81. NICHD Funded Researchers Discover Gene For Cornelia De Lange Syndrome Discovery Individuals with cornelia de lange syndrome also have distinctive facial According to the study authors, cornelia de lange syndrome occurs in one of http://www.nichd.nih.gov/new/releases/cornelia.cfm

Home Search Sitemap Contact ... National Institute of Child Health and Human Development (NICHD) May 16, 2004 NICHD Funded Researchers Discover Gene for Cornelia De Lange Syndrome Discovery May Lead to Prenatal Test For Debilitating Disorder A team of researchers has discovered a gene for Cornelia de Lange Syndrome, a disorder consisting of mental retardation, heart defects and a number of physical abnormalities. The researchers were funded by the National Institute of Child Health and Human Development, one of the National Institutes of Health. The researchers expect the discovery to speed the development of a prenatal genetic test for the syndrome. A similar test will also be developed to diagnose Cornelia de Lange Syndrome in young children suspected of having the disorder. The study was published on May 16 in the online edition of Nature Genetics "The discovery of the gene for Cornelia de Lange Syndrome also offers the chance to learn more about the disorder, and perhaps to develop new treatments for it," said Duane Alexander, M.D., Director of the NICHD. The first author of the study was Ian Krantz, M.D., of the University of Pennsylvania in Philadelphia and The Children's Hospital of Philadelphia.

82. Governor Frank Murkowski cornelia de lange syndrome Awareness Day The good health and general wellbeingof the people of Alaska is strengthened by our knowledge and understanding http://gov.state.ak.us/archive.php?id=1694&type=6

83. Faculty Of 1000 Biology | Cornelia De Lange Syndrome Is Caused By Mutations In N This paper describes the molecular basis of cornelia de lange syndrome, a classicalmultiple congenital anomalies/mental retardation syndrome for which the http://www.facultyof1000.com/article/15146186

Subscription Info Institutional Access Free Trial F1000 walkthrough ... About F1000 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Krantz ID, McCallum J, ..., Devoto M, Jackson LG Nat Genet 2004 Jun "This paper describes the molecular basis of Cornelia de Lange..." Evaluated by Faculty of 1000 Biology member Andrew Wilkie (John Radcliffe Hospital, United Kingdom) To see the full evaluation, choose from the options below: Faculty of 1000 Biology Essential, rapid post-publication evaluation of the most important papers in biology by over 1900 of the world's top scientists [see a sample evaluation You can: Customize the site and receive tailored e-mail alerts [ more "This is really going to help busy scientists find the gems amongst the mounds of rubble!" Keith Roberts (John Innes Centre, UK) Personal access Existing subscribers Log in here E-mail Password Free 7 day trial Subscribe Institutional access Recommend to your librarian 80% of the world's top institutions subscribe! Log in via Athens If you are registered and have trouble logging in, email us:

84. Faculty Of 1000 Biology | Cornelia De Lange Syndrome Is Caused By Mutations In N cornelia de lange syndrome is caused by mutations in NIPBL, the human homolog ofDrosophila melanogaster NippedB. Krantz ID, McCallum J, , Devoto M, http://www.facultyof1000.com/article/15146186/evaluation

Subscription Info Institutional Access Free Trial F1000 walkthrough ... About F1000 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Krantz ID, McCallum J, ..., Devoto M, Jackson LG Nat Genet 2004 Jun "This paper describes the molecular basis of Cornelia de Lange..." Evaluated by Faculty of 1000 Biology member Andrew Wilkie (John Radcliffe Hospital, United Kingdom) To see the full evaluation, choose from the options below: Faculty of 1000 Biology Essential, rapid post-publication evaluation of the most important papers in biology by over 1900 of the world's top scientists [see a sample evaluation You can: Customize the site and receive tailored e-mail alerts [ more "This is really going to help busy scientists find the gems amongst the mounds of rubble!" Keith Roberts (John Innes Centre, UK) Personal access Existing subscribers Log in here E-mail Password Free 7 day trial Subscribe Institutional access Recommend to your librarian 80% of the world's top institutions subscribe! Log in via Athens If you are registered and have trouble logging in, email us:

