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Silver-russell Syndrome:     more detail

Silver-Russell Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by Icon Health Publications, 2004-06-09 Growth Disorders: Achondroplasia, Dwarfism, Acromegaly, Primordial Dwarfism, Psychosocial Short Stature, Midgetville, Silver-russell Syndrome Russell-Silver syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Paul Johnson, 2005

lists with details

21. Human Genetics - UPD Maternal Chromosome 7
    Eggermann, T.;Wollmann, HA;Kuner, R.;Eggermann, K.;Enders, H.;Kaiser, P.;Ranke, MB(1997) Molecular studies in 37 silverrussell syndrome patients frequency  
    http://www.genes.uchicago.edu/upd/upd7m.html
    
    Extractions: Chromosome 7. The maternal chromosome is shown on the left. An imprinting effect is certain. Annotated UPD Reference List for Maternal Chromosome 7 Eggerding, F. A.;Schonberg, S. A.;Chehab, F. F.;Norton, M. E.;Cox, V. A.;Epstein, C. J. (1994): Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet 55( 2): 253-65 Abstract Eggermann, T.;Wollmann, H. A.;Kuner, R.;Eggermann, K.;Enders, H.;Kaiser, P.;Ranke, M. B. (1997): Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet 100( 3-4): 415-9 Abstract Kalousek, D. K.;Langlois, S.;Robinson, W. P.;Telenius, A.;Bernard, L.;Barrett, I. J.;Howard-Peebles, P. N.;Wilson, R. D. (1996): Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 65( 4): 348-52 Abstract Kotzot, D.;Schmitt, S.;Bernasconi, F.;Robinson, W. P.;Lurie, I. W.;Ilyina, H.;Mehes, K.;Hamel, B. C.;Otten, B. J.;Hergersberg, M.;et al. (1995): Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4( 4): 583-7 Abstract Langlois, S.;Yong, S. L.;Wilson, R. D.;Kwong, L. C.;Kalousek, D. K. (1995): Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.

22. Connexion
    Citations for GRB10 1, A narrow segment of maternal uniparental disomy of chromosome7q31qter in silver-russell syndrome delimits a candidate gene region.  
    http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=GRB10

23. Connexion
    Citations for RSSL 1, A narrow segment of maternal uniparental disomy of chromosome7q31qter in silver-russell syndrome delimits a candidate gene region.  
    http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=RSSL

24. Hitchins Abstract
    ANALYSIS OF THE IMPRINTING STATUS OF THE GROWTH FACTOR RECEPTOR BOUND PROTEIN 10(GRB10) A PRIME CANDIDATE FOR silverrussell syndrome M. Hitchins(1), D. Monk  
    http://www.geneimprint.com/symposia/dublin99/speakerabst/hitchins.html
    
    Extractions: Silver-Russell syndrome (SRS) is characterized primarily by intrauterine and postnatal growth restriction, triangular facies, and facial, limb or truncal asymmetry. Maternal uniparental disomy for chromosome 7 (mUPD7) has been identified in about 7% of SRS patients in our cohort (1). The recent demonstration of consistent heterodisomy for the entire chromosome 7 in a group of five mUPD7 cases indicates that altered expression of an imprinted gene (or genes) is the most likely cause of SRS is this category of patients (2). The region on human 7pl1.2-12 contains the epidermal growth factor receptor (EGFR) growth factor bound protein 10 (GRB10) and insulin-like growth factor binding proteins 1 (IGFBP1) and insulin-like growth factor binding proteins genes. This region is syntenic to proximal mouse chromosome 11, which demonstrates a growth-related imprinting phenotype. Any involvement of the

25. Monk Abstract
    DE NOVO DUPLICATION OF 7p11.2p12 IN A PATIENT WITH silver-russell syndrome ANDREPLICATION TIMING OF THE CANDIDATE GENE REGION D. Monk(1), E. Wakeling(1), V  
    http://www.geneimprint.com/symposia/dublin99/posterabsts/monk.html
    
