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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

61. ECMAJ -- Prasad 169 (6): 543
    Letters Correspondance. smithmagenis syndrome. The authors might want to investigate for smith-magenis syndrome if this has not previously been considered.  
    http://www.cmaj.ca/cgi/content/full/169/6/543-a
    
    Extractions: Canadian Medical Association or its licensors Chitra Prasad Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ont. Waleed Al Busairi and Fawzi Ali describe a 15-year-old boy with mental retardation and a history of putting inedible objects into his mouth. The authors might want to investigate for Smith-Magenis syndrome if this has not previously been considered. Smith-Magenis syndrome is associated with mental retardation

62. »»Reviews For Smith-Magenis Syndrome««
    smithmagenis syndrome Reviews. Related Subjects Genetic_Disorders More Pages smith-magenis syndrome Page 1 2. Search site for a Book Review.  
    http://www.booksunderreview.com/Health/Conditions_and_Diseases/Genetic_Disorders
    
    Extractions: Buy one from zShops for: Average review score: Excellent Educational Text "...a detailed practical guide for management of patients with genetic conditions...an asset to the bookshelf of any healthcare provider...also an excellent educational text..." (Journal of Genetic Counseling, Vol. 12, No. 4, August 2003) Useful Book "...quite useful to anyone...interested in a taste of what emerging technologies in genomics, proteomics, and bioinformatics can bring to bear on questions of potential importance in biomedical research." (American Journal of Human Genetics, Vol. 72, 2003) "a wealth of practical information" Cassidy and Allanson have assembled a talented group of authors to address the more common genetic disorders. The chapters are extremely well organized and each emphasizes not only diagnostic techniques and differential diagnosis, but also patient management. The generalist will find a wealth of practical information readily available and accessible. The clinical geneticist will discover and rediscover valuable "pearls" within this text. Edward R.B. McCabe, Department of Pediatrics, Mattel Children's Hospital at UCLA Hereditary Hearing Loss and Its Syndromes (Oxford Monographs on Medical Genetics, No 28)

63. Smith-Magenis Syndrome From Linkspider UK Health Directory
    Directory Topic smithmagenis syndrome assoicated to Health. Directory Tree Top Health Conditions and Diseases Genetic Disorders smith-magenis syndrome ().  
    http://linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Smith-Mage
    
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64. Smith-Magenis Syndrome
    PRISMS (Parents and Researchers Interested in smithmagenis syndrome) http//www.smithmagenis.org Details about the international support group organization  
    http://www.directory.net/Health/Conditions_and_Diseases/Genetic_Disorders/Smith-

65. OMIM - SMITH-MAGENIS SYNDROME; SMS
    http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182290

66. Entrez PubMed
    Multidisciplinary clinical study of smith-magenis syndrome (deletion 17p11.2) Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA  
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=8

67. Human Protein: Q8TEV9 - Smith-Magenis Syndrome Chromosome Region Candidate 8 Pro
    , smith-magenis syndrome chromosome region candidate 8 protein.Human protein Q8TEV9 smith-magenis syndrome chromosome region candidate 8 protein.  
    http://harvester.embl.de/harvester/Q8TE/Q8TEV9.htm
    
    Extractions: UniProt ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created TrEMBLrel. 21, 1-JUN-2002 Sequence update TrEMBLrel. 21, 1-JUN-2002 Annotation update TrEMBLrel. 22, 1-OCT-2002 Description and origin of the Protein Description Smith-Magenis syndrome chromosome region candidate 8 protein. Gene name(s) Organism source Homo sapiens (Human). Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. NCBI TaxID References Bi,W., Yan,J., Stankiewicz,P., Park,S.-S., Walz,K., Boerkoel,C.F., Potocki,L., Shaffer,L.G., Devriendt,K., Nowaczyk,M.M. Jr., Inoue,K., Lupski,J.R.,

68. Human Protein: Q96C03 - Hypothetical Protein (Smith-Magenis Syndrome Chromosome
    Human protein Q96C03 Hypothetical protein (smith-magenis syndrome chromosome region candidate 7 protein). EMBL. FORUM. Length 454  
    http://harvester.embl.de/harvester/Q96C/Q96C03.htm
    
    Extractions: FORUM Length: 454 aa , molecular weight: 49268 Da , CRC64 checksum: MAEFSQKRGK RRSDEGLGSM VDFLLANARL VLGVGGAAVL GIATLAVKRF IDRATSPRDE 60 DDTKADSWKE LSLLKATPHL QPRPPPAALS QPVLPLAPSS SAPEGPAETD PEVTPQLSSP 120 APLCLTLQER LLAFERDRVT IPAAQVALAK QLAGDIALEL QAYFRSKFPE LPFGAFVPGG 180 PLYDGLQAGA ADHVRLLVPL VLEPGLWSLV PGVDTVARDP RCWAVRRTQL EFCPRGSSPW 240 DRFLVGGYLS SRVLLELLRK ALAASVNWPA IGSLLGCLIR PSMASEELLL EVQHERLELT 300 VAVLVAVPGV DADDRLLLAW PLEGLAGNLW LQDLYPVEAA RLRALDDHDA GTRRRLLLLL 360 CAVCRGCSAL GQLGRGHLTQ VVLRLGEDNV DWTEEALGER FLQALELLIG SLEQASLPCH 420 FNPSVNLFSS LREEEIDDIG YALYSGLQEP EGLL 454 //

69. 369: Smith-Magenis Syndrome: A Genomic Disorder With A Common Molecular Mechanis
    Program Nr 369 smithmagenis syndrome A genomic disorder with a common molecular mechanism and variable clinical phenotype. L. Potocki  
    http://www.faseb.org/genetics/ashg99/f369.htm
    
    Extractions: Program Nr: 369 Smith-Magenis syndrome: A genomic disorder with a common molecular mechanism and variable clinical phenotype. L. Potocki , K.-S. Chen , D.E. Osterholm , L.G. Shaffer , J.R. Lupski 1) Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; 2) Pediatrics, Baylor College of Medicine, Houston, TX; 3) Texas Children's Hospital, Houston.

