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

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: This mouse model should enable the identification of genes responsible for mental retardation.

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

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: 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 Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse 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

National Human Genome Research Institute (NHGRI) 1st National Conference on Smith-Magenis Syndrome (SMS) Agenda Friday, March 14 8:00 a.m. Registration 9:00 a.m. Welcome and Introduction Margaret Miller, President of PRISMS 9:20 a.m. Historical Overview of SMS and Implications for Future Ann C.M. Smith, M.A. 10:00 a.m. Frank Greenberg, M.D. 11:15 a.m. Cytogenetics and SMS: Deletion of 17p11.2 Ellen Magenis, M.D., and Pragna Patel, Ph.D. 1:30 p.m. On the Homefront - Parents Panel Mrs. Connie Semmelroth, mother of a 16-year old daughter with SMS; Mr. and Mrs. McComb, parents of a 6-year old daughter with SMS; Mr. and Mrs. Grantland, parents of a 33-year old daughter with SMS Three SMS families share their personal stories about what the diagnosis has meant for them as parents and for their families. 2:45 p.m. Concurrent Workshops, Session I (A, B, C) (See Workshops Tab for description) In the Classroom: Educational Strategies to Consider Barbara Haas-Givler, M.Ed., and Brenda Finucane, M.S.

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

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH Author Keyword(s) Vol Page [Advanced] This Article Full Text (Rapid PDF) All Versions of this Article: jmg.2005.031211v1 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 Original articles RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions Santhosh Girirajan Louis J Elsas, II Koenraad HMT Devriendt and Sarah H Elsea Virginia Commonwealth University, United States University of Miami, United States Center for Human Genetics, Belgium

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

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) 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 ) The face of Smith-Magenis syndrome: a subjective and objective study 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 Correspondence to: Dr Allanson.

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

(li nks to websites on genetic syndromes and other medical conditions that may cause mental retardation Syndrome de Allan / Syndrome de Allan-Herndon (Allan Herndon syndrome) Argininémie (Argininamia) Galactosémie Galactosemia Hydrocéphalie et Spina Bifida hydrocephalus and Spina Bifida Lissencephalie (lissencephaly) Neurofibromatose neurofibromatosis Paralysie Cérébrale Cerebral palsy Phénylcétonurie phenylketonuria Sclérose tubéreuse de Bourneville tuberous sclerosis Trisomies 13, 18 et 21 trisomy 13, 18, 21 Syndrome du bébé secoué (Shaken baby syndrome) Syndrome Alcolo-foetal Foetal alcohol syndrome Syndrome d'Angelman Angelman syndrome ... Syndrome "Cat-Eye" (Cat-eye syndrome) Syndrome Cornelia De Lange (Cornelia de Lange syndrome) Syndrome du Cri du Chat (Cri du chat syndrome) Syndrome de Klinefelter (Klinefelter syndrome) Syndrome Landau-Kleffner (Landau-Kleffner syndrome) Syndrome Langer-Giedion (Langer-Giedion syndrome) Syndrome de Prader-Willi (Prader-Willi Syndrome) Syndrome Smith-Magenis (Smith-Magenis syndrome) ... Syndrome Sturge-Weber (Sturge-Weber syndrome) Syndrome de Turner (Turner syndrome) Syndrome Triplo-X (Triplo-X syndrome) Syndrome de Rett (Rett syndrome) Syndrome Vélocardiofacial /Syndrome de DiGeorge (velocardiofacial syndrome) Syndrome de Williams (Williams syndrome) Syndrome du X-fragile (Fragile X syndrome) ... Génétique (Genetics) Autisme (autism) Syndrome d'Allan-Herndon (Allan-Herndon syndrome)

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

A SECOND CASE WITH SMITH-MAGENIS SYNDROME TREATED PRIMARILY WITH ANTISTRESS DRUG THERAPY LASTING FIVE MONTHS Renato COCCHI, neurologist and medical psychologist Testo in iitaliano 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

DRUG THERAPY IN A GIRL AGED TEN WITH SMITH-MAGENIS SYNDROME (updated on June 2005) By Renato COCCHI , neurologist and medical psychologist (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

