21. Coffin Lowry coffin lowry syndrome. 4 Patient Support Information coffin lowry syndromefactsheet National Institute for Neurological Disorders and Stroke http://www.ion.ucl.ac.uk/library/patient/coffin.htm

Coffin Lowry syndrome Patient Support Information Coffin Lowry syndrome factsheet: National Institute for Neurological Disorders and Stroke Support Groups

22. Website Directory - Coffin Lowry Syndrome National Library of Medicine CoffinLowry Syndrome (CLS) NINDS Coffin LowrySyndrome Information sheet compiled by the National Institute of http://www.shapeupamerica.com/search/directory/Conditions_and_Diseases/Genetic_D

Shape up Blog Shape Up Directory Add Your Site Health Directory Addictions Aging Alternative Animal ... Genetic Disorders > Coffin Lowry Syndrome Sub-categories: None Coffin-Lowry Syndrome Foundation Information about the organization as well as CLS. Includes FAQs, news, links, parent and foundation contact details. National Library of Medicine: Coffin-Lowry Syndrome (CLS) A table showing the synonyms, a summary and major features. NINDS: Coffin Lowry Syndrome Information sheet compiled by the National Institute of Neurological Disorders and Stroke. NORD: Coffin Lowry Syndrome General information about this syndrome, its alternative names and further resources. Automated By: Website Promotion With Thanks: Hotels in York Online Degrees Web Site Hosting

23. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ NINDS coffin lowry syndrome Information sheet compiled by the National National Library of Medicine Coffin-Lowry Syndrome (CLS) - A table showing http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Coffin Lowry Syndrome Subtopics Search Google: Coffin Lowry Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF). full story Big Differences In Duplicated DNA Distinguish Chimp And Human Genomes (September 2, 2005)

24. Developmental Psychiatry coffin lowry syndrome A FAMILY STUDY OF BEHAVIOURAL CHARACTERISTICS. CoffinLowrysyndrome is an X-linked mental handicap (learning disability) syndrome http://www.psychiatry.cam.ac.uk/dev/projects_learning.htm

25. Neuroguide.com - Human Neurological Diseases coffin lowry syndrome. * Coffin Lowry Information (NINDS) Regional Pain Syndrome,Chronic Fatigue Syndrome, Clinical Trials Lists, coffin lowry syndrome http://www.neuroguide.com/cgi-bin/pdistoc.pl?file=CoffinLowrySyndrome

26. Welcome Information about the organization as well as CLS. Includes FAQs, news, links,parent and foundation contact details. http://clsfoundation.tripod.com/

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27. Coffin-Lowry Syndrome (CLS) A table showing the synonyms, a summary and major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome238.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Coffin-Lowry syndrome (CLS) Synonyms Coffin syndrome 2 Coffin-Siris-Wegienka syndrome soft hands syndrome Summary Mental and somatic retardation in association with characteristic facies, large soft hands, and various bone abnormalities. A variant syndrome consists of growth and mental retardation, nail hypoplasia, hirsutism, and coarse facies with a large mouth, macroglossia, and bushy eyebrows. Major Features Head and neck: Midfacial hypoplasia, prominent forehead, flat occiput, prominent supraorbital ridges, and mandibular prognathism with relative maxillary retrognathia, in association with ear, nose and eye anomalies give the face a characteristic appearance. Thickened calvaria, large anterior fontanel, and delayed suture closing. Ears: Prominent pinnae. Eyes: Hypertelorism, downslanting palpebral fissures, and blepharoptosis. Nose: Large nose with flared alae and broad base and elongated philtrum. Mouth and oral structures: Large mouth, thick lips, open pouting mouth, and furrowed tongue. Malocclusion, absent or abnormal permanent incisors, and frequent periodontal disease with tooth loss.

28. Coffin-Lowry, Syndrome De Fiche d'information pratique sur le syndrome de coffinlowry, description d©taill©e de la maladie, signes cliniques, autre(s) site(s) internet, type(s) de consultations adapt©es, laboratoire(s) de diagnostic, projet(s) de recherche en cours, r©seaux de professionnels, association(s) de patients. http://www.orpha.net/static/FR/coffinlowry.html

