61. Qango : Health: Diseases And Conditions: R: Rubinstein-Taybi Syndrome category Options Help. Home Health Diseases and Conditions R rubinsteintaybi syndrome, Suggest a Site. Health, etc. If you http://www.qango.com/dir/Health/Diseases_and_Conditions/R/Rubinstein-Taybi_Syndr

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62. Entrez PubMed Click here to read A mouse model of rubinsteintaybi syndrome defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. Bourtchouladze R http://www.facultyof1000.com/pubmed/12930888

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order Proc Natl Acad Sci U S A. 2003 Sep 2;100(18):10518-22. Epub 2003 Aug 20. Related Articles, Links A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. Bourtchouladze R, Lidge R, Catapano R, Stanley J, Gossweiler S, Romashko D, Scott R, Tully T.

63. CREBBP Translate this page Reference. CM021078, 23, TCG-TAG, Ser-Term, rubinstein-taybi syndrome, 1. CM950327, 136, aCAG-TAG, Gln-Term, rubinstein-taybi syndrome, 2. CM950328, http://archive.uwcm.ac.uk/uwcm/mg/ns/1/437159.html

CREBBP Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference TCG-TAG Ser-Term Rubinstein-Taybi syndrome aCAG-TAG Gln-Term Rubinstein-Taybi syndrome gCAG-TAG Gln-Term Rubinstein-Taybi syndrome aCGA-TGA Arg-Term Rubinstein-Taybi syndrome aCGA-TGA Arg-Term Rubinstein-Taybi syndrome cGCA-ACA Ala-Thr Rubinstein-Taybi syndrome TAT-TGT Tyr-Cys Rubinstein-Taybi syndrome aAAG-TAG Lys-Term Rubinstein-Taybi syndrome cGAA-AAA Glu-Lys Rubinstein-Taybi syndrome CGG-CCG Arg-Pro Rubinstein-Taybi syndrome TATg-TAA Tyr-Term Rubinstein-Taybi syndrome aCGA-TGA Arg-Term Rubinstein-Taybi syndrome aCAA-TAA Gln-Term Rubinstein-Taybi syndrome CGC-CAC Arg-His Rubinstein-Taybi syndrome AAC-AGC Asn-Ser Rubinstein-Taybi syndrome gCAG-TAG Gln-Term Rubinstein-Taybi syndrome cATG-CTG Met-Leu Rubinstein-Taybi syndrome GCC-GTC Ala-Val Rubinstein-Taybi syndrome References 1 - Coupry (2002) J Med Genet 2 - Petrij (1995) Nature ... Hum Mol Genet HGMD

64. Rubinstein-Taybi Syndrome Caused By Mutations In The Transcriptional Co-activato letters to nature Nature 376, 348 351 (2002); doi10.1038/376348a0 rubinstein-taybi syndrome caused by mutations in the transcriptional co-activator CBP. http://www.nature.com/cgi-taf/DynaPage.taf?file=/nature/journal/v376/n6538/abs/3

65. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome Directory Guide to rubinstein-taybi syndrome sites on the internet. rubinstein-taybi syndrome. http://www.directory.net/Health/Conditions_and_Diseases/Rare_Disorders/Rubinstei

Rubinstein-Taybi Syndrome Directory: Guide to Rubinstein-Taybi Syndrome sites on the internet. Search Engines: Google Yahoo MSN FindWhat ... City Guides Rubinstein-Taybi Syndrome Health Conditions and Diseases Rare Disorders Rubinstein-Taybi Syndrome Websites Rubinstein-Taybi Syndrome http://www.rubinstein-taybi.org A site devoted to the families and people diagnosed with this syndrome. HealthWise Knowledgebase http://www.healthwise.org/kbase/nord/nord461.htm An article about Rubinstein-Taybi syndrome, a general discussion, symptoms, causes, incidence, treatment and resources. The CaF Directory http://www.cafamily.org.uk/direct/r36.html A description of rubinstein taybi syndrome, its inheritance pattern, psychological and behavoural characteristics and a support group for those living in the United Kingdom. Pediatric Database http://www.icondata.com/health/pedbase/files/rubinste.htm An in depth look at rubinstein-taybi syndrome beginning with a definition, on to epidemiology, pathogenesis, clinical features, investigations and management. Rubinstein Taybi Syndrome Support Group (UK) http://www.rtsuk.org/

66. Rubinstein-Taybi Syndrome From Linkspider UK Health Directory Directory Topic rubinsteintaybi syndrome assoicated to Health. Directory Tree Top Health Conditions and Diseases Rare Disorders http://linkspider.co.uk/Health/ConditionsandDiseases/RareDisorders/Rubinstein-Ta

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 Rubinstein-Taybi Syndrome assoicated to Health Directory Tree: Top Health Conditions and Diseases Rare Disorders : Rubinstein-Taybi Syndrome ( See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Musculoskeletal Disorders Health: Conditions and Diseases: Neurological Disorders: Chromosomal Rubinstein-Taybi Syndrome - A site devoted to the families and people diagnosed with this syndrome.

67. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome. Definition rubinstein-taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. http://www.shands.org/health/information/article/001249.htm

Disease Injury Nutrition Poison ... Polydactyly - an infant's hand Rubinstein-Taybi syndrome Definition: Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. Alternative Names: Rubinstein syndrome Causes, incidence, and risk factors: Rubinstein-Taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. The gene involved in RTS, which is called CREB binding protein (CREBBP), was identified in 1995. Most patients have mutations in the gene, resulting in an abnormal CREB binding protein. About 10% of patients, typcially with more severe problems, have an outright deletion of the gene and they do not make any of the protein. Most cases are sporadic and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if one parent passes on the defective gene, the child will be affected. The classic feature is broad thumbs and great toes, but typically there is also

68. Disease - Rubinstein-Taybi Syndrome - Detroit, Michigan Disease rubinstein-taybi syndrome. Causes And Risk rubinstein-taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. http://www.henryfordhealth.org/12313.cfm

Health Encyclopedia Back to main Health Information page Disease - Rubinstein-Taybi syndrome Definition: Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. Alternative Names: Rubinstein syndrome Causes And Risk: Rubinstein-Taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. The gene involved in RTS, which is called CREB binding protein (CREBBP), was identified in 1995. Most patients have mutations in the gene, resulting in an abnormal CREB binding protein. About 10% of patients, typcially with more severe problems, have an outright deletion of the gene and they do not make any of the protein. Most cases are sporadic and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if one parent passes on the defective gene, the child will be affected. The classic feature is broad thumbs and great toes, but typically there is also

69. Disease - Rubinstein-Taybi Syndrome, North Carolina Disease rubinstein-taybi syndrome. Causes And Risk rubinstein-taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. http://www.uhseast.com/11703.cfm

Back Email Us Search Centers of Excellence ... Disease Management Disease - Rubinstein-Taybi syndrome Definition: Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. Alternative Names: Rubinstein syndrome Causes And Risk: Rubinstein-Taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. The gene involved in RTS, which is called CREB binding protein (CREBBP), was identified in 1995. Most patients have mutations in the gene, resulting in an abnormal CREB binding protein. About 10% of patients, typcially with more severe problems, have an outright deletion of the gene and they do not make any of the protein. Most cases are sporadic and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if one parent passes on the defective gene, the child will be affected. The classic feature is broad thumbs and great toes, but typically there is also

70. Rubinstein-Taybi Syndrome Pediatrics. rubinsteintaybi syndrome. rubinstein-taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. The http://www.pennhealth.com/ency/article/001249.htm

Search Encyclopedia: List of Topics Print This Page  Pediatrics Rubinstein-Taybi syndrome Polydactyly - an infant's hand Definition: Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. Alternative Names: Rubinstein syndrome Causes, incidence, and risk factors: Rubinstein-Taybi syndrome (RTS) is a rare condition, affecting about 1 in 125,000 people. The gene involved in RTS, which is called CREB binding protein (CREBBP), was identified in 1995. Most patients have mutations in the gene, resulting in an abnormal CREB binding protein. About 10% of patients, typcially with more severe problems, have an outright deletion of the gene and they do not make any of the protein. Most cases are sporadic and likely due to a new mutation occurring during fetal development, which was not passed on by either parent. However, in some cases, it is inherited in an autosomal dominant fashion, which means that if one parent passes on the defective gene, the child will be affected. The classic feature is broad thumbs and great toes, but typically there is also

71. NodeWorks - Rare Disorders: Rubinstein-Taybi Syndrome Top Health Conditions Diseases Rare Disorders rubinsteintaybi syndrome ( 4 ). rubinstein-taybi syndrome is a rare genetic http://dir.nodeworks.com/Health/Conditions_and_Diseases/Rare_Disorders/Rubinstei

in entire NodeWorks Directory in Health in Rare Disorders in ++ Rubinstein-Taybi Syndrome Top Health Rare Disorders Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome is a rare genetic multisystem disorder that affects many organ systems of the body. HealthWise Knowledgebase An article about Rubinstein-Taybi syndrome, a general discussion, symptoms, causes, incidence, treatment and resources. Rubinstein Taybi Syndrome Support Group (UK) Information, forum, links, contacts, and guestbook. Rubinstein-Taybi Syndrome A site devoted to the families and people diagnosed with this syndrome. The CaF Directory A description of rubinstein taybi syndrome, its inheritance pattern, psychological and behavoural characteristics and a support group for those living in the United Kingdom. NodeWorks boosts web surfing! Page Returned in seconds - HTML Compressed Help build the largest human-edited directory on the web. Submit a Site Update a Site Open Directory Project Become an Editor

72. OMIM - RUBINSTEIN-TAYBI SYNDROME; RSTS http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180849

73. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome. Rubinstein .. A site devoted to the families and people diagnosed with rubinstein-taybi syndrome RUBINSTEIN http://www.health-nexus.org/rubinstein-taybi_syndrome.htm

Health-Nexus.Com Health-Nexus.Net The #1 Health information site Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome Site for families of children with the congenital disorder offers articles, poems, personal stories, and links to support groups. ... A site devoted to the families and people diagnosed with Rubinstein-Taybi Syndrome ... RUBINSTEIN-TAYBI SYNDROME Pediatric Database (PEDBASE); Discipline: GEN; Last Updated: 11/12/93 RUBINSTEIN-TAYBI SYNDROME. DEFINITION: A multiple congenital ... Rubinstein-Taybi Syndrome Who to Contact Rubinstein-Taybi Parent Group (RTPG) PO Box 146 Smith Center, Kansas, USA 66967 HealthWise Knowledgebase An article about Rubinstein-Taybi syndrome, a general discussion, symptoms, causes, incidence, treatment and resources.

