41. Rubinstein-Taybi Syndrome... 1995 Translate this page Titre, rubinstein-taybi syndrome. Éditeur,Mac Keith Press. Lieu, San Diego. Date, 1995. http://www.cidg.com/Filand/aw3/i/n/m004123.htm

# Mono.: M0004211)_ Cote MOUL Auteur O'Brien, Gregory Yule, William Titre Rubinstein-Taybi Syndrome Mac Keith Press Lieu San Diego Date Descripteurs Syndrome de Rubinstein-Taybi

42. Smith-Lemli-Opitz Syndrome.... 1995 Translate this page Titre/Title, rubinstein-taybi syndrome. Editeur/Editor, MacKeithPress. Lieu/Place, London, UK. Date, 1995. Collation/Series, p.165-67. http://www.cidg.com/~marienf/k/i/n/m003107.htm

# Mono.: S0002807 Cote/Call Number Auteur/Author Udwin, Orlee Dennis, Jennifer Titre/Title Smith-Lemli-Opitz Syndrome. Editeur/Editor MacKeith Press Lieu/Place London, U.K. Date Collation/Series p.183-85 Descripteurs/Descriptors Smith-Lemli-Oplitz Syndrome Phenotype comportemental Coll.: Clinics in Developmental Medicine, No 138 Demande par courrier Type de demande: < Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

43. 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

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Rubinstein-Taybi Syndrome all of Qango only this category Options Help Home Health ... R > Rubinstein-Taybi Syndrome Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... R > Rubinstein-Taybi Syndrome Suggest a Site Home Suggest a Site Search ... Login

44. RUBINSTEIN-TAYBI SYNDROME Features Listed For rubinsteintaybi syndrome. McKusick 180849. Abnormally shapedteeth; Absent/hypoplastic thymus; Agenesis/hypoplasia of corpus callosum; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1486

45. ƒRƒXƒ‚ƒX@`Rubinstein-Taybi Syndromee‚̉ï The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://cosmos.soc.or.jp/

Rubinstein-TaybiÇŒóŒQ‚̐e‚̉ï‚ɂ‚¢‚Ă̏î•ñŒöŠJ

46. Medical Equipment Medicine Pharma Directory / Index Medizintechnik Medizin Pharm rubinsteintaybi syndrome Support Group rubinstein-taybi syndrome Support Group Dublin16 Ireland, Organisation. Search for companies / organisations world-wide http://medizin.li/_mt_index/_ru/ru_000016718.html

Upcoming events/Advertisement Medical Equipment Medizintechnik Market Overviews ECG ... Erweiterte Suche Medical Directory: Search for Companies or Products World-Wide Medizin - Index: Firmen - oder Produktsuche weltweit (you must at least enter 3 characters to perform a search) Company / Firma Product / Produkt Submit / Update Neueintrag / Update Translators specializing in Medicine / Medical Equipment Informationsseiten Pflege und Pflegeversicherung German only Companies, Organisations: alphabetical list (slow) Firmen, Organisationen: Alphabetische Liste (langsam) Aa.. Ba.. Ca.. Da.. ... Aa.. - Zz.. Was wir wirklich empfehlen / What we recommend Suchmaschinen : Wenn Sie woanders nichts finden / Search engines dogpile ( English metacrawler ( English ... AGB

47. Rubinstein -Taybi Syndrome - FISH Analysis rubinsteintaybi syndrome FISH ANALYSIS. http://www.bcmgeneticlabs.org/tests/cyto/rubinstein-taybi.html

RUBINSTEIN-TAYBI SYNDROME FISH ANALYSIS The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the microdeletion of 16p associated with Rubinstein-Taybi Syndrome. Reasons for Referral: Rubinstein-Taybi syndrome is found in approximately 1/125,000 newborns and is characterized by an unusual facies, broad 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. Testing Methodology: FISH is the application of fluorescently labeled DNA molecules to metaphase chromosomes and interphase nuclei for the detection of chromosome abnormalities and alterations. It is a rapid, reliable and direct approach for identifying patients with microdeletions or microduplications. Approximately 11% of individuals with Rubinstein-Taybi syndrome have a submicroscopic deletion on the distal short arm of chromosome 16 demonstrated by FISH. Specimen Requirements: Whole blood in sodium heparin (green-top) tubes: 1.0 -2.0 CC