85. Cornelia De Lange Syndrome - Patient UK cornelia de lange syndrome Patient UK. A directory of UK health, disease,illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/40001360/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Cornelia de Lange syndrome Describes a number of associated congenital abnormalities including: Typical facies Growth retardation Problems with feeding Delayed psychomotor development Learning difficulties Severe behavioural difficulties Skeletal malformations mainly affecting the arms and hands. Not all these are present in any one individual and severity can vary for mild to severe. Epidemiology Incidence 1 in 10-50,000 live births Risk Factors Most cases arise sporadically although it is inherited. If one child affected, 0.5-1.5% chance of another child having syndrome but 50% if parent affected. Presentation At birth: Low birth weight Neonatal hypertonicity Breathing problems Difficulties with feeding with associated failure to thrive Microcephaly Facial features (diagnostic) with at least several of the following: eyebrows meet in middle eyelashes long and curly low hairline at front and back nares tilted forward mouth turned down at angles high arched palate depressed bridge of nose small jaw.

86. The Cornelia De Lange Syndrome Foundation - Patient UK The cornelia de lange syndrome Foundation Patient UK. A directory of UK health,disease, illness and related medical websites that provide patient http://www.patient.co.uk/showdoc/27000026/

The Cornelia de Lange Syndrome Foundation 106 Lodge Lane Grays Essex Tel: 01375 376439 Web: www.cdls.org.uk The CdLS Foundation exists to ensure early and accurate diagnosis of CdLS; promote research into the causes and manifestations of the syndrome and help people with a diagnosis of CdLS to make informed decisions throughout their lifetime In the UK the Foundation is run entirely by volunteers including parents and professionals. The Foundation has its own Scientific Advisory Council (SAC) which includes medical professionals from around the world. The SAC also has a network of associate members of different disciplines in different countries who provide support and advice for people with CdLS wherever they may be. The Foundation has a helpline which is manned by volunteers. They also produce booklets and other information packs about the condition which are sent to careers and professionals to spread awareness and provide basic information about CdLS. There is no charge for people with a CdLS family member but donations of £15 a year are welcomed as a fair contribution towards the running costs of the group. Checked: March 2005 Sponsored links and adverts Patient UK has no control of the content of the following links. Inclusion does not imply endorsement by Patient UK.

87. Entrez PubMed cornelia de lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystemdevelopmental disorder characterized by growth and cognitive http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

88. OMIM - CORNELIA DE LANGE SYNDROME; CDLS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=122470

89. Cornelia De Lange Syndrome Gene Discovered, May 16, 2004 Press Release - Nationa NICHD Funded Researchers Discover Gene for cornelia de lange syndrome Discovery Individuals with cornelia de lange syndrome also have distinctive facial http://www.nih.gov/news/pr/may2004/nichd-16.htm

National Institute of Child Health and Human Development (NICHD) EMBARGOED FOR RELEASE Sunday, May 16, 2004 1:00 p.m. EDT Subscribe CONTACT: Robert Bock or Marianne Glass Duffy NICHD Funded Researchers Discover Gene for Cornelia De Lange Syndrome Discovery May Lead to Prenatal Test For Debilitating Disorder A team of researchers has discovered a gene for Cornelia de Lange Syndrome, a disorder consisting of mental retardation, heart defects and a number of physical abnormalities. The researchers were funded by the National Institute of Child Health and Human Development, one of the National Institutes of Health. The researchers expect the discovery to speed the development of a prenatal genetic test for the syndrome. A similar test will also be developed to diagnose Cornelia de Lange Syndrome in young children suspected of having the disorder. The study was published on May 16 in the online edition of Nature Genetics "The discovery of the gene for Cornelia de Lange Syndrome also offers the chance to learn more about the disorder, and perhaps to develop new treatments for it," said Duane Alexander, M.D., Director of the NICHD.

