Home  - Health_Conditions - Silver-russell Syndrome

Books Baby Camera Phones Computers Games DVD Electronics Kitchen Magazines Music Garden Software Tools Toys Video Apparel & Accessories Jewelry & Watches Musical Instruments Health & Personal Care Beauty Sports & Outdoors Office Products

e99.com Bookstore

Images

Newsgroups

21-40 of 94    Back | 1  | 2  | 3  | 4  | 5  | Next 20

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

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. 821: Silver-Russell Syndrome And Cystic Fibrosis Caused By Maternal Uniparental
    silverrussell syndrome and cystic fibrosis caused by maternal uniparental disomy 7. U. Hehr 1 , S. Brömme 2 , S. Dörr 1 , M. Hagemann 1 , U. Preiss 2 , I  
    http://www.faseb.org/genetics/ashg99/f821.htm

22. Program Nr 649
    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

23. :: Ez2Find :: S
    Shprintzen Syndrome (5) Shwachman Syndrome (7), ShyDrager Syndrome (3) Shyness (55) Sickle Cell Disease (20) SIDS (41) silver-russell syndrome (2) Sinusitis (31  
    http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas
    
    Extractions: Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode

24. Mental Retardation, Directory
    silverrussell syndrome. silver-russell syndrome (SRS), MCA/MR Syndromes, US NLM silver-russell syndrome; SRS, OMIM SILVER-RUSSELL  
    http://www.saunalahti.fi/kup/engl/webs_s.html

25. 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://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.

26. Russell Silver Syndrome (RSS)
    15559. ADOLESCENT GROWTH AND PUBERTAL PROGRESSION IN THE silver-russell syndrome. 130-35. COGNITIVE ABILITIES ASSOCIATED WITH THE silver-russell syndrome.  
    http://www.bchealthguide.org/kbase/nord/nord377.htm
    
    Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Other physical findings associated with this disorder may include permanent fixation of the fifth fingers in a bent position (clinodactyly); webbing of the second and third toes (syndactyly); underdevelopment (hypoplasia) of certain bones of the fingers (phalanges); development of smooth, coffee-colored patches on the skin (cafe-au-lait spots); and/or abnormalities of the kidney and urinary tract.

27. J Med Genet -- Abstracts: Preece Et Al. 36 (6): 457
    An analysis of the distribution of hetero and isodisomic regions of chromosome 7 in five mUPD7 silver-russell syndrome probands.  
    http://www.jmedgenet.com/cgi/content/abstract/36/6/457
    
    Extractions: Genetics J Med Genet 457-460 ( June ) M A Preece a b S N Abu-Amero a Z Ali a K K Abu-Amero a E L Wakeling a b P Stanier a G E Moore a a Molecular Biology Laboratory for Fetal Development, Division of Paediatrics, Obstetrics and Gynaecology, Imperial College of Science, Technology and Medicine, Queen Charlotte's and Chelsea Hospital, Goldhawk Road, London W6 OXG, UK, b Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK

28. J Med Genet -- Abstracts: Price Et Al. 36 (11): 837
    J Med Genet 1999;36837842 ( November ) The spectrum of silver-russell syndrome a clinical and molecular genetic study and new diagnostic criteria.  
    http://www.jmedgenet.com/cgi/content/abstract/36/11/837
    
    Extractions: Download to Citation Manager J Med Genet 837-842 ( November ) S M Price a , R Stanhope b , C Garrett c , M A Preece b , R C Trembath d a Child Health Directorate, Northampton General Hospital NHS Trust, Cliftonville, Northampton NN1 5BD, UK, b Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK, c The Kennedy-Galton Centre, North West Thames Regional Genetic Service, Level 8V, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK, d Department of Clinical Genetics, Leicester Royal Infirmary, Leicester LE1 5WW, UK

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

30. N.C.M.G. Ireland - Silver-Russell Syndrome Service Description.
    silverrussell syndrome. Background Information. silver-russell syndrome, also known as Russell-Silver Syndrome or RSS is a malformation  
    http://www.genetics.ie/services/srs/
    
    Extractions: @import "/css2v2.css"; Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland Skip Navigation Silver-Russell syndrome, also known as Russell-Silver Syndrome or RSS is a malformation syndrome characterised by pre- and post-natal growth retardation. While the exact aetiology of RSS is unknown, 10% of cases are due to maternal uniparental disomy of the entire chromosome 7 [mUPD(7)]; that is, the patient has inherited both copies of chromosome 7 from the mother and none from the father. If present, mUPD(7) helps to make the diagnosis and indicates a low recurrence risk. Specific clinical features of RSS include: There is some evidence to suggest that mUPD(7) patients are less likely to have the triangular face, downturned mouth and micrognathia.

31. Russell Silver Syndrome (RSS)
    subdivision(s) covered by this report. Synonyms RSS; SRS; Russell Syndrome; Silver Syndrome; silverrussell syndrome; Russell-Silver Dwarfism;  
    http://my.webmd.com/hw/health_guide_atoz/nord377.asp
    
    Extractions: Other physical findings associated with this disorder may include permanent fixation of the fifth fingers in a bent position (clinodactyly); webbing of the second and third toes (syndactyly); underdevelopment (hypoplasia) of certain bones of the fingers (phalanges); development of smooth, coffee-colored patches on the skin (cafe-au-lait spots); and/or abnormalities of the kidney and urinary tract. Most cases of Russell-Silver Syndrome are the result of new genetic changes (mutations) that occur randomly for no apparent reason (sporadic). If this mutation were to be inherited, it would do so as an autosomal dominant genetic trait. In rare cases, it is thought that the disorder may be inherited as an autosomal recessive genetic trait. In addition, a rare form of Russell-Silver Syndrome is thought to be inherited as an X-linked dominant genetic trait.

