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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

Elisabeth Dykens
Stress in families of young children with Down syndrome, Williams syndrome,and smithmagenis syndrome. Early Education and Development, 11, 395-406.
http://www.tarjancenter.ucla.edu/aboutus/facultyprofiles/e_dykens.htm

Extractions: At present, Dr. Dykens is Associate Professor at the Neuropsychiatric Institute, University of California, Los Angeles. In addition to her syndrome research, Dr. Dykens serves on the research and evaluation committee of Special Olympics International. She is on the scientific advisory boards of several national syndrome-specific organizations, and is a member of the Executive Committee of the Gatlinburg Conference on Research and Theory in Mental Retardation. She is a member-at-large for the American Psychological Association's Division 23 on Mental Retardation, and was recently nominated to the National Academies Research Council Committee on the Determination of Mental Retardation. Dr. Dykens is Associate Director of Research and Training at the Tarjan Center for Developmental Disabilities, and the Associate Director for Training and Education at the UCLA Mental Retardation Research Center (MRRC). Dr. Dykens also co-directs a behavioral clinic for persons with genetic syndromes and their families. Dykens' research identifies the neurobehavioral and developmental phenotypes of persons with genetic mental retardation syndromes, including Prader-Willi, Williams, Down, 5p-, fragile X, and Smith-Magenis syndromes. Some of Dykens work examines behavioral similarities and differences across syndromes, and these findings help refine the phenotype associated with each disorder. Yet most of Dykens research focuses on individual differences within syndromes, and addresses the question of why people with the same disorder vary in their phenotypic expression. Dykens is thus examining genetic, psychosocial and developmental sources of individual differences within syndromes.
Elisabeth Dykens
DJ, Hodapp, RM, Dykens, EM (2000) Stress in families of young children with Downsyndrome, Williams syndrome, and smithmagenis syndrome. Early Education
http://www.tarjancenter.ucla.edu/uap backup 9-29-2001/aboutus/facultyprofiles/e_

Extractions: edykens@mednet.ucla.edu Elisabeth M. Dykens, TCDD Associate Director, earned her Ph.D. in Clinical Psychology from the University of Kansas in 1985, and completed her pre- and post-doctoral fellowships at Yale University, Child Study Center, Department of Child Psychiatry. During this time, and later as an Assistant Professor at Yale, she developed her research interests in the behavioral phenotypes of persons with genetic syndromes, primarily fragile X syndrome. Over the last decade, Dr. Dykens has expanded her phenotypic research to include persons with Prader-Willi, Williams, Down, 5p-, and Smith-Magenis syndromes. Her work identifies syndrome-specific psychopathology and cognitive and adaptive profiles, and how these relate to genetic status and treatment. Currently, Dr. Dykens is the Project Director of the Lili Claire-UCLA Family Resource Center. About Dr. Dykens
Circadian Rhythm Hub
Circadian Rhythm Abnormalities of Melatonin in smithmagenis syndrome by LorrainePotocki, MD - second National conference on smith-magenis syndrome.
http://www.knowdeep.org/circadian/

Extractions: Clinical trials - Research projects - Laboratories - Full text articles - Overviews Modifying Effects of Histamine on Circadian Rhythms and Neuronal Excitability - by Leena Tuomisto Circadian Rhythm Abnormalities of Melatonin in Smith-Magenis Syndrome by Lorraine Potocki, M.D. - second National conference on Smith-Magenis Syndrome. Circadian Rhythm of Manual Dexterity - by Thomas J. Kosman, Department of Biology, Bethany College, West Virginia. Circadian Rhythm Laboratory - by Dr. Roberto Refinetti. Terms of Circadian Rhythm - full text article by Jennifer L. Lanier , Department of Animal Sciences, Colorado State University. Circadian Rhythm Group - by Dr. Ralf Stanewsky A study of light and its possible role in adaptation to temperature changes in Neurospora - by Robert L. Metzenberg, Stanford University - circadian rhythm in Neurospora. How is Circadian Rhythm of Hormones Controlled?
Colorado State University - Department Of Human Development And Family Studies
Stress and coping in families of children with smithmagenis syndrome.Journal of Intellectual Disability Research, 42, 331-340.
http://www.cahs.colostate.edu/hdfs/faculty/Fidler.htm
Newsletter Archive | Genetic Implications For Mental Retardation
retardation. For example, people with smithmagenis syndrome oftenseverely bite or pick at their fingernails and toenails. This
http://www.pbrookes.com/email/archive/may01/may01DD1.htm

