61. 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

62. 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.

63. 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.

64. Penn State Faculty Research Expertise Database (FRED) Brachmannde lange syndrome, Cornelia de lange syndrome. De Lange s Syndrome,Typus Degenerativus Amstelodamensis. Amstelodamensis, Typus Degenerativus http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D003635

65. Cornelia De Lange Syndrome AKA de lange syndrome or Brachmannde lange syndrome. Definition; Epidemiology;Etiology; Clinical Manifestations; Treatment; Prognosis; Reference Page http://www.dpo.uab.edu/~birmie/cdl.htm

CORNELIA DE LANGE SYNDROME (CDS) AKA: de Lange Syndrome or Brachmann-de Lange Syndrome Definition Epidemiology Etiology Clinical Manifestations ... Reference Page Definition: a congenital disorder characterized by the symptoms listed below. Epidemiology: Variable estimates include 1 in 10,000-60,000 newborns. Affects males and females equally and shows no geographic dominance. Etiology Most cases are sporadic, but research suggests that some cases involve a genetic component either autosomal recessive or autosomal dominant. The genetic component being possibly a duplication in the 3rd chromosome. Clinical Manifestations hypertonicity, speech delay (associated with hearing loss) with low pitched, growling monotonous sounds, mental retardation (average IQ 53) , feeding difficulties, and psychomotor retardation (decreased acquisition of skills requiring the coordination of mental and muscular activity). Craniofacial features include: long eyelashes with a continuous eyebrow (synophrys), icrobrachycephaly, a small, broad, upturned nose, a thin down turning upper lip, a long philtrum, and micrognathia (small mandible).

66. Congenital, Hereditary, And Neonatal Diseases And Abnormalities Cornelia de Lange (Bachmannde Lange) Syndrome Tekin and Bodurtha - eMedicine Cornelia de lange syndrome , database record - MCA/MR, NLM (US) http://www.mic.ki.se/Diseases/c16.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database -NOTE: info may be outdated!! [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [B Mertz] - Access Excellence GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com

67. De Lange Syndrome Topic - Unified Search Environment Cornelia de lange syndrome MSH/EP/D003635 CSP/ET/09447801 CSP/ET/1354-8678 CSP/ET/2403-8925 Brachmann-de lange syndrome MSH/EP/D003635 http://www.use.hcn.com.au/portals/shared/subject.`De Lange Syndrome`/home.html

De Lange Syndrome Topic Tree Definition: A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231) Synonyms and Source Vocabularies: De Lange Syndrome Cornelia De Lange Syndrome Brachmann-De Lange Syndrome Typus Degenerativus Amstelodamensis Congenital Abnormality Abnormalities, Drug-Induced Abnormalities, Multiple Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome Bloom Syndrome Cockayne Syndrome ... Congenital neurologic anomalies

68. Free Online ICD9/ICD9CM Codes And Medical Dictionary Brachmannde lange syndrome Cornelia de lange syndrome De Lange s Syndrome Typus Degenerativus Amstelodamensis Amstelodamensis, http://icd9cm.chrisendres.com/index.php?action=dictdtl&recordid=3168

69. 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

70. 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

71. Expert - Cornelia De Lange Syndrome Find Expert in Cornelia de lange syndrome Directory of Experts, Legal Consultants,Forensic Experts, and Litigation Support Services in Cornelia de Lange http://www.hgexperts.com/listing/Medical-Expert-Witness-Cornelia-de-Lange-Syndro

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72. 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

73. 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

74. HighWire -- Browse Journals - De Lange Syndrome Browse Journals publishing on de lange syndrome, (return to Topic List page) Journals focusing on de lange syndrome (in order by highest focus) http://highwire.stanford.edu:4141/lists/topic_dir/602925/602926/603021/603028/fo

THIS PREVIEW SITE IS FOR DEMONSTRATION PURPOSES ONLY details About Us Contact Us Help ... Sign in for more free features or create a free account Keywords: any all phrase more options... Authors: e.g. Smith, JS; Jones, D Citation: Year Vol Page Articles: HighWire-hosted only From My Favorite Journals only sign in All (including PubMed) Browse Journals publishing on De Lange Syndrome: (return to Topic List page) De Lange Syndrome Sort by: Alphabet Frequency of articles in De Lange Syndrome Focus of journal on De Lange Syndrome What's this? Journals focusing on De Lange Syndrome (in order by highest focus) Archives of Pediatrics and Adolescent Medicine info Journal of Medical Genetics info ... help HighWire Press is a registered trademark.

