81. Cornelia De Lange Syndrome The Cornelia de lange syndrome is a multisystem developmental disorder Strachan T. Cornelia de lange syndrome and the link between chromosomal function, http://www.humpath.com/article.php3?id_article=4157

82. Cornelia De Lange Syndrome Muhammed K, Safia B - Indian J Dermatol Venereol Lepr Two cases of Cornelia de lange syndrome with similar phenotypic features are reported Cornelia de lange syndrome (CDLS), also known as Brachman de Lange http://www.ijdvl.com/article.asp?issn=0378-6323;year=2003;volume=69;issue=3;spag

83. UCI Medical Center News Release - Researchers Discover Gene For Cornelia De Lang Researchers Discover Gene for Cornelia de lange syndrome, a Disabling Childhood Mutations giving rise to Cornelia de lange syndrome occur at different 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.

84. INFOLINK DATABASE /All Locations Click on the following to. Connect to the Home Page of Cornelia de lange syndromeSupport Group. Mailing, 33 Grenadier Drive, Thornlie, WA, 6108 http://henrietta.liswa.wa.gov.au:81/search/dConsumer Protection/dconsumer protec

NAME SUBJECT LOCATION WORD Community Records Government Records View Entire Collection Record: Prev Next Name Cornelia de Lange Syndrome Support Group Address 135 Princes Street, Putney, NSW, 2112 Click on the following to: Connect to the Home Page of Cornelia de Lange Syndrome Support Group Mailing 33 Grenadier Drive, Thornlie, WA, 6108 Telephone Tel: (08) 9452 7572 Tel: 0413 569 171 (Mobile) Email, etc. Email: ssandilands@primus.com.au Email: cdlsaust@primus.com.au Personnel State Co-ordinator and National Committee Member: Mr Stephen Sandilands, (08) 9452 7572 (Home), 0413 569 171 (Mobile) Purpose Provision of support to families with Cornelia de Lange Syndrome (CDLS) children. Provide information on the Syndrome and educational literature on developmental situations and medical implications. Promote, support and foster research into the genetic cause of this disability. Note Membership: 100 Fees, etc. Fees: $25.00 per annum Parent Cornelia de Lange Syndrome Australasia Association Updated Subject Health Diseases Self Help Groups Cornelia de Lange Syndrome Added name Cornelia de Lange Syndrome Australasia Association Record: Prev Next

85. Case Reports Cornelia de lange syndrome (Brachmann_de lange syndrome) was originally Stevenson RE, Scott CI Jr. Discordance for Cornelia de lange syndrome in twins. http://www.indianpediatrics.net/dec-99/99-dec-13.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 1999;36:1267-1270 Cornelia de Lange Syndrome: Discordance in Twins Sheela S.R. From the Department of Pediatrics, Samaritan Hospital, Kizhakkambalam P.O., Alwaye 683 562, Ernakulam District, Kerala, India. Reprint requests: Dr. Sheela S.R., `Snehanjali', Seeveli Nagar, Kaithamukku, Thiruvanthapuram 695 024, Kerala, India. Manuscript Received: March 11, 1999; Initial review completed: April 8, 1999; Revision Accepted: July 13, 1999 It is extremely rare for Cornelia de Lange syndrome to occur in one of a pair of twins; only one such case has been reported so far(1). I am reporting this case because of its rarity. Case Report A 32-year-old mother, underwent Caesa-rean section for twin pregnancy with transverse lie. The first born of twins was a female baby weighing 1500 g with a gestational age of 34 weeks. Apgar score was 6 and 9 at 1 and 5 minutes, respectively. The other twin was a perfectly normal male baby weighing 2.75 kg. The elder sibling is a normal female child who is 5 years old. There is no family history of consanguinity. Physical examination of the first twin revealed a 34 week preterm SGA baby weighing 1500 g, with a length of 38 cm and a head circumference of 27 cm. Baby was hirsute, with excess hair over the forehead and ears and upper back, with a low posterior hair line; she had bushy eyebrows and synophrys, and long curly eyelashes. The face showed anteverted nostrils and a long philtrum; the lips were thin with a small midline beak of the upper lip and a corresponding notch in the lower lip, with a downward curving of the angle of the mouth (

86. Indian Pediatrics - Editorial Cornelia de lange syndrome. A sixyear-old female child born out of nonconsanguineous Clinical diagnosis of Cornelia de lange syndrome was entertained. http://www.indianpediatrics.net/nov2002/nov-1056-1057.htm

Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2002; 39:1056-1057 Cornelia De Lange Syndrome Fig.1 Fig. 1. Hypertrichosis, bushy eyebrows meeting in the midline and typical facies. The condition is characterized by microcephaly, bushy eyebrows meeting in the midline (synophrys), hypertrichosis, marked short stature and variable mental retardation and limb abnormality. Hirsuitism is usually seen in most of the patients. There is no fixed pattern of inheritance described. However, in some of these patients duplication of long arm of chromosome 3 has been described. K.C. Aggarwal, Dinesh Singh, Department of Pediatrics, Safdarjung Hospital, New Delhi 110 029, India Home Past Issue About IP About IAP ... Subscription

87. Volunteer With Cornelia De Lange Syndrome (CdLS) Foundation, Inc. - Avon, CT Cornelia de lange syndrome (CdLS) Foundation, Inc. is located in Avon, Connecticut. http://www.volunteermatch.org/orgs/org10313.html

