21. New Page 1 Welcome to the Share and Care cockayne syndrome Network, Inc. http//www.cockaynesyndrome.org.To View the Original Web Site, click Here. http://www.kimbanet.com/~cockayne/

Welcome to the Share and Care Cockayne Syndrome Network, Inc. To View the New Web Site, go to: http://www.cockayne-syndrome.org To View the Original Web Site, click Here

22. Welcome To TheShare And Care Cockayne Syndrome Network Welcome to the Share and Care cockayne syndrome Network, Inc. HomePage What is CS? Support Group Testing Research Spanish http://www.kimbanet.com/~cockayne/homepage.htm

Welcome to the Share and Care Cockayne Syndrome Network, Inc. Home Page What is CS? Support Group Spanish Information German Information Teresa V. Wall, Coordinator Contact me at: cockayne@kimbanet.com This Web site is dedicated to the memory of my daughter, Candice Lynne Wall. You are visitor number to our Web site. Last updated: January 31, 2002

23. Cockayne Syndrome cockayne syndrome. cockayne syndrome is a rare genetic disorder characterizedby a host of developmental problems including extremely http://www.biochemistry.ucla.edu/biochem/Faculty/Martinson/Cockayne.html

Cockayne syndrome Cockayne syndrome is a rare genetic disorder characterized by a host of developmental problems including extremely short stature, premature aging, and extreme sensitivity to sunlight. The genetic defects responsible for this condition map to two genes, CSA and CSB , which code for proteins that are elongation factors. It is not yet known how the molecular defects in CSA and CSB give rise to the distinguishing clinical features of this disease. Back to Research Return to Home Page

24. Cockayne Syndrome - The Knowledge Database Of The Swedish National Board Of Heal cockayne syndrome. To the Swedish version cockayne syndrome type 1. In thisform, the classic type, the child develops normally for the first year. http://www.sos.se/smkh/2002-110-6/2002-110-6.htm

Socialstyrelsen 106 30 Stockholm e-post With effect from 2001, the National Board of Health and Welfare classifies its publications into various types of document. This an Overview of Knowledge . That means that the report is based on science and/or proven experience. Overviews of knowledge among other things are to provide support for knowledge-based care and treatment, method development and other improvement work, encourage and facilitate quality follow-up and/or encourage efficient utilisation of resources. The National Board of Health and Welfare is responsible for the contents and conclusions. Cockayne Syndrome Table of Contents The disease/injury/diagnosis Incidence Aetiology of the disease/injury Heredity ... Database references Document date: 2002-04-29 Version 1.1 Article number: 2002-110-6 English index Search The aphabetical list This is an excerpt from the knowledge database of the Swedish National Board of Health and Welfare on rare diseases. The concept of "rare diseases" is defined as: "Disorders or injuries resulting in extensive handicaps and affecting no more than 100 individuals in one million inhabitants". The ambition underlying the database is to provide up-to-date information on rare diseases and about the support and services these groups of people require. The disease/injury/diagnosis Cockayne Syndrome was named after Edward Alfred Cockayne (1880-1956), a dermatologist in England and a specialist in paediatric illnesses, particularly hereditary illnesses. Characteristic features in Cockayne Syndrome are: short stature, a particular appearance of premature ageing, balance difficulties (ataxia), visual problems (retinopathy and/or cataracts), progressive hearing loss, peripheral nerve damage, hypersensitivity to sunlight, and mental deficiency.

25. Weber-Cockayne Syndrome (www.whonamedit.com) Webercockayne syndrome A form of epidermolysis bullosa. Also known asCockayne-Touraine syndrome. Who named it? Weber-cockayne syndrome http://www.whonamedit.com/synd.cfm/1183.html

Home List categories Eponyms A-Z Biographies by country ... Contact Weber-Cockayne syndrome Also known as: Cockayne-Touraine syndrome Synonyms: Acanthosis bullosa, epidermolysis bullosa; epidermolysis bullosa simplex Weber-Cockayne, simplex aestivalis; hand-feet epidermolysis bullosa syndrome, hyperplastic epidermolysis bullosa, localized epidermolysis bullosa syndrome. Associated persons: Edward Alfred Cockayne Albert Touraine Frederick Parkes Weber Description: A form of epidermolysis bullosa. Consists of recurrent, noninflammatory bullous eruptions mainly on the feet, less prominently on the hands. Onset after mechanically induced trauma (blisters) in early childhood, but also in adult age, especially in warm season. Both sexes affected. Sharp pain when bullae rupture. Heals without residual scarring or other changes, such as thickening of the skin. They are occasionally associated with hyperhidrosis. Autosomal dominant or recessive inheritance. Warm weather, irritation, pressure, and moisture appear to be factors in the production of the syndrome. Probably a mildly pronounced form of the generalised Epidermolysis bullosa simplex Koebner. Aetiology unknown. Autosomal dominant inheritance. Familial cases have been reported.

