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Coffin Lowry Syndrome:     more detail

The Official Parent's Sourcebook on Coffin-lowry Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30 Coffin-Lowry Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20 Coffin-Lowry syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Roger, MD Stevenson, 2005

lists with details

81. Syndrome De Coffin-Lowry : Sites Et Documents Francophones
    Translate this page coffin-lowry, syndrome de Par Dr Gilgenkrantz S. Site éditeur Orphanet base dedonnées sur les maladies rares et les médicaments orphelins.  
    http://www.chu-rouen.fr/ssf/pathol/syndromedecoffin-lowry.html

82. Syndrome De Coffin-lowry : Arborescences MeSH
    http://www.chu-rouen.fr/navimesh/S/navisyndromedecoffinlowry.html

83. Entrez PubMed
    Patients with the Xlinked disorder coffin-lowry syndrome (CLS) have cognitivedisabilities, distinctive features, and bony abnormalities as well as  
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

84. OMIM - COFFIN-LOWRY SYNDROME; CLS
    http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303600

85. GeneCard For CLS
    Genatlas disease CLS coffinlowry syndrome characterized by mental retardation,shortstature,evolutive coarse facies,everted lips,progressive  
    http://genecards.bcgsc.bc.ca/cgi-bin/carddisp?CLS

86. Neurology -- Sign In Page
    (A, B) RSK2 activity is variably impaired in coffin–lowry syndrome (CLS) lymphoblasts.In the unstimulated state (gray bars), there is wide variability in  
    http://www.neurology.org/cgi/content/figsonly/56/2/207
    
    Extractions: This Article Abstract Full Text Full Text (PDF) ... Alert me if a correction is posted Services Email this article 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 Harum, K. H. Articles by Johnston, M. V. Related Collections All Pediatric

87. Neurology -- Sign In Page
    Patients with the Xlinked disorder coffin–lowry syndrome (CLS) have cognitive coffin–lowry syndrome (CLS) is an X-linked developmental disorder of  
    http://www.neurology.org/cgi/content/full/56/2/207
    
    Extractions: This Article Abstract Figures Only Full Text (PDF) ... Alert me if a correction is posted Services Email this article 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 Harum, K. H. Articles by Johnston, M. V. Related Collections All Pediatric

88. Syndrome De Coffin-Lowry
    Translate this page coffin-lowry syndrome. Descripteurs. ailes du nez minces. bouche portéeà rester ouverte. cutis laxa. déficience intellectuelle  
    http://www.crdime.qc.ca/syndromes/syncoffin.htm
    
    Extractions: Syndrome de Coffin-Lowry Prévalence: Une soixantaine de cas ont été rapportés jusqu'à maintenant. Le syndrome touche les personnes de sexe masculin autant que féminin mais l'importance de l'affection est beaucoup plus grande chez les hommes. Caractéristiques physiques: Caractéristiques du développement: La déficience intellectuelle est plus sévère chez les personnes de sexe masculin (souvent au niveau de la déficience sévère) que chez les personnes de sexe féminin. Les signes deviennent plus marqués avec l'âge. Difficultés associées: Il peut exister un état de crises épileptiques chez les personnes atteintes. Causes: Il s'agit probablement d'un désordre des tissus conjonctifs causé par une anomalie située sur le bras court du chromosome X. Traitement: Les seuls traitements sont symptomatiques. Diagnostic: Se fait par l'observation des caractères, en excluant le syndrome du X fragile, le syndrome de Sotos et le syndrome de Williams-Buren. Terme anglais: Coffin-Lowry syndrome Descripteurs: ailes du nez minces bouche portée à rester ouverte cutis laxa déficience intellectuelle démarche large démarche maladroite doigts hyperextensibles élasticité des articulations élasticité des ligaments épilepsie fentes palpébrales obliques plutôt qu'horizontales, le haut des lignes pointant vers la racine du nez

89. Login
    coffinlowry syndrome (CLS) is an X-linked disorder characterized by severe coffin-lowry syndrome (CLS) (MIM 303600) is a rare syndromic form of  
    http://dx.doi.org/10.1086/302153