75. Cornelia De Lange Syndrome Cornelia de lange syndrome. Brachmannde lange syndrome. CDLS. Typus degenerativusAmstelodamensis. Cornelia de lange syndrome Cornelia de lange syndrome http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=84

76. J Med Genet -- Sign In Page Cornelia de lange syndrome (CdLS, also called Brachmann de lange syndrome; Dominant paternal transmission of Cornelia de lange syndrome a new case and http://jmg.bmjjournals.com/cgi/content/full/41/12/e128

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH Author Keyword(s) Vol Page [Advanced] Access to this article requires a subscription or payment. Full Text NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome Borck et al. J Med Genet. To view this item, select one of the options below: Login via Athens Login for existing subscribers User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgotten your user name or password? Subscribe Buy the article Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$12.00 SitePass - You may access all content in Journal of Medical Genetics Online (from the computer you are currently using) for 30 days for US$30.00. Regain access to an already purchased article if the access period has not yet expired. This Article Extract Full Text (PDF) Submit a response ... 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 Borck, G

77. De Lange Syndrome: Subjective And Objective Comparison Of The Classical And Mild Classical de lange syndrome presents with a striking face, The characteristicface of classical de lange syndrome is present at birth and changes little http://jmg.bmjjournals.com/cgi/content/abstract/34/8/645

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) 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 Allanson, J. E. Articles by Ireland, M. Journal of Medical Genetics, 1997, Vol 34, 645-650 ARTICLES De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes JE Allanson, RC Hennekam and M Ireland Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada. Classical de Lange syndrome presents with a striking face, pronounced growth and mental retardation, and variable limb deficiencies. Over the past five years, a mild variant has been defined, with less significant

78. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Neurological_Disor The CaF Directory A description of Cornelia de lange syndrome, its inheritancepatterns and pre-natal diagnosis. NORD - Cornelia de lange syndrome http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Neurologica

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Chromosomal : Cornelia De Lange Syndrome Subtopics See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders Search Google: Cornelia De Lange Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF).

79. State Of Idaho - Proclamation Cornelia De Lange Syndrome Awareness Day The official website of the Idaho Governor, Dirk Kempthorne. http://gov.idaho.gov/mediacenter/proc/proc03/procmay/Proc_CdLS.htm

Executive Department State of Idaho The Office of the Governor Proclamation State Capitol Boise WHEREAS, every child is valuable to our state; and WHEREAS, Cornelia de Lange Syndrome is a congenital syndrome who's common characteristics include: low birthweight (often under five pounds), slow growth and small stature, and small head size (microcephaly); and WHEREAS, CdLS is a rare and often undiagnosed syndrome; and WHEREAS, between 1:10,000 and 1:30,000 live births result in CdLS every year; and WHEREAS, undiagnosed victims of CdLS often suffer a childhood death; and WHEREAS, early detection can lead to a full and productive life for children born with CdLS; and WHEREAS, early detection hinges on public awareness of CdLS; and NOW, THEREFORE, I, DIRK KEMPTHORNE, Governor of the State of Idaho, do hereby proclaim May 10, 2003, to be CORNELIA de LANGE SYNDROME AWARENESS DAY in Idaho. IN WITNESS WHEREOF, I have hereunto set my hand and caused to be affixed the Great Seal of the State of Idaho at the Capitol in Boise on this twenty-fifth day of April in the year of our Lord two-thousand and three and of the Independence of the United States of America the two hundred twenty-seventh and of the Statehood of Idaho the one hundred thirteenth. DIRK KEMPTHORNE GOVERNOR BEN YSURSA SECRETARY OF STATE printable PDF file Governor's Homepage Contact State of Idaho

80. Indian Journal Of Dermatology, Venereology And Leprology: Cornelia De Lange Synd Access the article, Cornelia de lange syndrome.(Case Report) from Indian Journalof Dermatology, Venereology and Leprology, a publication in the field of http://www.findarticles.com/p/articles/mi_hb3310/is_200305/ai_n8004180

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Indian Journal of Dermatology, Venereology and Leprology May 2003 10,000,000 articles Not found on any other search engine. Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Save a personal copy of any page on the Web and quickly find it again with Furl.net. It's free. Get started now. Cornelia de Lange syndrome.(Case Report) Indian Journal of Dermatology, Venereology and Leprology May, 2003 by Safia, B. Content provided in partnership with Read the full article with a Free Trial of HighBeam Research Abstract Two cases of Cornelia de Lange syndrome with similar phenotypic features are reported. Key Words: Cornelia de Lange syndrome, Dwarfism

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