Extractions: A: Mental retardation is a "symptom" for which there are numerous underlying causes, many of which are diagnosable genetic syndromes. Over the past decade, there has been increased recognition of specific behavioral and cognitive features associated with many of these syndromes. Research into syndrome-specific behaviors and learning styles provides a "customized" approach to meeting the needs of these individuals, rather than the general, "one size fits all" approaches that have previously been applied to mental retardation. For example, people with Smith-Magenis syndrome often severely bite or pick at their fingernails and toenails. This appears to be related to problems with nerve functioning in the hands and feet due to the deletion of part of chromosome 17. Such knowledge allows us to focus on the physiological causes of self-injurious behavior in Smith-Magenis syndrome, rather than simply trying to alleviate the behavior without understanding the reason for it.
Ara Sale
SMS Development Support AS, smithmagenis syndrome. Mississippi SMS,CardBoardFish. India Mobile. SMS Experience, About smith-magenis syndrome.
http://www.arasale.com/links/sms.htm
Pragna I. Patel, Ph.D.
smithmagenis syndrome (SMS) associated with a deletion of and p11.2 of chromosome17 is characterized by mental retardation, self-destructive behavior and
http://mft.bcm.tmc.edu/nsgb96/node45.html

Extractions: Ph.D., West Virginia University, 1982 Inherited human disorders: gene identification, regulation, diagnosis and therapy pragna@bcm.tmc.edu The central theme in my laboratory is understanding the genetic basis of inherited diseases particularly neurological disorders. The questions we address are:(i) What is the underlying gene(s) and the associated defect? (ii) How is the gene regulated in the normal and the diseased state? (iii) What are the diagnostic options? (iv) What are suitable DNA-based therapeutic options? Total deficiency of the enzyme hypoxanthine phosphoribosyltransferase (HPRT) involved in the metabolic salvage of purines causes Lesch-Nyhan syndrome (LNS) characterized by mental retardation, compulsive self-mutilative behavior and gouty arthritis. The hierarchy of regulatory elements and proteins specifying neuronal versus constitutive expression of the gene are being studied towards determining the pathophysiology and therapies of LNS. Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. The subtype CMT1A is associated with a novel mutation consisting of a DNA duplication of 1.5 million bp on chromosome 17. Overexpression of the gene for the peripheral myelin protein PMP22 appears to underlie the demyelinating neuropathy in most CMT1A patients. Towards developing therapeutic strategies for correction of the CMT1A phenotype based on adjustment of gene dosage levels, we are studying the regulation of the PMP22 gene and defining the critical elements required for expression in Schwann cells versus other cell types.
Smith-Magenis Syndrome
smithmagenis syndrome. What are the effects of SMS? How is it diagnosed? Sevenyear-old girl with smith-magenis syndrome. What is SMS?
http://www.angelfire.com/anime3/liz3132002/geneticdisorder.html

Extractions: Smith-Magenis Syndrome Click picture for legend and larger version Seven year-old girl with Smith-Magenis syndrome What is SMS? SMS is another word for Smith-Magenis Syndrome. It is a genetic disorder cause by the deletion of chromosome 17. This section is called 17p11.2. SMS is very rare, only occurring in 1 in 25,000 births. SMS is a genetic because the deletion occurs spontaneously during conception. Smith-Magenis Syndrome usually does not run in the family though. The reason this genetic disorder is called Smith-Magenis Syndrome is because Ann Smith and Dr. Ellen Magenis first described it. What are the effects of SMS? SMS causes a unique variety of symptoms. The most common are behavioral, sleep, eye, and hearing problems and mental retardation. Some of the behavioral problems include hyperactivity, head banging, explosive outbursts, and nervous actions. People with SMS also have hard trouble sleeping and/or staying asleep. Some other less common effects are short stature, short finger and toes, heart defects, urinary tract abnormalities, cleft lip, and hoarse voice. There are ways to test a baby for SMS before it is born. Most the time this is done for the parents who already have a child with SMS. How is it diagnosed?
IComm: File Not Found!
smithmagenis syndrome Contact Group 52 Ladeside Close Newton Mearns Glasgow, ScotlandG77-6TZ UK. smith-magenis syndrome Mailing List..http//www.egroups.com.
http://www.icomm.ca/geneinfo/sg-s.htm
Annual Report 1997
The human FLII gene lies on chromosome 17p11.2 near the centre of thecritical region deleted in smithmagenis syndrome (SMS). SMS
http://biology.anu.edu.au/rsbsweb/annualreport/1997/112.shtml