90.  Actualité - Progrès Importants Sur Le Syndrome De Coffin-Lowry, Maladie Gé
    Translate this page Les mécanismes moléculaires du syndrome de coffin-lowry, une maladie génétiquecaractérisée par un retard mental et des anomalies du squelette,  
    http://www.futura-sciences.com/news-progres-importants-syndrome-coffin-lowry-mal
    
    Extractions: Ces résultats, publiés dans la revue Cell du 30 avril 2004, ouvrent la voie au développement de nouvelles stratégies thérapeutiques pour cette maladie . Plus largement, ils permettront une meilleure compréhension de l'ostéogenèse et de ses dysfonctionnements, par exemple dans l' ostéoporose Le syndrome de Coffin-Lowry (CLS) est une maladie génétique extrêmement invalidante qui affecte beaucoup plus sévèrement les garçons que les filles et touche environ une naissance sur 50 000 . Il est caractérisé par un retard mental sévère et un retard de croissance osseuse qui se traduit par diverses anomalies du squelette (petite taille, dysmorphie faciale, déformations de la colonne vertébrale et du thorax Le gène RSK2, dont les

91. XLMR - Hypotonic Facies Syndrome
    coffin lowry syndrome, an X - linked mental retardation syndrome caused by For information on laboratory testing for coffin - lowry syndrome  
    http://ibis-birthdefects.org/start/xlinkeds.htm
    
    Extractions: X - linked mental retardation hypotonic facies ( XLMR - hypotonic facies ) syndrome is characterized by distinctive craniofacial features, genital anomalies, and severe developmental delays with hypotonia and mental retardation. Craniofacial abnormalities include small head circumference, telecanthus or ocular hypertelorism, small nose, tented upper lip, and prominent or everted lower lip with coarsening of the facial features over time. Although all patients have a normal 46,XY karyotype, genital anomalies range from hypospadias and undescended testicles to severe hypospadias and ambiguous genitalia to normal - appearing female genitalia. Global developmental delays are evident in infancy and some affected individuals never walk independently or develop significant speech.

92. CSH/Sjældne Handicap/Korte/Coffin-Lowry Syndrom
    På hjemmesiden for coffinlowry syndrome Foundation indsamles information omsyndromet. Foreningen har ligeledes en postliste, man kan tilmelde sig.  
    http://www.csh.dk/sjaeldne_handicap/korte/CoffinLowrySyndrom.html
    
    Extractions: Coffin-Lowry syndrom Medfødt, kønsbunden arvelig sygdom, der skyldes en genetisk fejl på et X-kromosom. Sygdommen i sin fulde form rammer kun drenge, men kvindelige anlægsbærere kan også have symptomer i mildere grad. Sygdommen viser sig allerede fra de tidlige barneår ved karakteristiske ansigtstræk (bred næse, bredtstillede øjne), tilspidsede fingre og alvorlig mental udviklingshæmning samt nogen væksthæmning. I løbet af barne- og ungdomsårene udvikles skæv ryg, ofte i svær grad. Der findes ingen specifik behandling, men understøttende fysioterapi er vigtig. John Østergaard Kontakt til andre: Center for Små Handicapgruppers kontaktordning er et tilbud til mennesker med sjældne sygdomme og handicap, som ikke har en forening eller andet netværk i Danmark at henvende sig til. Via kontaktordningen tilbyder vi at formidle kontakt mellem personer eller familier, der lever med samme sjældne handicap.

93. Des Progrès Importants Dans La Compréhension Du Mécanisme Moléculaire Du Syn
    Translate this page Le syndrome de coffin-lowry (CLS) est une maladie génétique extrêmement Grâce à la réalisation de souris modèles du syndrome de coffin-lowry,  
    http://www.forumlabo.com/2002/actus/actus/INSERM/0504progres.htm

94. Des Progrès Importants Dans La Compréhension Du Mécanisme Moléculaire Du Syn
    Translate this page Les mécanismes moléculaires du syndrome de coffin-lowry, Le syndrome decoffin-lowry (CLS) est une maladie génétique extrêmement invalidante qui affecte  
    http://www2.cnrs.fr/presse/communique/470.htm?&theme=7

