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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

41. Alagille Syndrome Medical Definition Of Alagille Syndrome In The Medical Diction
Definition of alagille syndrome in the Medical Dictionary and Thesaurus. Alagille lookup. Provides search by definition of alagille syndrome.
http://medical-dictionary.thefreedictionary.com/Alagille Syndrome
Dictionaries: General Computing Medical Legal Encyclopedia
Alagille Syndrome
Word: Word Starts with Ends with Definition Pronunciation: (al-uh-GEEL sin-drohm) A condition of babies in their first year. The bile ducts in the liver disappear, and the bile ducts outside the liver get very narrow. May lead to a buildup of bile in the liver and damage to liver cells and other organs.
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42. Alagille Syndrome
alagille syndrome, Definition. alagille syndrome is a genetic disorder that mimics other forms of prolonged liver disease in infants and young children.
http://www.kwwl.com/global/story.asp?s=1230375

43. Alagille, Syndrome : Sites Et Documents Francophones
syndrome alagille . Arborescence(s) du thesaurus MeSH contenant le mot-clé Alagille, syndrome alagille syndrome
http://www.chu-rouen.fr/ssf/pathol/alagillesyndrome.html
Alagille, syndrome Menu général CISMeF Synonyme(s) CISMeF dysplasie artério-hépatique (AHD) ; paucité des voies biliaires, forme syndromique ; paucité ductulaire syndromatique .
Synonyme(s) MeSH Dysplasie artériohépatique ; syndrome alagille
Arborescence(s) Alagille, syndrome Alagille syndrome
appareil digestif, maladies
maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter
Qualificatifs :

44. Disease Directory : Genetic Disorders : Alagille Syndrome
Diseases Genetic Disorders alagille syndrome. alagille syndrome A rare inherited disorder in which there are fewer than normal bile ducts in the liver.
http://www.diseasedirectory.net/Genetic_Disorders/Alagille_Syndrome/default.aspx
Wednesday, June 02, 2004 Genetic Disorders
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Ablepharon-Macrostomia Syndrome
... Genetic Disorders : Alagille Syndrome
  • Alagille Syndrome - Discussion of the genetics, clinical presentation, natural history, and treatment of Alagille's syndrome. Alagille Syndrome - A rare inherited disorder in which there are fewer than normal bile ducts in the liver. Information by Cincinnati Children's Hospital Medical Center. Alagille Syndrome - [ Home ] [ Up ]. Click Here! Alagille Syndrome. Click Here! Music-e.net Just-recipes.net EnvyMag.com Scholarships-4u.com Shesearch Alagille syndrome - Alagille syndrome. Alagille Syndrome Alliance 10630 SW Garden Park Place Tigard, OR 97223 Phone: (503) 639-6217 Contact: Cindy L Hahn. Online Resouces: Alagille Syndrome - Founded 1993. Support network for anyone who cares about people with Alagille syndrome, a genetic liver disorder. Disseminates information. Alagille Syndrome. Alagille Syndrome - More Alagille Syndrome Categories: » Submit Your Site to the Alagille Syndrome category. Submit Your Site to the Alagille Syndrome category. Alagille syndrome - Selected medical images OMIM Alagille syndrome. Abdominal Coarctation and Alagille Syndrome; Alagille's Syndrome; Alagille's Syndrome;

45. Health Library -
alagille syndrome. Synonyms Disorder Subdivisions General Discussion Resources alagille syndrome is a genetic liver disorder usually present at birth.
http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

46. Alagille Syndrome
alagille syndrome,. Print this article, (Danielle Alagille, born 1925, French paediatrician), syndrome that typically presents with
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/ALAGILLE SYNDROM
Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Alagille syndrome, (Danielle Alagille, born 1925, French paediatrician), syndrome that typically presents with cholestatic jaundice in the neonatal period due to hypoplasia of the intralobular bile ducts. Associated abnormalities are facial dysmorphism, with a triangular face and low set ears, pulmonary stenosis and vertebral abnormalities and eye anomalies which include pigment clumping, chorioretinal atropy and posterior embryotoxon. Cytogenetic abnormalities are common. Butterfly vertebrae, or fused vertebrae are found on spinal radiographs. The liver echodensity may be increased at ultrasound examination but it is structurally normal. Radionuclide imaging shows slow bile excretion. The diagnosis is made by the demonstration of three of the five major manifestations: facial abnormalities, cholestasis, peripheral pulmonary artery stenosis or hypoplasia, posterior ocular embryotoxon and butterfly vertebrae. See arteriohepatic dysplasia
HC
The Encyclopaedia of Medical Imaging Volume VII
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47. Alagille Syndrome
Browse entry words starting with A, B, C, D, E, F, G, H, I, J, K, L, M, N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, alagille syndrome,. Print this article,
http://www.amershamhealth.com/medcyclopaedia/medical/Volume V 2/ALAGILLE SYNDROM
Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Alagille syndrome, (Daniel Alagille, born 1925, French paediatrician), an autosomal dominant disorder of variable severity ranging from causing jaundice and heart failure in neonates to being asymptomatic in some heterozygotes. The major cardiac feature is peripheral pulmonary artery stenosis . Hypertension may be the result of renal artery stenosis . Hepatic failure and cirrhosis frequently dominate the clinical presentation.
CBH
The Encyclopaedia of Medical Imaging Volume V:2
Contacts
GE Healthcare Making Waves

