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

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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

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

½º¹Ì½º-¸¶Á¦´Ï½º ÁõÈıº(smith-magenis syndrome) 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 Áø´ÜÀº ¼¼Æ÷À¯ÀüÇÐÀû ¹æ¹ýÀ¸·Î ÇÙÇüºÐ¼®À» ÅëÇÏ¿© 17¹ø ¿°»ö¼ÀÇ °á½ÇÀ» È®ÀÎÇÒ ¼ö ÀÖÀ¸¸ç, DNA marker¸¦ ÀÌ¿ëÇÏ¿© °á½ÇÀ» È®ÀÎÇÒ ¼öµµ 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

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Conditions and Diseases > Genetic Disorders Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

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

# Article : A0033320 Cote/Call Number Auteur/Author Titre/Title Zero to three Article Babies, Toddlers and the media. (Dossier) Identification Oct/Nov, No 2 22 2001 Pages: 4-41 Descripteurs/Descriptors Nourrisson Petite enfance Impact psychosocial Demande par courrier Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

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

Protocol Number: 01-HG-0109 Title: Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome Number: 01-HG-0109 Summary: 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

Virtual Gene Nomenclature Workshop Chromosome Seventeen There were 62 genes without sequence on this chromosome, there are now 53. 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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