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Rubinstein-taybi Syndrome: more detail

Dysostoses: Syndrome D'apert, Syndrome de Rubinstein-Taybi, Syndrome Oro-Facio-Digital Type 1, Syndrome de Greig, Syndrome de Pfeiffer (French Edition)
Rubinstein-Taybi syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Java, MS Solis, 2005
Rubinstein-Taybi Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
Cornelia de lange syndrome / maple syrup urine disease / Rubinstein-Taybi syndrome: behavior issues, activities, and conclusions.: An article from: Palaestra by Robert C. Weber, 2006-03-22
Consanguineous Marriages in the American Population by George B. Louis Arner, 2010-08-10

lists with details

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

Extractions: @import url(default.css); Online Health Information Back to Health Library Print This Page Email to a Friend 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. National network. 350 member families. Founded 1984. 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
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
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

Extractions: 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 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.
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

Extractions: 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
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

Extractions: For Researchers For Librarians 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.
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
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/

Extractions: 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. A malformation syndrome characterised by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation Epidemiology Risk Factors Most cases of are sporadic, although the syndrome has been reported in monozygotic twins Presentation 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.
Disease - Rubinstein-Taybi Syndrome - Detroit, Michigan
Disease rubinstein-taybi syndrome - courtesy of Henry Ford Health System ofDetroit, Michigan.
http://www.henryfordhealth.org/12313.cfm

Extractions: 3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Back to main Health Information page 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
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

Extractions: Information about national and local self-help organizations and support groups. 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. National network. 350 member families. Founded 1984. 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
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
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
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
Healthfinder® - Rubinstein-Taybi Syndrome
Carefully selected government and nonprofit health information on RubinsteinTaybiSyndrome.
http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=756
Healthfinder® - Rubinstein-Taybi Syndrome
Carefully selected government and nonprofit health information on RubinsteinTaybiSyndrome.
http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=756&show=1
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

Extractions: WWW Medical.WebEnds.com 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).
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

Extractions: Text Size A A A Front Page ... Rare Disorders : Rubinstein-Taybi Syndrome 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)
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
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
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

Extractions: 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 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
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

Extractions: 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 JM McGaughran, L Gaunt, J Dore, F Petrij, HG Dauwerse and D Donnai

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