Skip over navigation VolunteerMatch is currently experiencing network delays More Hurricane Relief How you can help now [ Go Home Search Volunteers ... Virtual Refine Your Search Organization Name ZIP Code Distance 5 miles 10 miles 20 miles 60 miles City County Metro Area State Interest Area Everything Animals Board Development Community Crisis Support Disabled Employment Environment Hunger Hurricane Relief International Politics Religion Seniors Women City State AL AK AS AZ AR CA CO CT DE DC FM FL GA GU HI ID IL IN IA KS KY LA ME MH MD MA MI MN MS MO MT NE NV NH NJ NM NY NC ND MP OH OK OR PW PA PR RI SC SD TN TX UT VT VI VA WA WV WI WY Preferred Partners Everything AARP America's Second Harvest American Humane Assoc American Red Cross ASDVS Camp Fire USA Hands On Network Hostelling International Keep America Beautiful National CASA USA Freedom Corps Everything AmeriCorps Senior Corps Peace Corps Citizen Corps Advanced Search setSearchVis('optional'); FEEDBACK Comments or praise about this volunteer organization? Send VolunteerMatch your feedback. We want to hear from you. Share Your Feedback Organization Detail Cornelia de Lange Syndrome (CdLS) Foundation, Inc.

88. Analysis Of Cornelia De Lange Syndrome 1 Disease mapped Cornelia de lange syndrome 1 Chromosome 3 Genomic positionstartstop 187000001- Cornelia tw AND Lange tw AND syndrome tw http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U1034

89. Karger Publishers Prenatal Diagnosis of a Minor Form of Brachmannde lange syndrome by Brachmann-de lange syndrome is a congenital disease characterized by severe http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

90. 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

91. Prenatal Findings In Brachmann-de Lange Syndrome -- Bruner And Hsia 76 (5): 966 Prenatal findings in Brachmannde lange syndrome. JP Bruner and YE Hsia.Brachmann-de lange syndrome is a congenital disorder of uncertain cause http://www.greenjournal.org/cgi/content/abstract/76/5/966

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Alert me when this article is cited Alert me if a correction is posted Services 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 Bruner, J. Articles by Hsia, Y. Articles Prenatal findings in Brachmann-de Lange syndrome JP Bruner and YE Hsia Brachmann-de Lange syndrome is a congenital disorder of uncertain cause characterized by severe mental retardation, small stature, microbrachycephaly, hirsutism, limb deformities, and characteristic facies. Although more than 300 neonatal cases have been reported, a lack of specific fetal markers has precluded successful antepartum diagnosis. We describe a case of Brachmann-de Lange syndrome identified at 15 weeks' gestation by a low maternal serum alpha-fetoprotein (MSAFP) value. Sonography revealed a fetus with a posterior nuchal cystic hygroma and early-onset symmetrical intrauterine growth retardation (IUGR). The fetal karyotype was 46,XX, but the infant fulfilled the phenotypic criteria of the Brachmann-de Lange syndrome at delivery. The triad of an abnormally low MSAFP value, early-onset symmetrical IUGR, and characteristic ultrasound findings during the second trimester of pregnancy may define adequate criteria for prenatal diagnosis of Brachmann-de Lange syndrome. HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS

92. 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:

93. 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.

94. Familial De Lange Syndrome With Chromosome Abnormalities -- Falek Et Al. 37 (1): The eponym de lange syndrome is used to denote a peculiar form of mental retardation The clinical features of de lange syndrome are well established, http://pediatrics.aappublications.org/cgi/content/abstract/37/1/92

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Alert me if a correction is posted Services E-mail this article 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 Falek, A. Articles by Jervis, G. A. Pediatrics, Jan 1966, 92-101, Vol 37, No. 1 Familial de lange syndrome with chromosome abnormalities A Falek, R Schmidt and GA Jervis Georgia Mental Health Institute, Emory University, 1256 Briarcliff Road, N.E., Atlanta, Georgia. The eponym de Lange syndrome is used to denote a peculiar form of mental retardation characterized by a cluster of minor malformations. Described for the first time in 1933 by Cornelia de Lange of Amsterdam as "Typus degenerativus Amstelodamensis," the condition has attracted sporadic and cursory attention during the following three decades. It was only within the past two years that there has been a considerable renewal of interest in de Lange syndrome with the almost simultaneous publication of three extensive studies in the English and American literature. The experience of

95. De Lange, Syndrome : Sites Et Documents Francophones lange, Synonyme(s) MeSH Cornelia de lange, syndrome ; syndrome de 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. De Lange, Syndrome : Arborescences MeSH page PubMed du motclef page CISMeF du motclef http://www.chu-rouen.fr/navimesh/D/navidelangesyndrome.html

De lange, syndrome : arborescences MeSH Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF maladies du système nerveux manifestations neurologiques manifestations neuro-comportementales retard mental ... Williams, syndrome 25 février 2005 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

97. CdLs UK And Ireland Facts and basic information about the CdLS syndrome Diagnostic and TreatmentProtocols. Medical information relating to the syndrome http://www.cdls.org.uk/

Information Centre Facts and basic information about the CdLS syndrome Background Articles about CdLS, growth charts and pictures Diagnostic and Treatment Protocols Medical information relating to the syndrome Email the Scientific Advisory Council, Reaching Out Book brings families together Site designed and maintained by Trident Communications

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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