41. Alagille Syndrome alagille syndrome is a genetic liver disorder usually present at birth. It ischaracterized by insufficient http://my.webmd.com/hw/health_guide_atoz/nord473.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 You are in Medical Library Choose a Topic Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Alagille Syndrome Important It is possible that the main title of the report Alagille 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 AHD Arteriohepatic Dysplasia Cholestasis with Peripheral Pulmonary Stenosis Syndromatic Hepatic Ductular Hypoplasia Disorder Subdivisions None General Discussion Alagille syndrome is a genetic liver disorder usually present at birth. It is characterized by insufficient passage of bile due to a lower than normal number of bile ducts inside the liver. In some cases, the child may be born with no bile ducts. Major symptoms include prolonged yellow skin discoloration (jaundice), eye and heart structure anomalies, abnormally shaped vertebrae of the spine, compression of nerve space inside the lower spine, an absence of deep tendon reflexes, mental deficiency, facial and kidney (renal) abnormalities, shortened fingers, and pancreatic insufficiency. Resources The Arc (a national organization on mental retardation)

42. SupportPath.com: Alagille Syndrome SupportPath.com leads you to Internet resources for supportrelated informationon hundreds of health, personal, and relationship topics. http://www.supportpath.com/sl_a/alagille_syndrome.htm

Alagille Syndrome Also called: Arterio-hepatic dysplasia Other topics of interest on SupportPath.com: Liver Disease Rare Disorders About Us Add-A-Link ... here Online Communities / Message Boards... The Alagille Syndrome Message Board Website: http://members4.boardhost.com/agswebmaster/ Description: Part of the Alagille Syndrome Alliance . See their Bulletin Board Homepage for more information. Date Added: 04/29/2002 Online Chats... Note: Regularly scheduled chats are listed on our NEW Online Events Calendar Links in this section are primarily to chat rooms open 24/7 which may or may not be moderated. Chat Room Central Website: http://www.alagille.org/chatroom.html Description: Part of the Alagille Syndrome Alliance , this page has a link to their chat room and a chat schedule. Date Added: 07/23/2002 Usenet Groups... Note: Your browser must be properly configured to access Usenet groups from this site. None Listed Mailing Lists... None Listed National / International Organizations... INTERNATIONAL Genetic Alliance Website: http://www.geneticalliance.org/

43. Alagille Syndrome alagille syndrome is a genetic disorder that mimics other forms of prolongedliver disease Children with alagille syndrome usually have a liver disease http://ww3.komotv.com/global/story.asp?s=1230375

44. Alagille Syndrome Notes for physicians on alagille syndrome (Arteriohepatic Dysplasia, AHD) covering Last updated in February 2005. alagille syndrome / genetics; http://omni.ac.uk/browse/mesh/D016738.html

low graphics Alagille Syndrome broader: Abnormalities, Multiple other: Angelman Syndrome Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome Cockayne Syndrome ... GeneReviews : Alagille syndrome Notes for physicians on Alagille Syndrome (Arteriohepatic Dysplasia, AHD) covering diagnosis, clinical description, differential diagnosis, management, molecular genetics and genetic counselling. Revised during May 2000, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Last updated in February 2005. Alagille Syndrome / genetics Last modified: 02 Sep 2005

45. Genome.gov | Talking Glossary: "Alagille Syndrome" Easyto-use, talking glossary of genetic terms, produced by the National HumanGenome Research Institute. http://www.genome.gov/glossary.cfm?key=Alagille syndrome

46. Search Result For "Alagille Syndrome" NOAH pages containing alagille syndrome . Displaying 15 of 335 AlagilleSyndrome Alliance; American Liver Foundation; Connecticut Chapter; http://www.noah-health.org/search/results.php?lang=1&keyword=Alagille Syndrome&d

