41. Silver-Russells Syndrom - Små Och Mindre Kända Handikappgrupper Craniofacial and dental characteristics of silverrussell syndrome. Growth and symptoms in silver-russell syndrome review on the basis of 386 patients. http://www.sos.se/smkh/2001-29-128/2001-29-128.HTM

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Silver-Russells syndrom Russell-Silvers syndrom Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Databasreferenser Dokumentdatum: 2001-01-25 HTML-version 1.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik Dessutom styrks diagnosen ytterligare om barnet har: 5. Krokiga lillfingrar. Praktiska tips Resurspersoner kerstin.albertsson-wikland@pediat.gu.se

42. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/S 3); Shyness@ (55); Sickle Cell Disease@ (20); silverrussell syndrome@ (2); Sinusitis@ (31); Sitosterolemia@ (3); Sjogren s Syndrome@ (18 http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/S

Match: sort by: relevance date Free Services Subscribe by email RSS newsfeeds PDA-friendly format loc="/images/" A A A Find Jobs In: Healthcare Engineering Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail All Jobs by Job Type All Jobs by Industry Relocating? Visit: Moving Resources Moving Companies Mortgage Information Mortgage Calculator Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Conditions and Diseases S (0 links) SARS SIDS Salmonellosis San Joaquin Valley Fever ... Systemic Lupus Erythematosus News about S [ More news about S Books about S List Price: Amazon.com's Price: You Save: Prices subject to change. The Great Influenza: The Epic Story of the Deadliest Plague In History by: John M. Barry 05 February, 2004 List Price: Amazon.com's Price: You Save: Prices subject to change. How People Learn: Brain, Mind, Experience, and School: Expanded Edition by: John Bransford Ann L. Brown Rodney R. Cocking National Research Council (U.S.) Committee on Developments in the Scie ... National Research Council (U.S.) Committee on Learning Research and Ed 15 September, 2000 List Price: Amazon.com's Price:

43. BSPED Research Appeals And Recruitment Bulletin Board silverrussell syndrome. We have been working on the genetic orogin of silver-russell syndrome for some time and have narrowed down http://www.bsped.org.uk/bulletin.htm

BSPED Research Appeals And Recruitment Bulletin Board For members only: Post a new message to this page Send an urgent message to all BSPED members with eMail New DKA guidelines written to take into account the ESPE/LWPES consensus statement. Download PDF UK Genetic Resource for investigating diabetes Information for BSPED Members Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory http://www-gene.cimr.cam.ac.uk/todd/ Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory Genome Browser http://dil-gbrowse.cimr.cam.ac.uk/ UK Children's Diabetes Research Website http://www.childhood-diabetes.org.uk Audio and written information for parents of children with CAH from an ethnic minority background At the Royal Manchester Children's Hospital, we have devised written and audio information about CAH in 3 packs. For more information about these packs and for details on obtaining copies please see the information sheet. Information Sheet .pdf

44. COGNITIVE threatrelated interpretive bias. Cognitive development in silver-russell syndrome a sibling-controlled study. link This study http://mind-brain.com/abstracts.php?qa=cognitive

45. Investigation Of Microdeletions In The Regions Of Imprinted Genes On Chromosome Investigation of microdeletions in the regions of imprinted genes on chromosome 7 in patients with silverrussell syndrome and normal biparental inheritance of http://www.research-projects.unizh.ch/med/unit42200/area313/p3740.htm

research project Investigation of microdeletions in the regions of imprinted genes on chromosome 7 in patients with Silver-Russell syndrome and normal biparental inheritance of chromosomes 7 Contacts Prof. A. Schinzel (Project Leader) schinzel@medgen.unizh.ch Dr. M. Riegel (Project Leader) riegel@medgen.unizh.ch Supported By Foundation In Collaboration With PD Dr. A. Baumer Institute for Medical Genetics University of Zurich Switzerland Duration Mar 2001 to Aug 2002 Last Update Responsible Project Leader: Prof. A. Schinzel, Dr. M. Riegel Professor or Research Area Leader: Prof. Dr. Albert Schinzel Institute or Clinic: Faculty: Use the Google search engine to find descriptions of research projects For authorized person(s) only Comments to uni research page generation 22.08.2003

