61. Rubinstein-Taybi Syndrome - St. Joseph Mercy, Ann Arbor Michigan rubinsteintaybi syndrome - St. Joseph Mercy Health System Hospitals serving AnnArbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/15379.cfm

@import url(default.css); Online Health Information Health Information - Support Groups Back to Health Library Print This Page Email to a Friend Self Help Clearinghouse Rubinstein-Taybi Syndrome Rubinstein-Taybi Parent Group This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Rubinstein-Taybi Parent Group National network. 350 member families. Founded 1984. WRITE: Rubinstein-Taybi Parent Group c/o Garry and Lorrie Baxter P.O. Box 146 Smith Center, KS 66967 CALL: 1-888-447-2989 E-MAIL: lbaxter@ruraltel.net WEBSITE: http://www.rubinstein-taybi.org VERIFIED: 5/13/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

62. Arts - Associação Rubinstein-taybi Syndrome Translate this page A síndrome de Rubinstein-Taybi pode ser classificada como uma anomalia genética? ARTS-ASSOCIAÇO rubinstein-taybi syndrome http://www.artsbrasil.org.br/fase2/principal.asp

São Paulo, 9 de setembro de 2005 Hoje somos portadores de RTS Uma imagem vale mais que mil palavras. Leia os depoimentos que os pais fizeram sobre seus filhos. Clique aquí para busca detalhada ARTS Rua Harmonia 722/81 CEP 05435-000 São Paulo-SP Brasil arts@artsbrasil.org.br Festa Julina da ARTS / 2005 Bate-Papo semanal PARTICIPE !!! Todo Domingo 21:00 as 22:00 horas Matheus J Santos Rio de Janeiro-RJ 3 de setembro Carlos Eduardo Viira petrópolis-RJ 4 de setembro Carla D. Ramalho São Paulo-SP 4 de setembro Vinícius Hurtado São Paulo-SP 5 de setembro Carlos Edem Macapá-AP 10 de setembro Carlos Enrique Macapá-AP 10 de setembro Lívia Cel. Fabriciano-MG 25 de setembro kevim Ribeirão Pires-SP 26 de setembro Luana Lima São Paulo-SP 27 de setembro Rafael Corlotto Bento Gonçalves-RS 28 de setembro Rafael Carlotto Bento Gon çalves-RS 28 de setembro Karina C. Gonçalves Americanópolis-SP 3 de outubro Ninowska Toledo de Mula S Paulo-SP 8 de outubro Leandro Martinho 15 de outubro Clara Angelina 25 de outubro Carolina Fernanda P. Lisboa São Paulo 26 de outubro página inicial destaques arts responde bate papo ... fale conosco O conteúdo deste site não pode ser reproduzido sem prévia autorização de ARTS-ASSOCIAÇO RUBINSTEIN-TAYBI SYNDROME RTS no Mundo Alemanha Canadá Dinamarca Espanha ... Inglaterra Livro ARTSNews (PDF)

63. AllRefer Health - Rubinstein-Taybi Syndrome (Rubinstein Syndrome) rubinsteintaybi syndrome (Rubinstein Syndrome) information center covers causes,prevention, symptoms, diagnosis, treatment, incidence, risk factors, http://health.allrefer.com/health/rubinstein-taybi-syndrome-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Rubinstein Syndrome Definition Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. Polydactyly - An Infant's Hand 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.

64. AllRefer Health - Rubinstein-Taybi Syndrome (Rubinstein Syndrome) Information rubinsteintaybi syndrome (Rubinstein Syndrome) information center coversdefinition, alternative names, Overview, Causes, Risk Factors, Symptoms Signs, http://health.allrefer.com/health/rubinstein-taybi-syndrome.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Rubinstein-Taybi Syndrome Alternate Names : Rubinstein Syndrome Definition Rubinstein-Taybi syndrome is a genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. Polydactyly - An Infant's Hand Jump to a section Definition Prevention Treatment Expectations or Prognosis ... Calling Your Health Care Provider Topics that might be of interest to you Cataract Mental Retardation Ptosis Undescended Testicle Other Topics Coloboma of the Iris Eyelid Drooping Increased Head Circumference Iris ... Skeletal Limb Abnormalities From Our Sponsors: A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's

65. IngentaConnect Post-cricoid Web Associated With Rubinstein-Taybi Syndrome Postcricoid web associated with rubinstein-taybi syndrome. Authors Scott AR 1;Proops DW 1; Kunick TK 1. Source Journal of Laryngology Otology, http://www.ingentaconnect.com/content/rsm/jlo/2000/00000114/00000008/art00016