74. Health Library - and sharing for parents of children with rubinsteintaybi syndrome. ruraltel.net WEBSITE http//www.rubinstein-taybi.org or www.rubinsteintaybi.com VERIFIED http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc

75. A Mouse Model Of Rubinstein-Taybi Syndrome: Defective Long-term Memory Is Amelio A mouse model of rubinsteintaybi syndrome Defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. Rusiko http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=193593&rendertype=abst

76. »»Reviews For Rubinstein-Taybi Syndrome«« rubinsteintaybi syndrome Reviews. Related Subjects Rare_Disorders. Book reviews for rubinstein-taybi syndrome sorted by average review score http://www.booksunderreview.com/Health/Conditions_and_Diseases/Rare_Disorders/Ru

Rubinstein-Taybi Syndrome Reviews Related Subjects: Book reviews for "Rubinstein-Taybi Syndrome" sorted by average review score: Nord Guide to Rare Disorders Author: National Organization for Rare Disorders Amazon base price: Used price: Buy one from zShops for: Average review score: No reviews found. Related Subjects: Search site for a Book Review Sort by: Rank Last Modified Date Title Path Reverse Sort

77. 759: Rubinstein-Taybi Syndrome: Deletions By FISH Associated With Mispatterning Program Nr 759 rubinsteintaybi syndrome deletions by FISH associated with mispatterning of the visceral left-right axis and death in infancy. http://www.faseb.org/genetics/ashg99/f759.htm

Program Nr: 759 Rubinstein-Taybi syndrome: deletions by FISH associated with mispatterning of the visceral left-right axis and death in infancy. O. Bartsch , A. Wagner , G.K. Hinkel , P. Krebs , M. Stumm , B. Schmalenberger , S. Balci , F. Majewski cbp was recently shown to function as a co-activator of transcription factor ci (cubitus interruptus) in hedgehog signalling: a molecular pathway establishing left-right asymmetry during blastogenesis. Thus the signs of Patients A and D may possibly represent a newly recognized pattern of RTS, or alternatively a novel contiguous gene syndrome.

78. Online Pharmacy, Health, And Medical Information Center - MedExplorer Top Rated Disease Disorders sites. Home Disease Disorders rubinsteintaybi syndrome Add URL to this Category Search Web rubinstein-taybi syndrome . http://www.medexplorer.com/subcategory.dbm?Nav=subcategory&subcat1=Rubinstein-Ta

79. Rubinstein-Taybi, Syndrome : Arborescences MeSH Translate this page rubinstein-taybi, syndrome arborescences MeSH. Menu général CISMeF. Vous pouvez aussi consulter toutes les arborescences des http://www.chu-rouen.fr/navimesh/R/navirubinsteintaybisyndrome.html

Rubinstein-Taybi, syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF appareil locomoteur, maladies os, maladies dysplasies os dysostoses ... Williams, syndrome 07 janvier 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

80. Sindrome Rubinstein Taybi Syndrome Bambi http://antares.fastnet.it/enti/bambi/sindrome-rubinstein-taybi.htm

Sindrome Rubinstein Taybi Rubinstein Taybi Syndrome http://www.bdp.it/disabili/forum/viewforum.php3?boardid=1 .it http://www.familyvillage.wisc.edu/lib_rub.htm http://www.rubinstein-taybi.org http://www.cafamily.org.uk/Direct/r36.html http://doctorbbs.com/ipes/arts.html ... http://www.specialink.com/e-curbcuts/MainCategories/Assistance/rubinstein.ht m http://www.rubinstein-taybi.org/bluebook/behavioral_issues_in_rubinstei.html http://georgia.ncl.ac.uk/URODwSMLS/IWS/Rs/RT.html http://www.worldmedicus.com/servlet/Controller/$7006000b307f0000.sj_viewi/ http://medlineplus.adam.com/ency/article/001249.htm ... http://ask.oxygen.com/AnswerFinal.asp?Link=http://thriveonline.oxygen.com/me n=0 http://www.kumc.edu/gec/support/rubinste.html http://iwhome.com/rts/Articles/Pamplet/Portugese/portugese.htm http://cadernodigital.uol.com.br/guiadobebe/artigos/sindromerubinstein.htm http://www.crosswinds.net/~ospecialchildren/databank/sindrome/rts/rts_index .htm http://www.entreamigos.com.br/temas/defmenta/sinrubi.htm http://www.rubinstein-taybi.org/html/messages/17.html La sindrome di Rubinstein e Taybi è una malattia genetica rara multisistema che colpisce molti organi del corpo. L'insieme di fattori associati a

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