61. Re: What Is The Evolutionary Background Of Alagille Syndrome? Lets see what is known about alagille syndrome, and then see if we can make sense alagille syndrome is an inherited genetic disorder characterized by a http://www.madsci.org/posts/archives/feb2001/981661836.Ge.r.html

MadSci Network : Genetics Re: What is the evolutionary background of Alagille Syndrome? Date: Thu Feb 8 03:39:06 2001 Posted By: Steve Mack, Post-doc/Fellow, Molecular and Cell Biology, Children's Hospital Oakland Research Institute Area of science: Genetics ID: 981481573.Ge Message: Good question Alaina! Lets see what is known about Alagille syndrome, and then see if we can make sense of its genetics from an evolutionary perspective. Alagille Syndrome These observations already tell us a few things about the genetics of this disease. First of all, it has what is called incomplete penetrance, so that even people who have the identical genetic makeup (as far as the root cause of the disease is concerned), can have different forms of the disease. This will be important for understanding how the disease could have spread through the population. In addition, the fact that it is a dominant trait means that you only have to inherit one copy of the responsible gene, instead of two, in order to contract Alagille Syndrome. The actual genetic defect that is responsible for this syndrome is found on Chromosome 20, and is believed to be a

62. Alagille Syndrome Alagille s Syndrome / Arteriohepatic Dysplasia Xanthomata Moyamoya Syndromein Children With alagille syndrome Additional Evidence of a Vasculopathy http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=15

63. Volunteer With Alagille Syndrome Alliance - Portland, OR alagille syndrome Alliance is located in Portland, Oregon. http://www.volunteermatch.org/orgs/org9029.html

Skip over navigation VolunteerMatch is currently experiencing network delays More Hurricane Relief How you can help now [ Go Home Search Volunteers ... Virtual Refine Your Search Organization Name ZIP Code Distance 5 miles 10 miles 20 miles 60 miles City County Metro Area State Interest Area Everything Animals Board Development Community Crisis Support Disabled Employment Environment Hunger Hurricane Relief International Politics Religion Seniors Women City State AL AK AS AZ AR CA CO CT DE DC FM FL GA GU HI ID IL IN IA KS KY LA ME MH MD MA MI MN MS MO MT NE NV NH NJ NM NY NC ND MP OH OK OR PW PA PR RI SC SD TN TX UT VT VI VA WA WV WI WY Preferred Partners Everything AARP America's Second Harvest American Humane Assoc American Red Cross ASDVS Camp Fire USA Hands On Network Hostelling International Keep America Beautiful National CASA USA Freedom Corps Everything AmeriCorps Senior Corps Peace Corps Citizen Corps Advanced Search setSearchVis('optional'); FEEDBACK Comments or praise about this volunteer organization? Send VolunteerMatch your feedback. We want to hear from you. Share Your Feedback Organization Detail Alagille Syndrome Alliance Back Mission Statement To provide a support network for people with Alagille Syndrome, enable families to meet other families, support research efforts on AGS, and to increase awareness and understanding of AGS and its symptoms to the general population.

64. Clinical Trial: Positional Cloning Of The Gene(s) Responsible For Alagille Syndr Characterization of genes involved in alagille syndrome could provide important Syndromic paucity of interlobular bile ducts (alagille syndrome or http://www.clinicaltrials.gov/ct/show/NCT00001642

Home Search Browse Resources ... About Positional Cloning of the Gene(s) Responsible for Alagille Syndrome This study has been completed. Sponsored by: National Human Genome Research Institute (NHGRI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes within this region which are, by definition, candidate genes for the disease. In a collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase chromosomes and genomic DNA from affected individuals will be studied for subchromosomal deletions and for mutations in the candidate genes. Characterization of genes involved in Alagille syndrome could provide important insight into the pathophysiology of the disease, the development of normal liver and treatment of this disease. Recently, we and others found that mutations in Jagged1, a Notch1 receptor are responsible for Alagille Syndrome. Condition Alagille Syndrome MedlinePlus related topics: Liver Diseases Genetics Home Reference related topics: Alagille syndrome Study Type: Observational Study Design: Natural History Further Study Details: Expected Total Enrollment: 225 Study start: May 23, 1997; Study completion: March 24, 2000

65. Alagille Syndrome With Prominent Skin Manifestations Sengupta Sujata, Das Jayant alagille syndrome, a rare genetic disorder with autosomal dominant transmission, The child was diagnosed as a case of alagille syndrome. http://www.ijdvl.com/article.asp?issn=0378-6323;year=2005;volume=71;issue=2;spag

66. Short Description Of Cell Lines. Pathology: Alagille Syndrome #118450 Version 4.200205. Short description of cell lines. Pathology alagille syndrome 118450OMIM record. By selecting the cell line name, you will receive the http://www.biotech.ist.unige.it/cldb/pat410.html

Version Short description of cell lines. Pathology: Alagille syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian lymphoblast GEIMM By Beatrice...

