61. Health Library - Alagille Syndrome Saint Luke's Health System eLibrary. alagille syndrome. Self Help Clearinghouse.alagille syndrome Alliance. National network. http://hvelink.saint-lukes.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29

62. Health Library - Alagille Syndrome alagille syndrome. Synonyms Disorder Subdivisions General Discussion Resources AlagilleSyndrome is a genetic liver disorder usually present at birth. http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

63. Alagille Syndrome one click For Medical Professionals only. alagille syndrome,, Printthis article, (Daniel Alagille, born 1925, French paediatrician http://www.amershamhealth.com/medcyclopaedia/Volume V 2/ALAGILLE SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required 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 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe?

64. Alagille Syndrome alagille syndrome,, Print this article, (Danielle Alagille, born 1925,French paediatrician), syndrome that typically presents with http://www.amershamhealth.com/medcyclopaedia/Volume VII/ALAGILLE SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required 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

65. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Sites. alagille syndrome Alliance Worldwide support network for peoplewho care about people with alagille syndrome hosted by talkcity. http://www.1uphealth.com/links/genetic-disorders-alagille-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : Alagille Syndrome Description See Related Categories Health: Conditions and Diseases: Digestive Disorders: Liver Health: Conditions and Diseases: Rare Disorders Sites Alagille Syndrome Alliance Worldwide support network for people who care about people with alagille syndrome hosted by talkcity. 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. Pediatric Database A definition of Alagille syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. Help build the largest human-edited directory on the web.

66. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli Translate this page Syndromic paucity of interlobular bile ducts (alagille syndrome or arteriohepaticdysplasia) Review of 80 cases. alagille syndrome and deletion of 20p. http://orphanet.infobiogen.fr/data/patho/FR/fr-alagille.html

Le syndrome d'Alagille Auteur : Docteur Michelle Hadchouel Editeur scientifique : Professeur Serge Erlinger Nom de la maladie et ses synonymes Nom des maladies exclues Incidence Description clinique ... Etiologie Nom de la maladie et ses synonymes Syndrome d’Alagille, AGS, Nom des maladies exclues Jagged Incidence Environ 1/100 000 naissances. Description clinique Manifestations cardiaques Anomalies oculaires Mode de prise en charge et traitement Etiologie Alagille D, Estrada A, Hadchouel M, et al. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): Review of 80 cases. J Pediatr, 1987, 110 : 195-200. Anad F, Burn J, Matthews D, Cross I, et al. Alagille syndrome and deletion of 20p. J Med Genet, 1990, 27 : 729-37. Cardona J, Houssin D, Gauthier F et al. Liver transplantation in children with Alagille syndrome - a study of twelve cases. Transplantation 1995, 60 : Crosnier C, Lykavieris P, Meunier-Rotival M, Hadchouel M. Alagille syndrome. The widening spectrum of arteriohepatic dysplasia. Clin Liver Dis. 2000, 4:765-78. Hadchouel M. Paucity of interlobular bile ducts. Semin Diagn Pathol, 1992, 9 : 24-3.

67. Abnormalities, Multiple Back to previous level alagille syndrome Search PUBMED for alagille syndromeAll Review Therapy Diagnosis; alagille syndrome; AGS; alagille syndrome Amer. http://www.ohsu.edu/cliniweb/C16/C16.131.77.html

Abnormalities, Multiple Back to previous level Alagille Syndrome Search PUBMED for Alagille Syndrome: All Review Therapy Diagnosis ... Arteriohepatic Dysplasia or Alagille Syndrome: Vanderbilt U. Angelman Syndrome Search PUBMED for Angelman Syndrome: All Review Therapy Diagnosis ... Angelman Syndrome: U. of Reading Basal Cell Nevus Syndrome Search PUBMED for Basal Cell Nevus Syndrome: All Review Therapy Diagnosis ... Basal Cell Nevus Syndrome: Med. Coll. of Wisconsin Beckwith-Wiedemann Syndrome Search PUBMED for Beckwith-Wiedemann Syndrome: All Review Therapy Diagnosis ... Beckwith-Wiedemann Syndrome: Med. Coll. of Wisconsin Bloom Syndrome Search PUBMED for Bloom Syndrome: All Review Therapy Diagnosis Branchio-Oto-Renal Syndrome Search PUBMED for Branchio-Oto-Renal Syndrome: All Review Therapy Diagnosis Cockayne Syndrome Search PUBMED for Cockayne Syndrome: All Review Therapy Diagnosis ... Cockayne syndrome: Med. Coll. of Wisconsin Cri-du-Chat Syndrome Search PUBMED for Cri-du-Chat Syndrome: All Review Therapy Diagnosis ... Cri-du-Chat Syndrome: OMIM De Lange's Syndrome Search PUBMED for De Lange's Syndrome: All Review Therapy Diagnosis Down Syndrome Search PUBMED for Down Syndrome: All Review Therapy Diagnosis ... Down syndrome, facial features, gross: U. of Utah Webpath

