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         Cockayne Syndrome:     more detail
  1. Molecular Mechanisms of Cockayne Syndrome
  2. Cockayne Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
  3. Cockayne syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Suzanne, MS, CGC Carter, 2005
  4. Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts [An article from: DNA Repair] by G. Spivak, P.C. Hanawalt,
  5. Epidermolysis bullosa simplex: localized (Weber-Cockayne type).(Clinical Snapshot): An article from: Dermatology Nursing by Kate de Banter, 2004-12-01
  6. ACCELERATED AGING: HUMAN PROGEROID SYNDROMES: An entry from Macmillan Reference USA's <i>Encyclopedia of Aging</i> by DAVID K. ORREN, 2002
  7. Cockayne syndrome
  8. Severe growth retardation and short life span of double-mutant mice lacking Xpa and exon 15 of Xpg [An article from: DNA Repair] by N. Shiomi, M. Mori, et all 2005-03-02
  9. New insights for understanding the transcription-coupled repair pathway [An article from: DNA Repair] by A. Sarasin, A. Stary, 2007-02-04
  10. An integrated mechanistic model for transcription-coupled nucleotide excision repair [An article from: DNA Repair] by S. Patel, K.V. Venkatesh, et all 2004-03-04
  11. The yeast rDNA locus: A model system to study DNA repair in chromatin [An article from: DNA Repair] by A. Conconi,
  12. Mending human genes: A job for a lifetime [An article from: DNA Repair] by J.E. Cleaver, 2005-05-02
  13. Repair of DNA lesions in chromosomal DNA [An article from: DNA Repair] by M. Fousteri, A. van Hoffen, et all
  14. Repair characteristics and differentiation propensity of long-term cultures of epidermal keratinocytes derived from normal and NER-deficient mice [An article from: DNA Repair] by C. Backendorf, J. de Wit, et all

101. Cockayne, Syndrome : Arborescences MeSH

http://www.chu-rouen.fr/navimesh/C/navicockaynesyndrome.html
Cockayne, syndrome : arborescences MeSH Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF

102. ORPHANET - Maladies Rares - Médicaments Orphelins
Translate this page cockayne type 3, syndrome de cockayne, syndrome de, type 1 Le syndrome de cockayne est une affection rare transmise sur le mode autosomique récessif.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=191

103. Cockayne, Syndrome De
Translate this page Base de données sur les maladies rares et les médicaments orphelins.
http://www.orpha.net/static/FR/cockayne.html
Accès à la base de données Orphanet
Cockayne, syndrome de
Accès direct aux détails Alias
  • Cockayne type 3, syndrome de
  • Cockayne, syndrome de, type 1
  • Cockayne, syndrome de, type 2
  • Cockayne, syndrome de, type 3
Résumé
Le syndrome de Cockayne est une affection rare transmise sur le mode autosomique récessif. Il se développe dans la deuxième année de vie. Le diagnostic repose sur l'examen des signes cliniques : état poïkilodermique, nanisme, retard mental, rétinite pigmentaire, cécité et surdité sensorielle. La prise en charge est multidisciplinaire. La photoprotection des yeux et de la peau est essentielle en raison d'un déficit important de la réparation de l'ADN après exposition solaire. *Auteur : Dr C. Blanchet-Bardon (mars 2002)*. Signes de la maladie
  • ANOMALIE DE L'AUDITION/SURDITE
  • AREFLEXIE / HYPOREFLEXIE
  • ATAXIE / INCOORDINATION
  • CONJONCTIVE TELANGIECTASIES
  • DIFFICULTE D'ELEVAGE
  • ENOPHTALMIE
  • EPHELIDES (TACHES DE ROUSSEUR) EN EXCES
  • HYPOHIDROSE / HYPOSUDATION
  • MAIGREUR (AUTRE QUE LIPODYSTROPHIE)
  • MEMBRES LONGS
  • MICROCEPHALIE
  • PETITE TAILLE / NANISME
  • PHOTOSENSIBILITE CUTANEE
  • PIED BOT VARUS/VALGUS
  • RETARD MENTAL / PSYCHO-MOTEUR
  • RETARD MENTAL MODERE / LEGER
  • RETARD MENTAL SEVERE
  • SURDITE DE PERCEPTION
  • TACHES CAFE AU LAIT
  • TRANSMISSION AUTOSOMIQUE RECESSIVE
  • ATROPHIE OPTIQUE
  • CALCIFICATIONS INTRACRANIENNES
  • CARIES DENTAIRES MULTIPLES
  • CHEVEUX RARES/HYPOTRICHIE/ATRICHIE
  • CONDUCTION NERVEUSE ANORMALE
  • CYPHOSE
  • E.E.G. ANORMAL

104. Early Onset Cockayne's Syndrome: Case Reports With Neuropathological And Fibrobl
Two patients with early onset cockayne s syndrome are presented. It has been suggested that early onset cockayne s syndrome is a syndrome distinct from
http://jmg.bmjjournals.com/cgi/content/abstract/26/3/154

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Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Patton, M. A. Articles by Williams, A. J. Journal of Medical Genetics, 1989, Vol 26, 154-159
ARTICLES
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies
MA Patton, F Giannelli, AJ Francis, M Baraitser, B Harding and AJ Williams
St George's Hospital Medical School, London. Two patients with early onset Cockayne's syndrome are presented. In each case there was a striking failure of growth and developmental deterioration around six months of age. It has been suggested that early onset Cockayne's

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