81. Database Search Results and Human Services.. Searched keywords for Cornelia de lange syndrome. Cornelia de lange syndrome Foundation, Inc. NHIC Home Page http://www.health.gov/nhic/NHICScripts/Hitlist.cfm?Keyword=Cornelia de Lange Syn

82. Références Intéressantes Sur Le Syndrome Cornelia De Lange Références intéressantes sur le syndrome Cornelia De Lange (interesting references of Cornelia de lange syndrome). 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

83. 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 http://www.innovations-report.de/html/berichte/medizin_gesundheit/bericht-29261.

Weitere Förderer des Forums Content Partner des Forums Medizin Gesundheit National Institute of Child Health and Human Development 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. Named for the Dutch physician who first described it in 1933, Cornelia de Lange Syndrome involves a complex of symptoms. These include mental retardation, self-injurious behavior, impaired growth, heart defects, hearing loss, and abnormalities of the fingers and hands. Individuals with Cornelia de Lange Syndrome also have distinctive facial features, such as thin eyebrows that meet in the middle of the forehead, long eyelashes, thin, down-turned lips, and excessive body hair. According to the study authors, Cornelia De Lange Syndrome occurs in one of every 10,000 individuals.

84. Newswise Gene Discovered for Cornelia de lange syndrome. Libraries Medical News, Keywords GENETICS CORNELIA de lange syndrome ORPHAN DISEASE. Contact Information. http://www.newswise.com/articles/view/504938/

Username: Password: forgotten login how to register ABOUT NEWSWISE Overview of Services ... How to Register Source: Children's Hospital of Philadelphia Released: Wed 12-May-2004, 06:10 ET Embargo expired: Sun 16-May-2004, 13:00 ET Printer-friendly Version Gene Discovered for Cornelia de Lange Syndrome Libraries Medical News Keywords GENETICS CORNELIA DE LANGE SYNDROME ORPHAN DISEASE Contact Information Available for logged-in reporters only Description 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. Geneticists from The Children’s 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 Children’s Hospital, and Laird G. Jackson, M.D., of Drexel University College of Medicine, together maintain the world’s largest database of patients with Cornelia de Lange syndrome (CdLS), drawing on clinical records and genetic samples first gathered 30 years ago.

85. Penn State Faculty Research Expertise Database (FRED) , Related Terms, Brachmannde lange syndrome, Cornelia de lange syndrome. De......Faculty Research Expertise Database. de lange syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D003635

86. Cornelia De Lange Syndrome (CdLS) Foundation National Conference Congress, Title Cornelia de lange syndrome (CdLS) Foundation National Conference. Contact Cornelia de lange syndrome (CdLS) Foundation. Phone 800223-8355. http://www.docguide.com/crc.nsf/congresses/9458E088B8A62CA085256E210051359A

City Guide Weather Flying Getting Around Dining ... E-Mail this resource to a colleague Congress Title: Cornelia de Lange Syndrome (CdLS) Foundation National Conference Date: June 24, 2004 - June 27, 2004 City: Chicago State/Province: IL Country: United States Contact: Cornelia de Lange Syndrome (CdLS) Foundation Phone: Fax: E-Mail: info@cdlsusa.org City Guide: Chicago Weather Current conditions Four day forecast Climate data Flying Chicago Airports Farebeater online booking Travelocity online booking Getting Around Chicago Transit Authority Taxi Rental car guide Dining Chicago dining Chicagoland Dining Guide New and Notable Restaurants Restaurant scene Shopping Chicago shopping 123 Chicago - shopping Night Life Chicago nightlife Music and clubs Night Clubs Events Special events Events calendar Center Stage Chicago Chicago calendar of events Points of Interest Landmarks Exploring Chicago attractions Lincoln Park Zoo Chicago Botanic Garden ... Chicago Cubs Recreation Sports and recreation Nature in Chicago Other Information How to use a Chicago taxi Travel tips Global Phone Nowfone Currency Converter Universal Currency Converter ATM Locator Visa ATM locator Mastercard/Cirrus ATM locator Postcards Send a postcard from Chicago

87. IHC | Forum Show Message. Name Laws Subject CORNELIA de lange syndrome Date 4/12/2003 114914 AM. Forum Threads. re CORNELIA de lange syndrome Cherie 5/12/03 152419. http://www.ihc.org.nz/news/result.asp?id=441&fid=14&tid=0

88. IHC | Forum Show Message. Name Cherie Subject CORNELIA de lange syndrome Date 5/12/03 152419. re CORNELIA de lange syndrome Cherie 5/12/03 152419 You are here. http://www.ihc.org.nz/news/result.asp?id=445&fid=14&tid=441

89. University Of California Newswire 6922 tmvasich@uci.edu. Researchers discover gene for Cornelia de lange syndrome, a disabling childhood disease. Research May Lead to http://www.ucnewswire.org/news_viewer.cfm?story_PK=3877&CFID=215175&CFTOKEN=1952