68. Electron Beam Angiography:pulmonary Vessels Pulmonary artery anomalies Case 040 alagille syndrome 2 year old girlwith alagille syndrome, including peripheral pulmonic stenosis. http://picubook.net/EB/english/other/images/cardiac/PVessels/PVessel.htm

picuBOOK an on-line resource for pediatric critical care EB angiography home page introduction other pages pulmonary arterial and venous anomalies pulmonary atresia tetralogy of Fallot other systemic vascular anomalies ... Paul T. Pitlick MD , The Division of Pediatric Cardiology, and Geoffrey Rubin MD , The Department of Radiology, Stanford University School of Medicine , and Lucile Packard Children's Hospital , Palo Alto, California 94304 USA electron beam angiography Pulmonary arterial and venous anomalies Pulmonary vein anomalies [Case# 034]: Total Anomalous Pulmonary Venous Return 3 month old boy with total anomalous pulmonary venous return to the innominate. This had been repaired as a neonate. [Case# 042]: Total Anomalous Pulmonary Venous Return 1 day old girl with total anomalous pulmonary venous return to a vertical vein behind the heart. [Case# 046]: Total Anomalous Pulmonary Venous Return Same patient as study #17, at age 8 days, after the anomalous pulmonary veins had been repaired. [Case# 045]: Scimitar Syndrome 16 year old boy with suspected scimitar syndrome.

69. GeneClinics : Alagille Syndrome Back to whats new page. GeneClinics alagille syndrome, Notes forphysicians of Washington, Seattle. alagille syndrome / genetics. http://omni.ac.uk/whatsnew/detail/1103676.html

Back to whats new page. GeneClinics : Alagille Syndrome Notes for physicians on Alagille Syndrome (Arteriohepatic Dysplasia, AHD) covering diagnosis, clinical description, differential diagnosis, management, molecular genetics and genetic counselling. Revised during May 2000, this resource forms part of GeneClinics, a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. Alagille Syndrome / genetics Last modified 10/May/2001 [Low Graphics]

70. GeneReviews : Alagille Syndrome Back to whats new page. GeneReviews alagille syndrome, Notes for physicians requiresbrief registration. alagille syndrome / genetics. http://omni.ac.uk/whatsnew/detail/2023406.html

Back to whats new page. GeneReviews : Alagille Syndrome Notes for physicians on Alagille Syndrome (Arteriohepatic Dysplasia, AHD) covering diagnosis, clinical description, differential diagnosis, management, molecular genetics and genetic counselling. Revised during May 2000, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review, free access to the full-text version of the review requires brief registration. Alagille Syndrome / genetics Last modified 17/Apr/2002 [Low Graphics]

71. Cell And Molecular Biology: Faculty: Nancy Spinner Having identified Jagged1 as the cause of a pediatric disorder (alagille syndrome)in 1997, we have been actively involved in continuing studies of this gene http://www.med.upenn.edu/camb/fac/Spinner.html

Nancy B. Spinner, Ph.D. Associate Professor of Human Genetics in Pediatrics University of Pennsylvania School of Medicine The Children's Hospital of Philadelphia 34th Street and Civic Center Boulevard. #1007 Philadelphia, PA. 19104 Telephone: (215) 590-4177 Email: spinner@mail.med.upenn.edu Research description Our current projects are centered around: Defining genetic modifiers for the variably expressed Alagille syndrome phenotype. Determining the complete range of clinical manifestations of JAG1 mutations Determining how missense mutations lead to lack of function of JAG1 Studying other members of the Notch signaling pathway to determine if they play a role in congenital disease. Studies of newly identified, small chromosome abnormalities in the subtelomeric regions of the genome, to identify additional genes important in human development. References Li, L., Krantz, I.D., Deng, Y., Genin, A., Banta, A.B., Collins, C.C., Qi, M., Trask, B.J., Kuo, W.L., Cochran, J., Costa, T., Pierpont, M.E.M., Rand, E.B., Piccoli, D.A.P., Hood, L. and Spinner, N.B. (1997) Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nature Genet. 16:243-251.