46. CancerGene MEST Tonoki H;Kishino T;Tanaka T;Yamada M;Tsutsumi O;Niikawa N;KanekoIshino T;Ishino F No evidence of PEG1/MEST gene mutations in silver-russell syndrome patients. http://caroll.vjf.cnrs.fr/cancergene/CG2004.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol MEST Aliases Name mesoderm specific transcript homolog (mouse); epoxide hydrolase Locus OMIM GDB SwissProt LocusLink MEST Keywords Genomic Imprinting; Protein Isoforms Diseases Breast Neoplasms Note Frequent loss of imprinting of IGF2( CG:337 ) and MEST in lung adenocarcinoma( PMID:11536368 ) and colorectal cancer ( PMID:10891541 Biallelic PEG1/MEST expression in invasive breast cancer ( PMID:12023987 Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Wang TL;Diaz LA Jr;Romans K;Bardelli A;Saha S;Galizia G;Choti M;Donehower R;Parmigiani G;Shih IeM;Iacobuzio-Donahue C;Kinzler KW;Vogelstein B;Lengauer C;Velculescu VE Digital karyotyping identifies thymidylate synthase amplification as a mechanism of resistance to 5-fluorouracil in metastatic colorectal cancer patients. (In Process Citation) Proc Natl Acad Sci U S A 2004 Mar 2;101(9):3089-94. Epub 2004 Feb 17. Moore MW;Dietz LG;Tirtorahardjo B;Cotter PD A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7.

47. MEDLINE For Gene 2004 Uniparental disomy 7 in silverrussell syndrome and primordial growth retardation. Hum Mol Genet 1995 Apr;4(4)583-7.Abstract. http://caroll.vjf.cnrs.fr/cgi-bin/Abin/Amedline.sh?&id=2004

48. Search By Disease 76 SilverRussell dwarfism. 77 silver-russell syndrome(SRS). 78 Simpson dysmorphia syndrome (SDYS). 79 Simpson-Golabi-Behmel Syndrome, Type 1 (SGBS1). http://www.eddnal.com/directory/disease.php?letter=S&page=6

49. [Frontiers In Bioscience 9, 387-403, January 1, 2004] Mouse Grb10 4.2. Human Grb10 4.3. Grb10 imprinting and silverrussell syndrome 5. Structure and function of Grb10 domains 5.1. Proline rich sequence 5.2. http://www.bioscience.org/2004/v9/af/1226/3.htm

[Frontiers in Bioscience 9, 387-403, January 1, 2004] Grb10: MORE THAN A SIMPLE ADAptor PROTEIN Mei A. Lim , Heimo Riedel , and Feng Liu Department of Pharmacology, University of Texas Health Science Center at San Antonio, San Antonio, Texas, 78229, USA, Department of Biological Sciences, Wayne State University, Detroit, Michigan, 48202, USA TABLE OF CONTENTS 1. Abstract 2. Introduction 3. Grb10 discovery, genomic structure and splice variants 4. Grb10 tissue distribution and imprinting 4.1. Mouse Grb10 4.2. Human Grb10 4.3. Grb10 imprinting and Silver-Russell Syndrome 5. Structure and function of Grb10 domains 5.1. Proline rich sequence 5.2. Pleckstrin homology (PH) domain 5.3. Src homology domain 2 (SH2) domain 5.4. Domain b etween the P H and S H2 (BPS) 6. The role of Grb10 in signaling 6.1. Interaction of Grb10 with receptor tyrosine kinases 6.1.1. Effect of Grb10 on insulin signal transduction 6.1.2. Effect of Grb10 on biological events downstream of IR/IGF-IR 6.1.3. Interaction of Grb10 with other receptor tyrosine kinases 6.2. Interaction of Grb10 with non-receptor kinases

50. Specialty Laboratories ::: We Help Doctors Help Patients A few patients with the characteristic features of silverrussell syndrome and duplication of 7p11.2-p13 have been described. 6 http://www.specialtylabs.com/books/display.asp?id=1171

51. Investigator Details Activities, The role of the insulinlike growth factors and of imprinted genes in fetal growth and development and in particular in the silver-russell syndrome. http://www.crn.ucl.ac.uk/cgi-bin/crn_investigator_details?Menu=1&PerID=31&Org=Al