Accès à la base de données Orphanet Smith-Magenis, syndrome de Accès direct aux détails Résumé Texte(s) long(s) http://www.orpha.net/data/patho/FR/fr-SMS.pdf Signes de la maladie ANOMALIE OREILLE(FORME/STRUCTURE) BRACHYCEPHALIE/OCCIPUT PLAT COINS DE LA BOUCHE TOMBANTS DELETION CHROMOSOMIQUE SUB-MICROSCOPIQUE DENTS ERUPTION TARDIVE FACE ETAGE MOYEN ENFONCE FACE LARGE FENTE PALPEBRALE MONGOLOIDE INSENSIBILITE DOULEUR/TROUBLES SENSITIFS MAINS COURTES/BRACHYDACTYLIE MAINS GRANDES / LARGES OREILLES BAS IMPLANTEES PHONATION ANOMALIE / CRI FAIBLE OU AIGU RACINE DU NEZ LARGE RETARD MENTAL / PSYCHO-MOTEUR TROUBLES DU COMPORTEMENT TROUBLES DU LANGAGE ANOMALIE DE L'AUDITION/SURDITE ANTHELIX PROEMINENT AREFLEXIE / HYPOREFLEXIE CLINODACTYLIE DU 5EME DOIGT CONVULSIONS EPILEPSIE DENTS MAL IMPLANTEES FRONT BOMBE/BOSSES FRONTALES HYPOTONIE OREILLES DECOLLEES/PROEMINENTES PETITE TAILLE / NANISME PHILTRUM COURT POMMETTES PLATES/MALAIRE HYPOPLASIE PROGNATHISME SCOLIOSE SURDITE DE TRANSMISSION/CONDUCTION ANOMALIE APPAREIL GENITAL CARDIOPATHIE CONGENITALE EPICANTHUS FENTE PALATINE MICROCEPHALIE NEPHROPATHIE PIED CREUX PLI PALMAIRE TRANSVERSE SYNDACTYLIE DES ORTEILS Mise à jour : 04/09/2005 Accès à la base de données Orphanet

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

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Smith Magenis Syndrome Important It is possible that the main title of the report Smith Magenis Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms SMCR SMS chromosome 17, interstitial deletion 17p Smith-Magenis chromosome region Disorder Subdivisions None General Discussion Smith-Magenis syndrome is characterized by particular facial features, developmental delays, mental retardation and behavioral abnormalities. 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. Developmental delays and intelligence are variable but most affected individuals have mild to moderate mental retardation. Behavioral abnormalities include sleep disturbances, repetitive movements (stereotypies) and a tendency to inflict harm on oneself.

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

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Smith Magenis Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Smith Magenis Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Chromosome 17, Interstitial Deletion 17p SMCR Smith-Magenis Chromosome Region SMS Disorder Subdivisions None General Discussion Resources Chromosome Deletion Outreach, Inc. P.O. Box 724 Boca Raton, FL 33429-0724 USA Tel: 8882366880 Internet: http://www.chromodisorder.org PO Box 741914 Dallas, TX 75374-1914 USA Tel: 9722310035 Fax: 4138266539 Email: info@prisms.org Internet: http://www.prisms.org American Society for Deaf Children PO Box 1510 Olney, MD 20830-1510 Tel: (916)641-6084 Fax: (916)641-6085 Tel: (800)942-2732 TDD: (916)641-6084 Email: ASDC1@aol.com

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

Welcome to our blog...We are a small team of health policy researchers conducting a study on the experiences of living with genetic diseases. More details about who we are , the study , and our methods are included in our blog. Enjoy! Main July 12, 2005 Smith Magenis Syndrome Some Special People Here are a bunch of biographies about people with the disorder. None are in first person. TrackBack Comments Post a comment Name: Email Address: URL: Remember personal info? Yes No Comments:

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

Prev Term: Smith Lemli Opitz syndrome Next Term: Smith-Opitz-Inborn syndrome Smith Magenis syndrome Broader Terms: chromosome disorder Broader Terms: congenital oral /facial /cranial defect Broader Terms: mental retardation Broader Terms: syndrome Scope Note: a rare chromosomal disorder characterized by abnormalities of the craniofacial area (brachycephaly, prognathism, cleft palate), delays in the acquisition of skills requiring the coordination of mental and muscular activities, mental retardation; most affected individuals experience speech delays that may occur in association with hearing impairment; behavioral abnormalities may include hyperactivity and self-destructive behavior. Term Number: Send your comments to: Melody Lowe

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-96 of 96    Back | 1  | 2  | 3  | 4  | 5