90. Deutscher Bildungsserver: Cornelia De Lange Syndrome Foundation, Inc. CDLS-USA F Translate this page cornelia de lange syndrome Foundation, Inc. (CDLS-USA Foundation). Die CDLS-USAist eine familienunterstützte Organisation, die Information und Hilfe für http://www.bildungsserver.de/instset.html?Id=6587

91. German Eduserver: Cornelia De Lange Syndrom Translate this page cornelia de lange syndrome. Arbeitskreis Cornelia de Lange - Syndrom eV detailsDas CdLS gehört zur Gruppe der etablierten http://www.bildungsserver.de/zeigen_e.html?seite=1322

92. Facts About Cornelia De Lange Syndrome - Healthfinder® This online document answers consumers questions about cornelia de lange syndrome a birth defect characterized by low birthweight (usually, http://mentalhealth.about.com/library/h/docs/bld02279.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a14' About Mental Health Resources Mental Health Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Mental Health Resources newsletter! See Online Courses Search Mental Health Resources Facts About Cornelia de Lange Syndrome internet URL http://www.cdlsoutreach.org/info/facts_about_cdls.htm sponsoring agency Cornelia de Lange Syndrome Foundation, Inc. description This online document answers consumers questions about Cornelia de Lange syndrome a birth defect characterized by low birthweight (usually, but not always, under five pounds); delayed growth and small stature; and small head size (microcephaly). Keywords: Birth Defect Children Consumer Resources Cornelia de Lange Syndrome From Leonard Holmes, Ph.D. Your Guide to Mental Health Resources FREE Newsletter. Sign Up Now! zau(256,420,100,'ri','http://z.about.com/5/o/c.htm?gs='+gs,'') Most Popular Video Bathroom Decoration Ideas Tag Sale Tips Creating a Craft Room Making a Personal Space ... See other videos at About.com

93. Cornelia Catharina De Lange (www.whonamedit.com) cornelia Catharina de lange Dutch paediatrician, born June 24, 1871, Alkmaar; Associated with Brachmannde lange syndrome,Bruck-de lange disease. http://www.whonamedit.com/doctor.cfm/1059.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Cornelia Catharina de Lange Dutch paediatrician, born June 24, 1871, Alkmaar; died January 28, 1950. Associated eponyms: Brachmann-de Lange syndrome Amstelodamensis typus degenerativus, Amsterdam degeneration type Lange, Amsterdam dwarf, congenital (embryological) malformation syndrome, typus degenerativus Amstelodamensis. Bruck-de Lange disease A congenital syndrome of muscular hypertrophy, extrapyramidal disorders, and mental deficiency. Biography: Cornelia Catharina de Lange crossed the prejudices of her time, studying to become a physician. She worked for half a century to improve the healthcare of children.

94. Cornelia De Lange's Syndrome Amsterdam dwarf syndrome of de lange; Brachman de lange syndrome. ICD9-CM 759.89Other specified anomalies (cornelia de lange s syndrome) http://www.5mcc.com/Assets/SUMMARY/TP0232.html

Cornelia de Lange's syndrome DESCRIPTION: A congenital syndrome in which severe mental retardation is associated with many abnormalities such as short stature, brachycephaly, low-set ears, webbed neck, bushy eyebrows and flat hands. Possible autosomal dominant; autosomal recessive; chromosomal mutation. CAUSES: genetic Synonyms: typus degenerativus amstelodamensis Amsterdam dwarf syndrome of de Lange Brachman de Lange syndrome ICD-9-CM: 759.89 Other specified anomalies (Cornelia de Lange's syndrome) Author(s): Mark R. Dambro, MD

95. De Lange, Syndrome : Sites Et Documents Francophones syndrome de de lange . AFSCDL - Association Française du syndrome de cornelia de lange http://www.chu-rouen.fr/ssf/pathol/delangesyndrome.html