52. MedlinePlus Medical Encyclopedia: Russell-Silver Syndrome Alternative names. silverrussell syndrome; Silver syndrome Definition Return to top. Rusell-Silver syndrome is a congenital disease http://www.nlm.nih.gov/medlineplus/ency/article/001209.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Russell-Silver syndrome Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Calling your health care provider Alternative names Silver-Russell syndrome; Silver syndrome Definition Return to top Rusell-Silver syndrome is a congenital disease (present at birth) characterized by short stature and, frequently, asymmetry in the size of the two halves or other parts of the body. Causes, incidence, and risk factors Return to top Genetic problems are thought to cause this syndrome, although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined, but in most cases it seems to occur without any family history of the condition. Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common. For example, a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face. Other characteristics include excessive sweating , a small triangular face that makes the skull look large by comparison, inward curving 5th fingers, and colored spots on the skin called cafe-au-lait spots Symptoms Return to top slow growth before birth short stature throughout childhood and at final height cafe-au-lait (coffee with milk) colored spots severe feeding problems in childhood (reflux disease, food aversion, failure to thrive)

53. Syndrome DB - Table Of Contents acid storage disease sialuria, Finnish type SiemensBloch pigmented dermatosis Siemerling-Creutzfeldt syndrome silver-russell syndrome (SRS) Simpson dysmorphia http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_s.html

Multiple Congenital Anomaly/Mental Retardation Syndromes Table of Contents Return to Entry Page A B C ... Z S Sabinas brittle hair syndrome Sabinas syndrome Saethre-Chotzen syndrome (SCS) salaam convulsions ... U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Last updated: 20 November 2001

54. Blackwell Synergy - Cookie Absent Paternally inherited deletion of CSH1 in a patient with silverrussell syndrome. Phenotypic and genetic analysis of the silver-russell syndrome. http://www.blackwell-synergy.com/links/doi/10.1046/j.1525-1470.2002.00230.x/full

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

55. EJHG Table Of Contents, Volume 6, Number 2 Evidence against a major role of PEG1/MEST in silverrussell syndrome. Anne M Riesewijk, Nadya Blagitko, Albert A Schinzel, Landian http://www.nature.com/ejhg/journal/v6/n2/

nature.com about npg nature science update naturejobs ... site index SEARCH my account e-alerts subscribe register ... Journal home For readers Content Advance online publication Online sample issue E-alerts ... Society publishing NPG Subject areas Access material from all our publications in your subject area: Biotechnology Cancer Chemistry Clinical Medicine ... Microbiology NEW! Molecular Cell Biology Neuroscience Pharmacology Physics March 1998, Volume 6, Number 2 Table of Contents Original paper Prenatal diagnosis in CDG1 families: beware of heterogeneity Abstract PDF Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22) Abstract PDF Evidence against a major role of PEG1/MEST in Silver Russell syndrome Abstract PDF A novel 25 bp tandem repeat within the human trefoil peptide gene in 21q22.3: polymorphism and mammalian evolution Abstract PDF Heterozygous mutation in the pore of potassium channel gene causes an apparently normal phenotype in long QT syndrome Abstract PDF germline mutations in Swedish breast cancer families Abstract PDF Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation Abstract PDF Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the gene using optimized conformation analysis protocols Abstract PDF First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q

56. References Lancet, 341, 7275. Davies, PS, Valley, R. Preece, MA (1988) Adolescent growth and pubertal progression in the silver-russell syndrome. http://www.medscape.com/content/2003/00/46/52/465282/465282_ref.html

References for: GH Treatment and Its Effect on Bone Mineral Density, Bone Maturation and Growth in Short Children Born Small for Gestational Age: 3-year Results of a Randomized, Controlled GH Trial

57. Kuner, Ruprecht - Lebenslauf Translate this page Ranke. 1997. Molecular studies in 37 silver-russell syndrome patients frequency and etiology of uniparental disomy. Hum Genet. 100 http://edoc.hu-berlin.de/dissertationen/kuner-ruprecht-2002-07-02/HTML/Kuner-vit

