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Alagille Syndrome:     more detail

Alagille syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Sonja Eubanks, 2005 Alagille Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19 Alagille syndrome with prominent skin manifestations.(Case Report) : An article from: Indian Journal of Dermatology, Venereology and Leprology by Sujata Sengupta, Jayanta Das, et all 2005-03-01

lists with details

1. AGS 01 Home
   Worldwide support network for people who care about people with alagille syndrome hosted by talkcity.Category Health Conditions and Diseases alagille syndromeThe official alagille syndrome Alliance Worldwide Web Site. This pageincludes extensive information about alagille syndrome and  
   http://www.alagille.org/

2. Medical Information Including Diagnosis, Testing And Genetics
   alagille syndrome in Brief. Testing for alagille syndrome. Diagnosis of AlagilleSyndrome. Treatment for alagille syndrome. Life Expectancy with alagille syndrome.  
   http://www.alagille.org/medical_info_1999.html

3. Alagille's Syndrome
   Images of Alagille's Syndrome.Category Health Conditions and Diseases alagille syndromeDept. of Dermatology University of Iowa College of Medicine. Alagille'sSyndrome / Arteriohepatic Dysplasia - Right elbow - Xanthomata.  
   http://tray.dermatology.uiowa.edu/Alagil01.htm

4. Pediatric Database
   A definition of alagille syndrome, the epidemiology, pathogenesis, clinical features, investigations and management.  
   http://www.icondata.com/health/pedbase/files/ALAGILLE.HTM

5. Alagille Syndrome
   A description, the diagnosis, symptoms, treatment and complications of alagille syndrome.  
   http://www.liverkids.org.au/falagille.htm
   
   Extractions: This site is hosted by Netfirms Web Hosting WHAT IS ALAGILLE'S SYNDROME? Alagille's syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children. Alagille's Syndrome is generally inherited only from one parent. Each affected adult or child may have all or only a few of the features of the syndrome. Alagille's occurs approximately once in every 100,000 live births with equal incidence between girls and boys. For a couple who already have an affected child, the risk of a further child being affected are 1 in 30 if neither parent has any signs, and 1 in 10 if one of the parents has signs of the syndrome. DIAGNOSIS OF ALAGILLE'S SYNDROME This can be difficult in the young baby when the condition may appear very similar to other forms of liver disease, such as biliary atresia. However there are other features associated with Alagille's Syndrome which help establish the diagnosis. These include abnormalities in the cardiovascular system, the spinal column, the eye and the kidneys. Narrowing of the blood vessel connecting the heart to the lungs (pulmonary artery) leads to extra heart sounds but rarely problems in heart function. The shape of the bones of the spinal column may look like a butterfly's wings on x-ray but almost never cause problems with function of the nerves in the spinal cord.

6. Alagille, Syndrome : Sites Et Documents Francophones
   syndrome alagille . Arborescence(s) du thesaurus MeSH contenant le motclé Alagille, syndrome alagille syndrome  
   http://www.chu-rouen.fr/ssf/pathol/alagillesyndrome.html

7. Alagille Syndrome
   alagille syndrome. alagille syndrome Alliance. 10630 SW Garden Park Place  
   http://www.kumc.edu/gec/support/alagille.html

8. NORD - Alagille Syndrome
   The synonyms, a general discussion and further resources.  
   http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

9. Alagille Syndrome Related Search
   Search for books about alagille syndrome. alagille syndrome. Begin your search for. alagille syndrome  
   http://www.book-summary.com/alagille-syndrome.html

10. Gastroenterology - Alagille Syndrome
    ARTERIOHEPATIC DYSPLASIA OR alagille syndrome. Alagille first described a syndromeconsisting of a paucity of interlobular bile ducts with chronic cholestasis.  
    http://www.mc.vanderbilt.edu/peds/pidl/gi/alagille.htm
    
    Extractions: PIDL Home/ Contents Development Nutrition Acute Illness ... Psychosocial Gastroenterology ARTERIOHEPATIC DYSPLASIA OR ALAGILLE SYNDROME Alagille first described a syndrome consisting of a paucity of interlobular bile ducts with chronic cholestasis. Patients with this syndrome typically have the following major features: peculiar facies, chronic cholestasis, butterfly- like vertebral arch defects, and peripheral pulmonary artery hypoplasia or stenosis, either isolated or associated with complex cardiovascular abnormalities. Other less frequent features include growth retardation, mental retardation, renal disturbances, other vascular malformations, high- pitched voice, and delayed puberty with hypogonadism. Patients typically present with conjugated hyperbilirubinemia from chronic cholestasis within the first 3 months of life. Hepatomegaly and splenomegaly are almost invariably present. A remarkable feature is the extreme degree of pruritus. The splenomegaly may actually precede the development of portal hypertension. Xanthomas are commonly seen on the extensor surfaces of the fingers, palmar creases, nape of the neck, anal folds, popliteal fossa, and inguinal area. There is marked elevation of cholesterol, phospholipid, and triglyceride levels. Typically liver enzymes are found to be normal.

