41. Endeavour: Cornelia De Lange Syndrome cornelia de lange syndrome (CdLS) is congenital, which means that it is presentfrom birth. Common physical characteristics of people with CdLS include http://corporate.endeavour.com.au/disability/cornelia_de_lange_syndrome.asp

Home About Disability About Endeavour Info For Families And Friends ... Some of the Syndromes Cornelia De Lange Syndrome What does it mean to have an Intellectual Disability? How Endeavour works alongside people Useful Links Interacting with people with Intellectual Disability Cornelia De Lange Syndrome Cornelia de Lange Syndrome (CdLS) is congenital, which means that it is present from birth. Common physical characteristics of people with CdLS include delayed growth and small stature, small head size, thin eyebrows which frequently meet at the midline, a short upturned nose, and thin, downturned lips. People with CdLS can suffer from seizures, heart defects, cleft palate, bowel abnormalities and developmental delay. Cornelia de Lange Syndrome Association (Australasia) Inc. website - http://www.cdlsaus.org

42. Open Directory - Search Results Limb Anomalies cornelia de lange syndrome. cornelia de lange syndrome Ring -A ring of web sites dedicated to cornelia de lange syndrome. http://www.ability.org.uk/Cornelia_de_Lange_Syndrome.html

Our Aims Services Stats ... Z Cornelia de Lange Syndrome Limb Anomalies - Cornelia de Lange Syndrome Cornelia de Lange Syndrome Ring - A ring of web sites dedicated to Cornelia de Lange Syndrome. Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

43. Domain Name Renewal And Web Hosting From Network Solutions cornelia de lange syndrome (CdLS) Foundation. We ve found the gene please helpus find all the children with this rare disorder. http://www.charitablechoices.org/charities/CDLSUSA/default.asp

charitablechoices.org Renew Now If you are the current registrant for this domain name* and wish to continue the registration on the domain, you must immediately renew the domain to ensure the name is not deleted from your account. Backorder If you are not the current registrant and are interested in getting this domain name, you can submit a backorder through our trusted partner, SnapNames. There is no upfront fee or risk to place a backorder. Learn More Search For Another Domain Enter a domain name: www. .com .net .org .info .biz .us * Once a domain name has been renewed, it may take up to 48 hours to be reactivated. Web hosting packages from Network Solutions Network Solutions Home Register a Domain Create a Web Site ... Service Agreement , and Legal Notice

44. Cornelia De Lange Syndrome Definition - Medical Dictionary Definitions Of Popula Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=13395

45. InspiRING - Cornelia De Lange Syndrome A ring of web sites dedicated to cornelia de lange syndrome. Some sites are doneby parents of children with CdLS. All sites must include information about http://j.webring.com/hub?ring=cdlskids

46. InspiRING - Cornelia De Lange Syndrome A ring of web sites dedicated to cornelia de lange syndrome. Most sites are doneby parents of children with CdLS. All include information about the http://j.webring.com/forum?forum=cdlskids

47. Content Is For OCRegister.com Members Only A news and information source published by the Orange County Register and FreedomOrange County Information for Orange County, California. http://www.ocregister.com/ocr/2004/08/15/sections/news/focus_in_depth/article_20

To access your requested information and much more, please sign up for FREE registration. Click here now! If you are already a member simply enter the following information: Username Password: Forgot Your Password? Click Here To access even more information including archives back to November 2002, sign up for our E-Register service. Click Here for more information! Back to ocregister.com *The following areas of OCRegister.com do not require registration: Classified ads, Marketplace, myOC.com, OCCarFinder.com, OCJobFinder.com, OCRealEstateFinder.com, community news, paid obituaries, traffic, weather, interactive tools, media partners

48. Cornelia De Lange Syndrome Articles, Support Groups, And Resources cornelia de lange syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org) http://www.medhelp.org/HealthTopics/Cornelia_de_Lange_Syndrome.html

[Health Topics A-Z] A B C D ... Z Cornelia de Lange Syndrome Support Groups: Cornelia de Lange Syndrome Foundation, Inc. Med Help International Search Medical Forums / Message Boards ... Site Map Revised: 9/7/2005

49. Cornelia De Lange Syndrome Forum cornelia de lange syndrome Gene is identified. Anonymous. on May 17, 2004.My daughter. Kimberly on Jun 17, 2004. Kimberly welcome. Tina. on Jun 17, 2004 http://www.network54.com/Forum/goto?forumid=8137

