1. NORD - National Organization For Rare Disorders, Inc. Offers the synonyms, a general discussion and resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cockayne Synd

2. Cockayne Syndrome Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), http://www.ncbi.nlm.nih.gov/disease/Cockayne.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View CSA on chromosome 5 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders EDWARD ALFRED COCKAYNE (1880-1956), after whom this disease is named, was a London physician who concentrated particularly on hereditary diseases of children. Cockayne syndrome is a rare inherited disorder in which people are sensitive to sunlight, have short stature and have the appearance of premature aging. In the classical form of Cockayne syndrome (Type I), the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenital form of Cockayne syndrome (Type II) is apparent at birth. Interestingly, unlike other DNA repair diseases, Cockayne syndrome is not linked to cancer. After exposure to UV radiation (found in sunlight), people with Cockayne syndrome can no longer perform a certain type of DNA repair, known as 'transcription-coupled repair'. This type of DNA repair occurs 'on the fly', right as the DNA that codes for proteins is being replicated. Two genes defective in Cockayne syndrome, CSA and CSB, have been identified so far. The CSA gene is found on chromosme 5. Both genes code for proteins that interacts with components of the transcriptional machinery and with DNA repair proteins. Escherichia coli, a bacterium, also undergoes transcription-coupled repair, and a yeast counterpart of the CSB gene has also recently been discovered. These similar mechanisms to the one found in humans are invaluable for studying the molecular processes involved in transcription-coupled repair because powerful molecular genetics techniques can be used. A better understanding of the mechanisms involved will help unravel the pathogenesis of disease and may identify potential drug targets.

3. Cockayne Syndrome Homepage Share and Care Self Support group to provide information to families and professionals with an interest in cockayne syndrome (CS). http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Cockayne Syndrome cockayne syndrome Edward Alfred Cockayne (1880 1956), after whom this disease is cockayne syndrome is a rare inherited disorder in which people are http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

5. Cockayne Syndrome Genes and disease provides a short description of this inherited disorder. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.159

6. Frequently Asked Questions Frequently asked Questions What is cockayne syndrome? What are the Characteristic Features of CS? How is CS Inherited? http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Cockayne Syndrome Homepage Share and Care Self Support group to provide information to families and professionals with an interest in cockayne syndrome (CS). http://www.cockayne-syndrome.org/

8. 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 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. What Is Cockayne Syndrom Translate this page ¿Qué es cockayne syndrome? ¿Qué es las Características Típicas de CS? ¿Cómo se Heredan C? Syndrome (CS) de Cockayne es una forma rara de dwarfism. http://www.cockayne-syndrome.org/Spanish/Span_What_is_CS.htm

¿Qué es Cockayne Syndrome? ¿Qué es Cockayne Syndrome? ¿Qué es las Características Típicas de CS? ¿Cómo se Heredan C? ¿Qué es las Oportunidades de Tener a Otro Niño con C? ... ¿S Donde el nombre viene de? ¿Qué es Cockayne Syndrome? Syndrome (CS) de Cockayne es una forma rara de dwarfism. Es genético y recessively heredado. CS escriben yo o clásicas CS somos la forma más común en que el primer año de la vida es básicamente normal con el comienzo de síntomas en el segundo año de la vida. Con CS escribe II o del comienzo temprano CS, los síntomas se demuestran dentro del primer año. Una forma templada de CS se ha identificado en cuál niños tienen sólo unos pocas características. ¿Qué es las Características Típicas de CS? El siguiente es una lista de las características más comunes notado en casos informados de CS. Nadie niño tendrá necesariamente todas las características listaron. Normal primero año con el comienzo de síntomas en el segundo año Dwarfism Microcephaly (cabeza pequeña) la demora (progresivo) de Neurodevelopmental la deficiencia (progresiva) Mental los andares Inestables Quemaduras de sol fácilmente Retinopathy y/o las cataratas (progresivos) la pérdida (progresiva) que Oye caries Dental la apariencia facial Típica: facies Pellizcado Sunken mira nariz de Beaked Prognathism (mandíbula que proyecta) la Pérdida de gordura de subcutaneous envejecimiento Prematuro lifespan Acortado

10. EMedicine - Cockayne Syndrome Article By Suzanne M Carter, MS cockayne syndrome cockayne syndrome (CS) spans a spectrum that includes CS type 1, the classic form; CS type 2, a more severe form with symptoms http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. EMedicine - Cockayne Syndrome : Article By Suzanne M Carter, MS cockayne syndrome cockayne syndrome (CS) spans a spectrum that includes CS type 1, the classic form; CS type 2, a more severe form with symptoms present http://www.emedicine.com/ped/topic424.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Cockayne Syndrome Last Updated: April 26, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: 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 Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: 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 Coauthor(s): 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:

12. GeneReviews Cockayne Syndrome Your browser does not support HTML frames so you must view cockayne syndrome in a slightly less readable form. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. EMedicine - Cockayne Syndrome : Article By Suguru Imaeda, MD cockayne syndrome cockayne syndrome is a rare autosomal recessive, heterogeneous, multisystem disorder characterized by dwarfism, progressive pigmentary http://www.emedicine.com/DERM/topic717.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Cockayne Syndrome Last Updated: November 12, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: CS-I, CS-II, classic Cockayne syndrome, severe Cockayne syndrome, dwarfism, progressive pigmentary retinopathy, birdlike facies, photosensitivity AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Suguru Imaeda, MD , Chief of Health Services Dermatology, Clinical Associate Professor, Department of Dermatology, Yale University School of Medicine Suguru Imaeda, MD, is a member of the following medical societies: American Academy of Dermatology American Medical Association Connecticut State Medical Society Sigma Xi , and Society for Investigative Dermatology Editor(s): Jacek C Szepietowski, MD, PhD

14. Cockayne's Syndrome Handbook Cockayne's Syndrome Handbook URL is http//members.aol.com/DBBusch/shareand. .. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. GeneReviews: Cockayne Syndrome Your browser does not support HTML frames so you must view cockayne syndrome in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/cockayne/

Your browser does not support HTML frames so you must view Cockayne Syndrome in a slightly less readable form. Please follow this link to do so.

16. What Is Cockayne Syndrome? What is cockayne syndrome? cockayne syndrome (Cockayne's syndrome; http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Cockayne's Syndrome Handbook THE COCKAYNE S SYNDROME HANDBOOK What is Cockayne s syndrome? Cockayne s syndrome (cockayne syndrome; CS) is a rare and devastating genetic disease. http://members.aol.com/DBBusch/shareandcare.cshandbook.html

htmlAdWH('93212823', '728', '90'); Main Developmental Cockayne's Syndrome Handbook URL is http://members.aol.com/DBBusch/shareandcare.cshandbook.html version of 9 March 98 by David Busch This is a rough initial draft of a handbook on Cockayne's syndrome (CS), modeled after "The Xeroderma Pigmentosum Handbook" by Mary Ellen Fitzgerald and Richard Ng; and "Understanding Xeroderma Pigmentosum" by Ken Kraemer. It is in need of editing, proofreading, and possibly some approvals before it is to be brought to the attention of the general public, but is being posted on the Internet at the above Web site address (URL) in order to facilitate access by persons being consulted about the Share and Care Home Page under revision at http://members.aol.com/DBBusch/shareandcarehome.html ( Share and Care Home Page ) . Please E-mail comments to DBBusch@aol.com. THE COCKAYNE'S SYNDROME HANDBOOK What is Cockayne's syndrome? Cockayne's syndrome (Cockayne syndrome; CS) is a rare and devastating genetic disease. It is present in about 1/100,000 live births. Its inheritance is autosomal recessive. In other words, it occurs if both the father and the mother pass on a damaged gene to the affected child, with the parents themselves having no health problems related to CS, and with 1/4 of the siblings expected to also have CS. CS may be diagnosed if both of the following major criteria and three of the five minor criteria are met: MAJOR CRITERIA: 1. Height below fifth percentile for age and sex.

18. Cockayne Syndrome a CHORUS notecard document about cockayne syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. What Is Cockayne Syndrome? cockayne syndrome (Cockayne s syndrome; CS) is a rare genetic disease with autosomal recessive inheritance, meaning that the disease is inherited by an http://members.aol.com/DBBusch/shareandcare.whatisCS.html

htmlAdWH('93212823', '728', '90'); Main Developmental What is Cockayne syndrome? Cockayne syndrome (Cockayne's syndrome; CS) is a rare genetic disease with autosomal recessive inheritance, meaning that the disease is inherited by an expected 1/4 of the children of apparently healthy parents. It is seen in about 1/100,000 live births, and affects all ethnic groups. Among the problems encountered in CS are: developmental delay, extremely short stature, poor weight gain, poor feeding, premature aging, extreme sunsitivity to sunlight and to other UV sources, cataracts (12 year life expectancy if present at birth), pigmentary retinopathy (retinitis pigmentosum) and blindness, "nerve" (sensorineural) deafness, severe tooth decay, and calcium deposits in the brain. CS patients tend to have faces with small chins, prominent and pointed noses, and ears that are unusually large for the head size. Their eyes tend to be sunken as one result of their abnormally low body fat, including under the skin on the face and elsewhere. To go to home page, click here.

20. 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

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