81. A Mouse Model Of Rubinstein-Taybi Syndrome: Defective Long-term Memory Is Amelio A mouse model of rubinsteintaybi syndrome Defective long-term memory isameliorated by inhibitors of phosphodiesterase 4 http://www.pnas.org/cgi/content/abstract/100/18/10518

Published online before print August 20, 2003, 10.1073/pnas.1834280100 September 2, 2003 This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles Search for citing articles in: ISI Web of Science (23) PubMed PubMed Citation Articles by Bourtchouladze, R. Articles by Tully, T. Neuroscience A mouse model of Rubinstein-Taybi syndrome: Defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4 Rusiko Bourtchouladze Regina Lidge Ray Catapano Jennifer Stanley Scott Gossweiler Darlene Romashko Rod Scott and Tim Tully Helicon Therapeutics, Inc., One Bioscience Park Drive, Farmingdale, NY 11743; and Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724 Communicated by James D. Watson, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, July 8, 2003 (received for review May 11, 2003) Mice carrying a truncated form of cAMP-responsive element binding protein (CREB)-binding protein (CBP) show several developmental abnormalities similar to patients with Rubinstein-Taybi syndrome (RTS). RTS patients suffer from mental retardation, whereas

82. Keratoglobus In The Rubinstein-Taybi Syndrome -- Nelson And Talbot 73 (5): 385 - The case of a 20year-old male with the rubinstein-taybi syndrome associated Ocular features in rubinstein-taybi syndrome investigation of 24 patients http://bjo.bmjjournals.com/cgi/content/abstract/73/5/385

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Nelson, M. E. Articles by Talbot, J. F. British Journal of Ophthalmology, 1989, Vol 73, 385-387 ORIGINAL ARTICLES Keratoglobus in the Rubinstein-Taybi syndrome ME Nelson and JF Talbot Royal Hallamshire Hospital, Sheffield. The case of a 20-year-old male with the Rubinstein-Taybi syndrome associated with unilateral acute corneal hydrops is presented. The initial findings were of keratoglobus, but after the corneal oedema had settled the cornea assumed a more conical contour. The relationship between

83. RTS Pamphlet For Special Friends rubinsteintaybi syndrome Pamphlet submitted by Garry and Lorrie Baxter.rubinstein-taybi syndrome (RTS) was first described in a case report in 1957, http://www.specialfriends.org/medicalcareinf.html

Pamphlet introduction Character of RTS Character and procedures explained in parent terms Medical problems involved with RTS ... What’s available since 1990 on RTS? What is RTS... Garry and Lorrie Baxter have developed a parent friendly pamphlet with the following information about Rubinstein-Taybi Syndrome: Characteristics of RTS; Medical problems involved with RTS; Facts about RTS; What can you expect for development of the child with RTS; The children moderately affected with RTS; and What’s available since 1990 on RTS. You can print the information contained in this pamphlet. You can also send away for the pamphlet by contacting Lorrie Baxter at P.O. Box 146, Smith Center, Kansas 66967 or 888-447-2989 or lbaxter@ruraltel.net You are welcome to use the pamphlet as a reference for yourself, to give to professionals working with your child, and/or to give to family members and friends with questions. Top Rubinstein-Taybi Syndrome Pamphlet submitted by Garry and Lorrie Baxter Rubinstein-Taybi Syndrome (RTS) was first described in a case report in 1957, but it wasn’t until 1963 that the two doctors Jack H. Rubinstein and Hooshang Taybi reported on seven children with broad thumbs and great toes, facial abnormalities, and mental retardation. Since then the syndrome has become readily identifiable and has been reported in hundreds of cases from around the world.

84. Geneticalliance.org rubinsteintaybi syndrome Support Groups Rubinstein-Taybi Parent Group USAPO Box 146 Smith Center, KS 66967 Phone 785.697.2984 Fax 785.697.2985 http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

85. AFSRT L'Olivier Informations sur la maladie et l'association, revues de presse. http://www.afsrt.com/

Association Française du Syndrome de Rubinstein-Taybi, L'Olivier afsrt,olivier,association,rubinstein,taybi,rubinstein-taybi Association Française du Syndrome de Rubinstein-Taybi, L'Olivier