Home About Ingenta Ingenta Labs Help For Publishers Why go online? Why choose IngentaConnect? Why choose CustomConnect? Access and authentication ... Contact us For Researchers About IngentaConnect Search and browse Publications available Accessing articles ... Register For Librarians Why choose IngentaConnect? Why choose IngentaConnect Premium? Activating Subscriptions Purchasing articles ... Browse Publications Post-cricoid web associated with Rubinstein-Taybi syndrome Authors: Scott A.R. ; Proops D.W. ; Kunick T.K. Source: , Volume 114, Number 8, 1 August 2000, pp. 637-638(2) Publisher: Royal Society of Medicine Press View Table of Contents full text options Abstract: A case of dysphagia due to a post-cricoid web in a seven-year-old boy with Rubinstein-Taybi syndrome is presented. the main features of this syndrome are summarized with particular reference to dysphagia and with previous cases of post-cricoid webs in children reviewed. Keywords: LARYNGEAL CARTILAGES ESOPHAGEAL STENOSIS ... SYNDROME Language: English Document Type: Research article Affiliations: Department of Otolaryngology, Birmingham Childrens' Hospital, Birmingham, UK.

66. Faculty Of 1000 Biology | A Mouse Model Of Rubinstein-Taybi Syndrome: Defective A mouse model of rubinsteintaybi syndrome Defective long-term memory isameliorated by inhibitors of phosphodiesterase 4. Bourtchouladze R, Lidge R, http://www.facultyof1000.com/article/12930888

Subscription Info Institutional Access Free Trial F1000 walkthrough ... About F1000 A mouse model of Rubinstein-Taybi syndrome: Defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. Bourtchouladze R, Lidge R, ..., Scott R, Tully T Proc Natl Acad Sci U S A 2003 Aug 20 "This interesting paper describes the memory enhancing effects of a..." Evaluated by Faculty of 1000 Biology member Ted Abel (University of Pennsylvania, United States) To see the full evaluation, choose from the options below: Faculty of 1000 Biology Essential, rapid post-publication evaluation of the most important papers in biology by over 1900 of the world's top scientists [see a sample evaluation You can: Customize the site and receive tailored e-mail alerts [ more "This is really going to help busy scientists find the gems amongst the mounds of rubble!" Keith Roberts (John Innes Centre, UK) Personal access Existing subscribers Log in here E-mail Password Free 7 day trial Subscribe Institutional access Recommend to your librarian 80% of the world's top institutions subscribe!

67. Rubinstein-Taybi Syndrome - Patient UK rubinsteintaybi syndrome - Patient UK. A directory of UK health, disease, illnessand related medical websites that provide patient information. http://www.patient.co.uk/showdoc/40001750/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Rubinstein-Taybi syndrome A malformation syndrome characterised by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation Epidemiology Incidence 1 case per 10,000 live births Risk Factors Most cases of are sporadic, although the syndrome has been reported in monozygotic twins Presentation Facial abnormalities: hypoplastic maxilla with narrow palate, prominent beaked nose, antimongoloid eye slant, low-set/malformed ears, strabismus Digital abnormalities: broad thumbs , fingers and great toes Abnormalities of growth and development: severe mental retardation , speech difficulties, hypotonia, growth retardation Skeletal abnormalities: Patellar dislocation Skin: hirsutism, capillary nevus of the forehead Cardiovascular abnormalities, including ventricular septal defects, patent ductus arteriosus Cryptorchidism in males Mood disorders and obsessive-compulsive disorder Differential Diagnosis Other similar syndromes to consider in the diagnosis are Faciodigitogenital syndrome, Greig syndrome, Larsen syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome, Simpson-Golabi-Behmel syndrome and Weaver syndrome.

68. Disease - Rubinstein-Taybi Syndrome - Detroit, Michigan Disease rubinstein-taybi syndrome - courtesy of Henry Ford Health System ofDetroit, Michigan. http://www.henryfordhealth.org/12313.cfm

3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia 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. Rubinstein-Taybi Syndrome, Eastern Carolina rubinsteintaybi syndrome - University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties http://www.uhseast.com/117961.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Rubinstein-Taybi Syndrome This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Rubinstein-Taybi Parent Group National network. 350 member families. Founded 1984. WRITE: Rubinstein-Taybi Parent Group c/o Garry and Lorrie Baxter P.O. Box 146 Smith Center, KS 66967 CALL: 1-888-447-2989 E-MAIL: lbaxter@ruraltel.net WEBSITE: http://www.rubinstein-taybi.org VERIFIED: 5/13/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

70. MeSH-D Terms Associated To MeSH-C Term Rubinstein-Taybi Syndrome MeSHD terms associated to MeSH-C term rubinstein-taybi syndrome, G2D Home of the association of the corresponding term to rubinstein-taybi syndrome. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Rubinstein-Taybi_Syndrome:unknown

