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

Syndrome de Coffin-Lowry Synonyme(s) CISMeF Coffin-Lowry. Arborescence(s) syndrome de Coffin-Lowry Coffin-Lowry Syndrome maladies du système nerveux maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : guide ressources Coffin-Lowry, syndrome de [Par Dr Gilgenkrantz S. Site éditeur Orphanet mots clés : maladies rares signes et symptômes *syndrome de Coffin-Lowry syndrome de Coffin-Lowry /diagnostic type : *association patients *guide ressources *structure recherche *texte 13 août 2005 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

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

Syndrome de coffin-lowry : arborescences MeSH Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF maladies du système nerveux manifestations neurologiques manifestations neuro-comportementales retard mental ... syndrome de Rett 25 février 2005 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

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

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Neurology Online. Figures Only Harum et al. Neurology. 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 All Cognitive Disorders/Dementia All Genetics To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$20.00 Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

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

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Neurology Online. Full Text Harum et al. Neurology. 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 All Cognitive Disorders/Dementia All Genetics To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$20.00 Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

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

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

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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

Technologie Synomia Actualité sciences High-tech La matière ... rss LA VIE Progrès importants sur le syndrome de Coffin-Lowry, maladie génétique rare Source : INSERM , le 11/05/2004 à 10h18 Les mécanismes moléculaires du syndrome de Coffin-Lowry, une maladie génétique caractérisée par un retard mental et des anomalies du squelette, ont été en partie élucidés par les équipes d'André Hanauer (CNRS-Inserm-Université Louis Pasteur) et de Gérard Karsenty. 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

Tips for printing X - Linked Mental Retardation Hypotonic Facies or Alpha Thalassemia / Mental Retardation Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Title and ATRX S. Special Resources XLMR - Hypotonic Facies Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals Under Development [P] X - linked Mental Retardation Hypotonic Facies Syndrome or Alpha - Thalassemia Mental Retardation Syndrome ATRX Syndrome Alpha Thalassemia / Mental Retardation by Roger E Stevenson, MD June 19, 2000 from GENEClinics 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

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. Kilder Mendelian Inheritance in Man, 12th ed., no. 303600. ORPHANET (fransk database) CSH 201299 /jesh Mere viden: Undersøgelse / Vejledning: John F. Kennedy Instituttet Gl. Landevej 7 2600 Glostrup Tlf.: 43 26 01 00 Fax: 43 43 11 30 Center for Sjældne Sygdomme Århus Universitetshospital Brendstrupgårdsvej 100 8200 Århus N 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

Mai 2004 - ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology : implication for Coffin-Lowry Syndrome. Yang X., Matsuda K. , Bialek P. , Jacquot S. (1), Masuoka H.C. , Schinke T. , Li L. , Brancorsini S. (1), Sassone-Corsi P. (1), Townes T.M. , Hanauer A. (1) and Karsenty G. Cell, 30 avril 2004. Vol. 117, p1-20. (2) : Department of molecular and human genetics and bone disease program of Texas, Houston, USA. Contact chercheur : Inserm U596 / IGBMC andre@titus.u-strasbg.fr Courriel : francoise.tristani@cnrs-dir.fr Contacts bureau de presse : CNRS : Isabelle Tratner Courriel : isabelle.tratner@cnrs-dir.fr Inserm : Courriel : ciancia@tolbiac.inserm.fr

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

search webmaster French Molecular Pathology Department Departments Teams Team leader : Contact : andre@igbmc.u-strasbg.fr Tel. 0033 (0) 3 88 65 34 00 Research interests : Coffin-Lowry syndrome and X-Linked mental retardation Team Members : Permanent scientist(s) Post-doctoral fellow(s): Graduate Student(s): Aline DUBOS DEA student(s) Mariam CHENDEB Engineers/Technicians Solange PANNETIER Main publications : Zeniou M, Ding T, Trivier E, Hanauer A. (2002) Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning Hum Mol Genet. 11:2929-40. M Zeniou, S Pannetier, JP Fryns, A Hanauer (2002) Unusual splice site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. Am J Hum Genet 70:1421-33. JP. Delaunoy, F. Abidi, M Zeniou, S Jacquot, K Merienne, S Pannetier, JL Mandel, CE Schwartz, A Hanauer (2001) Mutations in the X-linked RSK2 gene in patients with Coffin-Lowry syndrome. Hum Mut 17 : 103-116. K. Merienne, S. Jacquot, M. Zeniou, S. Pannetier, P. Sassone-Corsi, A. Hanauer. (2000) Activation of RSK by UV-light. Phosphorylation dynamics and involvement of the MAPK pathway. Oncogene 19 : 4221-4229.

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

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: 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. RESEARCH NEWS Phosphorylation, CREB, and Mental Retardation 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

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... Coffin-Lowry Syndrome Foundation Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details. url: clsfoundation.tripod.com/ National Library of Medicine: Coffin-Lowry Syndrome (CLS) A table showing the synonyms, a summary and major features. url: www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome2... NINDS: Coffin Lowry Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke. url: www.ninds.nih.gov/disorders/coffin_lowry/coffin_lo... NORD: Coffin Lowry Syndrome General information about this syndrome, its alternative names and further resources. url: www.rarediseases.org/search/rdbdetail_abstract.htm...

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.

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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