48. Rubinstein – Taybi Syndrome Rubinstein – taybi syndrome,, Print this article, Rubinstein – taybi syndrome,Fig. 1 Bilateral hand radiographs in an infant with rubinsteintaybi syndrome. http://www.amershamhealth.com/medcyclopaedia/Volume VII/RUBINSTEIN TAYBI SYNDRO

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required 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. Welcome to Medcyclopaedia.

49. GeneReviews: Rubinstein-Taybi Syndrome Your browser does not support HTML frames so you must view rubinsteintaybi syndromein a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/rsts

Your browser does not support HTML frames so you must view Rubinstein-Taybi Syndrome in a slightly less readable form. Please follow this link to do so.

50. Nature Publishing Group Article. FISH studies in 45 patients with rubinsteintaybi syndrome deletionsassociated with polysplenia, hypoplastic left heart and death in infancy. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v7/n7/abs/5200378a

51. Health Ency.: Disease: Rubinstein-Taybi Syndrome home Disease R rubinsteintaybi syndrome. rubinstein-taybi syndrome. Rubinstein-Taybisyndrome is a rare condition, affecting about 1 in 125,000 people. http://www.austin360.com/shared/health/adam/ency/article/001249.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease R Rubinstein-Taybi syndrome Overview Symptoms Treatment Prevention Alternative names: Rubinstein syndrome Definition: A genetic disease characterized by mental deficiency, broad thumbs and toes, short stature , and characteristic facial features. Causes and Risks Rubinstein-Taybi syndrome is a rare condition, affecting about 1 in 125,000 people. The proof of this disease being genetic was shown by discovery of mutations in, or loss of, a gene (CREBB) on chromosome 16 that rarely is inherited in an autosomal dominant manner. However, most cases are not inherited, rather they are sporadic and likely due to a new mutation affecting the patient, but not his or her parents. The classic finding is broad thumbs and great toes, but the condition is manifested by many other findings including: short stature , a peculiar face, low-set ears , port-wine-stain, undescended testicles in the male, and downward slant of the eyes. Ency. home

52. CancerGene RTS Name, rubinsteintaybi syndrome. Locus, 16p13.3. Kurosawa K;Masuno M;Imaizumi K;MatsuoM;Kuroki Y;Tachibana K Premature thelarche in rubinstein-taybi syndrome. http://caroll.vjf.cnrs.fr/cancergene/CG932.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol RTS Aliases RSTS Name Rubinstein-Taybi syndrome Locus OMIM GDB SwissProt LocusLink RTS Class DISORDER Diseases Abnormalities, Multiple; Brain Neoplasms; Cancer Susceptibility; Head and Neck Neoplasms; Medulloblastoma; Nasopharyngeal Neoplasms; Pheochromocytoma; Pilomatrixoma; Rhabdomyosarcoma; Rubinstein-Taybi Syndrome; Skin Neoplasms Note See the associated gene CREBBP ( CG:219 ) for mutations. Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Recent Articles : Kurosawa K;Masuno M;Imaizumi K;Matsuo M;Kuroki Y;Tachibana K Premature thelarche in Rubinstein-Taybi syndrome. Am J Med Genet 2002 Apr 15;109(1):72-3. Hendrich B;Bickmore W Human diseases with underlying defects in chromatin structure and modification. Hum Mol Genet 2001 Oct 1;10(20):2233-42. Murata T;Kurokawa R;Krones A;Tatsumi K;Ishii M;Taki T;Masuno M;Ohashi H;Yanagisawa M;Rosenfeld MG;Glass CK;Hayashi Y Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.

