81. Syndrome De Coffin-Lowry Translate this page Référence ATF4 is a substrate of RSK2 and an essential regulatorof osteoblast biology implication for coffin-lowry syndrome. http://www.inserm.fr/servcom/servcom.nsf/0/b7666d1de016d100c1256e860023daff?Open

82. Health Education Database | Health & Safety Resources | Child Health & Safety | Title CLSF News. Author coffinlowry syndrome Foundation. Publication Date10/1/1996. Format Newsletter. Publisher coffin-lowry syndrome Foundation. http://www.seattlechildrens.org/child_health_safety/health_safety_resources/cc_S

83. Coffin-Lowry coffinlowry syndrome. April 2003. v Mode of Inheritance X-linkeddominant. v Chromosome location Xp22.2-p22.1. v Molecular genetics. http://www.genesoc.com/counseling/Outlines/CoffinLowry.htm

Resources for Genetic Counselors site updated May 10, 2004 outlines links search Coffin-Lowry Syndrome April 2003 v Mode of Inheritance: X-linked dominant v Chromosome location: Xp22.2-p22.1 v Molecular genetics Coffin-Lowry gene is a growth factor regulated serine-threonine kinase (RPS6KA3 or RSK) Kinase activation in a number of pathways Plays a role in stimulation of the cell cycle between G and G Activates CREB (cAMP response element binding protein) Involved in neuronal survival Involved in conversion from short term to long term memory Cells in patients with CLS have defective EGF stimulated phosphorylation of S6 There are normal variants/polymorphisms Normal gene product: ribosomal protein S6 kinase alpha 3 Mutations in the RPS6KA3 give rise to CLS and XLMR v Penetrance In males with the disease-causing mutation: 100% will be affected In females with the disease-causing mutation are carriers and are at high risk for developmental delay and mild physical signs of CLS v Incidence and Carrier Frequency No estimate of prevalance has been reported.

84. Health Library - coffinlowry syndrome. This information is provided as a resource and does notconstitute an endorsement for any group. The coffin-lowry syndrome Foundation. http://healthlink.uhseast.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29c

85. GEMdatabase - Selected Title TITLE coffinlowry syndrome. LANGUAGE English. LENGTH 14 pages.DATE July 2002. COST CONDITIONS coffin-lowry syndrome. SUBJECTS http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=860

86. Blackwell Synergy - Cookie Absent Cognitive function in coffinlowry syndrome. Confirmation and refinement of thegenetic localization of the coffin-lowry syndrome locus in Xp22.1-22.2. http://www.blackwell-synergy.com/links/doi/10.1034/j.1399-0004.2002.610410.x/abs

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

87. Entrez PubMed Click here to read Cognitive impairment in coffinlowry syndrome correlateswith reduced RSK2 activation. Harum KH, Alemi L, Johnston MV. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

88. Entrez PubMed Click here to read coffinlowry syndrome a 20-year follow-up and reviewof long-term outcomes. Hunter AG. Eastern Ontario Genetics http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

89. References For Coffin-Lowry Syndrome With The MeSH Term Deafness References for coffinlowry syndrome with the MeSH term Deafness, G2D Home.PMID and date. Follow the link to see the corresponding entry by PubMed http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Deafness:U1210:Coffi

90. References For Coffin-Lowry Syndrome With The MeSH Term References for coffinlowry syndrome with the MeSH term Orofaciodigitalsyndromes, G2D Home. PMID and date. Follow the link to see http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Orofaciodigital_Synd

91. J Med Genet -- Abstracts: Hanauer And Young 39 (10): 705 REVIEW ARTICLE. coffinlowry syndrome clinical and molecular features.A Hanauer 1 and ID Young 2 Keywords coffin-lowry syndrome; RSK2; CREB. http://jmg.bmjjournals.com/cgi/content/abstract/39/10/705