    Extractions: 1)Division of Paediatrics, Obstetrics and Gynaecology, Imperial College School of Medicine, Queen Charlotte's and Chelsea Hospital, London, UK; (2)Division of Medical Genetics, Department of Paediatrics, Children's Hospital of the King's Daughters, 601 Children's Lane, Norfolk, Virginia 23507-1921, USA; and (3)Institute of Child Health, University College London, 30 Guilford Street, London, UK Silver-Russell Syndrome (SRS) is a congenital disorder, the two main features of which are lateral asymmetry and intrauterine growth restriction. The etiology of the syndrome is heterogeneous and there is no clearly established Mendelian basis. However, maternal uniparental disomy of chromosome 7 (mUPD7) has been demonstrated in approximately 7% of all cases (1). These findings indicate that one or more genes on chromosome 7 maybe imprinted and involved in the pathogenesis of the syndrome. We have identified a de novo duplication of 7p11.2-p12 in a patient with features characteristic of SRS. Fluorescent in situ hybridization (FISH) confirmed the presence of a tandem duplication encompassing the SRS candidate gene

26. Links On Mental Retardation
    silverrussell syndrome. silver-russell syndrome (SRS), MCA/MR Syndromes,US NLM silver-russell syndrome; SRS, OMIM SILVER-RUSSELL  
    http://www.saunalahti.fi/kup/engl/links.htm

27. Uniparental Disomy 7 Screen (Silver-Russell)
    Hum Genet 1997, 100 415419) found 10% of patients with primordial growth retardationor silver-russell syndrome had maternal UPD 7, and suggested that this  
    http://www.shodairhospital.org/uniparental disomy 7.htm
    
    Extractions: Contact Us Foundation Genetics Home ... Staff Uniparental Disomy 7 Screen (Silver-Russell) DESCRIPTION: REASONS FOR REFERRAL Appropriate testing for short stature with intrauterine growth retardation, with or without developmental delay, and of unknown cause This is a DNA test to examine tetranucleotide repeat polymorphisms on chromosome 7 in a patient and parents. Normal biparental inheritance rules out the presence of uniparental disomy in the patient. If the patient lacks alleles from one parent at informative loci, other chromosomes are examined to confirm parentage. This is not a diagnostic test for Silver-Russell syndrome This test detects or rules out one possible mechanism causing that syndrome.

28. CancerGene MEST
    Tonoki H;Kishino T;Tanaka T;Yamada M;Tsutsumi O;Niikawa N;KanekoIshino T;IshinoF No evidence of PEG1/MEST gene mutations in silver-russell syndrome patients.  
    http://caroll.vjf.cnrs.fr/cancergene/CG2004.html
    
    Extractions: 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( UI:21427474 ) and colorectal cancer ( UI:20351753 Biallelic PEG1/MEST expression in invasive breast cancer ( UI:22021352

29. Tab001gml: Genetic Diseases Caused By Imprinting Effects In Humans
    Disease, Refs. mUPD7, Silver–Russell syndrome, 76 Kotzot, D. et al. (1995) Uniparentaldisomy 7 in silverrussell syndrome and primordial growth retardation.  
    http://www-ermm.cbcu.cam.ac.uk/02004623h.htm

30. BSPED Research Appeals And Recruitment Bulletin Board
    silverrussell syndrome We have been working on the genetic orogin of Silver-Russellsyndrome for some time and have narrowed down to chromosome 7, most  
    http://www.bsped.org.uk/bulletin.htm
    
    Extractions: As the Academic Liaison Officer for the BSPED, it is my responsibility to put together a competitive bid against other constituent societies of the BES for topics for stand-alone lectures, symposia, clinical management workshops or "what would the expert do" sessions for the proposed BES meeting in 2004 which is joint with the European Federation of Endocrine Societies in Brighton. If any of you have any burning topics that you would like to see given an airing at this meeting, I would be grateful if you would email me a list of suggested speakers, titles of proposed talks and contact details so that I might pull these ideas together into a strong bid. I would be grateful for your thoughts before the middle of July. Please respond to this message as the better our ideas, the stronger the bid and the greater likelihood we will have of getting more paediatric content in future BES meetings.

