81. Mental Retardation Angelman Syndrome U. of Reading. cockayne syndrome Search PUBMED for CockayneSyndrome All Review Therapy Diagnosis; cockayne syndrome Med. Coll. http://www.ohsu.edu/cliniweb/C10/C10.496.html

Mental Retardation Back to previous level Angelman Syndrome Search PUBMED for Angelman Syndrome: All Review Therapy Diagnosis ... Angelman Syndrome: U. of Reading Cockayne Syndrome Search PUBMED for Cockayne Syndrome: All Review Therapy Diagnosis ... Cockayne syndrome: Med. Coll. of Wisconsin Cri-du-Chat Syndrome Search PUBMED for Cri-du-Chat Syndrome: All Review Therapy Diagnosis ... Cri-du-Chat Syndrome: OMIM De Lange's Syndrome Search PUBMED for De Lange's Syndrome: All Review Therapy Diagnosis Down Syndrome Search PUBMED for Down Syndrome: All Review Therapy Diagnosis ... Wormian bones: Med. Coll. of Wisconsin Fragile X Syndrome Search PUBMED for Fragile X Syndrome: All Review Therapy Diagnosis ... Gangliosidoses [3 more specific term/s, 3 more link/s] Search PUBMED for Gangliosidoses: All Review Therapy Diagnosis Gaucher's Disease Search PUBMED for Gaucher's Disease: All Review Therapy Diagnosis ... Gaucher's Disease: U. of Pittsburgh Med. Ctr. Hallervorden-Spatz Syndrome Search PUBMED for Hallervorden-Spatz Syndrome: All Review Therapy Diagnosis ... Hallervorden-Spatz disease: Med. Coll. of Wisconsin Hartnup Disease Search PUBMED for Hartnup Disease: All Review Therapy Diagnosis Homocystinuria Search PUBMED for Homocystinuria: All Review Therapy Diagnosis ... Arachnodactyly: Med. Coll. of Wisconsin

82. GENATLAS CITATION DATABASE 1999, Alterations in the CSB gene in three italian patients with the severeform of cockayne syndrome (CS) but without clinical photosensitivity. http://bisance.citi2.fr/cgi-bin/biblio?symb=ERCC6&wher=2

83. Searchalot Directory For Cockayne Syndrome Related Web Sites. cockayne syndrome Genes and disease providesa short description of this inherited disorder. NORD - Cockayne http://www.searchalot.com/Top/Health/ConditionsandDiseases/NeurologicalDisorders

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Neurological Disorders ... Neurodegenerative Diseases : Cockayne Syndrome Related Web Sites 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. Related Categories Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo!

84. Oren 2 Griscelli Syndrome. Xeroderma Pigmentosum and cockayne syndrome 1 XerodermaPigmentosum (XP). 2 cockayne syndrome (CS) Type I. 3 cockayne syndrome Type II. http://www.homepages.hetnet.nl/~b1beukema/ziekoren.html

Oren; Ogen; Huid; Ingewanden Oren : Waardenburg Syndrome Type I Waardenburg Syndroom Type IIA Waardenburg Syndroom Type IIB ... Congenital Sensorineural Deafness, X-linked, Ogen : Color Vision and its Genetic Defects : A Red-Green defects Protanopia Deuteranopia 3 Protanomaly 4 Deuteranomaly B Blue-Yellow Defects : Tritanopia Tritanomaly C Achromatopsias : Complete Rod Monochromacy 2 Atypical rod monochromacy Blue cone monochromacy 4 Various rare cone and cone-rod dystrophies Retinitis Pigmentosa : Retinitis Pigmentosa, X-linked, recessive Retinitis Pigmentosa, Y-linked Retinitis Pigmentosa, Late Adult Onset Choroideremia ; Choroideremia Norrie Disease : Norrie Disease Huid : Albinism : Oculocutaneous Albinism OCA 1 : Tyrosinase-Related Oculocutaneous Albinism 2 OCA 1A : Tyrosinase-Negative OCA 3 OCA 1B : Yellow OCA 4 OCA 1MP : Minimal Pigment OCA OCA 2 : Tyrosinase-Positive OCA Brown OCA 7 Red or rufous OCA Autosomal dominant OCA Ocular Albinism : OA 1 ( Ocular Albinism, X-linked )

85. POSTER96_16.HTML Cataract in cockayne syndrome Early Onset and Classic. Rosane C. Ferreira, MD*;Elizabeth R. Roeder, MD**;. Ocular and genetic features of Cockayne's syndrome. http://med-aapos.bu.edu/pappostp5/poster96_16.html

Cataract in Cockayne Syndrome: Early Onset and Classic Rosane C. Ferreira, MD*; Elizabeth R. Roeder, MD**; J. Bronwyn Bateman, MD* *Department of Ophthalmology, The Children's Hospital, University of Colorado School of Medicine, Denver, CO; **Medical Genetics/Prenatal Detection, Valley Children's Hospital, UCSF, Fresno, CA INTRODUCTION: Cockayne syndrome (CS) is a heterogeneous autosomal recessive disorder with the common features of a progressive neurodegeneration associated with microcephaly, ataxia, intracranial calcification, dwarfism, sensorineural deafness and photosensitivity. Common ocular findings include enophthalmos, hyperopia, poor pupillary dilation, cataract and retinitis pigmentosa. Classic CS has its onset with growth failure after the first year of life. Early-onset CS is characterized by intrauterine growth failure and severe neurologic dysfunction from birth. We report cataract in one patient with the early-onset CS and in three with classic CS. METHODS: Four patients with CS underwent complete ophthalmologic evaluation; electroretinogram (ERG) was performed in all. The diagnosis was made on the basis of physical features and the ERG.