47. Alagille Syndrome - Children's Hospital Boston Home alagille syndrome. Flower alagille syndrome. Programs that treat this condition.Center for Childhood Liver Disease. Unfortunately, at this time, http://www.childrenshospital.org/az/Site774/mainpageS774P0.html

or find by letter: A-F G-L M-R S-Z My Child Has... Home Alagille Syndrome Alagille Syndrome Programs that treat this condition Center for Childhood Liver Disease Unfortunately, at this time, we are not able to provide information about this condition or procedure. However, we will be frequently adding and updating information in Child Health A to Z. So please bookmark this site and visit us again soon. Children's Hospital Boston is the primary pediatric teaching hospital of Harvard Medical School Contact Us Privacy Accessibility Give Now Children's Hospital Boston 300 Longwood Avenue Boston MA 02115

48. Alagille Syndrome, AHD, Arteriohepatic Dysplasia, Cholestasis With alagille syndrome, AHD, Arteriohepatic Dysplasia, Cholestasis with PeripheralPulmonary Stenosis, Syndromatic Hepatic Ductular Hypoplasia,alagille syndrome, http://www.icomm.ca/geneinfo/alagille.htm

49. Abdominal Coarctation And Alagille Syndrome -- Quek Et Al. 106 (1): 9 -- Pediatr Key words alagille syndrome, abdominal coarctation. alagille syndrome (AS)1,2is a genetic disorder3 inherited in an autosomal dominant fashion. http://pediatrics.aappublications.org/cgi/content/full/106/1/e9

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Alert me to new issues of the journal Add to My File Cabinet ... Download to citation manager PubMed Articles by Quek, S. C. Articles by Quak, S. H. Related Collections Surgery PEDIATRICS Vol. 106 No. 1 July 2000, p. e9 ELECTRONIC ARTICLE: Abdominal Coarctation and Alagille Syndrome Swee Chye Quek, MBBS, MMED(PAED), DCH(Lond), FACC FAMS*; Lenny Tan, MBBS, FRCR FRACR, FAMS Swee Tian Quek, MBBS, FRCR William Yip, MBBS, MD, FRCP FAMS*; Marion Aw, MBBS, MMED(PAED), MRCP and Seng Hock Quak, MBBS, MD, FRCP(Glasg), FRCPCH From the Department of Pediatrics, Division of Cardiology, National University of Singapore, and Department of Diagnostic Imaging, National University Hospital, Singapore, Singapore. ABSTRACT Top Abstract Discussion Conclusion References Structural cardiac defects such as peripheral pulmonary stenosis are well-described in Alagille syndrome (AS), which is transmitted in an autosomal dominant inheritance. The genetic defect, with

50. Moyamoya Syndrome In Children With Alagille Syndrome: Additional Evidence Of A V We present two children with sporadic alagille syndrome who also suffered A 2month-old Caucasian girl was diagnosed with alagille syndrome when she http://pediatrics.aappublications.org/cgi/content/full/103/2/505

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Extract Full Text (PDF) P ... Citation Map 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 ... Cited by other online articles PubMed PubMed Citation Articles by Woolfenden, A. R. Articles by Farrell, K. Related Collections PEDIATRICS Vol. 103 No. 2 February 1999, pp. 505-508 EXPERIENCE AND REASON: Moyamoya Syndrome in Children With Alagille Syndrome: Additional Evidence of a Vasculopathy Alagille syndrome (arteriohepatic dysplasia) is a congenital disorder that can affect the liver, heart, eye, skeleton, and facial appearance. It is associated with bile duct paucity and is an important cause of neonatal jaundice and cholestasis in older children. The most common cardiac malformation associated with Alagille syndrome is peripheral pulmonary stenosis. This syndrome has an autosomal dominant inheritance with variable penetrance, although sporadic cases are common.