90. The Cornelia De Lange Syndrome Foundation - Patient UK The Cornelia de lange syndrome Foundation Patient UK. A directory patient information. The Cornelia de lange syndrome Foundation. http://www.patient.co.uk/showdoc.asp?doc=27000026

91. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Version pour Impression, MALADIE Cornelia de lange, syndrome de, Synonyme(s) Brachmann-de lange, syndrome de, CIM Q87.1, Ce syndrome http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=199

92. De Lange, Syndrome : Arborescences MeSH Translate this page de lange, syndrome arborescences MeSH. Menu général CISMeF. Vous pouvez aussi consulter toutes les arborescences des mots clés http://www.chu-rouen.fr/navimesh/D/navidelangesyndrome.html

De lange, syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF système nerveux, maladies manifestations neurologiques manifestations neuro-comportementales retard mental ... Williams, syndrome 18 février 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

93. Dictionary Definition Of DE LANGE'S SYNDROME Dictionary definition of de lange S syndrome. Called also brachmannde lange or cornelia delange syndrome and typus degenerativus amstelodamensis. http://www.dictionarybarn.com/DE-LANGES-SYNDROME.php

Dictionary definition of DE LANGE'S SYNDROME Browse Dictionary by alphabet A B C D ... Z Top Words de bene esse de Bordeau theory de Clerambault de Clerambault syndrome ... debrisoquine sulfate Please select first two letters of word you are looking for DA DB DC DD ... DZ fiSearchFormMaxSetId='AX006027'; Top Words debt debulk debulking of tumour debulking operation ... Home Sponsored By: Texas Flights Utah Flights Vermont Flights

94. Cornelia De Langen Oireyhtymä Cornelia de langeoireyhtymä. Brachmann-langen syndrooma CdL. Oireiston kuvasivat ensimmäisinä Cornelia de lange (1933) sekä Brachmann (1916). http://www.saunalahti.fi/kup/syndroma/cornelia.htm

Kehitysvammahuollon tietopankki Kehitysvammaisuus, kuulovamma, likinäköisyys, raajaepämuodostumat, poikkeavat kasvonpiirteet Cornelia de Lange-oireyhtymä Brachmann-Langen syndrooma CdL Keskeisimmät oireyhtymän piirteet ovat erityinen ulkonäkö, kehitysvammaisuus sekä hyvin usein kuulovamma. Oireiston kuvasivat ensimmäisinä Cornelia de Lange (1933) sekä Brachmann (1916). Oireisto on yhtä yleinen tytöillä ja pojilla. Esiintymistiheys on luokkaa 1/10.000 - 50.000 elävinä syntyneistä lapsista. Vammautumisen syynä on useimmiten satunnainen geeni-mutaatio. Virheen on arvioitu sijaitsevan kromosomissa 3 (geenikarttamerkintä 3q26.3). Vammautumisen uusiutumisriski samassa perheessä on arvioitu 2-5 %:ksi. Ulkonäölle on tunnusomaista, että kulmakarvat ovat yhteen kasvaneet, silmäluomet pitkät, hiusraja takana alhaalla, nenän ja ylähuulen väli pitkä, ylähuuli ohut ja suu alaspäin kaartuva. Kädet ovat pienet. Pikkusormet voivat olla käyrät ja peukalo saattaa sijaita normaalia taaempana. Joka neljännellä on vaikeita yläraajaepämuodostumia, raajat voivat olla lyhyet ja sormia voi puuttua. Myös alaraajat voivat olla poikkeavat. Ihokarvoitus saattaa olla kauttaaltaan lisääntynyt. Syntymäpaino ja pituus ovat alle keskiarvojen. Syöminen on alusta alkaen hankalaa (71 %:lla). Paino nousee hitaasti. Lisäksi ruuan takaisinvirtaus mahasta ruokatorveen (gastroesofagiaalinen refluksi) on lisääntynyt. Oireena voi olla lapsen levottomuus syöttöjen jälkeen. Joskus hänelle joudutaan antamaan ravintoa nenä-mahaletkun tai maha-avanteen (gastrostooma) avulla. Myös muunlaisia suoliston toiminta- tai rakennehäiriöitä voi esiintyä. Erilaisia sydämen rakennevikoja on noin 20%:lla . Kuulovammaa esiintyy 60-100 %:lla. Yli puolet vammautuneista on likinäköisiä, usein vahvasti. Virtsan takaisinvirtausta rakosta munuaisiin on noin 10 %:lla ja iho-ongelmia noin 15 %:lla. Psyykkiseltä tasoltaan vammautuneet jaetaan kahteen ryhmään. Näitä ovat klassiset de Lange-vammaiset, joista kaikki ovat psyykkisesti kehitysvammaisia (älykkyysosamäärä keskimäärin 53) sekä lievemmin vammautuneet, joiden henkinen suorituskyky lähenee normaalia.

95. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?122470

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