81. Medizinische Genetik Translate this page A, Castellan C, Kress W, Hanauer A. Rapid immunoblot and kinase assay tests fora syndromal form of X linked mental retardation coffin-lowry syndrome. http://www.medgen.unizh.ch/Pages/Pub98.html

Angelman Syndrom Beckwith-Wiedemann Syndrom CATCH-22 Chromosomenuntersuchung cystische Fibrose FISH-Schnelltest fragiles X Syndrom Klinefelter Syndrom Myotone Dystrophie Steinert Prader-Willi Syndrom Rett Syndrom Silver-Russel Syndrom (UPD7) Subtelomer-FISH Turner Syndrom Williams Syndrom - Zytogenetik - Molekulargenetik Albright Syndrom Angelman Syndrom Bardet-Biedl Syndrom Beckwith-Wiedemann Syndrom CATCH-22 Cystische Fibrose Chorea Huntington Miller-Dieker Syndrom Myotone Dystrophie Steinert Neuralrohrdefekte Neurofibromatose Prader-Willi Syndrom Rett Syndrom Spinale Muskelatrophie Smith-Magenis Syndrom Uniparentale Disomie Williams Syndrom 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin. Clin Genet 1998;53:63-69 Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M, Michaelis RC, Abeliovich D, Schinzel AA. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet 1998; 35: 130-136 Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A. Isochromosomes 12q und 9p: parental origin and possible mechanisms of formation.

82. HUMAN_DISEASE_FLY_HOMOLOGS Hel89B, Cockayne syndrome2, late onset (2) EVALUE 3e-80, CG4261.S6kII, coffin-lowry syndrome, 303600 (3) EVALUE 1e-300, CG17596. Xpd, http://genome.med.yale.edu/fly_human/data1.html

Yellow color represents high relative levels of expression while blue represents low levels. The brightest color is three-fold or greater differential from the reference (black). Embryogenesis Larva Metamorphosis Adult Fly gene Human Disease Fly Annotation Ser Alagille syndrome, 118450 (3) EVALUE 1e-169 trx ... EVALUE 1e-158

83. Untitled Section 30 comes after this list, keep scrolling down!) conradi hunermann syndromeAase smith syndrome Angelman syndrome coffinlowry syndrome Smith-Magenis http://athena.uwindsor.ca/units/leddy/2002.nsf/HelpSubjectGuidesPsychCentralCase

84. CSH/Sjældne Handicap/Korte/Coffin-Lowry Syndrom 3391 4020. Vidensressourcer På hjemmesiden for coffinlowry SyndromeFoundation indsamles information om syndromet. Foreningen http://www.csh.dk/sjaeldne_handicap/korte/CoffinLowrySyndrom.html

Coffin-Lowry syndrom Medfødt, kønsbunden arvelig sygdom, der skyldes en genetisk fejl på et X-kromosom. Sygdommen i sin fulde form rammer kun drenge, men kvindelige anlægsbærere kan også have symptomer i mildere grad. Sygdommen viser sig allerede fra de tidlige barneår ved karakteristiske ansigtstræk (bred næse, bredtstillede øjne), tilspidsede fingre og alvorlig mental udviklingshæmning samt nogen væksthæmning. I løbet af barne- og ungdomsårene udvikles skæv ryg, ofte i svær grad. Der findes ingen specifik behandling, men understøttende fysioterapi er vigtig. Kilder Mendelian Inheritance in Man, 12th ed., no. 303600. ORPHANET (fransk database) CSH 201299 /jesh Mere viden: Undersøgelse / Vejledning: John F. Kennedy Instituttet Gl. Landevej 7 2600 Glostrup Tlf.: 43 26 01 00 Fax: 43 43 11 30 Center for Sjældne Sygdomme Århus Universitetshospital Brendstrupgårdsvej 100 8200 Århus N John Østergaard Kontakt til andre: Center for Små Handicapgruppers kontaktordning er et tilbud til mennesker med sjældne sygdomme og handicap, som ikke har en forening eller andet netværk i Danmark at henvende sig til. Via kontaktordningen tilbyder vi at formidle kontakt mellem personer eller familier, der lever med samme sjældne handicap.