51. RCH Ward 5 West : Alagille Syndrome The complete expression of Alagille s Syndrome includes five major features Recent research shows that Alagille s Syndrome is due to a defect in a gene http://www.wch.org.au/ward5west/index.cfm?doc_id=795

52. Alagille Syndrome Information alagille syndrome is a multisystem hereditary disorder. alagille syndromeis named after the French pediatric liver specialist who first recognized the http://www.liversociety.org/html/alagille_syndrome.html

Home Liver Health Liver Diseases Liver Disorders ... Liver Transplants Alagille Syndrome What is Alagille syndrome? Alagille syndrome is a multi-system hereditary disorder. It often presents with clinical symptoms involving the liver during infancy and early childhood. Alagille syndrome is named after the French pediatric liver specialist who first recognized the clinical features of the syndrome. Seen throughout the world in many races, Alagille syndrome is more commonly reported in boys, although girls are also affected. Alagille syndrome is the most common form of the inherited disorders which cause reduced bile flow within the liver. Genetic research of the chromosomes of patients with Alagille syndrome has found mutations in the Jagged 1 gene. Diagnosis The diagnosis of Alagille syndrome usually depends upon finding several different components of the syndrome in an individual. The classic syndrome involves five distinct findings, including: Chronic cholestasis (reduced bile flow). Symptoms usually begin in infancy with jaundice, itching, and cholesterol deposits in the skin (xanthomas). A liver biopsy shows that there are not enough bile ducts within the liver. Congenital heart disease. Usually peripheral pulmonic stenosis, although other heart disorders such as Tetralogy of Fallot and coarctation of the aorta have been reported.

53. Alagille Syndrome alagille syndrome is an inherited disorder that mimics other forms of prolongedliver disease seen in infants and young children. http://digestive-disorders.health-cares.net/alagille-syndrome.php

54. Treatment Of Alagille Syndrome Treatment of alagille syndrome is based on increasing the flow of bile from theliver, maintaining normal growth and development. http://digestive-disorders.health-cares.net/alagille-syndrome-treatment.php

55. Alagille Syndrome alagille syndrome (AGS; Mendelian Inheritance in Man 118450) was described morethan 30 years ago as a genetic entity characterized by five major f http://www2.dekker.com/sdek/105723233-98525962/abstract~content=a713544890~db=en

@import "/dek/cache/stylesheet_enc_enclf.css"; Customer Service Contact Us Request Catalog FAQs Keyword search Home Login My Dekker TOC ... Encyclopedia List Username: Password: who am i logout forgotten details cancel ... What is RSS? To contact Dekker customer service by phone, please phone Generate Citation Alagille Syndrome Add/remove item from lists: My Marked Items add close Published in: Encyclopedia of Medical Genomics and Proteomics For online pricing and information on special print/online bundling discounts, please call 1-888-318-2367 OR email: e-reference@taylorandfrancis.com. Authors: Pages: DOI: 10.1081/E-EDGP-120025765 Published on: 09/Dec/2004 URL: Link to this Section Abstract ) gene, none corresponding to the intracellular part of the protein. mutations are identified in roughly 70% of patients meeting criteria for AGS leaving 30% of patients with no detectable alteration of the coding sequence. As most often in human disease there is no genotype/phenotype correlation. The expression pattern of had enabled the manifestations already observed to be explained and to open a field for investigations to evidence other system involvement. The role of the Notch signaling pathway during normal liver and bile duct development is still unclear and the mechanism of action of the mutated gene remains to be elucidated. (5) Haploinsufficiency is supported by the entire deletion of

56. Alagille Syndrome - FISH Analysis The Kleberg Cytogenetics Laboratory offers a fluorescence in situhybridization (FISH)based assay for identifying the microdeletion on the short arm of http://www.bcmgeneticlabs.org/tests/cyto/alagille.html

ALAGILLE SYNDROME FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the microdeletion on the short arm of chromosome 20 associated with Alagille syndrome. Clinical Features: Alagille syndrome is an autosomal dominant disorder characterized by intrahepatic cholestasis and abnormalities of the heart, eye, vertebrae and kidney, as well as a characteristic facial appearance. There is a high rate of new mutation (50-60% of cases) and considerable phenotypic variability. Reasons for Referral: Patients with clinical features suggestive of Alagille syndrome may be tested for microdeletions of 20p12 by FISH. Since there is considerable variability in this syndrome, testing of first-degree relatives of an affected individual (FISH positive) may be warranted. Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and shown to have a deletion detectable by FISH. Please call regarding all prenatal samples.