11. Alagille Syndrome - C.L.A.S.S.
    alagille syndrome. What is alagille syndrome? alagille syndrome is amultisystem hereditary disorder. It often presents with clinical  
    http://www.classkids.org/library/alagille.htm
    
    Extractions: 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. 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.

12. Liver Links
    alagille syndrome. alagille syndrome alagille syndrome Alliance alagille syndromeAmerican Liver Foundation alagille syndrome Vanderbilt Med Ctr. Biliary Atresia.  
    http://www.classkids.org/library/liverlinks.htm

13. GeneReviews: Alagille Syndrome
    Your browser does not support HTML frames so you must view alagille syndromein a slightly less readable form. Please follow this link to do so.  
    http://www.geneclinics.org/profiles/alagille/

14. Alagille Syndrome / The Family Village
    Library A B. alagille syndrome.  
    http://www.familyvillage.wisc.edu/lib_alag.htm
    
    Extractions: See also: Arteriohepatic Dysplasia, Watson-Alagille Syndrome, Syndromic Hepatic Ductular Hypoplasia, Syndromic Intrahepatic Biliary Hypoplasia, Cholestasis with Peripheral Pulmonary Stenosis, Syndromic Bile Duct Paucity, Intrahepatic Biliary Artresia or Dysgenesis. ASA's mission is to provide information about Alagille syndrome, networking services, and a forum for exchange of experiences for families with the syndrome. They also disseminate information to all those interested in this rare liver disorder, and will refer families to others in the same geographical area. The Alliance publishes a quarterly newsletter, LiverLinks , and has a brochure and a fact sheet available that explain the syndrome and treatment that is available. ASA offers a new parent packet that includes, the newsletter, fact sheet, brochure, and an information form for referrals. ASA collects information on physicians and research being done and makes this information available to its members on a limited basis. They are in the process of developing a bibliography of articles and they have a scientific advisory board.

15. EMedicine - Alagille Syndrome : Article By Ann Scheimann, MD
    alagille syndrome alagille syndrome (AS) is an autosomal dominant disorder (OMIM118450) associated with abnormalities of the liver, heart, skeleton, eye  
    http://www.emedicine.com/ped/topic60.htm
    
    Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Gastroenterology Last Updated: February 25, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: AS, Alagille's syndrome, Alagille-Watson syndrome, arteriohepatic dysplasia, syndromic bile duct paucity AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Ann Scheimann, MD , Assistant Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Baylor College of Medicine and Johns Hopkins Medical Institution Ann Scheimann, MD, is a member of the following medical societies: North American Society for Pediatric Gastroenterology and Nutrition Editor(s): Robert Baldassano, MD , Director, Center for Pediatric Inflammatory Bowel Disease, Assistant Professor, Department of Pediatrics, Division of Gastroenterology and Nutrition, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD

16. HONselect - Alagille Syndrome
    English alagille syndrome, Arteriohepatic Dysplasia - Dysplasia, Arteriohepatic- Arteriohepatic Dysplasias - Dysplasias, Arteriohepatic - Syndrome, Alagille.  
    http://www.hon.ch/HONselect/RareDiseases/C06.130.450.250.125.html

17. Volume 16 Number 3 Page 243 Alagille Syndrome Is Caused By Mutations In Human Ja
    volume 16 number 3 page 243 alagille syndrome is caused by mutationsin human Jagged1, which encodes a ligand for Notch1. Linheng  
    http://www.stowers-institute.org/labs/LiLab/Jagged1-Alagille.htm
    
    Extractions: 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.

18. Alagille Syndrome Articles, Support Groups, And Resources
    alagille syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). alagille syndrome.  
    http://www.medhelp.org/HealthTopics/Alagille_Syndrome.html

19. Alagille Syndrome Alliance
    alagille syndrome Alliance. National network. Founded 1993. Support network for anyonewho cares about people with alagille syndrome, a genetic liver disorder.  
    http://www.medhelp.org/amshc/amshc238.htm
    
    Extractions: Title: Aicardi Syndrome Newsletter, Inc. Description: Support for families of daughters with Aicardi syndrome, a rare, seizure disorder that affects only females and is characterized by retinal lesions. Information and referrals, resources, research projects. Phone support network, research group, newsletters. Dues $25/year. Scope: International network Founded: Address: c/o Denise M. Parsons

20. SupportPath.com: Alagille Syndrome
    SupportPath.com, alagille syndrome. Also called Arteriohepatic dysplasia. NoneListed. Clinical Trials Research on alagille syndrome  
    http://www.supportpath.com/sl_a/alagille_syndrome.htm

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