67. PharmGKB: Alagille Syndrome Alternate Names, Arteriohepatic Dysplasia; Arteriohepatic Dysplasias; Dysplasia,Arteriohepatic; Dysplasias, Arteriohepatic; Syndrome, Alagille http://www.pharmgkb.org/do/serve?objId=PA446376&objCls=Disease

68. Dr. Koop - Alagille Syndrome- Health Encyclopedia And Reference alagille syndrome Symptoms, Treatments and Medications. http://www.drkoop.com/encyclopedia/93/563.html

Home Kids Sep 08, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Health Encyclopedia - Diseases and Conditions A B C D ... Y Alagille Syndrome What is the Definition of Alagille Syndrome? Description of Alagille Syndrome Causes of Alagille Syndrome Symptoms of Alagille Syndrome ... What Questions to ask Your Doctor About Alagille Syndrome? What is the Definition of Alagille Syndrome? Alagille syndrome is a genetic disorder that mimics other forms of prolonged liver disease in infants and young children. However, a group of unusual features in other organ systems distinguishes Alagille syndrome from other liver and bile duct diseases in infants. It is also known as arteriohepatic dysplasia . The gene for this disorder has been discovered on chromosome 20 in band 20p12. top ^ Description of Alagille Syndrome Children with Alagille syndrome usually have a liver disease characterized by a progressive loss of the bile ducts within the liver over the first year of life and narrowing of the bile ducts outside the liver. This leads to a buildup of bile in the liver, causing damage to liver cells. Scarring may occur and lead to cirrhosis in about 30 to 50 percent of affected children. Alagille syndrome was first described in 1969 by D. Alagille, in the French medical literature. top ^ Causes of Alagille Syndrome Alagille syndrome is generally inherited from one parent and there is a 50 percent chance that each child will develop the syndrome. Each affected adult or child may have all or only a few of the features of the syndrome.

69. Www.chop.edu/clinical/ralres.htm Digestive System DiseasesThe alagille syndrome Alliance (US). alagille syndrome - LiverKids (AU).Pictures of alagille syndrome, Skin I and alagille syndrome, Skin II - U of Iowa http://www.chop.edu/clinical/ralres.htm

70. Alagille Syndrome - Symptoms, Treatment And Prevention Symptoms, Treatment and Prevention of alagille syndrome. http://www.healthscout.com/ency/1/563/main.html

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71. Www.mc.vanderbilt.edu/peds/pidl/gi/alagille.htm alagille syndrome (AGS) balanced translocation t(4;14)(q21;q21. alagille syndrome has been referredto as a continuous gene syndrome provisionally mapped to 20p12.1p11.23 http://www.mc.vanderbilt.edu/peds/pidl/gi/alagille.htm

The Vanderbilt Pediatric Interactive Digital Library is no longer online as of April 14, 2003. Alternative Resources: Vanderbilt Children's Hospital Vanderbilt Children's Hospital - Health Topics Vanderbilt Children's Hospital Digital Library

72. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Alagille+S alagille syndromealagille syndrome Alliance Worldwide support network for people who care Children s Liver Alliance - alagille syndrome - Contains intimate stories of http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Alagille Syndrome

73. Alagille alagille syndrome. alagille syndrome Alliance,. 10630 SW Garden Park Pl. Tigard,OR 97223. (503) 6396217. © 2003 ABC F Press MoreInfo@ChildHealthInfo.com http://www.childhealthinfo.com/alagille.htm

ALAGILLE SYNDROME Alagille Syndrome Alliance, 10630 SW Garden Park Pl. Tigard, OR 97223 MoreInfo@ChildHealthInfo.com The Child Health Information Center Where to Start Child Care for the '90' - Owner's Manual ... Contact Us

74. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ alagille syndrome Alliance Worldwide support network for people who care about alagille syndrome - Discussion of the genetics, clinical presentation, http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Alagille Syndrome Subtopics See Also: Health: Conditions and Diseases: Chronic Illness Health: Conditions and Diseases: Digestive Disorders: Liver Health: Conditions and Diseases: Rare Disorders Search Google: Alagille Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF).

