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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

41. Neurological Disorders, Neurodegenerative Diseases, Cockayne Syndrome
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  • Cockayne Syndrome - Genes and disease provides a short description of this inherited disorder.
  • NORD: Cockayne Syndrome - Offers the synonyms, a general discussion and resources.
  • Pediatric Database - A definition of cockayne syndrome, the epidemiology, pathogenesis, pathology, clinical features, investigations and management.

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42. Cockayne Syndrome
The New Health Directory, Directory, Home Health Conditions and Diseases NeurologicalDisorders Neurodegenerative Diseases cockayne syndrome (3) See Also
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Directory Home Health Conditions and Diseases Neurological Disorders ... Neurodegenerative Diseases : Cockayne Syndrome (3)
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43. Health, Conditions And Diseases, Neurological Disorders, Neurodegenerative Disea
cockayne syndrome is a rare inherited disorder characterized by growth retardation,abnormal sensitivity to light (photosensitivity), and a prematurely aged
http://www.combose.com/Health/Conditions_and_Diseases/Neurological_Disorders/Neu
Top Health Conditions and Diseases Neurological Disorders ... Cockayne Syndrome
Related links of interest: Cockayne Syndrome is a rare inherited disorder characterized by growth retardation, abnormal sensitivity to light (photosensitivity), and a prematurely aged appearance. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The combose.com directory is based on the Open Directory and has been modified and enhanced using our own technology. About ComboSE Download Combose Toolbar

44. Cockayne Syndrome Resource Page
cockayne syndrome Resource Page. Please note and statistics. . Whatis cockayne syndrome? eMedicine Comprehensive clinical summary
http://kevincrowleyfoundation.home.comcast.net/kevin/cockayne/
Cockayne Syndrome Resource Page
Please note
Some of the links on this page will take you to pages that give statistical averages of longevity. If you have come to this page because a loved one is afflicted with Cockayne Syndrome, please remember that there are three types of lies: "lies, damned lies and statistics."
What is Cockayne Syndrome?
eMedicine - Comprehensive clinical summary National Center for Biotechnology Information - Genetic basis for the syndrome
Where Can I Turn for Support?
Share and Care Cockayne Syndrome Network - Family support network
Who is Doing Research?
Dr. James Cleaver

45. Kprones CockayneID10015
cockayne syndrome. Identity. Bibliography. The ATPase domain but not the acidicregion of cockayne syndrome groupe B gene product is essential for DNA repair.
http://www.infobiogen.fr/services/chromcancer/Kprones/CockayneID10015.html
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Home Genes Leukemias Solid Tumours ... NA
Cockayne syndrome
Identity Inheritance Autosomal recessive Clinics Phenotype and clinics normal newborn; growth failure from the age of six months; diagnosis from the age of two years on :
  • senile appearance of the skin (pigmentation, atrophy) with "mickey mouse" aspect (microcephaly, large ears, large nose, deep set eyes).
  • "senil dwarf" aspect in contrast with long limbs, large hands and feet, cold fingers with cyanosis, flexion contractures of joints
  • sensitivity to sunligth
  • severe encephalopathia with profond mental retardation and sensory disorders (deafness, optic atrophy)
  • pigmentary retinitis leading to cecity
  • other disorders: hypertension, early atherosclerosis, intracranial calcification, glomerulosclerosis. Neoplastic risk no increased susceptibility to skin tumors and other cancers, except for Cockayne syndrome expressing xeroderma pigmentosum (XP) symptoms (association with XPG, XPD or XPB group) Evolution clinical heterogeneity, but early death from cachexia and dementia, early cutaneous tumors and atherosclerosis.
  • 46. Healthwise
    Topic cockayne syndrome, Back to previous page. Synonyms GeneralDiscussion. cockayne syndrome (CS) is a rare form of dwarfism. It
    http://www.stlukes-sf.sutterhealth.org/health/healthinfo/index.cfm?section=healt

    47. ORPHANET - Rare Diseases - Orphan Drugs
    Printing version, DISEASE cockayne syndrome, Included disease(s) Cockaynesyndrome type 1 cockayne syndrome type 2 cockayne syndrome type 3, ICD Q87.1,
    http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=191

    48. Neurological Disorders: Neurodegenerative Diseases: Cockayne Syndrome
    Neurological Disorders Neurodegenerative Diseases cockayne syndrome. CockayneSyndrome. Genes and disorder. NORD cockayne syndrome. Offers
    http://www.puredirectory.com/Health/Conditions-and-Diseases/Neurological-Disorde
    Neurological Disorders: Neurodegenerative Diseases: Cockayne Syndrome
    Home Health Conditions and Diseases Neurological Disorders ... Neurodegenerative Diseases : Cockayne Syndrome google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000';
    Standard Listings
    Cockayne Syndrome
    Genes and disease provides a short description of this inherited disorder.
    NORD: Cockayne Syndrome
    Offers the synonyms, a general discussion and resources.
    Pediatric Database
    A definition of cockayne syndrome, the epidemiology, pathogenesis, pathology, clinical features, investigations and management.
    Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor PureDirectory.com uses a modified version of the Open Directory.

