Geometry.Net - Health_Conditions: Cockayne Syndrome

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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 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
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

Extractions: 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
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

Extractions: 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. The disease/injury/diagnosis 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. 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.
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

Extractions: 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.
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/
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/
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
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
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
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
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

Extractions: 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.]
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

Extractions: 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.]
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

Extractions: 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
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/

Extractions: 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).
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=
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
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
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

Extractions: # 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
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

Extractions: 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

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