48. Fast Facts Alagille Syndrome
Fast Facts. alagille syndrome What is it? alagille syndrome is an deficiencies that often develop. How prevalent is alagille syndrome?
http://www.aasld.org/netFORUMAASLD/eweb/DynamicPage.aspx?webcode=FastFacts_Aga

49. Genetic Disorders, Alagille Syndrome
More alagille syndrome Categories » Submit Your Site to the alagille syndrome category. Submit Your Site to the alagille syndrome category.
http://www.iseekhealth.com/alagille_syndrome-1546.php
Home About Us Contact Submit Your Site Search :
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Health Conditions and Diseases Genetic Disorders ... Alagille Syndrome More Alagille Syndrome Categories:
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50. HealthCentral.com
alagille syndrome. alagille syndrome is a genetic disorder that mimics other forms of prolonged liver disease in infants and young children.
http://www.healthcentral.com/library/librarycontent.cfm?id=563

51. Alagille Syndrome
Selected medical images OMIM alagille syndrome. Abdominal Coarctation and alagille syndrome; Alagille s Syndrome; Alagille s Syndrome;
http://www.gfmer.ch/Genetic_diseases/Developmental_genetic_diseases/Alagille_syn
Selected medical images
OMIM

Alagille syndrome Sources
Print this page
Edited by Aldo Campana, August 13, 2003

52. American Liver Foundation - Medcohealth.com
What is alagille syndrome? alagille syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children.
http://www.medcohealth.com/medco/consumer/ehealth/healthorgs/hoarticle.jsp?topic

53. Alagille Syndrome
alagille syndrome, Definition. alagille syndrome is a genetic disorder that mimics other forms of prolonged liver disease in infants and young children.
http://www.klas-tv.com/global/story.asp?s=1230375

54. Alagille Syndrome Today
alagille syndrome today. The great phenotypic variability associated with alagille syndrome reflects this highly variable clinical expressivity.
http://collection.nlc-bnc.ca/100/201/300/cdn_medical_association/cim/vol-19/0325
Alagille syndrome today
Daniel Alagille, MD Clin Invest Med Paper reprints may be obtained from: Dr. Daniel Alagille, 75 Denfert-Rochereau, 75014 Paris, France; fax 33 1 43 54-2590
Contents
Abstract
A genetic syndrome causing paucity of interlobular bile ducts (Alagille syndrome) is characterized by five main characteristics: typical, peculiar facies; chronic cholestasis; posterior embryotoxon; butterfly-like vertebral-arch defects; and cardiovascular malformations. In the complete form of the syndrome, all five features are observed. Four or less of these characteristics are present in the incomplete or partial forms of this syndrome. Other, less frequent characteristics (growth retardation, mental retardation, renal and bone abnormalities as well as a high-pitched voice) have also been observed. An autosomal dominant mode of genetic transmission with variable penetrance seems likely. Therapy consists of nutritional supplementation of medium-chain triglycerides, essential fatty acids and fat-soluble vitamins. Liver transplantation has been used successfully to treat patients with liver failure, portal hypertension or severe pruritus and xanthomatosis.
Table of contents
Introduction
This syndrome, characterized by the association of five major groups of features, was gradually identified over 15 years. In 1965 Smith, Optiz and Inhorn1 described intrahepatic biliary dysgenesis associated with polycystic kidneys and cardiac anomalies. In 1969 I and my colleagues Habib and Thomasin[2] reported 25 cases of intrahepatic biliary hypoplasia and cardiac and vertebral malformations associated with a peculiar facies. The syndrome was better defined in 1975,[3] and the view that it is a specific entity was further strengthened by the description of posterior embryotoxon in 1979 by Riely and associates.[4]

55. Alagille Syndrome - FISH Analysis
alagille syndrome, FISH Analysis.The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)based assay for identifying the
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.