85. Coffin-Lowry-Syndrom (CLS) Translate this page coffin-lowry-Syndrom (CLS). Klinik. Das coffin-lowry-Syndrom beschreibtdas gemeinsame Auftreten von mentaler Retardierung, Minderwuchs http://www.pedgen.med.uni-muenchen.de/medgen/patinfo/diagnostik/cls.html

Coffin-Lowry-Syndrom (CLS) Klinik Genetik Selten, ca. 100 Fallbeschreibungen Molekulargenetische Diagnostik Indikation: Vorliegen der oben beschriebenen Symptome Material: 5-10 ml EDTA Blut von Patienten und deren Familienmitgliedern Methodik: Indirekte Diagnostik: Haplotypanalyse Dauer: 1-2 Wochen

86. Coffin-Lowryn Oireyhtymä Kehitysvammahuollon tietopankki. Kehitysvammaisuus, poikkeavat kasvonpiirteet,paksut sormet ja kyttyräselkäisyys. coffinLowryn oireyhtymä. http://www.saunalahti.fi/kup/syndroma/coffin_l.htm

Kehitysvammahuollon tietopankki Kehitysvammaisuus, poikkeavat kasvonpiirteet, paksut sormet ja kyttyräselkäisyys Coffin-Lowryn oireyhtymä Coffin-Lowryn oireyhtymä on X-kromosomin kyhyen haaran (Xp22.2-p22.1) kautta vallitsevasti periytyvä sairaus, johon liittyy laaja oireisto. Coffin-Lowryn oireyhtymän keskeiset ominaisuudet ovat kehitysvammaisuus , leveä nenä ja eteenpäinkallistuneet sieraimet, lyhyet pulleat ja ääripäihinsä suippenevat sormet sekä harjurintaisuus. Muita piirteitä ovat leveät huulet, iso suu, paksut kulmakarvat, yläleuan vajaakasvuisuus, vinosti alaspäin kallistuneet silmäluomiraot etäällä toisistaan sijaitsevat silmät , lättäjalat, notkokaulaisuus, kyttyräkieroselkäisyys ja pienikokoisuus. Coffin-Lowryn oireyhtymän yhteydessä esiintyy myös munuaisaltaan laajentumaa, sisäelinten hermotushäiriöitä, sydämen läppävikaa, keuhkolaajentumaa ja luuston vajaakehittyneisyyttä. Niinikään oireisiin saattaa kuulua kaularangan ytimen kapeutta ja pysähtynyttä vesipäisyyttä Kehitysvammaisuus, samoin kuin muunkin oireiston esiintyminen, on vaihtelevaa. Lisätietoja: Victor A. McKusick: COFFIN-LOWRY SYNDROME; CLS, OMIM

87. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders the entire directory. Top Health Conditions and Diseases Genetic Disorders CoffinLowry syndrome (6). Sites http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Top Health Conditions and Diseases Genetic Disorders : Coffin Lowry Syndrome Sites: Coffin Lowry Syndrome - Information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Coffin-Lowry Syndrome Foundation - Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details. Missouri Southern State College - Coffin lowry syndrome, an in depth article by Terry Patterson along with some images. National Library of Medicine - Coffin-Lowry syndrome, the synonyms, a summary and major features. NORD - General information about coffin lowry syndrome, its alternative names and further resources. Reader Digest Health - General information about The Coffin-Lowry Syndrome Foundation. Last update: 8:13 PT, Saturday, May 19, 2001 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

88. Dep_IIIE Ph.D. (University Louis Pasteur, Strasbourg, France) Research topic coffinLowrysyndrome (CLS) a defect in ras/growth factors signal transduction pathway. http://www-igbmc.u-strasbg.fr/Departments/Dep_III/Dep_IIIE/Dep_IIIE2.html

MANDEL Jean-Louis , Head of Human Molecular Genetics Department. Prof. at the Faculty of Medicine, University Louis Pasteur, Strasbourg, France, (M.D., PhD.) BARDONI Barbara, post-doc fellow; Ph.D. (University of Pavia - Italy) Research topic: The FMRP (fragile X) protein and its interactors. , graduate student. DEA (University Louis Pasteur, Strasbourg, France) Research topic: Function of myotubularin and related proteins, a new family of dual protein phosphatases. Functional studies in fission yeast. BOMONT Pascale , graduate student. DEA (University Claude Bernard, Lyon, France) Research topic: Mapping and positional cloning of recessive ataxias and of giant axonal neuropathy. BUJ-BELLO Anna ; post-doc fellow; .MD. Ph.D. (University of St.Andrews, Scotland UK); Research topic: Construction of cellular and mouse models for myotubular myopathy. CAULEE Krishna , technician. BTS analyses biologiques Main expertise: Molecular cytogenetics COSSEE Mireille , graduate student, M.D. (University Louis Pasteur, Strasbourg, France) Research topic: Analysis of the frataxin gene and construction of a mouse model for Friedreich's ataxia.