Accès à la base de données Orphanet Coffin-Lowry, syndrome de Accès direct aux détails Résumé Signes de la maladie AILES DU NEZ EPAISSES / LARGES DIAPHYSES ANOMALIE DISQUE INTERVERTEBRAL ANOMALIE DOIGTS PHALANGE DISTALE LARGE/DEVIEE FENTE PALPEBRALE ANTIMONGOLOIDE FRONT ETROIT/RETRACTION TEMPORALE HYPERTELORISME LEVRE INFERIEURE EVERSEE/TOMBANTE LEVRES EPAISSES LEVRES PROEMINENTES NARINES ANTEVERSEES NEZ LARGE/ARETE NASALE LARGE PETITE TAILLE / NANISME RACINE DU NEZ LARGE REBORD ORBITAIRE SAILLANT RETARD MENTAL SEVERE SCOLIOSE TRANSMISSION AUTOSOMIQUE DOMINANTE ANODONTIE/OLIGODONTIE ANOMALIE DU COU ET CAGE THORACIQUE CRANE:VOUTE EPAISSIE/DENSITE AUGMENTEE DENTS MAL IMPLANTEES HYPERLAXITE LIGAMENTAIRE MACROCEPHALIE MICRODONTIE TOTALE OU PARTIELLE ONGLES ABSENTS / PETITS (MAINS) PALAIS OGIVAL/ETROIT POMMETTES PLATES/MALAIRE HYPOPLASIE PROGNATHISME RETARD MENTAL MODERE / LEGER AGE OSSEUX RETARD CYPHOSE MICROCEPHALIE PECTUS EXCAVATUM PHILTRUM LONG Mise à jour : 04/09/2005 Accès à la base de données Orphanet

29. Coffin-Lowry Syndrome Foundation Welcome Page The coffinlowry syndrome Foundation Web Site has moved. The new location ishttp//www.clsf.info. Thank you for your patience. http://clsfoundation.tripod.com/Welcome.htm

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30. Introduction: Coffin-Lowry Syndrome - WrongDiagnosis.com Introduction to coffinlowry syndrome as a medical condition including symptoms,diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/c/coffin_lowry_syndrome/intro.htm

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Coffin-Lowry syndrome Next sections Basic Summary for Coffin-Lowry syndrome Prevalence and Incidence of Coffin-Lowry syndrome Prognosis of Coffin-Lowry syndrome Causes of Coffin-Lowry syndrome ... Symptoms of Coffin-Lowry syndrome Next chapters: Coma Persistent Vegetative State Corticobasal Degeneration Cytomegalic Inclusion Body Disease ... Feedback Introduction: Coffin-Lowry syndrome Coffin-Lowry syndrome: Rare genetic condition causing various abnormalities. Coffin-Lowry syndrome: Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, mental retardation, short stature, and hypotonia. Researching symptoms of Coffin-Lowry syndrome: Further information about the symptoms of Coffin-Lowry syndrome is available including a list of symptoms of Coffin-Lowry syndrome , or alternatively return to research other symptoms in the symptom center Treatments for Coffin-Lowry syndrome: Various information is available about treatments available for Coffin-Lowry syndrome , or research treatments for other diseases.

31. Symptoms Of Coffin-Lowry Syndrome - WrongDiagnosis.com Symptoms of coffinlowry syndrome including signs, symptoms, incubation period,duration, and correct diagnosis. http://www.wrongdiagnosis.com/c/coffin_lowry_syndrome/symptoms.htm

Home Symptoms Diseases Risks ... Coffin-Lowry syndrome Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Coffin-Lowry syndrome Next sections Inheritance and Genetics of Coffin-Lowry syndrome Treatments for Coffin-Lowry syndrome Statistics about Coffin-Lowry syndrome Statistics by Country for Coffin-Lowry syndrome ... Articles about Coffin-Lowry syndrome Next chapters: Coma Persistent Vegetative State Corticobasal Degeneration Cytomegalic Inclusion Body Disease ... Feedback Symptoms of Coffin-Lowry syndrome General information about symptoms of Coffin-Lowry syndrome: The symptom information on this page attempts to provide a list of some possible symptoms of Coffin-Lowry syndrome. This symptom information has been gathered from various sources, may not be fully accurate, and may not be the full list of symptoms of Coffin-Lowry syndrome. Furthermore, symptoms of Coffin-Lowry syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of symptoms and whether they are indeed symptoms of Coffin-Lowry syndrome. List of symptoms of Coffin-Lowry syndrome: The list of symptoms mentioned in various sources for Coffin-Lowry syndrome includes: Craniofacial abnormalities Underdeveloped upper jaw bone (maxillary hypoplasia) Abnormally prominent brow Downslanting eyelid folds (palpebral fissures) ... Short, tapered fingers

32. Coffin-Lowry Syndrome / Family Village Library Web Sites * Search Google for coffinlowry syndrome . Who to Contact. coffin-lowrysyndrome Foundation (CLSF) Mary Hoffman 3045 255th Avenue SE http://www.familyvillage.wisc.edu/lib_cls.htm