86. Rubinstein -Taybi Syndrome - FISH Analysis The Kleberg Cytogenetics Laboratory offers a fluorescence in situhybridization (FISH)based assay for identifying the microdeletion of 16p associatedwith http://www.bcmgeneticlabs.org/tests/cyto/rubinstein-taybi.html

RUBINSTEIN-TAYBI SYNDROME FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the microdeletion of 16p associated with Rubinstein-Taybi Syndrome. Clinical Features: Rubinstein-Taybi syndrome is found in approximately 1/125,000 newborns and is characterized by unusual facies, broadening of the thumbs and great toes, and mental retardation. The syndrome was mapped to distal 16p13.3 by the rare observation of chromosome rearrangements involving this region. Reasons for Referral: Patients with clinical features suggestive of Rubinstein-Taybi Syndrome may be tested for deletions of 16p13.3 by FISH simultaneously with high-resolution chromosomal analysis (if not previously performed). Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and shown to have a deletion detectable by FISH. Please call regarding all prenatal samples.

87. Penn State Faculty Research Expertise Database (FRED) Rubinstein Taybi syndrome, syndrome, Broad ThumbHallux. syndrome, Rubinstein,syndrome, rubinstein-taybi. syndromes, Broad Thumb-Hallux http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D012415

88. Syndrome De Rubinstein-Taybi : Sites Et Documents Francophones Translate this page rubinstein-taybi, syndrome de Par Pr Lacombe D. Site éditeur Orphanet base dedonnées sur AFSRT - Association Française du syndrome de rubinstein-taybi http://www.chu-rouen.fr/ssf/pathol/rubinsteintaybisyndrome.html

Syndrome de Rubinstein-Taybi Synonyme(s) CISMeF Rubinstein-Taybi. Synonyme(s) MeSH Nanisme de Rubinstein-Taybi ; Rubinstein-Taybi, syndrome Voir aussi retard mental Arborescence(s) syndrome de Rubinstein-Taybi rubinstein-taybi syndrome maladies de l'appareil locomoteur 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 : Qualificatifs : diagnostic guide ressources Rubinstein-Taybi, syndrome de [Par Pr Lacombe D. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2004 ; visité le : 08/08/2001]. mots clés : conseil génétique incidence maladies rares signes et symptômes ... syndrome de Rubinstein-Taybi /génétique type : *association patients *guide ressources *structure recherche *texte patient AFSRT - Association Française du Syndrome de Rubinstein-Taybi ; pays : France ; ville : Bordeaux ; langue : français ; format : html ; accès : gratuit ; non parrainé ; visité le : 16/05/2001].

89. Health/Conditions And Diseases/Rare Disorders/Rubinstein-Taybi Syndrome -- The D A description of rubinstein taybi syndrome, its inheritance pattern, urlwww.cafamily.org.uk/Direct/r36.html; Rubinstein Taybi syndrome Support Group http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Rare_Disorder

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... 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. url: www.cafamily.org.uk/Direct/r36.html Rubinstein Taybi Syndrome Support Group (UK) Information, forum, links, contacts, and guestbook. url: www.rtsuk.org/ Rubinstein-Taybi Syndrome A site devoted to the families and people diagnosed with this syndrome. url: www.rubinstein-taybi.org mozilla.org url: www.mozilla.org/ Wikipedia url: en.wikipedia.org/ edit url: editors.dmoz.org/editors/editcat.cgi?cat=Health/Co... More Search All the Web AltaVista Gigablast Google USENET ... Yahoo In association with ODP Help build the largest human-edited directory on the web.

90. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page MALADIE rubinstein-taybi, syndrome de. CIM Q87.1. Le syndrome de rubinstein-taybiou des pouces et des gros orteils trop larges est un syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=783

91. Rubinstein Taybi Syndrome UK Support Group Information, forum, links, contacts, and guestbook. http://www.rtsuk.org/

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92. Rubinstein Taybi Syndrome UK Support Group - Welcome Page Welcome to the Rubinstein Taybi syndrome UK Support Group. The group has beenoffering support for a number of years to parents with children affected by http://www.rtsuk.org/home.htm

