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

Program Nr: 821 Silver-Russell syndrome and cystic fibrosis caused by maternal uniparental disomy 7. U. Hehr , M. Hagemann , U. Preiss , I. Hansmann D F508, while only his mother was found to be heterozygous for D

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

Program Nr: 649 Mother to Daughter Transmission of Silver-Russell Syndrome. C.H. Jones, S. Nourbash. Dept Pediatrics, Section Gen, Loyola Univ, Maywood, IL.60153.

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

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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

Finnish Information Center on Mental Retardation English links A B C D ... Z Sabinas Brittle Hair Syndrome Brittle Hair And Mental Deficit, OMIM brittle hair-mental deficit syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndrome Sabinas brittle hair syndrome, Orphanet Salla Disease INFANTILE SIALIC ACID STORAGE DISORDER, OMIM Salla disease, U.S. National Library of Medicine Salonen-Herva-Norio Syndrome Hydrolethalus Syndrome, OMIM, Victor A. McKusick Hydrolethalus Syndrome, TheFetus.net Hydrolethalus syndrome, Orphanet, E. Robert-Gnansia Analysis of Hydrolethalus syndrome, G2D ... Hydrolethalus syndrome, Finnish Disease Database, Findis.org Sanjad-Sakati Syndrome HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD, OMIM Hypoparathyroidism, eMedicine Sao Paulo MCA/MR syndrome Sao Paulo MCA/MR syndrome, MCA/MR Syndromes, US NLM SAO PAULO MCA/MR SYNDROME, OMIM SCARF Syndrome SCARF SYNDROME, OMIM, Victor A. McKusick SCARF (skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, facial abnormalities) syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Scarf syndrome, Orphanet Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome), Koppe R, Kaplan P, Hunter A, MacMurray B, PubMed Schimke X-linked Mental Retardation Syndrome SCHIMKE X-LINKED MENTAL RETARDATION SYNDROME, OMIM

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

Maternal Chromosome 7 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

document.write(''); var hwPrint=1; var hwDocHWID="nord377"; var hwDocTitle="Russell Silver Syndrome (RSS)"; var hwRank="1"; var hwSectionHWID="nord377"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Russell Silver Syndrome (RSS) Important 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. Synonyms RSS SRS Russell Syndrome Silver Syndrome Silver-Russell Syndrome Russell-Silver Dwarfism Silver-Russell Dwarfism Disorder Subdivisions Russell-Silver Syndrome, X-linked (Partington Syndrome) Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Three M Syndrome Floating-Harbor Syndrome SHORT Syndrome Mulibrey Nanism Syndrome (Perheentupa Syndrome) Associated Congenital Disorders General Discussion 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

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 Collections under which this article appears: Genetics J Med Genet 457-460 ( June ) An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands 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 Correspondence to: Professor Preece.

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

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: Price, S M Trembath, R C Alert me when: new articles cite this article Download to Citation Manager J Med Genet 837-842 ( November ) The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria 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 Correspondence to: Dr Price.

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

Expert Reviews in Molecular Medicine: http://www.expertreviews.org/ Accession information: (02)00462-3h.htm (shortcode: tab001gml); 9 May 2002 Reprint/PDF version Back to main article Genetic diseases caused by imprinting effects in humans Megan P. Hitchins and Gudrun E. Moore Author contact details Table. 1 Genetic diseases caused by imprinting effects in humans (tab001gml) Disease MatUPD14 syndrome mUPD15; chromosomal region 15q11-13 Angelman syndrome Abbreviations: mUPD, maternal uniparental disomy; pUPD, paternal uniparental disomy. References cited in Table 1 PubMed PubMed PubMed PubMed ... Cambridge University Press ISSN 1462-3994 Editorial Office: Centre for Applied Research in Educational Technologies (CARET) , 1st Floor, 16 Mill Lane, Cambridge, CB2 1SB, UK. Tel: +44 (0)1223 765 375; Fax: +44(0)1223 765 505; E-mail: ermm@caret.cam.ac.uk

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/

@import "/css2v2.css"; National Centre for Medical Genetics Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland Skip Navigation H ome C ... ublications Silver-Russell Syndrome Background Information 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: Pre and post natal growth retardation. Cerebral haemorrhage. Feeding difficulties (at 16 months) triangular face. Downturned mouth, micrognathia (unusually small jaw). Broad high forehead. Pointed chin. Low prominent dysplastic ears. Clinodactyly (inward bending) of little fingers and toes and mild psychomotor developmental delay. 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

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Quizzes, Calculators Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Russell Silver Syndrome (RSS) Important It is possible that the main title of the report Russell Silver Syndrome (RSS) 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. Synonyms RSS SRS Russell Syndrome Silver Syndrome Silver-Russell Syndrome Russell-Silver Dwarfism Silver-Russell Dwarfism Disorder Subdivisions Russell-Silver Syndrome, X-linked (Partington Syndrome) General Discussion 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

Dictionary definition of SILVER-RUSSELL SYNDROME Browse Dictionary by alphabet A B C D ... Z Top Words SI si op. sit SI unit SI units ... sideration Synonym: Silver-Russell dwarfism. Please select first two letters of word you are looking for SA SB SC SD ... SZ fiSearchFormMaxSetId='AX006027'; Top Words sidereal siderite sidero- sideroblast ... Home Sponsored By: Vermont Hotels Virgin Islands Hotels Virginia Hotels

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

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central 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 Am J Med Genet. 2000 Mar 20;91(3):237-9. Related Articles, Links Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7. Hehr U, Dorr S, Hagemann M, Hansmann I, Preiss U, Bromme S.

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

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Full Text of this Article PDF Version of this Article Email this article to a friend Similar articles found in: Hum. Mol. Genet. Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Kobayashi, S. Ishino, F. Alert me when: new articles cite this article Download to Citation Manager ARTICLES Human PEG1/MEST, an imprinted gene on chromosome 7 S Kobayashi, T Kohda, N Miyoshi, Y Kuroiwa, K Aisaka, O Tsutsumi, T Kaneko- Ishino and F Ishino 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

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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

European Journal of Endocrinology INVITED REVIEW: Parental genomic imprinting in endocrinopathies Constantin Polychronakos and Asterios Kukuvitis References Nature Medline Nature Medline Nature Genetics Medline Nature Medline American Journal of Medical Genetics Medline Molecular Diagnosis Medline American Journal of Human Genetics Medline American Journal of Human Genetics Medline Genesis Medline American Journal of Human Genetics Medline European Journal of Human Genetics Medline Neurogenetics Medline Human Molecular Genetics Medline Journal of Medical Genetics Medline Human Molecular Genetics Medline Human Genetics Medline American Journal Human Genetics American Journal of Human Genetics Medline Human Molecular Genetics Medline Biochemical and Biophysical Research Communications Medline European Journal of Human Genetics Medline American Journal of Human Genetics Medline PNAS Medline Journal of Biological Chemistry Medline J. Biol. Chem. Journal of Clinical Investigations Nature Medline Nature Medline Nature Medline Cancer Research Medline New England Journal of Medicine Medline Diabetes Medline Human Molecular Genetics Medline Journal of Biological Chemistry Medline J. Biol. Chem.

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

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