26. Nature Publishing Group DNA repair The bases for cockayne syndrome PHILIP C. HANAWALT. This disease — likecockayne syndrome — is characterized by severe sensitivity to sunlight. http://www.nature.com/cgi-taf/DynaPage.taf?file=/nature/journal/v405/n6785/full/

27. Nature Publishing Group ERROR, There has been an error while processing your request. In mostcases, this is an isolated incident that can be overcome by http://www.nature.com/cgi-taf/DynaPage.taf?file=/nature/journal/v405/n6785/full/

28. Cockayne Syndrome Articles, Support Groups, And Resources cockayne syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). cockayne syndrome. http://www.medhelp.org/HealthTopics/Cockayne_Syndrome.html

[Health Topics A-Z] A B C D ... Z Cockayne Syndrome Support Groups: Share and Care Cockayne Syndrome Network [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

29. Share And Care Cockayne Syndrome Network Share and Care cockayne syndrome Network. (Bilingual) * Mutual support and networkingfor families affected by cockayne syndrome (cachectic dwarfism). http://www.medhelp.org/amshc/amshc306.htm

Title: The Cobalamin Network Description: Informational and emotional support for families of children affected by inborn errors of cobalamin metabolism. Referrals to pediatric metabolic practitioners. Scope: International network Founded: Address: P.O. Box 174 Thetford Center, Vermont, 05075 United States Telephone: Email: SueBee18@valley.net or menta@cajunnet.com This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to ed@selfhelpgroups.org Updated: 02/2003

30. Service Page - Pathologie Information DISEASE cockayne syndrome, Included disease(s) cockayne syndrome type1 cockayne syndrome type 2 cockayne syndrome type 3, CIM Q87.1, http://orphanet.infobiogen.fr/Site/Exp.stm?Lng=GB&Expert=191

31. Short Description Of Cell Lines. Pathology: Cockayne Syndrome #216400 Version 4.200205, Short description of cell lines. Pathology Cockaynesyndrome 216400 OMIM record. By selecting the cell line http://www.biotech.ist.unige.it/cldb/pat19.html

Version Short description of cell lines. Pathology: Cockayne syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast PVCGU human, Caucasian ... By Beatrice...

32. Chin Med J (Taipei) 1997;59:199-203. (Cockayne Syndrome With Tetralogy Of Fallot Chin Med J (Taipei) 1997;59199203. cockayne syndrome With Tetralogy of FallotA Case Report. Clinical and cytobiological diagnosis of cockayne syndrome. http://www.vghtpe.gov.tw/~cmj/5903/590310.htm

Next Prev Abs Chi ... Home Chin Med J (Taipei) 1997;59:199-203. Cockayne Syndrome With Tetralogy of Fallot: A Case Report Choun-Seng Choong , Kiew-Lian Liew , Yung-Feng Huang , Pao-Ching Chiu , Kai-Sheng Hsieh Department of Pediatrics, Jen-Ai General Hospital, Pingtung, and Department of Pediatrics, Veterans General Hospital Kaoshiung, Taiwan, R.O.C. Abstract Cockayne syndrome (CS) is a rare auto-somal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities. This is a description of a three-year-old boy with typical features of Cockayne syndrome complicated with tetralogy of Fallot, pneumonia and hepato-splenomegaly. He had been suffering from frequent attacks of pneumonia and had been hospitalized for several times since birth. Tetralogy of Fallot was diagnosed under echocardiography study and he died suddenly in hospital during a mydriatic procedure in the Ophthalmologic Clinic. [Chin Med J (Taipei) 1997;59:199-203.]