De Lange, syndrome Définition [MeSH Scope Note ; traduction CISMeF] : Syndrome caractérisé par un retard de croissance, un retar mental sévère, une petite stature, un cri grave en grognement, une brachycéphalie, des oreilles basses, un cou plissé, une bouche en carpe, un pont nasal enfoncé, des sourcils touffus se réunissant au milieu, un hirsutisme, et des malformations des mains. La maladie peut se produire sporadiquement ou être associée à un modèle de transmission dominant autosomal ou à la duplication du bras long du chromosome 3. (d'après Menkes, Textbook of Child Neurology, 5th ed, p231) Synonyme(s) CISMeF Brachmann-de Lange, syndrome de ; Cornelia de Lange, syndrome de ; De Lange . Synonyme(s) MeSH Cornelia De Lange, syndrome ; Syndrome de De Lange Voir aussi retard mental Arborescence(s) De Lange, syndrome De Lange syndrome maladies du système nerveux maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : consultation médicale Cornelia de Lange, syndrome de

96. ACCUEIL Translate this page ASSOCIATION FRANCAISE DU syndrome de cornelia de lange. Association Loi 1901 –Journal Officiel du 16 Octobre 1996. 6 ter, rue Pasteur http://orphanet.infobiogen.fr/associations/AFSCDL/AFSCDL.html

ACCUEIL ACCUEIL QU'EST-CE QUE LE SYNDROME DE CORNELIA DE LANGE ? QUELS EN SONT LES SYMPTOMES ET LES MANIFESTATIONS ? EVOLUTION ... Nous contacter A.F.S.C.D.L ASSOCIATION FRANCAISE DU SYNDROME DE CORNELIA DE LANGE Association Loi 1901 – Journal Officiel du 16 Octobre 1996 6 ter, rue Pasteur 78330 FONTENAY LE FLEURY Tel et fax : 01 34 60 10 39 e-mail : afscdl-fr@wanadoo.fr (c) Danielle SNAKKERS Auteur : Mme Danielle SNAKKERS Date de création de la page : 16/11/2003 Date de dernière mise à jour : 03/03/2005

97. HONselect - De Lange Syndrome syndrome - Typus degenerativusAmstelodamensis - Amstelodamensis, Typus degenerativus - Brachmann de lange syndrome http://www.hon.ch/HONselect/RareDiseases/C10.271.300.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: De Lange Syndrome - Brachmann-De Lange Syndrome - Cornelia De Lange Syndrome - De Lange's Syndrome - Typus Degenerativus Amstelodamensis - Amstelodamensis, Typus Degenerativus - Brachmann De Lange Syndrome Français: DE LANGE, SYNDROME - CORNELIA DE LANGE, SYNDROME - SYNDROME DE LANGE Deutsch: De-Lange-Syndrom - Geistige Behinderung - Brachmann-De-Lange Syndrom - Cornelia-De-Lange-Syndrom Español: SINDROME DE DE LANGE - SINDROME DE BRACHMANN-DE LANGE - SINDROME DE CORNELIA DE LANGE Português: SINDROME DE DE LANGE - SINDROME DE BRACKMANN-DE LANGE - SINDROME DE CORNELIA DE LANGE HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: No Web sites: English Yes Français Yes Deutsch No Español Yes Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C10.271.300.html Last modified: Thu Jan 27 2005

98. State Of Idaho - Proclamation Cornelia DeLange Syndrome Awareness Day The official website of the Idaho Governor, Dirk Kempthorne. http://gov.idaho.gov/mediacenter/proc/proc05/procmay/Proc_CdeL.htm

Executive Department State of Idaho The Office of the Governor Proclamation State Capitol Boise WHEREAS, Cornelia de Lange Syndrome is a congenital syndrome that effects newborns and 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 very rare disease which effects between 1 in 10,000 and 1 in 30,000 live births every year, and is often an undiagnosed syndrome; and WHEREAS, undiagnosed victims of CdLS often do not survive childhood; and WHEREAS, early detection can lead to a full and productive life for children born with CdLS; and WHEREAS, Idaho’s most valuable natural resource is its children and it is necessary to promote early detection of CdLS to ensure the safety of our precious gems; NOW, THEREFORE, I, DIRK KEMPTHORNE, Governor of the State of Idaho, do hereby proclaim May 14th, 2005, to be CORNELIA de LANGE SYNDROME AWARENESS DAY in Idaho.

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