Kuner, Ruprecht: Identifizierung differenziell exprimieter Gene bei Brust- und Ovarialkarzinomen in den chromosomalen Regionen 1q32-q41 und 11q12-q23 Titelseite Bibliographie Anhang Danksagung ... Lebenslauf Lebenslauf Name: Ruprecht Kuner Geburtstag: Geburtsort: Stuttgart Familienstand: Verheiratet Mozart Grundschule, Neuhausen Heinrich-Heine Gymnasium, Ostfildern April 1989 Abitur Grundwehrdienst in Landsberg/Lech Jan 96 Apr 98 Publikationsliste Eggermann, T., H.A. Wollmann, R. Kuner , K. Eggermann, H. Enders, P. Kaiser, and M.B. Ranke. 1997. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet. 100:415-9. Eggermann, T., K. Eggermann, S. Mergenthaler, R. Kuner , P. Kaiser, M.B. Ranke, and H.A. Wollmann. 1998. Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. J Med Genet. 35:784-6. Prix, L., R. Kuner , C.P. Speer, G. Jahn, and K. Hamprecht. 1998. Evaluation of restriction fragment length polymorphism analysis of the UL10-UL13 genomic region for rapid identification of human cytomegalovirus strains. Eur J Clin Microbiol Infect Dis. 17:525-8. Titelseite Bibliographie Anhang Danksagung ... Lebenslauf DiML DTD Version 2.0

58. Curriculum Vitae Maternal uniparental disomy of chromosome 7 in silverrussell syndrome. (1997). Maternal uniparental disomy 7 in silver-russell syndrome. J. Med. Genet. http://www.staff.ncl.ac.uk/lee.clough/cv.html

LEE CLOUGH Dept. of Child Health, Sir James Spence Inst., RVI, Uni. of Newcastle, NE1 4LP, UK. D.O.B: 07/07/70 Marital Status: Single Sex: Male Nationality: British EDUCATION: 1995-1998: Post-Graduate - Department of Medical Genetics, University of Leicester. 1990-1993: Undergraduate - Department of Biology, University of York. 1988-1990 A-Levels - Durham New College, County Durham. QUALIFICATIONS: PhD: Department of Genetics, University of Leicester, 1999. Degree: BSc (Hons) Grade 2(i) in Genetics, University of York. A-Levels: Biology, Pure Mathematics and Statistics, Chemistry. RESEARCH EXPERIENCE: Development of the human corticospinal tract .A microarray approach to identify genes that are activated and repressed over a wide range of developmental stages and to use a functional approach to characterise genes that we identify. Characterisation of the transcription factor Brn-3c . Promoter screening and the generation of stably transformed cells lines allowed for the identification of two novel targets for Brn-3c transcriptional activation. The binding site for one of these targets was isolated and in vitro observations were confirmed within a Brn-3c knockout mouse.

59. SeqHound S., Monk,D., Stanier,P., Preece,MA and Moore,GE TITLE Investigation of the GRB2, GRB7, and CSH1 genes as candidates for the silverrussell syndrome (SRS) on http://seqhound.blueprint.org/cgi-bin/wwwseekgi?field=GI identifier&format=GenBa

60. J Med Genet -- Abstracts: Preece Et Al. 34 (1): 6 Download to Citation Manager. Journal of Medical Genetics, 1997, Vol 34, 69. ARTICLES. Maternal uniparental disomy 7 in silver-russell syndrome. http://jmg.bmjjournals.com/cgi/content/abstract/34/1/6

HOME HELP FEEDBACK SUBSCRIPTIONS ... Email this link to a friend eLetters: Submit a response to this article Similar articles found in: J Med Genet PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Preece, M. A. Moore, G. E. Alert me when: new articles cite this article Download to Citation Manager Journal of Medical Genetics, 1997, Vol 34, 6-9 ARTICLES Maternal uniparental disomy 7 in Silver-Russell syndrome MA Preece, SM Price, V Davies, L Clough, P Stanier, RC Trembath and GE Moore Institute of Child Health, University of London, UK. Silver-Russell syndrome (SRS) is characterised by intrauterine and postnatal growth failure accompanied by a variable number of dysmorphic features. It is usually sporadic although a few familial cases have been described. In a prospective study of 33 patients with sporadic SRS, we have studied the parent of origin of chromosome 7 using variable number tandem repeat (VNTR) or microsatellite repeat markers and have identified two patients with maternal uniparental disomy of chromosome 7 (mUPD7). In one

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