33. Chin Med J (Taipei) 1997;59:199-203. (Abstract) (Cockayne Syndrome With Tetralog cockayne syndrome With Tetralogy of Fallot A Case Report. ChounSeng Choong 1, Kiew-Lian Liew 1 , Yung-Feng Huang 2 , Pao-Ching Chiu 2 , Kai-Sheng Hsieh 2. http://www.vghtpe.gov.tw/~cmj/5903/590310ab.htm

Next Prev Full Chi ... Home Chin Med J (Taipei) 1997;59:199-203. Cockayne Syndrome With Tetralogy of Fallot: A Case Report Choun-Seng Choong , Kiew-Lian Liew , Yung-Feng Huang , Pao-Ching Chiu , Kai-Sheng Hsieh Department of Pediatrics, Jen-Ai General Hospital, Pingtung, and Department of Pediatrics, Veterans General Hospital Kaohsiung, Taiwan, R.O.C. Abstract Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth retardation, senile-like appearance, loss of subcutaneous adipose tissue, photosensitive dermatitis, microcephaly, deafness, pigmentary degeneration of retina, disproportionately long limbs, skeletal malformations with knee contractures and neurologic abnormalities. This is a description of a three-year-old boy with typical features of Cockayne syndrome complicated with tetralogy of Fallot, pneumonia and hepatosplenomegaly. He had been suffering from frequent attacks of pneumonia and had been hospitalized for several times since birth. Tetralogy of Fallot was diagnosed under echocardiography study and he died suddenly in hospital during a mydriatic procedure in the Ophthalmologic Clinic. [Chin Med J (Taipei) 1997;59:199-203.]

34. Cockayne Syndrome From Pediatrics / Genetics And Metabolic Disease cockayne syndrome cockayne syndrome (CS) spans a spectrum that includesCS type 1, the classic form; CS type 2, a more severe form with http://author.emedicine.com/ped/topic424.htm

eMedicine Journal Pediatrics Genetics And Metabolic Disease Cockayne Syndrome Synonyms, Key Words, and Related Terms: Cockayne syndrome type A, CS, CAS, excision-repair cross-complementing group 8, CKN1, cachectic dwarfism, growth failure, premature aging, pigmentary retinal degeneration, Cockayne syndrome type B, , CS type 1, CS type 2 Author Information Introduction Clinical Differentials ... Bibliography AUTHOR INFORMATION Section 1 of 11 Authored by Suzanne M Carter, MS , Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine Coauthored by Susan J Gross, MD, FRCS(C), FACOG, FACMG , Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine Suzanne M Carter, MS, is a member of the following medical societies: American College of Medical Genetics Edited by Elaine H Zackai, MD , Director of Clinical Genetics Center, Professor of Pediatrics, Department of Pediatrics, Division of Human Genetics and Molecular Biology, University of Pennsylvania, Children's Hospital of Philadelphia; Robert Konop, PharmD

35. CKN1: Cockayne Syndrome 1 (classical) CKN1 cockayne syndrome 1 (classical) Descriptive Polymorphism Data SITE SPECIFICDATA. Individual Genotypes, Genotypes for each sample at each polymorphic site. http://egp.gs.washington.edu/data/ckn1/

CKN1: Cockayne syndrome 1 (classical) Descriptive Polymorphism Data SITE SPECIFIC DATA Individual Genotypes Genotypes for each sample at each polymorphic site. SNP Sequence Context A multi-entry FASTA file containing each polymorphic site and 50 bp of flanking sequence both 5' and 3'. Each polymorphic position is listed according to the IUPAC ambiguity codes or the insertion allele at that site. SNP Locations Mapping of each SNP onto the gene structure. Each SNP can be listed as: - (noncoding), 5UT (5'UTR), 3UT (3'UTR). If a SNP occurs in a coding region its effect on the amino acid translation is shown. All translations are done from the Locus Link RefSeq curated mRNA sequence (Acc. No.: NM* or XM*) for each gene. SNP Alleles Alleles at each polymorphic site along with their respective counts. Allele counts are listed for each sample population and the combined samples. SNP Allele Frequency Frequency of each allele at each polymorphic site. Allele frequencies are listed for each sample population and the combined samples. The last three columns list the heterozygosity for each polymorphic site (hz).

