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

HOME HELP FEEDBACK SUBSCRIPTIONS ... COLLECTIONS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: PDF Version of this Article Email this article to a friend eLetters: Submit a response to this article Similar articles found in: eCMAJ PubMed PubMed Citation - Citation PubMed Search Medline for articles by - Chercher dans Medline des articles de: Prasad, C. Alert me when - Veuillez m'avertir si: new articles cite this article - de nouveaux articles citent cet article Download to Citation Manager Collections under which this article appears Eating disorders Radiological diagnosis Canadian Medical Association or its licensors Letters Correspondance Smith-Magenis syndrome 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

Smith-Magenis Syndrome Reviews Related Subjects: More Pages: Smith-Magenis Syndrome Page 1 Book reviews for "Smith-Magenis Syndrome" sorted by average review score: Management of Genetic Syndromes Published in Hardcover by Wiley-Liss (15 January, 2001) Authors: Suzanne B. Cassidy and Judith E. Allanson Amazon base price: Used price: 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

Match » -All words -Any word -Exact text Search » The Web Jobs / Vacancy Images / Photos FTP / Downloads United Kingdom United States of America Argentina Austria Australia Bangladesh Belgium Bolivia Brazil Bulgaria Canada Chile China Cuba Cyprus Czech Republic Czechoslovakia Denmark Dominican Republic Ecuador Egypt Estonia Finland France Germany Ghana Greece Hong Kong Hungary Iceland India Indonesia Ireland Israel Italy Japan Jordan Kenya Kuwait Latvia Lithuania Luxembourg Malaysia Malta Mexico Moldavia Monaco Morocco Mozambique Nepal Netherlands New Zealand Nicaragua Nigeria North Korea Norway Pakistan Panama Paraguay Peru Philippines Poland Portugal Qatar Romania Russian Federation Saudi Arabia Singapore South Africa South Korea Spain Sri Lanka Sweden Switzerland Taiwan Tanzania Thailand Tunisia Turkey Ukraine United Arab Emirates Uruguay Venezuela Yemen Yugoslavia Zambia Zimbabwe Ranking » On (no duplicate) Off (allow duplicate) Add my Site Toolbar Affiliates Directory Topic Smith-Magenis Syndrome assoicated to Health Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Smith-Magenis Syndrome ( See Also: Health: Conditions and Diseases: Rare Disorders The CaF Directory - A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom.

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-

Smith-Magenis Syndrome Directory: Guide to Smith-Magenis Syndrome sites on the internet. Search Engines: Google Yahoo MSN FindWhat ... City Guides Smith-Magenis Syndrome Health Conditions and Diseases Genetic Disorders Smith-Magenis Syndrome Websites The CaF Directory http://www.cafamily.org.uk/direct/s33.html A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom. PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) http://www.smithmagenis.org 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. Baylor College of Medicine http://www.bcm.tmc.edu/neurol/research/genes/genes10.html A definition of Smith-Magenis syndrome, the symptoms, incidence and currant research efforts. NORD: Smith Magenis Syndrome http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=smith%20lemli%20opitz%20syndrome Offers the synonyms, a general discussion and further resources.

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

Human protein: Q8TEV9 - Smith-Magenis syndrome chromosome region candidate 8 protein. EMBL FORUM Length: 787 aa , molecular weight: 87755 Da , CRC64 checksum: 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., Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of mouse. Submitted JAN-2002 to the EMBL GenBank DDBJ databases Position SEQUENCE FROM N.A.

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

Human protein: Q96C03 - Hypothetical protein (Smith-Magenis syndrome chromosome region candidate 7 protein). EMBL 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 // UniProt ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created TrEMBLrel. 19, 1-DEC-2001 Sequence update TrEMBLrel. 19, 1-DEC-2001 Annotation update TrEMBLrel. 22, 1-OCT-2002

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

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

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

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. 11:00 a.m. BREAK 11:15 a.m. Cytogenetics and SMS: Deletion of 17p11.2 Ellen Magenis, M.D., and Pragna Patel, Ph.D. 12:00 p.m. LUNCH 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) A. In the Classroom: Educational Strategies to Consider Barbara Haas-Givler, M.Ed., and Brenda Finucane, M.S.

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-

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. NodeWorks boosts web surfing!

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

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 : 01/06/2004 Accès à la base de données Orphanet

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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