Welcome to the Rubinstein Taybi Syndrome UK Support Group The group has been offering support for a number of years to parents with children affected by Rubinstein Taybi Syndrome. Initially, support was given by one mum who kept in touch with everyone by telephone or letter. To make use of today's technologies, www.RTSUK.org was set-up to provide information on RTS to a wider audience. Latest News Autumn 2002 Newsletter There is a new format for the Autumn 2002 RTS newsletter thanks to Maxine Aldred ( Click here to view RTS Booklet free of charge from any committee member. more news... How to use this site To navigate around this site simply click on any of the categories within the contents panel on the left side of this page. It is advisable to have your screen size set to a minimum of 800x600 and the browser maximised to full screen. This complexity of this website has been kept to a minimum to provide a user-friendly interface and to reduce the time needed to download pages. If you have any comments on, or would like to contribute to the website, please send an email to

93. RUBINSTEIN TAYBI SYNDROME : Contact A Family - For Families With Disabled Childr A description of rubinstein taybi syndrome, its inheritance pattern, psychologicaland behavoural characteristics and a support group for those living in http://www.cafamily.org.uk/Direct/r36.html

printer friendly RUBINSTEIN TAYBI SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Rubinstein Taybi syndrome: Broad Thumb-Great Toe syndrome Children with Rubinstein-Taybi syndrome (RTS) usually have normal birthweights, but subsequent growth is poor, with most children being of short stature with a small head size. Developmental delay is usual, but varies from mild to severe. The most striking physical feature is broad, sometimes angulated thumbs and first toes. The facial features vary with age and include a prominent beaked nose and downslanting eyes. Undescended testes occur in males. Other variable features include congenital heart disease and kidney abnormalities, eye and hearing problems, feeding difficulties in infancy and constipation. Seizures may occur. Most people with Rubinstein-Taybi syndrome have friendly and loving personalities. Inheritance patterns Rubinstein-Taybi syndrome, although a genetic disorder, usually affects only a single person in the family. Changes (mutations or deletions) in a gene called CREBBP located on chromosome 16 are found in a significant number of people with RTS. These changes are sometimes seen on chromosome analysis but often will require special laboratory techniques to be found. These are usually new genetic changes in just the affected person. If the parents of a child with RTS have normal chromosomes, the chance of a second affected child is small, around 1 per cent. If, however, an individual with RTS has children of their own, the chance for a similarly affected child may be as high as 50 per cent.

94. Rubinstein Taybi Syndrome Rubinstein Taybi syndrome is a rare genetic multisystem disorder that affectsmany organ systems of http://my.webmd.com/hw/health_guide_atoz/nord461.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Rubinstein Taybi Syndrome Important It is possible that the main title of the report Rubinstein Taybi Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Rubinstein syndrome RSTS Rubinstein Taybi (RTS) Broad Thumb-Hallux syndrome Michail-Matsoukas-Theodorou-Rubinstein-Taybi Syndrome Disorder Subdivisions None General Discussion Resources Children's Craniofacial Association 13140 Coit Road Suite 307 Dallas, TX 75240

95. Research With Animals At Columbia University Rubinstein Taybi syndrome. Parkinson s Disease Depression Areas of OngoingClinical Research Questions Answers For the Record Standards of Care http://cumc.columbia.edu/research/animal/alzheimers.html

CU Home CU Medical Center Home Alzheimer's Disease Slowing or preventing memory loss for 4.5 million Americans living with Alzheimer's "There has been a revolution in our understanding of neurological diseases," says Dr. Eric Kandel, a Nobel Prize winner and Distinguished University Professor of Physiology and Cell Biophysics, Psychiatry, and Biochemistry and Molecular Biophysics at Columbia. Dr. Kandel, a world-renowned expert on the brain and memory storage, explains that work with Alzheimer's and Parkinson's patients has given doctors a great anatomical understanding of human memory, and allowed them to identify the genes involved in these diseases. By recreating these gene properties in mice, researchers have been able to learn about the mechanisms controlling these diseases, and to respond to these mechanisms with treatments. Similarly, mice naturally display age-related memory loss analogous to that in humans. By observing this natural memory loss in mice, researchers see where the animal's memory storage capacity goes "wrong". Dr. Kandel's own laboratory was able to devise drugs that reversed both the cause of the memory loss and the behavior associated with memory loss in mice. Alzheimer's sufferers experience memory loss that is more sudden and traumatic than what is considered "normal," age-related loss of memory. Dr. Kandel and his colleagues are developing animal models to better understand how Alzheimer's disease attacks the brain, to isolate the related gene, and to find a way to reverse memory loss. In the future, perhaps even cell degeneration can be reversed.

