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         Alagille Syndrome:     more detail
  1. Alagille Syndrome by National Digestive Diseases Information Clearinghouse, 2010-03-12
  2. Alagille syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Sonja Eubanks, 2005
  3. Alagille Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
  4. Alagille Syndrome

81. Cardiovascular Genetics - Alagille Syndrome
alagille syndrome. Coming Soon!
http://www.cardiogenetics.org/alasy.asp
Alagille syndrome Coming Soon!

82. Disclaimer - Electronic Collection
In alagille syndrome, there is invariably a reduced ratio of interlobular bile The association of alagille syndrome with a deletion of the short arm of
http://collection.nlc-bnc.ca/100/201/300/cdn_medical_association/cim/vol-19/0325
You are viewing a document archived by Library and Archives Canada. Please note, information may be out of date and some functionality lost. You will be redirected in 15 seconds or follow this link to continue to the document For more information see the Electronic Collection's Web site. Vous visualisez un document archivé par Bibliothèque et Archives Canada. Veuillez noter que l’information peut être périmée et que certaines fonctions peuvent être inactives. Vous serez redirigé dans 15 secondes ou suivez ce lien pour voir le document Pour plus de renseignements veuillez consulter le site Web de la Collection électronique Last Updated: 2005-04-12 Important Notices Avis importants

83. Alagille Syndrome
alagille syndrome is an autosomal dominant, multisystem disorder with variable Syndromic paucity of interlobular bile ducts (alagille syndrome or
http://www.humpath.com/article.php3?id_article=111

84. Alagille Syndrome - St. Joseph Mercy, Ann Arbor Michigan
alagille syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor,SE Michigan, Washtenaw County, Livingston County, Wayne County,
http://www.sjmercyhealth.org/12372.cfm
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Self Help Clearinghouse
Alagille Syndrome
Alagille Syndrome Alliance This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site.
Alagille Syndrome Alliance
National network. Founded 1993.
Support network for anyone who cares about people with Alagille syndrome, a genetic liver disorder. Disseminates information. Aims to increase awareness in health professionals. Newsletter, phone support, information and referrals, scientific advisory board.
WRITE:
Alagille Syndrome Alliance
c/o Cindy L. Hahn
10500 S.W. Starr Dr.
Tualatin, OR 97062
CALL: 503-885-0455
E-MAIL: alagille@earthlink.net
WEBSITE: http://www.alagille.org

85. Glossary Of Genetic Terms
alagille syndrome . defined, A rare inherited liver disorder seen in infantsand young children. The disease is characterized by a buildup of bile in
http://life.fudan.edu.cn/inforservice/dictionary/Glossary/Alagille.htm

86. Blackwell Synergy - Cookie Absent
alagille syndrome Cutaneous Manifestations in 38 Children During the 1990s,38 children with alagille syndrome were evaluated at two pediatric centers
http://www.blackwell-synergy.com/doi/abs/10.1111/j.1525-1470.2005.22102.x
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87. UCLiC - Cholestatic Liver Disease Consortium
alagille syndrome Alpha1 Antitrypsin Deficiency Bile Acid Synthesis alagille syndrome. The Cholestatic Liver Disease Consortium is committed to
http://rdcrn.epi.usf.edu/clic/learnmore/alagille.htm
CLiC Cholestatic Liver Disease Consortium What is CLiC? Learn More Diseases We Study Glossary ... PFIC (Progressive Familial Intrahepatic Cholestasis)
Alagille Syndrome
The Cholestatic Liver Disease Consortium is committed to providing timely and useful information to both patients and physicians. Currently, this page is being updated in order to bring you the most up-to-date information. Please check back soon! Join the Registry for this Disorder Find a Study Advocacy Groups for Mitochondrial Hepatopathies Back to Menu ... Return to RDCRN Main Page

88. GEMdatabase - Selected Title
TITLE, alagille syndrome. DESCRIPTION, This review focuses on the diagnosis, and genetic counseling of patients and families with alagille syndrome.
http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=819

