Geometry.Net - Health_Conditions: Alagille Syndrome


Home - Health_Conditions - Alagille Syndrome

e99.com Bookstore

Images

Newsgroups

41-60 of 96 Back | 1 | 2 | 3 | 4 | 5 | Next 20

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

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

Alagille Syndrome
Liver. alagille syndrome. alagille syndrome is an inherited liver disease seenin infants and young children. alagille syndrome What is alagille syndrome?
http://jhhs.client.web-health.com/web-health/topics/GeneralHealth/generalhealths
Digestive System Diseases
List of resources organized by diseases provided for physicians and patients. List is developed by Category Health Medicine Medical Specialties Gastroenterology Fatty Liver, Cirrhosis, and Related Disorders Merck Manual. AlagilleSyndrome The alagille syndrome Alliance - (US); About Artheriohepatic
http://www.mic.ki.se/Diseases/c6.html
Alagille Syndrome - FISH Analysis
alagille syndrome, FISH Analysis.The Kleberg Cytogenetics Laboratory offers afluorescence in situ hybridization (FISH)based assay for identifying the
http://www.bcmgeneticlabs.org/tests/cyto/alagille.html

Extractions: FISH is the application of fluorescently labeled DNA molecules to metaphase chromosomes and interphase nuclei for the detection of chromosome abnormalities and alterations. It is a rapid, reliable and direct approach for identifying patients with microdeletions or microduplications. A small percentage of individuals with Alagille syndrome have microdeletions of 20p that can be detected by FISH(~ 6%).
Alagille Syndrome (AGS)
Syndrome, alagille syndrome (AGS). alagille syndrome has been referred toas a continuous gene syndrome provisionally mapped to 20p12.1p11.23.
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome017.html

Extractions: Syndrome Alagille syndrome (AGS) Synonyms Alagille-Watson syndrome (AWS) Watson-Miller syndrome arteriohepatic dysplasia (AHD) cardiovertebral syndrome cholestasis-peripheral pulmonary stenosis hepatic ductular hypoplasia hepatic ductular hypoplasia-multiple malformations syndrome hepatofacioneurocardiovertebral syndrome paucity of interlobular bile ducts (PILBD) Summary Intrahepatic cholestasis caused by paucity of interlobular bile ducts associated with cardiovascular and other anomalies. Major abnormalities include characteristic facies (prominent forehead, deeply set eyes, hypertelorism, straight nose, and pointed chin) sometimes referred to as cholestasis facies, hoarse voice, and a wide variety of other disorders. Moderate mental retardation occurs in about 15 %. Cerebrovascular complications may include the moyamoya syndrome (progressive obliteration of the intracranial carotid arteries and formation of an extensive vascular network of dilated small branches. The disorder was first reported in Japanese children, and the angiographic appearance of thus formed fine network was described by the Japanese expression "moyamoya," meaning "something hazy, like a puff of smoke drifting in the air," as seen on the radiograph). Major Features Head and neck: Prominent forehead, dysmorphic flat midface, prognathism, and pointed chin.
Alagille Syndrome
alagille syndrome. alagille syndrome Alliance Worldwide support network forpeople who care about people with alagille syndrome hosted by talkcity.
http://www.health-nexus.org/alagille_syndrome.htm

Extractions: Health-Nexus.Com Health-Nexus.Net The #1 Health information site Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Alagille Syndrome WebMD/Lycos - Article - Alagille Syndrome With Lycos, WebMD offers a comprehensive online health resource. Whether you want to get information about a medical condition, learn more about leading a healthier lifestyle, or talk to others...
Nature Publishing Group
Article. Parental mosaicism of JAG1 mutations in families with alagille syndrome. Alagillesyndrome; JAG1 mutation; mosaicism; mild phenotype; chromosome 20.
http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v9/n3/abs/5200613a
Nature Publishing Group
Table of contents Previous Abstract Next Article PDF. Erratum. Parentalmosaicism of JAG1 mutations in families with alagille syndrome.
http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v9/n7/abs/5200671a
Centro Medico Teknon : Library
Translate this page alagille syndrome Definition alagille syndrome is a disorder that mimicsother forms of prolonged liver disease in infants and young children.
http://www.teknon.es/Library/Library.asp?563
Alagille
Start Omhoog. Lever Alagille Engels. alagille syndrome (2); AlagilleSyndrome (3); alagille syndrome (4); alagille syndrome Families;
http://www.xs4all.nl/~ritanila/alagille.html
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
Alagille Syndrome
alagille syndrome. 2000/6/21. ?. . alagille syndrome.Basic data. Chief complaint. Present illness. Present illness.
http://www.vghtc.gov.tw:8082/ped/teaching/inout/GI/alagille syndrome/
Alagille Syndrome(arteriohepatic Dysplasia)
alagille syndrome(arteriohepatic dysplasia). the the most common syndrome incorporatingintrahepatic bile duct paucity. progressive destruction of bile ducts.
http://www.vghtc.gov.tw:8082/ped/teaching/inout/alagille syndrome/tsld002.htm
Service Page - Pathologie Information
newsgroup. question to Orphanet. DISEASE Bile ducts paucity, syndromicform, Synonym(s) alagille syndrome Arteriohepatic dysplasia, CIM Q44.7,
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=52
QIMR Website - Iron Metabolism Laboratory
In keeping with our gastroenterological theme, investigations are also beingcarried out on the developmental liver disorder alagille syndrome.
http://www.qimr.edu.au/research/labs/grega/