95. Rarelink.net - Diagnoselisten Coffin Lowry Syndrom
    Du er her Hjem Diagnoselisten coffin lowry syndrom coffinlowry syndrome,coffin-lowry syndrome, coffin-lowry syndrom, coffin lowry syndrom.  
    http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=58

96. IGBMC Recherche
    The coffinlowry syndrome genetic studies, functional studies, KO mice. coffin-lowry syndrome and X-Linked mental retardation. Team Members  
    http://www-igbmc.u-strasbg.fr/recherche/Dep_PM/Eq_AHanauer/index_uk.html

97. Phosphorylation, CREB, And Mental Retardation -- TODD And MACK 50 (6): 672 -- Pe
    One example of such progress is research on coffinlowry syndrome (CLS), anX-linked disorder characterized by mental retardation, facial dysmorphisms,  
    http://www.pedresearch.org/cgi/content/full/50/6/672
    
    Extractions: This Article Full Text (PDF) correspondence: Submit a response Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Alert me to new issues of the journal Download to citation manager PubMed Articles by TODD, P. K. Articles by MACK, K. J. Pediatric Research International Pediatric Research Foundation, Inc. PETER K. TODD and KENNETH J. MACK Waisman Center on Mental Retardation, University of Wisconsin-Madison, and, the Mayo Clinic, Rochester, MN 55905, U.S.A. O VER THE PAST decade, our understanding of the molecular biology of learning and memory has expanded dramatically. The identification of critical receptors, signal transduction components, transcription factors, and RNA binding proteins has painted an ever more detailed picture of how memories are formed. Despite these advances, the connection between basic science findings and developmental disabilities in patients has been slow to emerge. With a few

98. Health/Conditions And Diseases/Genetic Disorders/Coffin Lowry Syndrome -- The Do
    Ask the doctor. Get free medical consultation and advice. Choose a medicalspecialist and post your question! Doctors in all medical fields are available.  
    http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Genetic_Disor

99. The Health Library — Genetics And Birth Defects
    coffinlowry SyndromeMadisons Foundation Frequently Asked Questionscoffin-lowrySyndrome Foundation coffin-lowry SyndromeGenetics Home Reference, NLM  
    http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetic_mca_ac.
    
    Extractions: Diseases and Disorders Use these links to jump directly to your topic of interest in Genetics and Birth Defects: Genetics: General Genetics Gene Therapy Genetic Counseling Genetic Testing ... Genetics of Specific Diseases Birth Defects: General Birth Defects Cardiovascular Defects Connective Tissue Disorders Craniofacial Anomalies ... S - W Multiple Congenital Anomalies (#, A - C) Jump to: A B C D ... P Q R S T U ... W X Y Z 22q11 Deletion What is 22q?:International 22q11.2 Deletion Syndrome Foundation 22q and You Newsletter:Children's Hospital of Philadelphia 22q11.2 Deletion Syndrome:Genetics Home Reference, NLM 22q11.2 Deletion Syndrome:GeneReviews 22q13 Deletion 22q13 Deletion (Phelan-McDermid Syndrome):Chromosome 22 Central 22q13.3 Deletion Syndrome:GeneReviews Alstrom Syndrome Alstrom Syndrome:MedlinePlus Medical Encyclopedia Alstrom Syndrome:Alstrom Syndrome International Alstrom Syndrome:Genetics Home Reference, NLM Alstrom Syndrome:GeneReviews Andersen-Tawil Syndrome Cause of Rare Genetic Disorder Points to Faulty Ion Channel:Howard Hughes Medical Institute Correlation Between Long QT Syndrome And Andersen Syndrome:QTsyndrome.ch Andersen-Tawil Syndrome:Genetics Home Reference, NLM Andersen-Tawil Syndrome:GeneReviews Angelman Syndrome Angelman Syndrome:NINDS Facts About Angelman Syndrome:Angelman Syndrome Foundation Angelman Syndrome:Genetics Home Reference, NLM

100. Welcome
     http://www.clsf.info/

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