89. Alagille Syndrome
alagille syndrome. Definition. alagille syndrome is a genetic disorder that mimicsother alagille syndrome was first described in 1969 by D. Alagille,
http://ww2.wfaa.com/global/story.asp?s=1230375&ClientType=Printable

90. Liver Syndrome Arteriohepatic Dysplasia (Alagille Syndrome)
alagille syndrome is a genetic condition affecting 1 in 70000 newborns.Generally presenting in infancy, this condition is often misdiagnosed as biliary
http://www.fairviewtransplant.org/liver/Alagille.asp

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The Transplant Center is a partnership of the following entities: Our liver transplant program is one of the world's oldest Liver Disorders Transplant Services Website Arteriohepatic Dysplasia (Alagille Syndrome) Alagille syndrome is a genetic condition affecting 1 in 70,000 newborns. Generally presenting in infancy, this condition is often misdiagnosed as biliary atresia. Occasionally, it can escape medical attention until school age, where it appears as xanthomata (fibrous, fatty tissue or nodules under the skin) or pruritis (itching). Jaundice may or may not be present. The syndrome is marked by five major features, several of which must be present for diagnosis: cholestatic liver disease, congenital heart disease, vertebral and/or long bone anomalies, ophthalmic (eye) abnormalities and peculiar facies (facial features), such as deep-set eyes and an oversized brow. There is a 50 percent chance that people with this syndrome will pass it to their children. A prenatal diagnosis is not available.

91. Childrens Liver Disease Foundation
diseases. About this section alagille syndrome. alagille syndrome This syndrometakes its name from Professor Alagille in France.
http://www.childliverdisease.org/diseases/alagille
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About this section
Alagille Syndrome
Alagille Syndrome
Posted: 16 February 2004 Alagille Syndrome is the name given to a particular type of liver condition called biliary hypoplasia in association with at least two or other signs in other parts of the body (see below). Alagille Syndrome affects approximately one child in every 100,000 live births and occurs equally between boys and girls. This syndrome takes its name from Professor Alagille in France. He was one of the first people to recognise it in 1975. It is also sometimes called Arterio-Hepatic Dysplasia or Syndromic biliary hypoplasia.

92. Nature Genetics
alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand alagille syndrome is an autosomal dominant disorder characterized by
http://www.nature.com/ng/wilma/v16n3.866645811.html
Articles
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July 1997

TABLE OF

CONTENTS
volume 16 number 3 page 243
Alagille syndrome is caused by mutations in human , which encodes a ligand for Notch1
Linheng Li , Ian D. Krantz , Yu Deng , Anna Genin , Amy B. Banta , Colin C. Collins , Ming Qi , Barbara J. Trask , Wen Lin Kuo , Joanne Cochran , Teresa Costa , Mary Ella M. Pierpont , Elizabeth B. Rand , David A. Piccoli , Leroy Hood
gene ( ), encoding a ligand for the developmentally important Notch transmembrane receptor, to the Alagille syndrome critical region within 20p12. The Notch intercellular signalling pathway has been shown to mediate cell fate decisions during development in invertebrates and vertebrates. We demonstrate four distinct coding mutations in from four Alagille syndrome families, providing evidence that it is the causal gene for Alagille syndrome. All four mutations lie within conserved regions of the gene and cause translational frameshifts, resulting in gross alterations of the protein product. Patients with cytogenetically detectable deletions including have Alagille syndrome, supporting the hypothesis that haploinsufficiency for this gene is one of the mechanisms causing the Alagille syndrome phenotype.

93. ATLAS- Alagille
SYNDROME D ALAGILLE . alagille syndrome Additional images from the web.Xanthoma in Alagille Hand xanthoma in Alagille.
http://www.icampus.ucl.ac.be/PEDIHEPA/document/pedihepa/atlas2.htm
ATLAS PEDIATRIE
Alagille syndrome
INDEX
SYNDROME D'ALAGILLE . ALAGILLE SYNDROME Front Large, visage triangulaire Large forehead, triangular face Xanthoma due to hypercholesterolemia Paucity: absence of bile canalicule Flat face, high pitched voice Same child as in previous frame, 7 years later. Short stature, pruritus responding to Rifampycin, moderately abnormal LFT's. Additional images from the web: Xanthoma in Alagille
Hand xanthoma in Alagille

