21. Molecular Characterization Of An Acidic Region Deletion Mutant Of Molecular characterization of an acidic region deletion mutant of cockayne syndrome group B protein Morten Sunesen , Rebecca R. Selzer1 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Cockayne Syndrome Article describes cockayne syndrome, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/cs/cockaynesyndrome/a/032203.htm

var zLb=8; zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases C - D Rare Diseases: C Cockayne Syndrome Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Elsewhere on the Web Share and Care Cockayne Syndrome Network Gigi Clark Foundation NCBI: Cockayne Syndrome Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55') Cockayne Syndrome From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter. Sign Up Now!

23. Cockayne Syndrome Links to information and resources for cockayne syndrome. http://rarediseases.about.com/cs/cockaynesyndrome/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Cockayne Syndrome Guide picks A rare inherited disorder in which people are sensitive to sunlight, have short stature and the appearance of premature aging. Cockayne Syndrome Feature article describes the disorder, its symptoms, and treatment. From the About.com Guide to Rare/Orphan Diseases. Dermatology Online Atlas (DOIA) Information in English and German, including photos. GeneClinics: Cockayne Syndrome Information for physicians and researchers from the University of Washington. NCBI: Cockayne Syndrome Excellent, concise information about the syndrome, from the National Center for Biotechnology Information (U.S.). Topic Index Email to a Friend Our Story Be a Guide ... New York Times Company Hurricane Katrina About's Hurricane Blogs NY Times Coverage Where to Donate Exclusive: One Family's Story ... How to Explain to Kids Related Topics Multiple Sclerosis Parenting Special Needs Sleep Disorders Headlines Cystic Fibrosis Foundation helps Hurricane Katrina victims Robert J. Beall, Ph.D, President and CEO of the Cystic...

24. Entrez PubMed Cataract/genetics; Child; cockayne syndrome/genetics*; cockayne syndrome/pathology; Comparative Study; DNA Repair; Fatal Outcome; Female; Hearing Loss, http://ghr.nlm.nih.gov/gene=ercc8/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: 7 Review: Items 1 - 7 of 7 One page.

25. Cockayne Syndrome / Family Village Library Learn More About It * Web Sites * Search Google for cockayne syndrome Share and Care cockayne syndrome Network PO Box 570618 Dallas, TX 75357 http://www.familyvillage.wisc.edu/lib_cock.htm

Cockayne Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Cockayne Syndrome" Who to Contact Share and Care Cockayne Syndrome Network P.O. Box 570618 Dallas, TX 75357 E-mail: J93082@aol.com Web: http://www.cockayne-syndrome.org/ This is an international network that was founded in 1981. It offers mutual support and networking for families affected by Cockayne Syndrome (cachectic dwarfism). This includes the sharing of information between families and professionals, maintaining a registry of families, and providing referral information, a newsletter, phone support, and pamphlets (which are available in English, Spanish and Japanese). Where to Go to Chat with Others Cockayne Syndrome Chat Room Learn More About It Cockayne Syndrome From Online Mendelian Inheritance in Man (OMIM) Cockayne Syndrome Cockayne's Syndrome Handbook Cockayne's Syndrome - from eMedicine Web Sites Share and Care Cockayne Syndrome Network Back to [ C - D Family Village Home Library Coffee Shop ... Information Last updated 4/13/2004 by familyvillage@waisman.wisc.edu

26. Cockayne Syndrome a CHORUS notecard document about cockayne syndrome. http://chorus.rad.mcw.edu/doc/00090.html

CHORUS Collaborative Hypertext of Radiology Nervous system About CHORUS Search Feedback Cockayne syndrome type of dysmyelinating disease autosomal recessive onset usually within 2nd year (?) variant of Pelizaeus-Merzbacher disease distinguish from Kearns-Sayre syndrome CT findings: microcephaly basal ganglion calcification cerebral atrophy Charles E. Kahn, Jr., MD - 7 July 1995 Last updated 26 May 2004 Related CHORUS documents: dysmyelinating disease leukodystrophy metachromatic leukodystrophy Pelizaeus-Merzbacher syndrome ... Alexander disease Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

27. Cockayne Syndrome cockayne syndrome. type of dysmyelinating disease. autosomal recessive; onset usually within 2nd year. (?) variant of PelizaeusMerzbacher disease http://chorus.rad.mcw.edu/to-go/00090.html

Cockayne syndrome type of dysmyelinating disease autosomal recessive onset usually within 2nd year (?) variant of Pelizaeus-Merzbacher disease distinguish from Kearns-Sayre syndrome CT findings: microcephaly basal ganglion calcification cerebral atrophy Home Nervous system

28. Cockayne Syndrome Share and Care cockayne syndrome Network Inc. PO Box 570618 Dallas, TX 75357 USA Phone1 866cockayne (Toll free) Fax 001 (972) 613-4590 http://www.kumc.edu/gec/support/cockayne.html