89. Syndrome - C http://www.erzwiss.uni-hamburg.de/personal/hoffmann/syndrome/syn-c.html

Uni Hamburg FB Erziehungswissenschaft Institut 05 Suche ... Links S YNDROME - C Symbole: = Homepage; = Aufsatz, Artikel, Monographie; = Kurzinformation. Carpenter Syndrom Das Carpenter Syndrom Cerebralparese Cerebralparese (CP) Zerebralparese, infantile (aus dem Roche Lexikon Medizin) Chorea Huntington Chorea Huntington Deutsche Huntington Hilfe e. V. Bundesweite Selbsthilfegruppe Multiple Chemical Sensitivity (MCS) - Chronic Fatigue Syndrom (CFS) e.V. Coffin Lowry Syndrom (CLS) Coffin-Lowry-Syndrom (CLS) Congenital Disorder of Glycosylation (Carbohydrat Defizit Glycoprotein Syndrom/CDG) CDG-Verein Skandinavien CDGS Family Network Cornelia de Lange Syndrom (Brachmann Syndrom) Arbeitskreis Cornelia de Lange Syndrom Cornelia de Lange Syndrome Foundation Kirsten Parmentier: Kurzbeschreibung des Cornelia de Lange Syndroms. Creutzfeldt Jakob Syndrom The European and Allied Countries Collaborative Study Group of CJD (EUROCJD) plus the Extended European Collaborative Study Group of CJD (NEUROCJD) The UK Creutzfeldt-Jakob Disease Surveillance Unit Creutzfeldt-Jakob Disease Foundation, Inc. (USA) Creutzfeldt-Jakob-Disease (deutsch) ... Creutzfeldt-Jakob Disease (from NINDS) Cri du Chat (5p- Syndrom, Katzenschrei Syndrom) Cri-du-Chat Syndrome Support Group Cri Du Chat Syndrom - Private Infos von der Schweiz Crouzon Syndrom Crouzon Support Network Das Crouzon Syndrom Couzon Syndrome (from PEDBASE) Seitenanfang ... Links Diese Seite wurde erstellt von Thomas Hoffmann am 10. 7. 2000 (letzte Aktualisierung: 12. 12. 2001).

90. SearchUK Home Top Health Conditions_and_Diseases Genetic_Disorders CoffinLowry syndrome. ADULT (18+), SHOPPING, FINANCE, GAMBLING, JOBS, TRAVEL, http://www.searchuk.co.uk/Top/Health/Conditions_and_Diseases/Genetic_Disorders/C

SearchUK http://searchuk.co.uk/

91. Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Coffi

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Conditions and Diseases > Genetic Disorders Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

92. EnableNet - Enablenet.browse.browse There are Java script functions associated with viewing images. http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2368

93. ŠeŽíŽ¾Š³‚̃Tƒ|[ƒgƒOƒ‹[ƒv‚̏î•ñ The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://www.aichi-colony.jp/kanjakai-j.htm

ƒgƒbƒvƒy[ƒW ƒRƒƒj[ƒ‰ƒCƒuƒ‰ƒŠ[ ‰E—ñ‚͍‘ŠO‚̃TƒCƒg‚Å‚· w•ŸŽƒ‚ƏáŠQŽÒŽx‰‡î•ñ‚Ì‘–ÚŽŸx “ï•aî•ñƒZƒ“ƒ^[ u‚³‚ë‚ñvŠ³ŽÒáŠQŽÒ’c‘́^Ž©•ƒOƒ‹[ƒvƒKƒCƒh õF‘ÌŽ¾Š³ ƒ_ƒEƒ“ÇŒóŒQ ƒOƒ‹[ƒv‚½‚ñ‚Û‚Û ƒGƒ“ƒWƒFƒ‹ @iˆ¤’mŒ§j ƒsƒ ƒA @iŠò•ŒŒ§j Cri Du Chat Support Group of Australia i“Œ‹žˆã‰È‘åŠwˆâ“`Œ¤‹†Žºj Cri-du-Chat Syndrome Support Group 5p- Society ‚Q‚Q‚‘‚P‚PD‚QŒ‡Ž¸ÇŒóŒQ ‚Q‚QHeart Club ƒ^[ƒi[ÇŒóŒQAƒgƒŠƒvƒ‹XÇŒóŒQAX‰ßèÇŒóŒQ ƒgƒŠƒvƒ‹X—«iTriple X female) Tetra/Pentasomy X Support Group ƒNƒ‰ƒCƒ“ƒtƒFƒ‹ƒ^[ÇŒóŒQ ‚»‚Ì‘¼‚̐õF‘ÌŽ¾Š³A‹H­õF‘Ì‹NˆöŽ¾Š³ CDOF Chromosome Deletion Outreach UNIQUE : Rare chromosome disorders Support Groups for Chromosomal Conditions ŠeŽí‚̏njóŒQAæ“V«Ž¾Š³ ‰Ì•‘Šê(ƒ[ƒLƒƒƒbƒv)ÇŒóŒQ@iKabuki syndrome) ‰Ì•‘ŠêÇŒóŒQƒlƒbƒgƒ[ƒN Kabuki Syndrome Network ƒRƒ‹ƒlƒŠƒA@ƒf@ƒ‰ƒ“ƒQÇŒóŒQ ƒRƒ‹ƒlƒŠƒAEƒfEƒ‰ƒ“ƒQÇŒóŒQ‚̐e‚̉ï CdLS-USA Foundation National Marfan Foundation Marfan association UK ƒk[ƒiƒ“ÇŒóŒQ Noonan syndrome support group œŒ`¬•s‘SÇ Network OI Ostergenesis Imperfecta Foundation ƒvƒ‰ƒ_[ƒEƒBƒŠÇŒóŒQ Prader-Willi Syndrome Association (USA) Angelman Syndrome Foundation ƒEƒBƒŠƒAƒ€ƒYÇŒóŒQ (Williams syndrome) ƒEƒBƒŠƒAƒ€ƒY@ƒm[ƒg Williams Syndrome Association ƒRƒtƒBƒ“ƒ[ƒŠ[ÇŒóŒQ (Coffin Lowry syndrome) The Coffin-Lowry Syndrome Foundation Sotos Syndrome Support Association ƒ`ƒƒ[ƒW˜A‡@iCHARGE Association) CHARGE‚̉ï CHARGE Syndrome Foundation Minnow's CHARGE WebPage Smith-Magenis@ÇŒóŒQ PRISM Langer-GiedeonÇŒóŒQ Langer-Giedion Syndrome Association ApertÇŒóŒQ Teeter's Homepage ƒAƒCƒJƒ‹ƒfƒBÇŒóŒQiAicardi syndromej