57. Vascular Anomalies In Alagille Syndrome: A Significant Cause Of Morbidity And Mo Background— alagille syndrome (AGS) is a dominantly inherited multisystem disorderinvolving the liver, heart, eyes, face, and skeleton, caused by mutations http://circ.ahajournals.org/cgi/content/abstract/109/11/1354

Published online before print March 1, 2004, doi:10.1161/01.CIR.0000121361.01862.A4 This Article Full Text Full Text (PDF) All Versions of this Article: most recent 01.CIR.0000121361.01862.A4v1 Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Kamath, B. M. Articles by Krantz, I. D. Related Collections Aneurysm, AVM, hematoma Other Vascular biology Acute Cerebral Hemorrhage Acute Cerebral Infarction ... Carotid Stenosis Circulation. Clinical Investigation and Reports Vascular Anomalies in Alagille Syndrome A Significant Cause of Morbidity and Mortality Binita M. Kamath, MBBChir Nancy B. Spinner, PhD Karan M. Emerick, MD Albert E. Chudley, MD Carol Booth, MD David A. Piccoli, MD Ian D. Krantz, MD Received October 7, 2003; revision received December 10, 2003; accepted January 5, 2004. Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, face

58. Circulation -- Sign In Page Vascular anomalies in alagille syndrome a significant cause of morbidity andmortality Bleeding tendency in children with alagille syndrome. Pediatrics. http://circ.ahajournals.org/cgi/content/full/110/13/e327

This item requires a subscription to Circulation Online. Full Text Vascular Anomalies in Alagille Syndrome Response Hadchouel et al. Circulation. This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Hadchouel, M. Articles by Booth, C. Related Collections Other Ethics and Policy Angiogenesis Genetics of Stroke Stroke in Children and the Young To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 1 day for US$15.00 Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

59. HighWire -- Browse Journals - Alagille Syndrome Browse Journals publishing on alagille syndrome, (return to Topic List page) Alphabet, , Frequency of articles in alagille syndrome http://highwire.stanford.edu/lists/topic_dir/608683/608684/615888/615939/615960/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Alagille Syndrome: (return to Topic List page) Alagille Syndrome Sort by: Alphabet Frequency of articles in Alagille Syndrome Focus of journal on Alagille Syndrome What's this? Journals focusing on Alagille Syndrome (in order by highest focus) Circulation info free ISSUES Development ... Intrahepatic Cholestasis Alagille Syndrome Home Adv. Search For Institutions For Publishers ... partners/suppliers

60. Alagille Watson Syndrome alagille syndrome, sometimes called arteriohepatic dysplasia, is an autosomaldominant disease with highly variable expressivity. http://ibis-birthdefects.org/start/alagsyn.htm

Alagille Watson Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Notice! For more about parental and patient support resources explore Support Groups . For general sources of information see Professional Associations and Information Sources AHD Alagille - Watson Syndrome Arteriohepatic Dysplasia AWS Cholestasis With Peripheral Pulmonary Artery Stenosis Syndromatic Hepatic Ductular Hypoplasia Notice: You may consider searching for Liver or Hepatic disorders Special Resources Alagille Watson Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Japanese] [Ukrainian] [*] [P] Alagille Syndrome from GENE Clinics by Lynn Bason, MS, et al., January 5, 2000 Clinical Finding, % of Patients: Bile duct paucity, 85% Chronic cholestasis, 96% Cardiac murmur, 97% Eye findings, 78% Vertebral anomalies, 51% Characteristic facies, 96% Renal disease, 40%

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