53. Connexion 1, Variation in microdeletions of the cyclic AMPresponsive element-bindingprotein gene at chromosome band 16p13.3 in the rubinstein-taybi syndrome. http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=RSTS

54. Comhairle Directory - (Rubinstein-Taybi Syndrome Support Group) Information for parents of RTS children.......rubinsteintaybi syndrome Support Group Organisation Details. CharitableNo. Keywords http://www.cidb.ie/comhairleVCS.nsf/ec03c49c232a14b5802567710047025d/caa1d4796b9

55. Rubinstein-Taybi Syndrom Resources Home Assistance Specific Disabilities rubinsteintaybi syndrome. Rubinstein-TaybiSyndrome Homepage rubinstein-taybi syndrome Site (England). http://www.specialink.com/e-curbcuts/MainCategories/Assistance/rubinstein.htm

Home Assistance Specific Disabilities Rubinstein-Taybi Syndrome Homepage ... Rubinstein-Taybi Syndrome Site (England)

56. Rubinstein-Taybi Syndrome - General Practice Notebook medical information from General Practice Notebook. rubinsteintaybi syndrome.This disorder is inherited as an X-linked dominant pattern of inheritance. http://www.gpnotebook.co.uk/cache/-1395654605.htm

Rubinstein-Taybi syndrome This disorder is inherited as an X-linked dominant pattern of inheritance. There is complete expression of this condition in males and milder features in carrier females. Click here for more information...

57. Rubinstein-Taybi Syndrome This page was closed down. The information on RubinsteinTaybiSyndrome is to cosmos. rubin@junkbox.biz http://www.ff.iij4u.or.jp/~kazz/

This page was closed down. The information on Rubinstein-Taybi Syndrome is to cosmos. rubin@junkbox.biz

58. Page Not Found rubinsteintaybi syndrome. Syndrome, rubinstein-taybi syndrome. Gene Name,CREB binding protein. Gene Symbol, CREBBP. OMIM Number of the Gene, 600140. http://www.nidr.nih.gov/cranio/detail/180849.htm

Please check to see if you entered the correct URL. If you did, it might be that the link no longer exists. As an option, you may do a search of our site. If all else fails, please fill in the form below and send it to the webmaster to report the broken link. Your Name: Email Address: Please indicate the broken URL here: Your browser doesn't support JavaScript. It will, however, affect only two minor things: it will distort the page appearance and will disable the "printer-friendly version" link. NIDCR Home Page Contact us Accessibility Privacy statement ... Search Image in banner: magnified fluoride crystal National Institute of Dental and Craniofacial Research National Institutes of Health Bethesda, MD 20892-2190 e-mail: nidcrinfo@mail.nih.gov phone: 301/496-4261 National Institutes of Health Department of Health and Human Services

59. Health Library - Rubinstein Taybi Syndrome Your Health. Search. Rubinstein Taybi Syndrome. rubinsteintaybi syndrome is a raregenetic multisystem disorder that affects many organ systems of the body. http://yourhealth.stlukesonline.org/Library/HealthGuide/IllnessConditions/topic.

60. Rubinstein-Taybi Syndrome (synonyms: Broad Thumbs And Great Toes, Characteristic rubinsteintaybi syndrome (synonyms Broad thumbs and great toes, characteristicfacies, and mental retardation - Broad thumb-hallux syndrome). http://www.john-libbey-eurotext.fr/articles/ejd/12/1/107-9/en-resum.htm

European Journal of Dermatology. Vol. 12, Issue 1, January - February 2002 Rubinstein-Taybi syndrome (synonyms: Broad thumbs and great toes, characteristic facies, and mental retardation - Broad thumb-hallux syndrome) European Journal of Dermatology. Vol. 12, Issue 1, January - February 2002: 107-9, Guess what ! Summary: Author(s): Jean KANITAKIS, Alain CLAUDY Keywords: © John Libbey Eurotext

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