70. 2259: Molecular Screening For Smith-Magenis Syndrome Among A Large Population Of
    Program Nr 2259 Molecular Screening for smithmagenis syndrome Among a Large Population of Patients with MR. JL Struthers, S. Taylor, K. Harrison, MM Khalifa.  
    http://www.faseb.org/genetics/ashg99/f2259.htm
    
    Extractions: Program Nr: 2259 Molecular Screening for Smith-Magenis Syndrome Among a Large Population of Patients with MR. J.L. Struthers, S. Taylor, K. Harrison, M.M. Khalifa. Department of Pathology and Pediatrics, Queen's University, Kingston, Ontario, Canada. Smith-Magenis syndrome (SMS) is a MCA/MR syndrome caused by a microdeletion of chromosome 17p11.2. Clinical findings in SMS patients include facial anomalies, speech delay, behavioral problems and peripheral neuropathy. The incidence of SMS is estimated to be 1 in 25 000, however, it may be significantly underdiagnosed due its recent description and phenotypic variability. To date, over 600 samples have been screened. Repeat testing has been performed in 14 cases; 9 exhibit persistence of the dosage difference. In 2 cases the dosage difference has been explained by a diagnosis of Klinfelter's syndrome. Conformation of SMS in the remaining cases is underway. This will be the largest study to identify SMS in patients with MR. The results will provide important insight into the phenotypic variability and frequency of this disease among individuals with undiagnosed MR.

71. 1st National Conference On The Smith-Magenis Syndrome March 14-15, 1997 Washingt
    1st National Conference on the smithmagenis syndrome March 14-15, 1997 Washington, DC.  
    http://www.nhgri.nih.gov/Pages/Hyperion/DIR/MGB/SMS97/

72. Genetic Link To Smith-Magenis Syndrome Found-WISN-TV Health Center
    Genetic Link to smithmagenis syndrome Found. March 31, 2003 1033 AM. (HealthScoutNews) The gene that s responsible for the developmental  
    http://wisn-tvhealth.ip2m.com/index.cfm?PageType=itemDetail&Item_ID=95101&Site_C

73. 1st National Conference On Smith-Magenis Syndrome (SMS) - Office Of Rare Disease
    1st National Conference on smithmagenis syndrome (SMS) March 14 – 15, 1997 • Bethesda, MD. The prevalence of smith-magenis syndrome is 1 in 25,000 births.  
    http://rarediseases.info.nih.gov/html/workshops/workshops/smith970314.html

74. Health Library -
    program offering support, advocacy and education for families affected by smithmagenis syndrome. 8384 FAX 603-547-3043 E-MAIL info@smithmagenis.org WEBSITE  
    http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc

75. NodeWorks - Genetic Disorders: Smith-Magenis Syndrome
    Top Health Conditions Diseases Genetic Disorders smithmagenis syndrome ( 4 ). smith-magenis syndrome is a rare chromosomal  
    http://dir.nodeworks.com/Health/Conditions_and_Diseases/Genetic_Disorders/Smith-
    
    Extractions: in entire NodeWorks Directory in Health in Genetic Disorders in ++ Smith-Magenis Syndrome Top Health Genetic Disorders Smith-Magenis Syndrome Smith-Magenis Syndrome is a rare chromosomal disorder characterized by abnormalities of the head and facial (craniofacial) area, delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation), mental retardation, speech delays, and/or behavioral abnormalities. Baylor College of Medicine A definition of Smith-Magenis syndrome, the symptoms, incidence and currant research efforts. NORD: Smith Magenis Syndrome Offers the synonyms, a general discussion and further resources. PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) Details about the international support group organization and its mission as well as the condition. Includes an introduction, diagnosis, parent's corner, meet other people with SMS and educational considerations. The CaF Directory A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom.

76. Genes In A Refined Smith-Magenis Syndrome Critical Deletion Interval On Chromoso
    713 728 DOI 10.1101/gr.73702 Genes in a Refined smithmagenis syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse.  
    http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=186594

77. Structure And Evolution Of The Smith-Magenis Syndrome Repeat Gene Clusters, SMS-
    2002 May; 12 (5) 729 738 DOI 10.1101/gr.82802 Structure and Evolution of the smithmagenis syndrome Repeat Gene Clusters, SMS-REPs.  
    http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=186597

78. Dr. Koop-Genetic Link To Smith-Magenis Syndrome Found
    Genetic Link to smithmagenis syndrome Found. Here s where you can learn more about smith-magenis syndrome (www.specialchild.com). Robert Preidt.  
    http://www.drkoop.com/template.asp?page=newsdetail&ap=93&id=512389

79. ORPHANET® : Smith-Magenis, Syndrome De
    Translate this page ORPHANET. Accès à la base de données Orphanet. smith-magenis, syndrome de. Accès direct aux détails Résumé Le syndrome de Smith  
    http://www.orpha.net/static/FR/smithmagenis.html

80. Health Conditions And Diseases Genetic Disorders Smith-Magenis Syndrome
    of SmithMagenis syndrome, its inheritance pattern, prenatal diagnosis and a support group in the United Kingdom. NORD Smith Magenis syndrome Offers the  
    http://www.pastconnect.com/odp/directory/Health/Conditions_and_Diseases/Genetic_
    
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