86. Individual Syndrome Web Site Template Page cockayne syndrome. OMIM Citation Direct Link. NORD Human Growth Foundation. CockayneSyndrome Support Group (Snail Mail, UK). Mailing List Recruitment (Mailto). http://georgia.ncl.ac.uk/URODwSMLS/IWS/Cs/Cockayne.html

Cockayne Syndrome OMIM Citation Direct Link NORD - Human Growth Foundation Alliance of Genetic Support Groups Directory Mental Health Net Self Help ... Mailing List Recruitment (Mailto:) Welcome message, encouragement to contribute Return to C's Return to Index Link to Webmaster

87. Xpmutations.org - Database Of Allelic Variations Of XP Genes and other allelic variations of the genes involved in the DNA repair disorders,Xeroderma Pigmentosum (XP), cockayne syndrome (CS), Trichothiodystrophy (TTD http://xpmutations.org/

PURPOSE This website hosts an interactive repository of mutations and other allelic variations of the genes involved in the DNA repair disorders, Xeroderma Pigmentosum (XP), Cockayne Syndrome (CS), Trichothiodystrophy (TTD), and other UV-sensitivity disorders. RESOURCES Educational module of the molecular biology of Nucleotide Excision Repair Introduction to the DNA Repair disorders (XP, CS, TTD, UVs) Background on each of the XP genes A searchable database of mutations and sequence variations for the XP genes Contact point for the submission of new mutation data Discussion Forums and a Guest Book Web Links to Additional Resources This site sponsored by the Xeroderma Pigmentosum Society, Inc. www.xps.org PUBLICATION This website supports the publication: James E. Cleaver, Larry H. Thompson, Audrey S. Richardson, and J. Christopher States. A Summary of Mutations in the UV-Sensitive Disorders: Xeroderma Pigmentosum, Cockayne Syndrome, and Trichothiodystrophy. Human Mutation link to article This website is designed for information and research purposes. Although every effort has been made to ensure accuracy, we recommend that original publications also be consulted for any further research. No expressed or implied warranty is assured. Any errors should be directed to the author as indicated in the Contact Us page. Additional information on any cell lines mentioned in this website, and any new examples, are welcomed and should also be directed to the authors.

88. DermIS / Main Menu / DOIA / Cockayne´s Syndrome / Images cockayne´s syndrome / images http://www.dermis.net/bilddb/diagnose/englisch/i009925.htm

HOME DOIA PeDOIA Skincancer ... DOIA Cockayne´s Syndrome images images for the diagnosis 'Cockayne´s Syndrome' sitesearch: DermIS - Dermatology Information System

89. Cockayne's Syndrome Handbook cockayne's syndrome Handbook. Please Email comments to DBBusch@aol.com.THE cockayne'S syndrome HANDBOOK What is cockayne's syndrome? http://members.aol.com/DBBusch/shareandcare.cshandbook.html

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.

90. Cockayne, Syndrome : Arborescences MeSH Translate this page cockayne, syndrome. achondroplasie C05.116.099.343.110 page CISMeF du motclefcockayne, syndrome C05.116.099.343.250 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navicockaynesyndrome.html

Cockayne, Syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF appareil locomoteur, maladies os, maladies dysplasies os nanisme ... nanisme hypophysaire 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

91. Cockayne's Syndrome (www.whonamedit.com) cockayne's syndrome Symptom complex with long list of clinical features, includingdwarfism with disproportionately long extremities and large hands and feet http://www.whonamedit.com/synd.cfm/1182.html

Home List categories Eponyms A-Z Biographies by country ... Contact Cockayne's syndrome Also known as: Neill-Dingwall syndrome Synonyms: Progeria-like syndrome, progeroid nanism. Associated persons: Edward Alfred Cockayne Mary M. Dingwall Catherine A. Neill Description: Symptom complex with long list of clinical features. Main characteristics are dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose giving the patient a prematurely old appearance, sparse hair, mental retardation, sensorineural deafness, blindness due to retinal degeneration, coarse voice, deep eyes, prognathism, thickened skull, hypersensitivity of the skin to sunlight with pigmentation and scarring, unsteady gait, dental caries appearing during the second year of life, progressive upper motor neurone and cerebellar dysfunction, lack of subcutaneous fat of the face. Two distinct types of CS have been identified. CS type I is the classic and most common form. CS type II is more severe and characterized by the early onset of symptoms. Even though no two children with CS are identical, they often resemble each other more than they resemble their unaffected siblings because of the distinguishing characterists of the syndrome, especially as they get older. Condition of unknown pathogenesis which usually presents in the 2nd year of life after normal infancy. Inheritance is autosomal recessive.