Coffin-Lowry Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Coffin-Lowry Syndrome" Who to Contact Coffin-Lowry Syndrome Foundation (CLSF) Mary Hoffman 3045 255th Avenue S.E. Sammamish, WA 98075 425-427-0939 Call after 5 pm PST or on weekends E-mail: CLSFoundation@yahoo.com Website: http://www.clsf.info/ CLSF serves as a clearinghouse for information on CLS and as a general forum for exchanging experiences, advice and information with other CLS families. The Foundation seeks to become a visible group in the medical, scientific, educational and professional communities in order to facilitate referrals of newly diagnosed individuals, and to encourage medical and behavioral research aimed at finding the cause of CLS in order to improve methods of social integration of CLS individuals. CLS has a parent-to-parent matching program and will match families geographically or based on similar concerns such as scoliosis or other health problems. Where to Go to Chat with Others CLS Foundation The purpose of this Group site is to provide families affected by Coffin-Lowry syndrome a forum in which to exchange information, ideas, pictures, anecdotes and advice.

33. BIBLIOGRAPHIE Cataplexy and muscle ultrasound abnormalities in coffinlowry syndrome. The coffin-lowry syndrome Experience from four centres. http://alsace.u-strasbg.fr/chimbio/diag/coffin/biblio/

laboratoire du Professeur Jean-Louis MANDEL du Professeur Charles SCHWARTZ du " GREENWOOD GENETICS CENTER " GREENWOOD USA BIBLIOGRAPHIE ID. Publication Abstract Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz CE. Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). Eur. J. Hum. Genet. (1999) 7: 20-26. Biancalana V., Briard ML., David A., Gilgenkrantz S., Kaplan J., Mathieu M., Piussan Ch., Poncin J., Shinzel A., Oudet C., Hanauer A Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. Am. J. Hum Gen. (1992) 50:981-987. Biancalana V, Trivier E, Weber C, Weissenbach J, Rowe PSN, O'Riordan JLH, Partington MW, Heyberger S, Oudet C, Hanauer A. Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene. Genomics (1994) 22:617-625. Bird H, Collins AL, Oley C, Lindsay S. Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22. Am J Med Genet (1995) 59:512-516 SEQ Bjorbaek C, Vik TA, Echwald SM, Yang PY, Vestergaard H, Wang JP, Webb GC, Richmond K, Hansen T, Erikson RL, Gabor Miklos GL, Cohen PTW, Pederson O. Cloning of a human insulin-stimulated protein kinase (ISPK-1) gene and analysis of coding regions and mRNA levels of the ISPK-1 and the protein phosphatase-1 genes in muscle from NIDDM patients. Diabetes (1995) 44; 90-97.

34. Coffin-Lowry Syndrome coffinlowry syndrome information and resources, genetic information, support groups. http://www.kumc.edu/gec/support/coffin_l.html

Coffin-Lowry syndrome Coffin-Lowry Syndrome Foundation c/o Mary Hoffman 3045 255th Avenue S.E. Sammamish, WA 98075 Phone: 425-427-0939 after 5:30 p.m. weekdays PST or weekends E-mail: CLSFoundation@yahoo.com Web Site: http://clsfoundation.tripod.com Also See: National organizations , information on genetic conditions or birth defects To locate a genetic counselor or clinical geneticist: National Society of Genetic Counselors ResourceLink Professional Genetics Societies Genetic clinics, centers, departments Revised April 6, 2001 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites) of the Health On the Net Foundation

35. Coffin-Lowry Syndrome - Genetics Home Reference Where can I find additional information about coffinlowry syndrome? coffin-lowry syndrome is a condition associated with mental retardation and delayed http://ghr.nlm.nih.gov/condition=coffinlowrysyndrome

Home What's New Browse Handbook ... Search Coffin-Lowry syndrome Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog References Coffin-Lowry syndrome On this page: What is Coffin-Lowry syndrome? How common is Coffin-Lowry syndrome? ... help with understanding Coffin-Lowry syndrome? What is Coffin-Lowry syndrome? Coffin-Lowry syndrome is a condition associated with mental retardation and delayed development, short stature, and skeletal abnormalities. Distinctive facial features (including wide-spaced and downward-slanting eyes, a short nose with a wide tip, and full lips) and soft hands with short, tapered fingers are also characteristic of this condition. Males are usually more severely affected than females, but the signs and symptoms of Coffin-Lowry syndrome range from very mild to severe in affected women. How common is Coffin-Lowry syndrome?

36. Entrez PubMed coffinlowry syndrome (CLS) is a rare but well-documented X-linked disordercharacterized by small size, developmental delay/mental retardation, http://ghr.nlm.nih.gov/condition=coffinlowrysyndrome/show/PubMed

My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez 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 Mobile NLM Catalog NLM Gateway ... PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 24 Review: 7 Items 1 - 20 of 24 of 2 Next Facher JJ, Regier EJ, Jacobs GH, Siwik E, Delaunoy JP, Robin NH.