71. Health Library - rubinsteintaybi syndrome Mutual support, information sharing for parentsof children with Rubinstein Taybi syndrome. Information, phone contact http://myhealth.ucsd.edu/library/healthguide/en-us/SelfHelp/topic.asp?hwid=shc29

72. Database Search Results by the US Department of Health and Human Services. Searched keywords forrubinsteintaybi syndrome. Rubinstein-Taybi Parent Group http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Rubinstein-Taybi Synd

73. Healthfinder® - Rubinstein-Taybi Syndrome Carefully selected government and nonprofit health information on RubinsteinTaybiSyndrome. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=756

74. Healthfinder® - Rubinstein-Taybi Syndrome Carefully selected government and nonprofit health information on RubinsteinTaybiSyndrome. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=756&show=1

75. Rubinstein-Taybi Syndrome rubinsteintaybi syndrome Medical.WebEnds.com. rubinstein-taybi syndrome.Broad Thumb-Hallux Syndrome; Rubinstein Syndrome; Broad Thumb Hallux Syndrome; http://medical.webends.com/kw/Rubinstein-Taybi Syndrome

Medical.WebEnds.com - Medical Terminology Dictionary A B C D ... Z WWW Medical.WebEnds.com Rubinstein-Taybi Syndrome Broad Thumb-Hallux Syndrome; Rubinstein Syndrome; Broad Thumb Hallux Syndrome; Broad Thumb-Hallux Syndromes; Rubinstein Taybi Syndrome; Syndrome, Broad Thumb-Hallux; Syndrome, Rubinstein; Syndrome, Rubinstein-Taybi A chromosomal disorder characterized by MENTAL RETARDATION , broad thumbs, webbing of fingers and toes, beaked nose , short upper lip, pouting lower lip, agenesis of corpus callosum , large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea , and megacolon . The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). Google links Processing time was 0.046051979064941 seconds.

76. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Rare_Disorders/Rub rubinsteintaybi syndrome - A site devoted to the families and people diagnosed HealthWise Knowledgebase - An article about rubinstein-taybi syndrome, http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Rare_Disord

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Rare Disorders : Rubinstein-Taybi Syndrome Subtopics See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Musculoskeletal Disorders Health: Conditions and Diseases: Neurological Disorders: Chromosomal Search Google: Rubinstein-Taybi Syndrome News Books Links ... UF Scientist Finds Unexpected Link Between Cat And Human AIDS Viruses (September 9, 2005) full story Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005)

77. Revista Brasileira De Otorrinolaringologia - Translate this page INTRODUCTION The rubinstein-taybi syndrome was first described in 1963 when the REPORT OF CASES Five children with rubinstein-taybi syndrome were http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72992003000300019

78. Qango : Health: Diseases And Conditions: R: Rubinstein-Taybi Syndrome rubinsteintaybi syndrome, all of Qango only this category, Options Help Home Health Diseases and Conditions R rubinstein-taybi syndrome http://www.qango.com/dir/Health/Diseases_and_Conditions/R/Rubinstein-Taybi_Syndr

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79. Trisomy 13 And Rubinstein-Taybi Syndrome -- Garcia Et Al. 12 (1): 104 -- Journal Initial diagnosis of rubinsteintaybi syndrome was made in an infant with a Since, occasionally, trisomy 13 syndrome may mimic the Rubinstein-Taybi http://jmg.bmjjournals.com/cgi/content/abstract/12/1/104

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 ... Download to citation manager PubMed PubMed Citation Articles by Garcia, F. P. Articles by Gribetz, D. Journal of Medical Genetics, 1975, Vol 12, 104-105 ARTICLES Trisomy 13 and Rubinstein-Taybi syndrome FP Garcia, LY Hsu, H Fox and D Gribetz Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ears, anti- mongoloid slant of the eyes, colobomata of the iris, and cleft palate, cytogenetic studies were carried out and the diagnosis of trisomy 13 was confirmed. Since, occasionally, trisomy 13 syndrome may mimic the

80. Rubinstein-Taybi Syndrome With Deletions Of FISH Probe RT1 At 16p13.3: Two UK Pa We report two patients with rubinsteintaybi syndrome out of a total of 16 Diagnostic analysis of the rubinstein-taybi syndrome five cosmids should be http://jmg.bmjjournals.com/cgi/content/abstract/33/1/82

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 McGaughran, J. M. Articles by Donnai, D. Journal of Medical Genetics, 1996, Vol 33, 82-83 ARTICLES Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients JM McGaughran, L Gaunt, J Dore, F Petrij, HG Dauwerse and D Donnai Department of Clinical Genetics, St Mary's Hospital, Manchester, UK. We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus for Rubinstein- Taybi

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