    49. COCKAYNE SYNDROME: Contact A Family - For Families With Disabled Children: Infor
    printer friendly, cockayne syndrome, This has lead to the recognition that incockayne syndrome ultra violet (UV) light can cause damage to the DNA.
    http://www.cafamily.org.uk/Direct/c39.html
    printer friendly COCKAYNE SYNDROME home more about us in your area conditions information ... how you can help search this site 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.

    50. COCKAYNE SYNDROME - Meaning And Definition Of The Word
    Search Dictionary cockayne syndrome Dictionary Entry and Meaning.Medical Dictionary. Definition A genetic condition characterized
    http://www.hyperdictionary.com/medical/cockayne syndrome
    English Dictionary Computer Dictionary Thesaurus Dream Dictionary ... Medical Dictionary
    Search Dictionary:
    COCKAYNE SYNDROME: Dictionary Entry and Meaning
    Medical Dictionary Definition: A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation. HOME ABOUT HYPERDICTIONARY

    51. 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...

    52. NCI: Cockayne Syndrome
    cockayne syndrome. A genetic condition characterized by short stature, prematureaging, sensitivity to light, and possibly deafness and mental retardation.
    http://www.jamesline.com/patientsandpublic/cancertypes/glossary/index.cfm?action

    53. Cockayne Syndrome - Cancer Terms And Definitions By Health Dictionary
    Definition for cockayne syndrome and other Cancer Terms by Health Dictionary. Detailsand information about cockayne syndrome and more Cancer terms. AIDS / HIV.
    http://www.health-dictionary.com/cancer_term_details/Cockayne_Syndrome
    AIDS / HIV Alzheimer's Disease Cancer Chronic Fatigue Syndrome ... Surgery Terms
    Other Resources:
    Nursing Home Resources
    Science Dictionary Home Health Care Legal Dictionary ... Doc Loan's Advice
    document.write(lday + ", " +lmonth + " " + date + ", " + year )
    Cockayne Syndrome:
    A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.
    More Cancer Terms
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    Information and definitions of the medical conditions and diseases have been taken from various reliable government publications and we have done our best to verify their accuracy. If you feel any of the definitions are incorrect or needs to be updated please contact us and we will look into it. Contact Health Dictionary - Medical and Disease Terms and Definitions
    2002-2004. All right are reserved.

    54. Health Library -
    groups. cockayne syndrome. Self Help Clearinghouse. Share and Care CockayneSyndrome Network. International network. Founded
    http://12.31.13.113/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29coc

    55. Health Library -
    cockayne syndrome. Important It is possible that the main title of thereport cockayne syndrome is not the name you expected. Please
    http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

    56. 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.]

    57. Cockayne Syndrome (a Case Report). Joshi RM, Kallapur SG, Gandhi RK, Ketkar DR,
    cockayne syndrome (a case report). Joshi RM, Kallapur SG, Gandhi RK, Ketkar DR,Mohire MD, Kulkarni VS, Patnekar PN. cockayne syndrome (a case report).
    http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1987;volume=33;issue=1

    58. :: Ez2Find :: Cockayne Syndrome
    Guide cockayne syndrome, Global Metasearch Any Language Guides, cockayne syndrome.ez2Find Home Directory Health
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    59. Penn State Faculty Research Expertise Database (FRED)
    Faculty Research Expertise Database. cockayne syndrome. cockayne syndromemay be divided into two or more distinct genetic subtypes.
    http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D003057

    60. Weber-Cockayne Syndrome - A Medical Reference Article
    Webercockayne syndrome. A Medical Medical Center. A resource with informationon over 10,000 medical topics including Weber-cockayne syndrome.
    http://www.umm.edu/dwp/007883.htm
    Weber-Cockayne syndrome
    A Medical Article provided by University of Maryland Medical Center A resource with information on over 10,000 medical topics including: Weber-Cockayne syndrome Previous Next

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