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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. Surgery Door - Support Groups
    The smithmagenis syndrome Foundation. Web www.smith-magenis.co.uk. The SMS Foundation is a Registered Charity and its goals are as follows-  
    http://www.surgerydoor.co.uk/sg/detail.asp?Recno=26740794

82. Development Of Murine Models For Smith-Magenis Syndrome - MRDDRC Projects
    smithmagenis syndrome (SMS) is a CGS associated with a deletion in chromosome 17 of band p11.2. At a frequency of at least 125000 live births SMS  
    http://mrrc.pedi.bcm.tmc.edu/projects/sms-murinemodels.html
    
    Extractions: Development of murine models for Smith-Magenis syndrome ) or duplication ( ) of the syntenic region on mouse chromosome 11 that spans the genomic interval commonly deleted in SMS patients. /+ mice present craniofacial abnormalities (100%), seizures (20%), marked obesity, reduced fertility, and diminished T4 plasma levels (20%). In contradistinction, /+ animals are underweight and display a milder phenotype, but have significant behavioral abnormalities. Examination of animals suggest most of the observed phenotypes result from gene dosage effects. Our murine models represent a powerful tool to analyze the consequences of gene dosage imbalance in this genomic interval and investigate the molecular genetic basis of both SMS and dup(17)(p11.2p11.2). As part of this program project we seek to identify the specific genes responsible for the phenotypic features in our partial models of these two human syndromes and characterize the effects of heterozygous and homozygous alleles of these genes. These analyses will contribute to the understanding of gene dosage effects responsible for human disease and have potent implications for human development and biology. Relevance of the project to MRDDRC Mission:

83. Genes In A Refined Smith-Magenis Syndrome Critical Deletion Interval On Chromoso
    smithmagenis syndrome (SMS) is a multiple congenital anomaly/mental Behavioral characterization of mouse models for smith-magenis syndrome and  
    http://www.genome.org/cgi/content/abstract/12/5/713
    
    Extractions: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Bi, W. Articles by Lupski, J. R. Vol. 12, Issue 5, 713-728, May 2002 Weimin Bi, Jiong Yan, Pawe Stankiewicz, Sung-Sup Park, Katherina Walz, Cornelius F. Boerkoel, Lorraine Potocki, Lisa G. Shaffer, Koen Devriendt, Ma gorzata J.M. Nowaczyk, Ken Inoue, and James R. Lupski Departments of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas 77030, USA; Centre for Human Genetics, University Hospital Gasthuisberg, Catholic University of Leuven, B-3000 Leuven, Belgium; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario L8S 4J9, Canada

84. 1st National Conference On Smith-Magenis Syndrome (SMS) - Office Of Rare Disease
    Workshop on the 1st National Conference on smithmagenis syndrome (SMS) co-sponsored by the Office of Rare Diseases at NIH.  
    http://rarediseases.info.nih.gov/html/workshops/workshops/smith970314.html

85. RAI1 Variations In Smith-Magenis Syndrome Patients Without 17p11.2 Deletions --
    Introduction smithmagenis syndrome (SMS) (OMIM 182290) is a mental retardation Keywords 17p11.2, RAI1, smith-magenis syndrome, haploinsufficiency,  
    http://jmg.bmjjournals.com/cgi/content/abstract/jmg.2005.031211v2
    
    Extractions: jmg.2005.031211v2 most recent Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Girirajan, S. Articles by Elsea, S. H Santhosh Girirajan Louis J Elsas, II Koenraad HMT Devriendt and Sarah H Elsea Virginia Commonwealth University, United States

86. The Face Of Smith-Magenis Syndrome: A Subjective And Objective Study -- Allanson
    We report a study of 55 subjects with smithmagenis syndrome, aged 9 months to 35 years. Keywords smith-magenis syndrome; facial measurements  
    http://jmg.bmjjournals.com/cgi/content/abstract/36/5/394
    
    Extractions: Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Allanson, J. E Articles by Smith, A. C M Related Collections Genetics J Med Genet 394-397 ( May ) Judith E Allanson a Frank Greenberg b , (deceased) Ann C M Smith b c a Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON K1H 8L1, Canada, b Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA, c Georgetown University Medical Center, Washington DC, USA

87. Liens En Déficience Intellectuelle
    smith-magenis syndrome smith-magenis syndrome Research (Bayer College of Medicine)  
    http://www.er.uqam.ca/nobel/d341460/liens.htm