Extractions: gregA@qimr.edu.au gene and investigating the functional consequences of these mutations. Hephaestin and intestinal iron absorption We have recently mapped and cloned a novel membrane-bound ceruloplasmin homologue, called hephaestin, which plays a critical role in intestinal iron absorption. Hephaestin is defective in the sex-linked anaemic ( sla ) mouse, and it was analysis of this mouse strain that led to the identification of the gene. This protein is strongly expressed in the small intestine and is required for the movement of iron out of these cells and into the body, the so-called transfer step of iron absorption. We are currently investigating the synthesis, cellular biology and regulation of hephaestin in order to better understand its role in cellular iron efflux. Furthermore, we predict that hephaestin interacts with an iron transporter in order to move iron across membranes. A strong candidate for this role is the basolateral iron transport protein IREG1, and we are actively assessing the relationship between these two proteins. This work is being carried out in collaboration with Dr Christopher Vulpe of the University of California, Berkeley and Dr Andrew McKie at the Rayne Institute in London. Regulation of iron absorption Iron metabolism in neurological disorders Iron accumulation in the brain is found in a number of neurological disorders and is likely to play an important role in the pathogenesis of these diseases. This field represents a new interest for our group and our current studies are centred on the progressive degenerative neurological disease Friedreich ataxia (FRDA). A role for the protein affected in FRDA, frataxin, in mitochondrial iron accumulation has been proposed, and we are investigating this relationship. To strengthen our base in this research field, we have recently commenced collaborative studies with Dr Stephen Robinson at Monash University in Melbourne to characterise the mechanisms of excess iron deposition in Alzheimer's disease.
Pediatric Cardiology
alagille syndrome. This is also known as arteriohepatic dysplasia.It is a disease mainly of the liver which results in a decreased
http://www.ucch.org/sections/cardio/new/alagille.html

Extractions: [Return to main] Alagille Syndrome This is also known as arteriohepatic dysplasia. It is a disease mainly of the liver which results in a decreased number of tubes (ducts) which usually allow the liver to get rid of a substance known as bile. There is also progressive destruction of the bile ducts. The end result is that bile accumulates within the liver and yellowness of the skin (jaundice) results since the liver cannot get rid of a substance called bilirubin which is one of the components in bile. There are a number of features common to people with Allagile syndrome. They may have a broad forehead with deep set and widely spaced eyes. They may have an underdeveloped mandible, eye abnormalities, abnormalities of the spine, kidney abnormalities, and cardiac abnormalities. The cardiac abnormalities are usually narrowing of the pulmonary arteries (peripheral pulmonary stenosis) which may require a cardiac intervention (such as stenting and dilation). Occasionally, another defect known as
Pediatric Cardiology
Index of Syndromes alagille syndrome DiGeorge syndrome Downs syndrome Marfan syndromeNoonans syndrome Tuberous sclerosis Turners syndrome Williams syndrome
http://www.ucch.org/sections/cardio/new/congenital.html

Extractions: [Return to main] What causes congenital cardiovascular defects? Congenital cardiovascular defects are present in about one percent of live births. They're among the most common congenital malformations in newborns. In most cases scientists don't know why they occur. Sometimes a viral infection causes serious problems. German measles (also called rubella) is an example. If a woman contracts German measles while pregnant, it can interfere with how her baby's heart develops or produce other malformations. Other viral diseases also may cause congenital defects. Heredity sometimes plays a role in congenital cardiovascular disease. More than one child in a family may have a congenital cardiovascular defect, but this rarely occurs. Certain conditions affecting multiple organs, such as Down's syndrome , can involve the heart, too. Some prescription drugs and over-the-counter medicines, as well as alcohol and "street" drugs, may increase the risk of having a baby with a heart defect. Other factors that affect the heart's development are under study. The fact is, we don't know what causes most congenital cardiovascular defects.
Health Library - Alagille Syndrome
alagille syndrome. Self Help Clearinghouse. alagille syndrome Alliance.National network. Founded 1993.Support network
http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29ala
Alagille Syndrome - General Practice Notebook
medical information from General Practice Notebook. alagille syndrome. Alagillesyndrome is defined clinically as the combination of biliary hypoplasia;
http://www.gpnotebook.co.uk/cache/-650837994.htm
Health Library - Alagille Syndrome
alagille syndrome. Self Help Clearinghouse. alagille syndrome Alliance.National network. Founded 1993.Support network
http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29a
ClinicalTrials.gov - Linking Patients To Medical Research: Study Details
Positional Cloning of the Gene(s) Responsible for alagille syndrome. Thisstudy is completed. Sponsored Syndrome. Condition. alagille syndrome.
http://www.clinicaltrials.gov/ct/gui/show/NCT00001642?order=28

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

41-60 of 96 Back | 1 | 2 | 3 | 4 | 5 | Next 20