Extractions: annual report 1997 previous section start of section previous page next page ... next section Gene structure, expression and targeting of the mammalian flightless-1 (FLII) gene Hugh Campbell, Shelley Fountain, Ian Young#, Klaus Matthaei#, Deborah Davy#, Michael Crouch#, Ken-Shiung Chen*, James Lupski* Background and objectives Null mutations in the D. melanogaster fliI gene result in growth arrest of the embryo during early development. Cellularization of the syncytial blastoderm is affected and the next developmental stage, gastrulation, fails. Other mutations in the gene allow the development of the adult fly, but cause defects in the indirect flight muscles and result in flightlessness. We showed previously that the D. melanogaster gene encodes a large (1256 amino acid) protein containing a C-terminal domain related to the actin-binding protein gelsolin. It also encodes an N-terminal leucine-rich repeat domain, likely to be involved in protein-protein interactions. We have cloned the nematode C. elegans
Le Syndrome De Smith-Magenis
syndrome de smith-magenis. Maladiesrares. Le syndrome de smith-magenis. Touchant un enfant sur
http://www.essentielsante.net/Html/MaladiesRares/cadre/120076300.htm
Error Page
Translate this page MALADIE smith-magenis, syndrome de, CIM Q87.8, Le syndrome de smith-magenisest un syndrome microdélétionnel, probablement de
http://orphanet.infobiogen.fr/Site/Exp.stm?Lng=FR&Expert=819
OMIM ENTRY 182290
Resource of clinical information, including extensive study findings. Features a resource list.
http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?182290
Health Library - Smith Magenis Syndrome
Smith Magenis syndrome. Synonyms Disorder Subdivisions General DiscussionResources National Organization for Rare Disorders. Important
http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid
Health Library - Smith Magenis Syndrome
Smith Magenis syndrome. Synonyms Disorder Subdivisions General DiscussionResources National Organization for Rare Disorders. Important
http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
NORD - National Organization For Rare Disorders, Inc.
Smith Magenis syndrome. View Cart/Checkout. Copyright 1993, 1994, 1995, 1997 Synonymsof Smith Magenis syndrome Chromosome 17, Interstitial Deletion 17p;
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Smith Magenis
Health Library - Smith Magenis Syndrome
Saint Luke's Health System eLibrary. Smith Magenis syndrome. Synonyms Disorder SubdivisionsGeneral Discussion Resources National Organization for Rare Disorders.
http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h
Home
Welcome to the Smith Magenis syndrome Foundation Web Site
http://homepage.ntlworld.com/rich.arnold/

Extractions: What is Smith-Magenis Syndrome (SMS) Who to Contact SMS Leaflet Conference ... Professional Advisory Board This site has been created to help provide people with support, information and help with all aspects of SMS. You may be a professional wanting advice or information or you may be a parent who does or does not know if your child has SMS. The site will provide a medical description of what SMS is. It will provide you with someone to speak to or email if you require further information. It will continually provide you with information regarding medical advice or events which will focus on SMS, This information will be provided by Professionals and/or Parents who have children with SMS. Useful Links Prisms (USA SMS web site)
Health Library - Smith Magenis Syndrome
FREE. Smith Magenis syndrome. Synonyms Disorder Subdivisions GeneralDiscussion Resources National Organization for Rare Disorders.
http://hvlib.integris-health.com/Library/HealthGuide/IllnessConditions/topic.asp
Syndrome - S
Smith-MagenisSyndrome. Sneddon Syndrom (Livedo Racemosa) Livedo racemosa
http://www.erzwiss.uni-hamburg.de/personal/hoffmann/syndrome/syn-s.html

Extractions: Uni Hamburg FB Erziehungswissenschaft Institut 05 Suche ... Links S YNDROME - S Symbole: = Homepage; = Aufsatz, Artikel, Monographie; = Kurzinformation. Saethre Chotzen Syndrom Schizophrenie Silver Russel Syndrom Smith Lemli Opitz Syndrom Smith Magenis Syndrom Sneddon Syndrom (Livedo Racemosa) Sotos Syndrom Spastische Spinalparalyse Spina bifida Sudeck Syndrom (Algodystrophie, Complex Regional Pain Syndrome I) Uni Hamburg FB Erziehungswissenschaft Institut 05 ... Links

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