32. Dictionary Definition Of SILVER-RUSSELL SYNDROME
    Chromosome 7 Clinical table ^UNIPARENTAL DISOMY 7$ SR8, isodisomy, Edit. 9526615_1, 46, XY, upd(7)mat, silverrussell syndrome, pter, qter, 9526615, 10789928, 1, isodisomy, Edit. 9526615_2, 46  
    http://www.dictionarybarn.com/SILVERRUSSELL-SYNDROME.php

33. Russell Silver Syndrome (RSS)
    Synonyms. RSS; SRS; Russell Syndrome; Silver Syndrome; silverrussell syndrome; Russell-Silver Dwarfism; Silver-Russell Dwarfism. Disorder Subdivisions.  
    http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord377

34. Entrez PubMed
    Hum. Mol. Genet. Abstracts Kotzot et al. 4 (4) 583 Oxford University Press. ARTICLES. Uniparental disomy 7 in silverrussell syndrome and primordial growth retardation. D Kotzot, S Schmitt  
    http://www.biomedcentral.com/pubmed/10756351
    
    Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order

35. Hum. Mol. Genet. -- Abstracts: Kobayashi Et Al. 6 (5): 781
    imprinted gene mapped to human chromosome 7 and a candidate for a gene responsible for primordial growth retardation including silverrussell syndrome (SRS).  
    http://hmg.oupjournals.org/cgi/content/abstract/6/5/781
    
    Extractions: Gene Research Center, Tokyo Institute of Technology, Midori-ku, Yokohama, Japan. The mouse Peg1/Mest gene is an imprinted gene that is expressed particularly in mesodermal tissues in early embryonic stages. It was the most abundant imprinted gene among eight paternally expressed genes (Peg 1-8) isolated by a subtraction-hybridization method from a mouse embryonal cDNA library. It has been mapped to proximal mouse chromosome 6, maternal duplication of which causes early embryonic lethality. The human

36. 2003 [UK-Aachen]
    Translate this page Meyer, E., Wollmann, HA, Eggermann, T. Searching for genomic variants in the MESTIT1 transcript in silver-russell syndrome patients .  
    http://www.ukaachen.de/content/folder/1407716
    
    Extractions: Sie sind hier: Unsere Einrichtungen Institute mit Lehr- und Forschungsgebieten Institut f¼r Humangenetik Ver¶ffentlichungen Suche IHR FEEDBACK Ihr Feedback zu unserer Website AKTUELLES Aktuelles Veranstaltungen Aktuelle Meldungen ALLGEMEINES œbersicht Ihre Anreise Wir ¼ber uns Im Notfall Aktuelle Meldungen zum UKA Veranstaltungs¼bersicht Tipps f¼r eine gesunde Ern¤hrung Rund ums Universit¤tsklinikum Impressum Kontakt Webteam INFORMATIONEN FœR ... œbersicht Patienten Besucher „rzte Wissenschaftler Studierende Gesch¤ftspartner Presse UNSERE EINRICHTUNGEN œbersicht Vorstand Gesch¤ftsbereiche Logistikcenter Interdisziplin¤re Medizinische Schwerpunkte (IMS) Fachkliniken mit Lehr- und Forschungsgebieten Institute mit Lehr- und Forschungsgebieten Interdisziplin¤re Forschungsbereiche œbergreifende Funktionsbereiche Lehr- und Forschungsgebiete Fakult¤t Call Center Blutspenden am Klinikum Weitere Funktionen, Dienste und Schulen STELLENMARKT Alle Stellen „rztliche und Wissenschaftliche Dienste Medizinische und Med.-Techn. Dienste Technik / Ingenieurwesen TELEFONBUCH Elektronisches Telefonbuch Ihr Feedback Aktuelles Allgemeines Informationen f¼r ...

37. C POLYCHRONAKOS And A KUKUVITIS: Imprinting In Endocrinopathies (European Journa
    Maternal uniparental disomy 7 in silverrussell syndrome. silver-russell syndrome a dissection of the genetic aetiology and candidate chromosomal regions.  
    http://www.eje.org/eje/147/0561/eje1470561.htm

38. OMIM - SILVER-RUSSELL SYNDROME; SRS
    http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180860

39. OMIM - SILVER-RUSSELL SYNDROME; SRS
    http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=framedSynopsis&id=180860

40. Orphanet.infobiogen.fr/Site/Exp.stm?Lng=Fr Expert=813
    NORD National Organization for Rare Disorders, Inc. Silver Syndrome (RSS) Russell-Silver Dwarfism; Silver Syndrome; Silver-Russell Dwarfism; silver-russell syndrome. Disorder Subdivisions  
    http://orphanet.infobiogen.fr/Site/Exp.stm?Lng=Fr&Expert=813

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

21-40 of 94    Back | 1  | 2  | 3  | 4  | 5  | Next 20