96. Rubinstein Taybi Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/RUBINSTEIN TAYB

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Rubinstein taybi syndrome, (Jack Rubinstein, born 1925, American paediatrician; Hooshang Taybi, 20th century, American neurologist), a syndrome comprising short stature, facial dysmorphism, broad thumbs and a broad big toe, associated with mental and motor retardation. Radiologically, there is a short, wide terminal phalanx to the thumb ( Fig.1 ) and big toe. HC The Encyclopaedia of Medical Imaging Volume VII Rubinstein taybi syndrome, Fig. 1 Bilateral hand radiographs in an infant with Rubinstein-Taybi syndrome. Note the broad thumbs with deformed phalanges. The distal phalanx is subluxed and is broad. Corporate Products Financial Services Our Commitment ... Terms of Conditions

97. Rubinstein Taybi Syndrome Rubinstein Taybi syndrome Andrew S. Levitas, MD Cheryl S. Reid. Rubinstein Taybisyndrome (RTS), is a multiple congenital anomaly syndrome mapped to http://www.mhaspectsofdd.com/abstracts/Vol6Num4/2.htm

Psych-Media of NC, Inc. PO Box 57 Bear Creek, NC 27207 Phone: (336) 581-3700 Fax: (336) 581-3766 Email: mhdd@emji.net Rubinstein Taybi Syndrome Rubinstein Taybi syndrome (RTS), is a multiple congenital anomaly syndrome mapped to chromosome locus 16p13.3, characterized by intellectual disability, short stature, microcephaly (small head circumference), broad thumbs, broad great toes and specific dysmorphic facial features. There also appears to be a characteristic behavioral phenotype, with hyperactivity and tics in childhood and Mood Disorders and Tic/Obsessive Compulsive Disorders in adulthood. Neuroleptic induced movement disorders and neuroleptic malignant syndrome appear to occur at increased frequency in individuals exposed to these drugs. Physical, genetic and psychiatric features of the syndrome are reviewed. Ment Health Aspects Dev Disabil 2003;6(4):130-134

98. Rubinstein Taybi Syndrome Support Group - Patient UK Rubinstein Taybi syndrome Support Group Patient UK. A directory of UK health,disease, illness and related medical websites that provide patient http://www.patient.co.uk/showdoc/26739137/

Rubinstein Taybi Syndrome Support Group Appledore Cottage Knapton Dilwyn Herefordshire Tel: 01568 720 350 Web: www.rtsuk.org Web: www.rts-support.co.uk Best time to telephone: answerphone call back system operates. Rubinstein Taybi Syndrome (RTS) is a genetic disorder with a range of physical and developmental features. The common name for this condition is Broad Thumb and First Toe Syndrome. The RTS Support Group has the following aims. To offer support to families and carers. To bring about public awareness of both the Syndrome and the support group. To provide information about the condition. To raise funds for the support group. The group offers the following services. The group produces a factsheet and booklet which gives details of the syndrome. A newsletter is produced at least once a year. Social get-togethers take place twice a year. The group endeavours to put families in touch with another family with an RTS child either by locality or by telephone. Checked: September 2004 Sponsored links and adverts Patient UK has no control of the content of the following links. Inclusion does not imply endorsement by Patient UK.

99. Rubinstein Taybi Syndrome Synonyms, Eastern Carolina Rubinstein Taybi syndrome Synonyms University Health Systems of Eastern Carolinaserves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/114130.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Rubinstein Taybi Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Rubinstein Taybi Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation Rubinstein syndrome RSTS Rubinstein Taybi (RTS) Broad Thumb-Hallux syndrome Michail-Matsoukas-Theodorou-Rubinstein-Taybi Syndrome Disorder Subdivisions None General Discussion Resources Children's Craniofacial Association 13140 Coit Road Suite 307 Dallas, TX 75240 USA Tel: 2145709099 Fax: 2145708811 Tel: 8005353643 Email: csmith@ccakids.com Internet: http://www.ccakids.com FACES: The National Craniofacial Association P.O. Box 11082 Chattanooga, TN 37401

100. Rubinstein Taybi Syndrome Support Group The Rubinstein Taybi syndrome Support Group provides help, information andfriendship to families and Carers of children with Rubinstein Taybi syndrome. http://www.guide-information.org.uk/guide/search_index_detail.lasso?RecID=G7423

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