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

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.

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

ANALYSIS OF THE IMPRINTING STATUS OF THE GROWTH FACTOR RECEPTOR BOUND PROTEIN 10 (GRB10) : A PRIME CANDIDATE FOR SILVER-RUSSELL SYNDROME M. Hitchins( 1), D. Monk(1), E. Wakeling(1), P. Stanier(1), M. Preece(2), G. Moore(1) (1)Division of Paediatrics, Obstetrics and Gynaecology, Imperial College School of Medicine, Queen Charlotte's and Chelsea Hospital, Goldhawk Road, London, UK; and (2)Institute of Child Health, University College London, 30 Guilford Street, London, UK 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

DE NOVO DUPLICATION OF 7p11.2-p12 IN A PATIENT WITH SILVER-RUSSELL SYNDROME AND REPLICATION TIMING OF THE CANDIDATE GENE REGION D. Monk (1), E. Wakeling(1), V. Proud(2), M. Hitchins(1), P. Stanier(1), M. Preece(3), G. Moore(1) 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

Finnish Information Center on Mental Retardation (in Finnish) English Links on Mental Retardation A B C D ... Z Aarskog Syndrome Pediatric Database OMIM Database ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, OMIM Acrodysostosis (Arkless-Graham syndrome) acrodysostosis, MCA/MR Syndromes, US NLM Acrodysostosis, UNIVERSITY OF MARYLAND MEDICINE ACRODYSOSTOSIS, OMIM Acrodysostosis, NORD ... Acrodysostosis, Orphanet Aphasia The Family Village Library, Aphasia Page What is Aphasia? AGU Syndrome, Aspartylglucosaminuria ASPARTYLGLUCOSAMINURIA; AGU (OMIM) aspartylglycosaminuria, U.S. National Library of Medicine Alagille Syndrome Alagille syndrome (AGS), U.S. National Library of Medicine ALAGILLE SYNDROME; AGS, OMIM The Official Alagille Syndrome Alliance Worldwide Web Site Alagille Syndrome, GeneClinics Web site Allan-Herndon Syndrome OMIM, MENTAL RETARDATION, X-LINKED, WITH HYPOTONIA Alopecia-Mental Retardation (AMR) Syndrome ALOPECIA-MENTAL RETARDATION SYNDROME, OMIM alopecia-mental retardation (AMR) syndrome, MCA/MR Syndromes, US NLM Alopecia mental retardation syndrome, Orphanet Alternating hemiplegia of childhood Omim Database, Alternating hemiplegia of childhood

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

Contact Us Foundation Genetics Home ... Staff Uniparental Disomy 7 Screen (Silver-Russell) DESCRIPTION: Recent studies (Kotzot et al., Hum Mol Gen 1995, 4: 583-587; Eggermann et al. Hum Genet 1997, 100: 415-419) found 10% of patients with primordial growth retardation or Silver-Russell syndrome had maternal UPD 7, and suggested that this high incidence justifies an investigation of UPD 7 in these patients. 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

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( UI:21427474 ) and colorectal cancer ( UI:20351753 Biallelic PEG1/MEST expression in invasive breast cancer ( UI:22021352 Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Pedersen IS;Dervan P;McGoldrick A;Harrison M;Ponchel F;Speirs V;Isaacs JD;Gorey T;McCann A Promoter switch: a novel mechanism causing biallelic PEG1/MEST expression in invasive breast cancer. Hum Mol Genet 2002 Jun 1;11(12):1449-53. Kobayashi S;Uemura H;Kohda T;Nagai T;Chinen Y;Naritomi K;Kinoshita EI;Ohashi H;Imaizumi K;Tsukahara M;Sugio Y;Tonoki H;Kishino T;Tanaka T;Yamada M;Tsutsumi O;Niikawa N;Kaneko-Ishino T;Ishino F No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. Am J Med Genet 2001 Dec 1;104(3):225-31.

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

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. 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

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 TOPICS FOR BES 2004 Dear Colleague, 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. Best wishes Dr John Gregory email: gregoryjw@cardiff.ac.uk

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

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

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

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

Dwarfism / Short Stature (Skeletal Dysplasias, Achondroplasia, Jeune Syndrome constitutional delay , other conditions) Organizations Clinics International Specific Syndromes ... Little People of America (LPA) , Inc. P.O. Box 745, Lubbock, TX 79408 E-mail: LPADataBase@juno.com Web Site: www.lpaonline.org Little People of America Teen Page, Books Organization Links Types of Dwarfism and Definitions LPA Parents' Forum (not currently active, web only), Mayeux family, jmayeux@gte.net LPA Parents' Committee - Rob and Betty Jacobsen, 3010 Olympia Way, Longview, WA 98632, Voice: 360.636.0276, BBS/fax: 360.578.1948, E-mail: jacobsen@aone.com Frequently Asked Questions Languages: English, Spanish dwarfism.org Billy Barty Foundation, Inc. 929 W Olive Avenue, Suite C, Burbank, CA 91506 Phone: (818) 953-5410 Fax: (818) 953-7129 Web site: www.rth.org/bbf/ Educational and lobbying for individuals with dwarfism Human Growth Foundation 7777 Leesburg Pike (P.O. Box 309), Falls Church, VA 22043 Phone: (800) 451-6434 or (703) 883-1773 Fax: (703) 883-1776 Supports basic clinical research pertaining to growth disorders. Disseminates information. Encourages development of local parent support groups. Oversees a grant research program

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

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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