94. æ“V«Ž¾Š³‚̃Tƒ|[ƒgƒOƒ‹[ƒvî•ñ The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://www.mirai.ne.jp/~mizuno/support-j.htm

‰E—ñ‚͍‘ŠO‚̃TƒCƒg‚Å‚· w•ŸŽƒ‚ƏáŠQŽÒŽx‰‡î•ñ‚Ì‘–ÚŽŸx MUMS National Parent-to-Parent Network u‚³‚ë‚ñvŠ³ŽÒáŠQŽÒ’c‘́^Ž©•ƒOƒ‹[ƒvƒKƒCƒh Family Village “ï•aî•ñƒZƒ“ƒ^[ National Organization for Rare Disorders (NORD) ... Special Child Magazine õF‘ÌŽ¾Š³ ƒ_ƒEƒ“ÇŒóŒQ National Down syndrome Congress ƒOƒ‹[ƒv‚½‚ñ‚Û‚Û ƒGƒ“ƒWƒFƒ‹ @iˆ¤’mŒ§j The Down Syndrome Reseach Foundation ƒsƒ ƒA @iŠò•ŒŒ§j ‚S”ԐõF‘Ì 4p- Support Gruop (Wolf-Hirschhorn Syndrome) Cri Du Chat Support Group of Australia i“Œ‹žˆã‰È‘åŠwˆâ“`Œ¤‹†Žºj Cri-du-Chat Syndrome Support Group 5p- Society ‚W”ԐõF‘Ì Trisomy 8 ‚X”ԐõF‘́@ Chromosome 9p Netwo‚’‚‹ Trisomy 9 International Parent Support ‚P‚O”ԐõF‘Ì Distal trisomy 10q families ‚P‚P”ԐõF‘Ì 11q Network i‰¢Bj@ 11q Net i•Ä‘j Int'l 11;22 translocation Network SOFT :Support Organization for Trisomy 18, 13 and Related Disorders ‚P‚U”ԐõF‘Ì Disorders of Chromosome 16 Foundation ‚P‚W”ԐõF‘Ì The Chromosome 18 Registry and Research Society ‚Q‚Q”ԐõF‘Ì ‚Q‚Q‚‘‚P‚PD‚QŒ‡Ž¸ÇŒóŒQF‚Q‚QHeart Club Parent Support Group for Chromosome 22 related disorders Chromosome 22 Central ƒ^[ƒi[ÇŒóŒQAƒgƒŠƒvƒ‹XÇŒóŒQAX‰ßèÇŒóŒQ ƒgƒŠƒvƒ‹X—«iTriple X female) Tetra/Pentasomy X Support Group ƒNƒ‰ƒCƒ“ƒtƒFƒ‹ƒ^[ÇŒóŒQ Kleinfelter Suppot Group Understanding KFS @ E ‚`‚`‚j‚r‚h‚r ¬‡«‘BˆÙŒ`¬Ç Mixed gonadal dysgenesis support group ‚»‚Ì‘¼‚̐õF‘ÌŽ¾Š³A‹H­õF‘Ì‹NˆöŽ¾Š³ CDOF Chromosome Deletion Outreach UNIQUE : Rare chromosome disorders Support Groups for Chromosomal Conditions What is a partial trisomy?

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