50. Cornelia De Lange Syndrome Federally Funded Research on cornelia de lange syndrome. The National Library ofMedicine PubMed. Chapter 2. Alternative Medicine and Cornelia de Lange http://www.icongrouponline.com/health/Cornelia_de_Lange_Syndrome_Ph.html

ICON Health Publications Official Health Sourcebooks Search ICON Health Titles: CORNELIA DE LANGE SYNDROME A Bibliography, Medical Dictionary, and Annotated Research Guide to Internet References (Amsterdam dwarf syndrome of de Lange; Brachman de Lange syndrome; de Lange syndrome; typus degenerativus amstelodamensis) P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Cornelia de Lange syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. Related Conditions/Synonyms Amsterdam dwarf syndrome of de Lange; Brachman de Lange syndrome; de Lange syndrome; typus degenerativus amstelodamensis

51. Cornelia De Lange Syndrome cornelia de lange syndrome (CdLS) is a rare genetic disorder that is apparent atbirth (congenital). Associated symptoms and findings typically include http://www.bchealthguide.org/kbase/nord/nord30.htm

var hwPrint=1;var hwDocHWID="nord30";var hwDocTitle="Cornelia de Lange Syndrome";var hwRank="1";var hwSectionHWID="nord30-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Cornelia de Lange Syndrome Important It is possible that the main title of the report Cornelia de Lange 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 BDLS Brachmann-de Lange Syndrome CdLS de Lange Syndrome Disorder Subdivisions None General Discussion In most individuals with the disorder, Cornelia de Lange syndrome appears to occur randomly for unknown reasons (sporadic). However, there have been some familial cases, suggesting autosomal dominant inheritance. Resources Children's Craniofacial Association 13140 Coit Road Suite 307 Dallas, TX 75240 USA Tel: 2145709099 Fax: 2145708811 Tel: 8005353643 Email: csmith@ccakids.com Internet: http://www.ccakids.com March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605

52. Cornelia De Lange Syndrome Research Homepage cornelia de lange syndrome (CdLS) Research at the Institute of Human Genetics,University of Newcastle, UK. Our mission is to pursue research on the http://www.ncl.ac.uk/ihg/cdls/

Cornelia de Lange Syndrome (CdLS) Research at the Institute of Human Genetics, University of Newcastle, UK Our mission is to pursue research on the molecular basis of Cornelia de Lange syndrome ( OMIM 122470 ) with a view to developing improved diagnosis for this disorder and ultimately for preparing the way towards alleviative therapies We are funded by the UK Community Fund and supported by the UK and Ireland Cornelia de Lange Syndrome Foundation Research breakthrough We have recently ide ntified a new gene, NIPBL, that is a major cause of CdLS. Using standard screening for point mutations we can detect mutations in 50-60% of CdLS individuals. See below for a link to the scientific paper which has just been published in the scientific journal Nature Genetics, and for a photo of the Newcastle research team that made the discovery (L to R: Tom Strachan, Judy Wang, Emma Tonkin and Steve Lisgo). Tonkin E, Wang T-J, Lisgo S, B amshad M, Strachan T (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

53. Research - The Institute Of Human Genetics - University Of Newcastle The molecular basis of cornelia de lange syndrome and the function of delangin . cornelia de lange syndrome (CdLS) is a severe developmental malformation http://www.ncl.ac.uk/ihg/research/project/629

Newcastle University The Institute of Human Genetics Research Developmental Genetics and Stem Cell Biology ... search The molecular basis of Cornelia de Lange syndrome and the function of delangin. Project Leader(s): Professor T Strachan Cornelia de Lange Syndrome (CdLS) is a severe developmental malformation syndrome characterised by mental handicap, growth retardation, distinctive facial features, limb abnormalities and abnormalities of various other organs and tissues. Individuals with CdLS can vary enormously in the extent to which they are affected. Depending on the severity of the growth retardation and developmental delay, the disorder is often described as classical (severe) or mild but these terms can represent extremes of a spectrum of characteristics. Most patients occur as sporadic cases but in rare familial cases there is evidence of autosomal dominant transmission. Our initial searches for an underlying gene were focused on a region of chromosome 3, due to the identification in Newcastle of a patient with a balanced de novo translocation involving a breakpoint at 3q26.3 and reports of phenotypic overlap between mild CdLS and individuals trisomic for 3q26-27. We identified a giant novel gene that is severed by the 3q26.3 translocation breakpoint (Tonkin et al., 2004a) but we have not been able to identify mutations in this gene in other CdLS individuals. However, we know that this giant gene contains a variety of internal genes and it is possible that one of them could still be implicated in CdLS.