37. WebMD With AOL Health - Coffin-Lowry Syndrome International network. Founded 1991. Serves as a clearinghouse for informationon coffin - lowry syndrome. http://aolsvc.health.webmd.aol.com/hw/raising_a_family/shc29cof.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Thursday, September 08, 2005 WebMD Main Condition Centers Medical Library Health Tools ... The Coffin-Lowry Syndrome Foundation Coffin-Lowry Syndrome The Coffin-Lowry Syndrome Foundation International network. Founded 1991. Serves as a clearinghouse for information on Coffin-Lowry syndrome. Forum for exchanging experiences, advice and information with other CLS families. Seeks to become a visible group in the medical, scientific, educational, and professional communities in order to facilitate referrals of newly diagnosed individuals, and to encourage medical and behavioral research in order to improve methods of social integration of CLS individuals. Maintains mailing list of families and professionals. Provides newsletter, family support, informational packet. WRITE: CLS Fdn. c/o Mary C. Hoffman 3045 255th Avenue S.E. Sammamish, WA 98075 CALL: 425-427-0939 after 5:30pm PST E-MAIL: clsfoundation@yahoo.com WEBSITE: http://clsf.info Group Discussion - http://groups.yahoo.com/group/clsfoundation/

38. CLS - Coffin-Lowry Syndrome Mutations in the kinase Rsk2 associated with coffin-lowry syndrome. We haveidentified a coffin-lowry syndrome pedigree where the disorder is http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/87263.html

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome Abstract-794955 Recently, mutations in the Rsk-2 gene have been associated with the Coffin-Lowry syndrome (CLS). Abstract-1610411 2. Recently, mutations in the ribosomal S6 kinase ( Rsk-2 ) gene were shown to be associated with CLS Abstract-1824198 We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation in the gene, leading to in-phase skipping of exon 5. Abstract-1751172 RSK-2 mutations in humans are linked to Coffin-Lowry syndrome (CLS). Abstract-1942153 Fibroblasts derived from a CLS patient failed to exhibit EGF- stimulated phosphorylation of , although was phosphorylated during mitosis. Abstract-1942153 In the present study, using cells from a patient with Coffin-Lowry syndrome (deficient in ), we demonstrate that slightly represses activation of in vivo at 37 degrees C. In Coffin-Lowry syndrome cells, HSF1-HSE DNA binding activity after treatment with

39. Cognitive Impairment In Coffin-Lowry Syndrome Correlates With Reduced RSK2 Activ Cognitive impairment in coffinlowry syndrome correlates with reduced RSK2 Patients with the X-linked disorder coffin-lowry syndrome ( CLS) have http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/8697455.html

Cognitive impairment in Coffin-Lowry syndrome correlates with reduced activation.BACKGROUND: Gene expression and protein synthesis, mediated by the transcription factor CREB cAMP response element binding protein ), play an important role in learning and memory in several species, including Drosophila, snails, and mice. Patients with the X-linked disorder Coffin-Lowry syndrome CLS ) have cognitive disabilities, distinctive features, and bony abnormalities as well as mutations in RSK2 (ribosomal S6 kinase-2), a protein kinase that activates CREB by phosphorylation at serine 133. In fibroblasts from a single patient with CLS , epidermal growth factor (EGF)-stimulated CREB phosphorylation was reduced. METHODS: The authors assessed endogenous CREB phosphorylation in a CLS fibroblast line by Western blotting and found impaired CREB phosphorylation in response to stimulation by EGF and the protein kinase C PKC ) agonist phorbol 12-myristate 13-acetate (PMA).

40. Coffin-Lowry Syndrome (www.whonamedit.com) coffinlowry syndrome A familial syndrome characterised by dwarfism and severemental retardation, muscle weakness, unusual prominence of the breastbone, http://www.whonamedit.com/synd.cfm/3425.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Coffin-Lowry syndrome Also known as: Coffin’s syndrome Coffin-Siris-Wegienka syndrome Lowry’s syndrome Synonyms: Soft hands syndrome. Associated persons: Grange S. Coffin Robert Brian Lowry Evelyn Siris Laurence C. Wegienka Description: We thank Pavlo Milan for information submitted. Bibliography: G. S. Coffin, E. Siris, L. C. Wegienka: Mental retardation with osteocartilaginous anomalies. American Journal of Diseases of Children, Chicago, 1966; 112: 205-213. R. B. Lowry, J. R. Miller, F. C. Fraser:

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