94. Alagille
Alagille. Start Omhoog. Lever Alagille Engels. alagille syndrome (2) alagille syndrome (3) alagille syndrome (4) alagille syndrome Families
http://www.xs4all.nl/~ritanila/alagille.html
Lever Alagille Engels

95. Alagille's Syndrome
Images of alagille's syndrome.
http://tray.dermatology.uiowa.edu/Alagil01.htm
Dept. of Dermatology - University of Iowa College of Medicine
Alagille's Syndrome / Arteriohepatic Dysplasia - Right elbow - Xanthomata
For more information, see the American Liver Foundation and Online Mendelian Inheritance in Man (OMIM) Return to Image Index page. Return to Image Index page.
Return to Dermatology's Home page.
January, 1996

96. Alagille's Syndrome - 3
alagille s syndrome / Arteriohepatic Dysplasia Palmar Hand - Xanthomata.For more information, see the American Liver Foundation and Online Mendelian
http://tray.dermatology.uiowa.edu/Alagil03.htm
Dept. of Dermatology - University of Iowa College of Medicine
Alagille's Syndrome / Arteriohepatic Dysplasia - Palmar Hand - Xanthomata
For more information, see the American Liver Foundation and Online Mendelian Inheritance in Man (OMIM) Return to Image Index page. Return to Image Index page.
Return to Dermatology's Home page.
January, 1996

97. Alagille's Syndrome (www.whonamedit.com)
alagille s syndrome A congenital familial syndrome marked by clinical picturewith intrahepatic cholestasis, neonatal jaundice, and hepatomegaly.
http://www.whonamedit.com/synd.cfm/729.html

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Alagille's syndrome Also known as: Watson-Miller syndrome Synonyms: Arterio-hepatic dysplasia, cardiovertebral syndrome, cholestasis-peripheral pulmonary stenosis, cholestasis-pulmonary artery stenosis, cholestasis with peripheral pulmonary stenosis, hepatic ductular hypoplasia, hepatic ductal hypoplasia-multiple malformations syndrome, hepatofacial-neurocardiac-vertebral syndrome, cholestasis-pulmonary artery stenosis syndrome, hepatofacioneurocardiovertebral syndrome, paucity of interlobular ducts. Associated persons: Daniel Alagille V. Miller

98. Syndrome, Alagille Definition - Medical Dictionary Definitions Of Popular Medica
Online Medical Dictionary and glossary with medical definitions.
http://www.medterms.com/script/main/art.asp?articlekey=6704

99. Alagille, Syndrome : Sites Et Documents Francophones
et de la Recherche Médicale, U.347 Génétique et mécanismes des maladies
http://www.chu-rouen.fr/ssf/pathol/alagillesyndrome.html
Alagille, syndrome Définition [MeSH Scope Note ; traduction CISMeF] : Hypoplasie des canaux hépatiques, sténose congénitale de l’artère pulmonaire, anomalies faciales et autres malformations congénitales, notamment squelettiques. Se manifeste souvent comme un ictère pendant la période néonatale. C’est une maladie autosomique récessive qui en général se manifeste dans l’enfance. Le terme « artériohépatique » se réfère á l’artère pulmonaire et aux canaux biliaires intrahépatiques et non á l’artère hépatique.
Synonyme(s) CISMeF Alagille ; dysplasie artério-hépatique (AHD) ; paucité des voies biliaires, forme syndromique .
Synonyme(s) MeSH Dysplasie artériohépatique ; Paucité ductulaire syndromatique ; Syndrome d'Alagille
Arborescence(s) Alagille, syndrome Alagille syndrome
maladie de l'appareil digestif
maladies cardiovasculaires maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter
Qualificatifs :

100. Penn State Faculty Research Expertise Database (FRED)
alagilleWatson syndrome, Cholestasis with Peripheral Pulmonary Stenosis.Hepatic Ductular Hypoplasia, Syndromatic, alagille Watson syndrome
http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D016738

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