54. Références Intéressantes Sur Le Syndrome Cornelia De Lange (interesting references of cornelia de lange syndrome). Par Sophie Méthot Hearing impairment in two boys with cornelia de lange syndrome. http://www.er.uqam.ca/nobel/d341460/References/ref_Cornelia.htm

Références intéressantes sur le syndrome Cornelia De Lange (interesting references of Cornelia De Lange syndrome) Par Sophie Méthot Cates, M., Billmire, D.F.. Bull, M.J.. Grosfeld, J.L. (1989). Gastroesophageal dysfunction in Cornelia de Lange syndrome. Journal of Pediatric Surgery, 24(3): 248-50 Goodban, M.T. (1993). Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. American Journal of Medical Genetics, 15; 47(7): 1059-63 Gualtieri, C.T. (1989). The differential diagnosis of self-injurious behavior in mentally retarded people. Psychopharmacological Bulletin, 25(3): 358-63 Kliewer, M.A. Kahler, S.G., Hertzberg, B.S., Bowie, J.D. (1993). Fetal biometry in the Brachmann-de Lange syndrome. American Journal of Medical Genetics, 47(7): 1035-41 Kline, A.D., Barr, M., Jackson, L.G. (1993). Growth manifestations in the Brachmann-de Lange syndrome. American Journal of Medical Genetics, 47(7): 1042-9 Sarimski, K. (1997). Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. Journal of Intellectual Disability Research,41 ( Pt 1): 70-5 Clinical Neuropathology, 18(2): 99-105

55. Cornelia De Lange Syndrome cornelia de lange syndrome (CdLS) is a rare genetic disorder that is apparent atbirth (congenital). http://my.webmd.com/hw/raising_a_family/nord30.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Cornelia de Lange Syndrome Important It is possible that the main title of the report Cornelia de Lange 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 BDLS Brachmann-de Lange Syndrome CdLS de Lange Syndrome Disorder Subdivisions None General Discussion In most individuals with the disorder, Cornelia de Lange syndrome appears to occur randomly for unknown reasons (sporadic). However, there have been some familial cases, suggesting autosomal dominant inheritance. Resources Children's Craniofacial Association 13140 Coit Road Suite 307 Dallas, TX 75240

56. Gene Discovered For Cornelia De Lange Syndrome, A Disabling Genetic Disease An international team of researchers has discovered the gene for Cornelia deLange syndrome, a disabling, multisystem genetic disease that affects an http://www.brightsurf.com/news/may_04/EDU_news_051704_b.php

Brightsurf Science News Brightsurf via RSS Science News by E-Mail Search Brightsurf News ... Definitions Get Today's Science News and Events by E-mail Enter E-mail Address Search BrightSurf.com Gene discovered for Cornelia de Lange syndrome, a disabling genetic disease May 17, 2004 An international team of researchers has discovered the gene for Cornelia de Lange syndrome, a disabling, multisystem genetic disease that affects an estimated one in 10,000 children. The finding is expected to lead to a genetic test, enabling rapid and definitive diagnosis of the syndrome, as well as prenatal testing for families who already have one child with the disease. Geneticists from The Childrenês Hospital of Philadelphia and Drexel University College of Medicine in Philadelphia led the study, which received advance online publication on May 17 on the web site of Nature Genetics. In pinpointing the gene, they used an innovative research approach that may lend itself to investigations of other genetic conditions, particularly –orphan diseases:" rare, poorly understood disorders. The lead researchers, Ian D. Krantz, M.D., of Childrenês Hospital, and Laird G. Jackson, M.D., of Drexel University College of Medicine, together maintain the worldês largest database of patients with Cornelia de Lange syndrome (CdLS), drawing on clinical records and genetic samples first gathered 30 years ago.