56. National Human Genome Research Institute - 1997 Release Alagille Syndrome
News release issued by the National Human Genome Research Institute in July 1997 to announce discovery of a gene for alagille syndrome, an inherited disorder
http://www.genome.gov/10000895
1997 Release Alagille Syndrome
Gene Finding May Lead to Better Understanding of Birth Defects
Human Disorder Found to be Due to Alteration in a Developmental Pathway Intensly Studied in Simpler Organisms July 1997 BETHESDA, Md .- Scientists at the National Human Genome Research Institute (NHGRI), reported recently that a newly discovered gene that causes a rare childhood disease marked by a wide range of birth defects may be an important key to other human developmental disorders. A mutation in the gene-known as JAG1-causes Alagille syndrome. NHGRI Director Dr. Francis Collins, visiting scientist Dr. Settara Chandrasekharappa, postdoctoral fellow Dr. Takaya Oda, and their colleagues report their finding in a recent issue of the journal Nature Genetics . The disease, also known as AGS, is characterized by abnormalities of the liver, heart, eye and vertebrae, as well as certain facial features. Working with researchers at Nagoya City University in Japan, the Children's Hospital of Philadelphia, and Research Genetics Inc. of Huntsville, Alabama, Collins and Chandrasekharappa observed that JAG1, located on Chromosome 20, is mutated in individuals with AGS. JAG1 produces a molecule that resides on the cell surface interacts with the products of the so-called NOTCH family of genes, which also reside on cell surfaces. Based on extensive work done on similar genes in fruitflies and roundworms, scientists believe that signalling between these proteins is critical for the proper development of embryos. Individuals with AGS are born with one copy of JAG1 not functioning. Even though the remaining copy is normal, without the right dosage of JAG1 in their genetic makeup, AGS is the result.

57. National Human Genome Research Institute - Talking Glossary Of Genetic Terms
Dr. Settara Chandrasekharappa, of the National Human Genome Research Institute s Genetics and Molecular Biology Branch, defines alagille syndrome.
http://www.genome.gov/glossary.cfm?key=alagille syndrome

58. Genetic Disorders: Alagille Syndrome
Genetic Disorders alagille syndrome. alagille syndrome. Information by Cincinnati Children s Hospital Medical Cent alagille syndrome.
http://www.puredirectory.com/Health/Conditions-and-Diseases/Genetic-Disorders/Al
Genetic Disorders: Alagille Syndrome
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Standard Listings
Alagille Syndrome
A rare inherited disorder in which there are fewer than normal bile ducts in the liver. Information by Cincinnati Children's Hospital Medical Cent...
Alagille Syndrome
Discussion of the genetics, clinical presentation, natural history, and treatment of Alagille's syndrome.
Alagille Syndrome Alliance
Worldwide support network for people who care about people with alagille syndrome.
Children's Liver Alliance
A description, the diagnosis, symptoms, treatment and complications of Alagille syndrome.
Dept. of Dermatology - University of Iowa College of Medicine
Images of Alagille's Syndrome.
NORD: Alagille Syndrome
The synonyms, a general discussion and further resources.

59. University Of Miami School Of Medicine - Glossary - Alagille Syndrome
alagille syndrome. Children with alagille syndrome usually present with jaundice (yellowing of the skin and whites of the eyes) in the newborn period.
http://www.med.miami.edu/patients/glossary/art.asp?articlekey=6752

60. Conditions And Diseases - Alagille Syndrome Top Links
alagille syndrome Web Site Links. Dept. of Dermatology University of Iowa College of Medicine - Images of Alagille s Syndrome.
http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso
Sub Categories
Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health
Alagille Syndrome Web Site Links Pediatric Database A definition of Alagille syndrome, the epidemiology, pathogenesis, clinical features, investigations and management.
Dept. of Dermatology - University of Iowa College of Medicine
Images of Alagille's Syndrome.
Children's Liver Alliance
A description, the diagnosis, symptoms, treatment and complications of Alagille syndrome.
Alagille Syndrome Alliance
Worldwide support network for people who care about people with alagille syndrome hosted by talkcity.
NORD - Alagille Syndrome
The synonyms, a general discussion and further resources.
Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research.
AHRQ: Clinical Information
Clinical information on evidence-based practice, clinical guidelines, medical effectiveness, pharmaceutical therapy, new technology, screening and preventive services, outcomes research, and the National Guideline Clearinghouse.
The UK Health Technology Assessment Programme
Site contains details of program's many projects and publications; an NHS national research and development initiative.

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