92. Service Page - Pathologie Information Translate this page MALADIE cockayne, syndrome de, Maladie(s) incluse(s) cockayne type 1, syndromede cockayne type 2, syndrome de cockayne type 3, syndrome de, CIM Q87.1, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=191

93. Cockayne's Syndrome - General Practice Notebook medical information from General Practice Notebook. cockayne's syndrome.cockayne's syndrome is a very rare autosomal recessive degenerative http://www.gpnotebook.co.uk/cache/-825229288.htm

Cockayne's syndrome Cockayne's syndrome is a very rare autosomal recessive degenerative disease characterised by cutaneous, ocular, neurologic and somatic abnormalities. Cutaneous findings include photosensitivity, diffuse hyperpigmentation and loss of subcutaneous fat. Ocular findings include cataracts, optic atrophy and a characteristic "salt and pepper" appearance of the retina. Neurologic findings include deafness, peripheral neuropathy, normal pressure hydrocephalus and microcephaly. The pathogenesis of the neurological dysfunction is thought to be dysmyelination. Somatic abnormalities include cachectic dwarfism - height and weight are usually below the third percentile for age. Click here for more information...

94. Cockayne's Syndrome cockayne's syndrome,, Print this article, (Edward Alfred cockayne, 1880–1956,English physician), inherited, autosomal recessive leukodystrophy. http://www.amershamhealth.com/medcyclopaedia/Volume VI 1/COCKAYNES SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Cockayne's syndrome, (Edward Alfred Cockayne, 1880–1956, English physician), inherited, autosomal recessive leukodystrophy . Pathologically the disease is characterized by demyelination in a patchy fashion with preservation of areas of normal myelin; sudanophilic lipids may be found together with astrogliosis and calcium deposition mainly perivascularly. Symptoms present in infancy and are characterized by ataxia, delayed development and progressive spasticity. CT and more usually MR show extensive areas of demyelination with increased T2 signal on MR T2-weighted images; calcification may be present in the basal ganglia and cerebellum. GS The Encyclopaedia of Medical Imaging Volume VI:1 Welcome to Medcyclopaedia.

95. Cockayne's Syndrome one click For Medical Professionals only. cockayne's syndrome,, Printthis article, (Edward cockayne, 1880–1956, British paediatrician http://www.amershamhealth.com/medcyclopaedia/Volume VII/COCKAYNES SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Cockayne's syndrome, (Edward Cockayne, 1880–1956, British paediatrician and dermatologist), progressive growth failure with short stature, developmental delay and progressive neurological dysfunction. There are often cutaneous abnormalities, progressive pigmented retinopathy, dental caries and sensineuronal hearing loss. Radiologically there is microcephaly with a thick cranial vault and a small sella turcica. Intracranial calcification occurs in the basal ganglia and subcortical white matter, cerebellum and pineal glands. Brain atrophy is common. Inheritance is autosomal recessive. HC The Encyclopaedia of Medical Imaging Volume VII Welcome to Medcyclopaedia.

96. Xeroderma Pigmentosum Contact Information Lab, Biochemical Pathology Division, Armed Forces Institute of Pathology This labortoryprovides the only clinical testing for cockayne's syndrome and XP that http://www.xps.org/contacts.htm

Contacts Home About XP About the ... XP Society Contacts Links News Research and ... [Archives] How to learn more From the XP Society xps@xps.org Please remember to include sufficient information to allow us to contact you. This is particularly important if you do not have your own e-mail account. Telephone or Fax: 1 (518) 851- 2612 Toll free (within US): 1 (877) XPS-CURE The toll free number reaches our Poughkeepsie office which is only staffed on Wednesday, 2 to 4pm EST. At all other times, messages are recorded and checked regularly. Regular mail of a contribution or letter, please address to: Xeroderma Pigmentosum Society Inc 437 Snydertown Road Craryville, N.Y. 12521 USA E-mail mailing list: XP-Connection XPS newsletter XP Report is published several times a year. Join the XP Society to get on the mailing list, or view recent issues on line. Speakers Bureau The XP Society strives to keep the public informed about XP, current research, and XPS activities. Most talks have, as a practical matter, been local to XPS headquarters. the XP Society to arrange something in your area.

97. Cockayne (syndrome De) Translate this page cockayne (syndrome de). voir également progeria, nystagmus, chorée, athétose. Lesyndrome de cockayne fait partie des leucodystrophies soudanophiles. http://www.vulgaris-medical.com/textc/cockayne.htm

Cockayne (syndrome de) En anglais : Cockayne’s syndrom. Retard mental Radio Les os de la main (carpe) et ceux du pied (tarse) seront un peu trop volumineux. Le scanner L’IRM Evolution et complications Troubles hormonaux (de l’hormone de croissance, de l’insuline).

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