57. Cornelia De Lange Syndrome News, Research And Discoveries cornelia de lange syndrome news and cornelia de lange syndrome current events,research and discoveries news headlines from Brightsurf.com. http://www.brightsurf.com/isearch/index.php?action=search&s=Cornelia de Lange sy

58. UCI Medical Center News Release - Researchers Discover Gene For Cornelia De Lang Mutations giving rise to cornelia de lange syndrome occur at different locationswithin that gene. NIPBL stands for Nipped Blike, because the human gene http://www.ucihealth.com/News/Releases/CorneliaDeLangeSyndrome.htm

UCI Online UCI Medical Center Home University Children's Hospital Home Search Our Site ... Email a patient News Release Archives Online Resources Media Contacts UCI Medical Center fact sheet New Hospital Info Maps Bios: Dr. Ralph Cygan Executive Director UCI Medical Center Dr. Thomas C. Cesario ... UCI College of Medicine Researchers Discover Gene for Cornelia de Lange Syndrome, a Disabling Childhood Disease Research May Lead to Screening and Rapid Diagnosis of Disease That Can Cause Disfigurement, Mental Retardation and Death Irvine, Calif., May 17, 2004 - An international team of researchers, including biologists from UC Irvine, has discovered the gene for Cornelia de Lange syndrome, a disabling, multisystem genetic disease that affects about one in 10,000 children. The finding is expected to lead to a genetic test, enabling rapid and definitive diagnosis of the syndrome, as well as prenatal testing for families who already have one child with the disease. UCI biologists Arthur Lander and Anne Calof participated in the study, which was led by geneticists from The Children's Hospital of Philadelphia and Drexel University College of Medicine in Philadelphia. The study received advance publication on May 16 on the Web site of Nature Genetics.

59. Cornelia De Lange Syndrome Awareness Day cornelia de lange syndrome Awareness Day increasing public awareness aboutCdLS the cornelia de lange syndrome Foundation is a nonprofit family support http://www.michigan.gov/gov/0,1607,7-168-22678_25488_28109-71950--,00.html

Skip Navigation Michigan.gov Home Home Site Map ... State Web Sites document.form2.SearchCriteria.size=10; Gov. Office Hours Constituent Support Volunteering Opportunities Proclamations ... [Text Version] Cornelia de Lange Syndrome Awareness Day Whereas , The good health and general well-being of the people of Michigan is strengthened by our knowledge and understanding of birth defects, including Cornelia de Lange Syndrome (CdLS); and, Whereas , Children born with CdLS are usually low in birth weight and develop at a slower rate than other babies, both mentally and physically, and possess other physical complications; and although a cause has not yet been discovered, dedicated medical professionals are presently involved in valuable research and education activities to explore new possibilities and to offer help; and, Whereas , A leading advocate and active voice in offering parental and family support while increasing public awareness about CdLS the Cornelia de Lange Syndrome Foundation is a non-profit family support organization whose mission is reaching out, providing help and giving hope; and, Whereas , Michigan is pleased to join people throughout our country in promoting a special celebration which seeks to raise awareness of Cornelia de Lange Syndrome, designed to have a positive and productive impact on the lives of people with CdLS and their caregivers; and now therefore be it

60. Cornelia De Lange Syndrome Awareness Day cornelia de lange syndrome Awareness Day our country in promoting a specialcelebration which seeks to raise awareness of cornelia de lange syndrome, http://www.michigan.gov/gov/0,1607,7-168-22678_25488_28123-91630--,00.html

Skip Navigation Michigan.gov Home Home Site Map ... State Web Sites document.form2.SearchCriteria.size=10; Gov. Office Hours Constituent Support Volunteering Opportunities Proclamations ... [Text Version] Cornelia de Lange Syndrome Awareness Day Whereas , The good health and general well-being of the people of Michigan is strengthened by our knowledge and understanding of birth defects, including Cornelia de Lange Syndrome (CdLS); and, Whereas , Children born with CdLS are usually low in birth weight and develop at a slower rate than other babies, both mentally and physically, and possess other physical complications; and Whereas , Although a cause has not yet been discovered, dedicated medical professionals are presently involved in valuable research and education activities to explore new possibilities and to offer help; and, Whereas , A leading advocate and active voice in offering parental and family support while increasing public awareness about CdLS, the Cornelia de Lange Syndrome Foundation is a non-profit family support organization whose mission is reaching out, providing help and giving hope; and, Whereas , Michigan is pleased to join people throughout our country in promoting a special celebration which seeks to raise awareness of Cornelia de Lange Syndrome, designed to have a positive and productive impact on the lives of people with CdLS and their caregivers; and now therefore be it

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