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Coffin Lowry Syndrome: more detail

The Official Parent's Sourcebook on Coffin-lowry Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30

Coffin-Lowry Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20

Coffin-Lowry syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Roger, MD Stevenson, 2005

lists with details

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

Extractions: 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.
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

Extractions: 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
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
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

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

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

Extractions: Symbole: = Homepage; = Aufsatz, Artikel, Monographie; = Kurzinformation. Carpenter Syndrom Cerebralparese Chorea Huntington Coffin Lowry Syndrom (CLS) Congenital Disorder of Glycosylation (Carbohydrat Defizit Glycoprotein Syndrom/CDG) Cornelia de Lange Syndrom (Brachmann Syndrom) Creutzfeldt Jakob Syndrom Cri du Chat (5p- Syndrom, Katzenschrei Syndrom) Crouzon Syndrom Seitenanfang ... Links
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
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
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
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http://www.aichi-colony.jp/kanjakai-j.htm

Extractions: gbvy[W Rj[Cu[ EñÍOÌTCgÅ· wÆáQÒxîñÌÚx ïaîñZ^[ u³ëñv³ÒáQÒcÌ^©O[vKCh õFÌ¾³ _EÇóQ O[v½ñÛÛ GWF @i¤m§j sA @iò§j Cri Du Chat Support Group of Australia iãÈåwâ`¤ºj Cri-du-Chat Syndrome Support Group 5p- Society QQPPDQ¸ÇóQ QQHeart Club ^[i[ÇóQAgvXÇóQAXßèÇóQ gvX«iTriple X female) Tetra/Pentasomy X Support Group NCtF^[ÇóQ »Ì¼ÌõFÌ¾³AHõFÌNö¾³ CDOF Chromosome Deletion Outreach UNIQUE : Rare chromosome disorders Support Groups for Chromosomal Conditions eíÌÇóQAæV«¾³ Ìê([Lbv)ÇóQ@iKabuki syndrome) ÌêÇóQlbg[N Kabuki Syndrome Network RlA@f@QÇóQ RlAEfEQÇóQÌeÌï CdLS-USA Foundation National Marfan Foundation Marfan association UK k[iÇóQ Noonan syndrome support group `¬sSÇ Network OI Ostergenesis Imperfecta Foundation v_[EBÇóQ Prader-Willi Syndrome Association (USA) Angelman Syndrome Foundation EBAYÇóQ (Williams syndrome) EBAY@m[g Williams Syndrome Association RtB[[ÇóQ (Coffin Lowry syndrome) The Coffin-Lowry Syndrome Foundation Sotos Syndrome Support Association `[WA@iCHARGE Association) CHARGEÌï CHARGE Syndrome Foundation Minnow's CHARGE WebPage Smith-Magenis@ÇóQ PRISM Langer-GiedeonÇóQ Langer-Giedion Syndrome Association ApertÇóQ Teeter's Homepage ACJfBÇóQiAicardi syndromej
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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

Extractions: EñÍOÌTCgÅ· wÆáQÒxîñÌÚx MUMS National Parent-to-Parent Network u³ëñv³ÒáQÒcÌ^©O[vKCh Family Village ïaîñZ^[ National Organization for Rare Disorders (NORD) ... Special Child Magazine õFÌ¾³ _EÇóQ National Down syndrome Congress O[v½ñÛÛ GWF @i¤m§j The Down Syndrome Reseach Foundation sA @iò§j SÔõFÌ 4p- Support Gruop (Wolf-Hirschhorn Syndrome) Cri Du Chat Support Group of Australia iãÈåwâ`¤ºj Cri-du-Chat Syndrome Support Group 5p- Society WÔõFÌ Trisomy 8 XÔõFÌ@ Chromosome 9p Netwo Trisomy 9 International Parent Support POÔõFÌ Distal trisomy 10q families PPÔõFÌ 11q Network i¢Bj@ 11q Net iÄj Int'l 11;22 translocation Network SOFT :Support Organization for Trisomy 18, 13 and Related Disorders PUÔõFÌ Disorders of Chromosome 16 Foundation PWÔõFÌ The Chromosome 18 Registry and Research Society QQÔõFÌ QQPPDQ¸ÇóQFQQHeart Club Parent Support Group for Chromosome 22 related disorders Chromosome 22 Central ^[i[ÇóQAgvXÇóQAXßèÇóQ gvX«iTriple X female) Tetra/Pentasomy X Support Group NCtF^[ÇóQ Kleinfelter Suppot Group Understanding KFS @ E ``jrhr ¬«BÙ`¬Ç Mixed gonadal dysgenesis support group »Ì¼ÌõFÌ¾³AHõFÌNö¾³ CDOF Chromosome Deletion Outreach UNIQUE : Rare chromosome disorders Support Groups for Chromosomal Conditions What is a partial trisomy?

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