Cockayne syndrome Share and Care Cockayne Syndrome Network Inc. P.O. Box 570618 Dallas, TX 75357 USA Phone:1 866-cockayne (Toll free) Fax: 001 (972) 613-4590 E-mail: J93082@aol.com Web page: http://www.cockayne-syndrome.org/ Also See: National organizations , genetic conditions / birth defects resources To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments Revised February 22, 2002 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

29. Cockayne Syndrome cockayne syndrome is a rare genetic disorder characterized by a host of developmental problems including extremely short stature, premature aging, 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

30. Xeroderma Pigmentosum And Cockayne Syndrome Xeroderma Pigmentosum and cockayne syndrome are Heritable Disorders cockayne syndrome abbreviated as (CS) is also a human genetic disorder and is http://phobos.ramapo.edu/~pbagga/xpcs.htm

Paramjeet Singh Bagga, Ph.D. Xeroderma Pigmentosum and Cockayne Syndrome are Heritable Disorders Xeroderma Pigmentosum (abbreviated as XP ) is an autosomal recessive genetic disorder. XP is characterized by abnormal pigmentation on the Sun exposed areas of the skin ( thus the name Pigmentosum ), extreme sensitivity of the skin to Sunlight and marked predisposition to skin cancer. In some cases growth and mental retardation are also associated with this syndrome. Back to the Top Back to DNA Repair Mechanisms Source: Friedberg, E.C. 1985. DNA Repair. p. 537. Freeman, USA. Cockayne Syndrome abbreviated as ( CS ) is also a human genetic disorder and is closely related to XP CS is associated with photosensitivity but not necessarily skin cancer. Symptoms of CS include profound growth retardation, retinopathy, cataracts, large sunken eyes and thin prominent nose. These patients have prematurely aged appearance. Back to the Top Back to DNA Repair Mechanisms In comparison to cells from normal individuals, cells derived from XP and CS individuals are highly sensitive to Ultraviolet (UV) radiations. The biochemical defect in

31. Cockayne Syndrome cockayne syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation http://www.bchealthguide.org/kbase/nord/nord176.htm

var hwPrint=1;var hwDocHWID="nord176";var hwDocTitle="Cockayne Syndrome";var hwRank="1";var hwSectionHWID="nord176-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Cockayne Syndrome Important It is possible that the main title of the report Cockayne Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms CS Deafness-Dwarfism-Retinal Atrophy Dwarfism with Renal Atrophy and Deafness Neill-Dingwall Syndrome Progeroid Nanism Disorder Subdivisions Classical Form, Cockayne Syndrome Type I (Type A) Congenital Form, Cockayne Syndrome Type II (Type B) Late Onset, Cockayne Syndrome Type III (Type C) General Discussion Resources CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: 44 870 7700 325 Fax: 44 870 7700 327 Email: info@climb.org.uk Internet: http://www.CLIMB.org.uk Human Growth Foundation 997 Glen Cove Avenue Glen Head, NY 11545

32. Cockayne Syndrome Definition - Medical Dictionary Definitions Of Popular Medical Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=16913

33. Cockayne Syndrome GeneReviews cockayne syndrome. Notes for physicians on cockayne syndrome. This document includes diagnosis, a clinical description, differential diagnosis http://omni.ac.uk/browse/mesh/D003057.html

low graphics Cockayne Syndrome broader: Dwarfism other: Dwarfism, Pituitary 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 (last revised September 2003), 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. Cockayne Syndrome / genetics Last modified: 02 Sep 2005

34. Cockayne Syndrome Topic - Unified Search Environment cockayne syndrome may be divided into two or more distinct genetic subtypes. (Menkes, Textbook of Child Neurology, 5th ed, p197) http://www.use.hcn.com.au/portals/shared/subject.`Cockayne Syndrome`/home.html

Cockayne Syndrome Topic Tree Definition: An inherited syndrome phenotypically characterized by unusual facies (large ears and sunken eyes), growth failure, intellectual deterioration, loss of subcutaneous fat, pigmentary retinal degeneration, neural deafness, dwarfism, photosensitivity, optic atrophy, peripheral neuropathy, and cataracts. Pathologic examination reveals a patchy loss of central myelin and white matter atrophy. Cockayne syndrome may be divided into two or more distinct genetic subtypes. (Menkes, Textbook of Child Neurology, 5th ed, p197) Synonyms and Source Vocabularies: Cockayne Syndrome Progeria-Like Syndrome Congenital Abnormality Abnormalities, Drug-Induced Abnormalities, Multiple Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome Bloom Syndrome Cockayne Syndrome ... Congenital neurologic anomalies

35. Cockayne Syndrome - The Knowledge Database Of The Swedish National Board Of Heal Characteristic features in cockayne syndrome are short stature, a particular appearance The number of individuals with cockayne syndrome is not known, http://www.sos.se/smkh/2002-110-6/2002-110-6.htm

Socialstyrelsen 106 30 Stockholm The Board classifies its publications into different types of document. This is a Review of knowledge . This means that the report is based on science and/or tried and tested experience. Reviews of knowledge shall, among other things, support knowledge-based care and treatment, method development and other work for improvement; shall stimulate and facilitate quality assurance and effective use of resources and/or elucidate effects of distribution. The Board is responsible for 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 database of the Swedish National Board of Health and Welfare on rare diseases. The concept of "rare diseases" is defined as: "Disorders resulting in extensive disability whick affect no more than 100 individuals in one million inhabitants". The ambition underlying the database is to provide information to the public, including patients and their families, as well as to health professionals. 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.