88. Smith-Magenis Syndrome
    smithmagenis syndrome. Chitra Prasad. Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ont.  
    http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=191273

89. A SECOND CASE WITH SMITH-MAGENIS SYNDROME TREATED PRIMARILY WITH ANTISTRESS DRUG
    A second case of smithmagenis syndrome in a girl of a few more than eight The severity of a smith-magenis syndrome depends on the amount of missing  
    http://www.stress-cocchi.net/Genetics8.htm
    
    Extractions: Summary. A 8;2-years girl with microdeletion of the chromosome 17 ( p11.2 ) had drug antistress therapy. The chromosomal anomaly with facial characteristics not particularly evident, mental retardation, behavioural troubles, hyperactivity, autistic traits and language problems drew to the diagnosis of the Smith-Magenis syndrome. Following a modulation trial by drugs of body reactions to stress, lasting five months, she showed language improvement, reduction to respiratory infections easiness, better behaviour at school and improved learning, and reduced the sameness. Symptoms linked to serotonin and noradrenaline got worse according perhaps to the seasonal change and precocious summer heat, for which after early improvements they came back to the state preceding the antistress drug therapy. The modulation of stress answers, even lasting only five months, and with low doses of drugs, appears a practicable way to reduce the phenotypical expressions of this chromosomal anomaly too. Key words: chromosomal anomaly, del17(11.p2), syndrome of Smith-Magenis, girl, stress, antistress drug therapy.

90. DRUG THERAPY IN A GIRL AGED TEN WITH SMITH-MAGENIS SYNDROME (updated On January
    Key words Stress; smithmagenis syndrome; girl; drug therapy. As for drug therapy, I found only one report in smith-magenis syndrome and it seems to me  
    http://www.stress-cocchi.net/Genetic4.htm
    
    Extractions: (Italian translation) Abstract. A girl aged 10 with microdeletion of the chromosome 17 (p11.1-p11p2) and singular features underwent drug therapy after the failure of psychological approaches lasted years. The chromosomal disorder with unusual facial features, syndactily, mental retardation, behaviour abnormalities and speech problems drove to the diagnosis of Smith-Magenis syndrome. No other relevant body anomalies were found except wider ventricles, wider subarachnoidal spaces, but normal brain structure, revealed by ultrasound scan. Besides academic difficulties and disturbed social behaviour, other evident symptoms were present. They were strong opposition, a lower threshold to frustration with irritability, aggression or self-injuring behaviour, use of derogating and dirty words, and negative thinking. The drug therapy lasting 59 months showed many improvements already seen by the girl's teachers and psychotherapists. Key words: Stress Smith-Magenis syndrome; girl; drug therapy.

91. The Neuropsychiatry And Multisystem Features Of The Smith-Magenis
    smithmagenis syndrome (SMS) is a complex neuropediatric-neurobehavioral smith-magenis syndrome is a distinctly characterized genetically driven  
    http://neuro.psychiatryonline.org/cgi/content/full/17/1/91

92. Smith-Magenis, Syndrome De
    Translate this page Base de données sur les maladies rares et les médicaments orphelins.  
    http://www.orpha.net/static/FR/smithmagenis.html

93. Smith Magenis Syndrome
    Smith Magenis syndrome is a rare chromosomal disorder characterized by abnormalities of the head and  
    http://webcenter.health.webmd.netscape.com/hw/raising_a_family/nord976.asp
    
    Extractions: The facial features include a broad square-shaped face, an abnormally short, broad head (brachycephaly); an abnormally broad, flat midface; a broad nasal bridge; an unusually prominent jaw (prognathism); eyebrows growing across the base of the nose (synophrys); a short full tipped nose and fleshy upper lip with a tented appearance.

94. Smith Magenis Syndrome Synonyms, Eastern Carolina
    Smith Magenis syndrome Synonyms University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county,  
    http://www.uhseast.com/114269.cfm

95. Center Img Alt= Logo4.JPG Src= Http//strange.mcmaster.ca
    Smith Magenis syndrome. Some Special People Here are a bunch of biographies about people with the disorder. None are in first person.  
    http://strange.mcmaster.ca/~grockwel/weblog/fteam/000987.html

96. Smith Magenis Syndrome
    Prev Term Smith Lemli Opitz syndrome Next Term SmithOpitz-Inborn syndrome. Smith Magenis syndrome. Broader Terms. chromosome disorder  
    http://crisp.cit.nih.gov/Thesaurus/00020362.htm

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