshop: Chromosome 17
    pseudogene, 16/05/1995. KERSMCR, cytokeratin, Smith Magenis syndromechromosome region, 17p11.2, 10615134, 27168, 20/01/2000. KRT14L1, keratin14  
    http://www.gene.ucl.ac.uk/nomenclature/workshop/chrom17.htm
    
    Extractions: Please email the Nomenclature Editor Connie Talbot for further information, or to offer your help with these genes. Link Back to The Virtual Gene Nomenclature Workshop Approved Symbol Gene Name Chromosomal Location PubMed ID LocusLink ID Locus Type Date Approved ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide-like 2 B-cell CLL/lymphoma 5 eukaryotic translation initiation factor 5A pseudogene 2 pseudogene fragile site, distamycin A type, rare, fra(17)(p12) fragile site, aphidicolin type, common, fra(17)(q23.1) ferritin, heavy polypeptide-like 14 glucose-6-phosphate dehydrogenase-like guanylate cyclase 2E hydroxysteroid (17-beta) dehydrogenase pseudogene 1 pseudogene HTLVR human T-cell leukemia virus (I and II) receptor hepatitis B virus integration site 8 interleukin 6 signal transducer (gp130, oncostatin M receptor) pseudogene pseudogene KERSMCR cytokeratin, Smith Magenis syndrome chromosome region

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