31. Thread Index (1999-June)
    DYSPHAGIA Child with silverrussell syndrome, christina pruden Possiblefollow-ups ; DYSPHAGIA Child with silver-russell syndrome  
    http://www.b9.com/dysphagia/1999-June/threads.html

32. Chronological Index (1999-June)
    DYSPHAGIA Child with silverrussell syndrome, christina pruden,0. DYSPHAGIA Child with silver-russell syndrome, christina pruden,0.  
    http://www.b9.com/dysphagia/1999-June/

33. Silver-Russells Syndrom - Små Och Mindre Kända Handikappgrupper
    Craniofacial and dental characteristics of silverrussell syndrome. Growth andsymptoms in silver-russell syndrome review on the basis of 386 patients.  
    http://www.sos.se/smkh/2001-29-128/2001-29-128.HTM
    
    Extractions: 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. Orsak till sjukdomen/skadan Symtom Dessutom styrks diagnosen ytterligare om barnet har: 5. Krokiga lillfingrar. Praktiska tips Resurspersoner kerstin.albertsson-wikland@pediat.gu.se

34. 821 Silver-Russell Syndrome And Cystic Fibrosis Caused By
    silverrussell syndrome and cystic fibrosis caused by maternal uniparental disomy7. U. Hehr 1 , S. Brömme 2 , S. Dörr 1 , M. Hagemann 1 , U. Preiss 2 , I  
    http://www.faseb.org/genetics/ashg99/f821.htm

35. Untitled
    Program Nr 649 Mother to Daughter Transmission of silverrussell syndrome.CH Jones, S. Nourbash. silver-russell syndrome is of unknown etiology.  
    http://www.faseb.org/genetics/ashg00/f649.htm

36. Subject Topics
    Degeneration ShyDrager? Sickle Cell Anaemia ? Silicosis? silver-russell syndrome Silver-Russell? Sinusitis ? Skin  
    http://www.kingdoctor.com/cgi-bin/showtopic.asp?topic=S

37. C POLYCHRONAKOS And A KUKUVITIS: Imprinting In Endocrinopathies (European Journa
    Trembath RC. Maternal uniparental disomy 7 in silverrussell syndrome.Journal of Medical Genetics 1997 34 6–9 Medline. 15 Kotzot  
    http://www.eje.org/eje/147/0561/eje1470561.htm

38. Dwarfism - Short Stature
    Primordial dwarfism, Pseudoachondroplasia, Rhizomelic chondrodysplasia punctataRCP, RussellSilver syndrome silver-russell syndrome, Silver syndrome  
    http://www.kumc.edu/gec/support/dwarfism.html

39. Search By Disease
    75 silverrussell syndrome(SRS). Should you not find the disease for which youare searching, please send an email to EDDNAL eddnal@skypro.be. © EDDNAL 2002.  
    http://www.eddnal.com/directory/disease.php?letter=S&page=5

40. Trisomy 7 Mosaicism
    (1997) Molecular studies in 37 silverrussell syndrome patients frequencyand etiology of uniparental disomy. Human Genetics 100415-9. PubMed.  
    http://www.medgen.ubc.ca/wrobinson/mosaic/trisomy7.htm
    
    Extractions: chromosomal Mosaicism HOME TABLE OF CONTENTS SEARCH BACKGROUND ... GLOSSARY Chromosome specific Trisomy TRISOMY 7 MOSAICISM Complete trisomy 7 has never been reported in a liveborn child. Trisomy 7 is one of the most common aneuploidies detected on chorionic villus sampling . In general, prenatal detection of trisomy 7 is associated with a good outcome. However maternal UPD 7 is strongly associated with severe growth restriction placenta (CPM) appears to be primarily of mitotic origin, resulting from somatic duplication of chromosome 7. This explains the generally good outcome in the majority of cases. Given the mitotic origin the risk of fetal UPD 7 is low. Kalousek et al (1996) showed that CPM for trisomy 7 with biparental inheritance has no adverse effect on fetal growth. Thus, CVS alone is a poor predictor of pregnancy outcome for trisomy 7. When CVS is combined with DNA studies to reveal the origin of CPM (mitotic or meiotic) and parental origin of the chromosome 7s, a more reliable prediction for pregnancy outcome can be discussed (Kalousek et al, 1996). X Y Monosomy X Triploidy / Tetraploidy Trisomy 7 detected on CVS Sachs et al (1990) reported on 5 cases of trisomy 7 mosaicism. In these cases the percentage of abnormal cells measured on CVS direct studies ranged from 5%-68%. In all 5 cases the pregnancies resulted in a normal outcome.

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