36. Cockayne Syndrome - St. Joseph Mercy, Ann Arbor Michigan cockayne syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/13093.cfm

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend National Organization for Rare Disorders, Inc. Cockayne Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Cockayne Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms CS Deafness-Dwarfism-Retinal Atrophy Dwarfism with Renal Atrophy and Deafness Neill-Dingwall Syndrome Progeroid Nanism Disorder Subdivisions Classical Form, Cockayne Syndrome Type I (Type A) Congenital Form, Cockayne Syndrome Type II (Type B) Late Onset, Cockayne Syndrome Type III (Type C) General Discussion Resources CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: 44 870 7700 325 Fax: 44 870 7700 327 Email: info@climb.org.uk

37. COCKAYNE SYNDROME: Contact A Family - For Families With Disabled Children: Infor Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/c39.html

printer friendly COCKAYNE SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no This syndrome was described in 1936. In its classical form it presents with premature ageing and neurological deterioration. The facial features show progressive ageing with thinning of the skin, deep sunken eyes, hair loss and dental decay. There may be loss of motor and intellectual skills with changes in the white matter of brain (leukodystrophy) on an MRI brain scan. Deafness and visual problems due to retinitis pigmentosa will develop. The bones show thinning and the back becomes curved and there will be joint contractures. The age of the onset of symptoms and the progression of the disease is variable. The early onset cases overlap with COFS (Cerebro-Oculo-Facio-Skeletal) syndrome. One of the hallmarks of the syndrome is sensitivity to the sun leading to blistering and excessive reddening of the skin. This has lead to the recognition that in Cockayne syndrome ultra violet (UV) light can cause damage to the DNA. In fact, the underlying cause is known to be a defect in the enzymes that repair DNA after UV damage. There are several different enzymes involved and the diagnosis of the specific enzyme depends on cellular studies carried out from the cells grown from a skin biopsy (fibroblasts). This is carried out in highly specialised laboratories. The sun sensitivity can be reduced by avoiding exposure to UV light and the use of sun block creams. However, there is no treatment for the progressive neurological degeneration.

38. Cockayne Syndrome Articles, Support Groups, And Resources cockayne syndrome articles, support groups, and resources for patients from Med Help International (www.medhelp.org) 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 International Search Medical Forums / Message Boards ... Site Map Revised: 9/7/2005

39. Weber-Cockayne Syndrome (www.whonamedit.com) Webercockayne syndrome A form of epidermolysis bullosa. Also known as Cockayne-Touraine syndrome. http://www.whonamedit.com/synd.cfm/1183.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 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.

40. Indian Pediatrics - Editorial Erythematous malar rash, maloccluded teeth and low set ear in cockayne syndrome. cockayne syndrome is a rare, autosomal recessively inherited disorder. http://www.indianpediatrics.net/oct2003/oct-1010.htm

Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2003; 40:1010 Cockaney's Syndrome A 3½-year-old male child presented with history of developmental delay. On examination he was short statured (height 78 cm) and had microcephaly (head circumference 43 cm). There was an erythematous malar rash (photosensitive), prominent but low set ears, prognathism, maloccluded and carious teeth ( Fig. 1 ). He was also mentally retarded. Ophthalmoscopic examination revealed bilateral optic atrophy with pigmentary retinal degeneration. Systemic examination was within normal limits. Based on these features a diagnosis of Cockaney’s syndrome was made. Fig. 1. Erythematous malar rash, maloccluded teeth and low set ear in Cockayne syndrome. Cockayne syndrome is a rare, autosomal recessively inherited disorder. The patient’s present with photosensitive erythematous malar rash, sunken eyes and progeric appearance (due to subcutenous lipoatrophy). The typical facial appearance includes pinched narrow face and beaked nose. They have large hands and feet, prominent ears, prognathism and carious teeth. Other important features include mental retardation, microcephaly, growth failure, optic atrophy, pigmented retinal degeneration, ataxia and sensorineural deafness. X -ray shows thickened calvarium, sclerotic epiphyses of fingers and osteoporosis. This syndrome need to be differentiated from Blooms syndrome, Rothmund-Thomson syndrome, progeria and xeroderma pigmentosum. Death by the second or third decade occurs as a result of progressive neurological degeneration.

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