75. Rikshospitalet: Senter For Sjeldne Sykdommer Og Syndromer alagille syndrome may cause symptoms from various organs of the body. alagille syndrome develops differently from one person to another. http://ssss.oslonett.no/side.php?aid=227&k=english

76. Alagille Syndrome -- Krantz Et Al. 34 (2): 152 -- Journal Of Medical Genetics alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated A mouse model of alagille syndrome Notch2 as a genetic modifier of Jag1 http://jmg.bmjjournals.com/cgi/content/abstract/34/2/152

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted ... Citation Map Services Email this link 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 Krantz, I. D. Articles by Spinner, N. B. Journal of Medical Genetics, 1997, Vol 34, 152-157 ARTICLES Alagille syndrome ID Krantz, DA Piccoli and NB Spinner Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA. Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille- Watson

77. Alagille Syndrome Definition alagille syndrome. Definition. Search for. Glossary word, Glossary - def,Textbooks, Protocols, Images, Tools, Forum, PubMed, Links, Press Releases http://www.biochem.northwestern.edu/holmgren/Glossary/Definitions/Def-A/Alagille

Genes / Proteins Definitions Models Developmental Models ... Z Alagille Syndrome Definition: Search for: Glossary - word Glossary - def Textbooks Protocols Images Tools Forum PubMed Links Press Releases Biology Glossary search by EverythingBio.com A rare inherited liver disorder seen in infants and young children. The disease is characterized by a buildup of bile in the liver due to a deficiency or absence of normal bile ducts inside the liver and a narrowing of bile ducts outside the liver. Symptoms of the disorder can include jaundice, stunted growth, fatty deposits in the skin, facial deformities, and abnormalities in the heart, eyes, vertebrae, and kidneys. A B C D ... Home Website created and maintained by: Mark Lefers and the Holmgren Lab last updated: July 26, 2004

78. Alagille Syndrome alagille syndrome is a rare inherited syndrome characterized by a reduction METHODS The records of 174 patients with alagille syndrome were reviewed, http://www.thedoctorsdoctor.com/diseases/alagille_syndrome.htm

Background Alagille syndrome is a rare inherited syndrome characterized by a reduction in intrahepatic bile ducts associated with multiple abnormalities in many other organ systems such as the cardiovascular system, skeleton, and kidneys. Recently, the syndrome has been associated with mutations in the JAGGED gene, mapped to chromosome 20. OUTLINE Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/ ... Internet Links EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Alagille-Watson syndrome Arteriohepatic dysplasia Syndromic bile duct paucity INCIDENCE/ PREVALENCE 1/100,000 live births AGE SEX GEOGRAPHY EPIDEMIOLOGIC ASSOCIATIONS DISEASE ASSOCIATIONS CHARACTERIZATION COAGULOPATHY Bleeding tendency in children with Alagille syndrome. Lykavieris P, Crosnier C, Trichet C, Meunier-Rotival M, Hadchouel M. Service d'Hepatologie pediatrique, Hopital de Bicetre, Le Kremlin Bicetre Cedex, France. Pediatrics. 2003 Jan;111(1):167-70. Abstract quote OBJECTIVE: Spontaneous intracranial bleeding is now a widely recognized complication and cause of mortality in patients with Alagille syndrome. The pathogenesis of intracranial bleeding in these patients remains unclear. The aim of the study was to look for other sites of bleeding in these patients that could suggest a factor of multiorgan morbidity. METHODS: The records of 174 patients with Alagille syndrome were reviewed, and 38 (22%) patients without liver failure who experienced hemorrhage that led to a drop in hemoglobin level of at least 3 g/dL or to blood transfusion were identified.

79. Pediatrics Bleeding Tendency In Children With Alagille Syndrome Full text of the article, Bleeding tendency in children with alagille syndrome from Pediatrics, a publication in the field of Health Fitness, http://www.findarticles.com/p/articles/mi_m0950/is_1_111/ai_96952411

80. Alagille Syndrome - General Practice Notebook alagille syndrome is defined clinically as the combination of. biliary hypoplasia;cardiovascular abnormalities; vertebral abnormalities http://www.gpnotebook.co.uk/cache/-650837994.htm

Alagille syndrome Alagille syndrome is defined clinically as the combination of: biliary hypoplasia cardiovascular abnormalities vertebral abnormalities characteristic facies ocular abnormalities The degree of biliary hypoplasia is variable. Some patients have severe cholestasis, progress to cirrhosis and require liver transplantation. Click here for more information...

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