36. Health Library - Cockayne Syndrome cockayne syndrome. In the classical form of cockayne syndrome (Type I) the symptomsare progressive and typically become apparent after the age of one year. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

37. Cockayne Syndrome - HUM-MOLGEN Author, Topic cockayne syndrome. Administrator Administrator, posted1002-2001 0318 PM Click Here to See the Profile for Administrator http://www.hum-molgen.de/bb/Forum2/HTML/000094.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Cockayne Syndrome profile register preferences faq ... next oldest topic Author Topic: Cockayne Syndrome Administrator Administrator posted 10-02-2001 03:18 PM Searching for some group doing the genetic diagnosis of Cockayne Sd. Dr Eugenia Monros Seccio Genetica Hospital Sant Joan de Deu Av. Sant Joan de Deu nº2 08950 Esplugues, Barcelona Spain Tel: +34 93 2532103 Fax: +34 93 2803626 e-mail: emonros@hsjdbcn.org IP: 160.45.10.9 mvanstee unregistered posted 10-08-2001 10:44 PM quote: Originally posted by Administrator: Searching for some group doing the genetic diagnosis of Cockayne Sd. Dr Eugenia Monros Seccio Genetica Hospital Sant Joan de Deu Av. Sant Joan de Deu nº2 08950 Esplugues, Barcelona Spain Tel: +34 93 2532103 Fax: +34 93 2803626 e-mail: emonros@hsjdbcn.org Contact Bootsma's group in Rotterdam (Erasmus University), they do this type of diagnosis. IP: 62.131.2.140 Gnovelli Member posted 07-23-2002 08:41 AM quote: Cockaine Diagnosis: [QUOTE]Originally posted by Administrator: [b]Searching for some group doing the genetic diagnosis of Cockayne Sd.

38. AD HOC BIBLIO - INDEX SUJETS LETTRE C Compilé Le 14/01/03 Cobalt Hair trace elements in Friedreich's Ataxia .a; CockayneSyndrome cockayne syndrome / Xeroderma Pigmentosum Complex http://www.cidg.com/~marienf/k/i/mid3c.htm

C Achieving independence by a high level quadriplegic through motivation and techn... [m] Assessment for therapeutic positioning in seating in the C.P. population.... [m] Bead seat re-visited.... [m] Clinical performance of scooters and power based wheelchairs users using a power... [m] How to evaluate a pressure relief cushion: A literature review.... [m] Innovations in therapeutic positioning. The use of "Adaptfoam" for quick customi... [m] Issues in developing custom car seats for young children with physical disabilit... [m] Seating and mobility considerations for children with Duchenne Muscular dystroph... [m] The effects of saddle seating on trunk posture, postural sway, and upper-extremi... [m] Abstracts of the 21st Annual Carrell-Krusen Symposium, Dallas, TX, february 24-... [a] [m] [m] [m] [m] Le cerveau des enfants atteints d'autisme : nouvelles explorations.... [m] [m] [m] Congres : Eigth Annual Conference on Gait Analysis, St. Paul, MI, March 1998... Summary of pathologic gait.... [m] Congres : Eigth Annual Conference on Gait Analysis, St. Paul, MI, March 1998... Assessing functional outcomes....

39. Social Function Changes In Children And ... Translate this page Titre/Title, Neurology. Article, cockayne syndrome and xerodermapigmentosum. Identification, Nov, No2/2 55 2002 Pages 1442-49. http://www.cidg.com/~marienf/k/i/n/m020027.htm

# Article : A0034596 Cote/Call Number Auteur/Author Dumas, Helene M. Haley, Stephen M. Bedell, Gary M. Hull, Ellen M. Titre/Title Pediatric Rehabilitation Article Social function changes in children and adolescents with acquired brain injury during inpatient rehabilitation Identification Oct/Dec, No 4 4 2001 Pages: 177-85 Descripteurs/Descriptors Trouble comportemental Comportement social Demande par courrier Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

40. GeneReviews : Cockayne Syndrome Back to whats new page. GeneReviews cockayne syndrome, Notes forphysicians on cockayne syndrome. cockayne syndrome / genetics. http://omni.ac.uk/whatsnew/detail/4008625.html

Back to whats new page. GeneReviews : Cockayne syndrome Notes for physicians on Cockayne syndrome. This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in December 2000, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Cockayne Syndrome / genetics Last modified 26/Apr/2002 [Low Graphics]

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