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Hanauer, A Young, I D Alert me when: new articles cite this article Download to Citation Manager Collections under which this article appears: Genetics Journal of Medical Genetics Journal of Medical Genetics REVIEW ARTICLE Coffin-Lowry syndrome: clinical and molecular features A Hanauer and I D Young Department of Clinical Genetics, Leicester Royal Infirmary, Leicester LE1 5WW, UK Correspondence to: Professor I D Young, Department of Clinical Genetics, Leicester Royal Infirmary, Leicester LE1 5WW, UK; ABSTRACT The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. Mild progression

92. J Med Genet -- Abstracts: Crow Et Al. 35 (2): 94 Download to Citation Manager. Journal of Medical Genetics, 1998, Vol 35, 9498. ARTICLES. Cataplexy and muscle ultrasound abnormalities in coffin-lowry syndrome. http://jmg.bmjjournals.com/cgi/content/abstract/35/2/94

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Crow, Y. J. Stephenson, J. B. Alert me when: new articles cite this article Download to Citation Manager Journal of Medical Genetics, 1998, Vol 35, 94-98 ARTICLES "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome YJ Crow, SM Zuberi, R McWilliam, JL Tolmie, A Hollman, K Pohl and JB Stephenson Department of Clinical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, UK. The Coffin-Lowry syndrome is a rare cause of mental retardation recognised by its distinctive facial and digital features. We have observed an unusual, non-epileptic, cataplexy-like phenomenon in three subjects with the syndrome and we speculate that this feature may go unrecognised. We also provide evidence of neuromuscular dysfunction as part of the phenotype by showing abnormalities on muscle ultrasound in four gene carriers.

93. Mutations In The Kinase Rsk-2 Associated With Coffin-Lowry Syndrome letters to nature Nature 384, 567 570 (1996); doi10.1038/384567a0 Mutationsin the kinase Rsk-2 associated with coffin-lowry syndrome. http://www.nature.com/cgi-taf/DynaPage.taf?file=/nature/journal/v384/n6609/abs/3

94. OMIM - COFFIN-LOWRY SYNDROME; CLS http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=303600

95. Des Progrès Importants Dans La Compréhension Du Mécanisme Moléculaire Du Syn Translate this page Références ATF4 is a substrate of RSK2 and an essential regulatorof osteoblast biology implication for coffin-lowry syndrome. http://www2.cnrs.fr/presse/communique/470.htm?debut=8

96. CSH/Sjældne Handicap/Korte/Coffin-Lowry Syndrom 3391 4020. Vidensressourcer På hjemmesiden for coffinlowry SyndromeFoundation indsamles information om syndromet. Foreningen 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.

97. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?303600

98. Gimenei >> Health >> Conditions_and_Diseases >> Genetic_Disorders >> Coffin_Lowr Gimenei.com, Search for Scope All Words, Results per page 10.Request Timeout 2, http://www.gimenei.com/directory/top/Health/Conditions_and_Diseases/Genetic_Diso

Search for: Scope: All Words Any Word Phrase Results per page: Request Timeout: Search Depth: Gimenei Health Conditions and Diseases Genetic Disorders Coffin Lowry Syndrome Music: Shall We Gather - American Hymns and Spirituals - I couldn't recommend a CD more highly. As a musician I was amazed at the variety of the music here and the truly exceptional performances. It's seems we can always rely on Albany to put out the most interesting and highest quality recordings. Music: Mormon Tabernacle Choir: The Sound of Glory-Battle Hymn of the Republic - If you want to hear the best of the best, this CD is it. These hymn arrangements are just beautiful and very touching. I highly recommend this to anyone who enjoys the choir and wants to feel a little closer to heaven. The choir seems to sing literally with one voice and you feel like they are singing just for you. Congratulations to the new conductor, Craig Jessop and all those who contributed to the quality that went into producing this CD. Toy: Ladybug Land - My 3-year old absolutely LOVES ladybugs, and this item was a big hit with her. We kept it on the kitchen counter, near where we eat, and the ladybugs and their activities were always a popular dinner conversation topic! When the weather turned warm enough, we released the ladybugs in our yard and watched each and every one of them spread their wings and fly away. I am sure we will order additional larvae and do it all over again. The product is sturdy (we just had to remind our daughter not to jostle or try to lift the dome) and makes it easy to achieve successful results. A very fun and experience for the entire family!!

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