72. JAG1 CM993737, 25, gCGATGA, Arg-Term, alagille syndrome, 1. CM003434, 33, GGT-GAT,Gly-Asp, alagille syndrome, 2. CM003435, 37, TTG-TCG, Leu-Ser, alagille syndrome,2. http://www.uwcm.ac.uk/uwcm/mg/ns/1/6175920.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference gCGA-TGA Arg-Term Alagille syndrome GGT-GAT Gly-Asp Alagille syndrome TTG-TCG Leu-Ser Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome gGAG-TAG Glu-Term Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome TGC-TCC Cys-Ser Alagille syndrome CTC-CAC Leu-His Alagille syndrome cGCC-ACC Ala-Thr Alagille syndrome CCG-CGG Pro-Arg Alagille syndrome ATT-ACT Ile-Thr Alagille syndrome CCC-CTC Pro-Leu Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome gTAT-AAT Tyr-Asn Alagille syndrome cCGC-TGC Arg-Cys Alagille syndrome cCGC-GGC Arg-Gly Alagille syndrome CGC-CAC Arg-His Alagille syndrome CGC-CTC Arg-Leu Alagille syndrome TGT-TCT Cys-Ser Alagille syndrome TACt-TAG Tyr-Term Alagille syndrome TGC-TTC Cys-Phe Alagille syndrome aTGT-GGT Cys-Gly Alagille syndrome TGT-TAT Cys-Tyr Alagille syndrome cCGA-TGA Arg-Term Alagille syndrome TATg-TAA Tyr-Term Alagille syndrome gCAA-TAA Gln-Term Alagille syndrome GGC-GAC Gly-Asp Tetralogy of Fallot TGT-TTT Cys-Phe Alagille syndrome TGGg-TGC Trp-Cys Alagille syndrome TGTc-TGA Cys-Term Alagille syndrome tGAG-TAG Glu-Term Alagille syndrome tGAG-TAG Glu-Term Alagille syndrome gGAG-TAG Glu-Term Alagille syndrome cGGG-AGG Gly-Arg Alagille syndrome cCAG-TAG Gln-Term Alagille syndrome tAAG-TAG Lys-Term Alagille syndrome aCAG-TAG Gln-Term Alagille syndrome TACt-TAG Tyr-Term Alagille syndrome TGT-TTT Cys-Phe Alagille syndrome

73. JAG1 Reference. CD003193, 12, CGGG^CGCCcCCTAAGCCTCCT, alagille syndrome,1. CD993773, 13, GGGCGC^CCCCtAAGCCTCCTG, alagille syndrome, 2. CD003518, http://www.uwcm.ac.uk/uwcm/mg/ns/4/6175920.html

Small deletions Accession Number Location/ codon Deletion Phenotype Reference CGGG^CGCCcCCTAAGCCTCCT Alagille syndrome GGGCGC^CCCCtAAGCCTCCTG Alagille syndrome CCCTG^CTCTGtgCCCTGCGAGC Alagille syndrome TGCTC^TGTGCcCTGCGAGCCA Alagille syndrome CTGTGCC^CTGcgagccaag_E1I1_gtaGGAGCCCTTC Alagille syndrome AACGGG^GAGCtGCAGAACGGG Alagille syndrome CCGCGAC^GAGtgtgacacatacttcAAAGTGTGCC Alagille syndrome CGAATGT^AACagAG_E4I4_GTATGTGT Alagille syndrome GTGTCTCCAG_I5E6_gtgccag^TATGGCACTC Alagille syndrome AGTGC^CTCTGtgAGACCAACTG Alagille syndrome GGAG^ACCTCcCTGGGCTTTGA Alagille syndrome GGCTTT^GAGTgtGAGTGTTCCC Alagille syndrome ACGGA^TTTAAgTGTGTGTGCC Alagille syndrome CCCCA^CAGTGgACTGGGAAAA Alagille syndrome CTGT^CGG_E11I11_GTAtgtaaatcTTTGCTTAAA Alagille syndrome TCCCCTTCTCctcttctaG_I11E12_^GATTTGGTT Alagille syndrome CACTGT^GAGAgaGACATCGATG Alagille syndrome GTGAG^AGAGAcaTCGATGAATG Alagille syndrome GAGAGA^GACAtCGATGAATGT Alagille syndrome CCAGC^AACCCctGTTTGAATGG Alagille syndrome ACCCC^TGTTTgaatGGGGGTCACT Alagille syndrome CAGTGT^CTGTgtCCCACTGGTT Alagille syndrome TCTGC^AAGTGcCCCGAGGACT Alagille syndrome GCACG^ACCCCctGTGAAG_E13I13_GTAC Alagille syndrome AGTGGCC^ATGgCTTCCAACGA Alagille syndrome GTCTGT^GGTCcTCACGGGAAG Alagille syndrome GGTCCT^CACGgGAAGTGCAAG Alagille syndrome CTGTGAC^TGTaacaaagGCTTCACGGG Alagille syndrome TTAAT^GACTGtgAGAGCAACCC Alagille syndrome AATGGG^TGGAaAGGAAAGACC Alagille syndrome GGGTGG^AAAGgaaagACCTGCCACT Alagille syndrome AAGGA^AAGACcTGCCACTCAC Alagille syndrome GACCTGC^CACtCAC_E16I16_GTAAGTG

74. Alagille alagille syndrome. alagille syndrome Alliance,. 10630SW Garden Park Pl. Tigard, OR 97223. (503) 6396217. http://www.childhealthinfo.com/alagille.htm

ALAGILLE SYNDROME Alagille Syndrome Alliance, 10630 SW Garden Park Pl. Tigard, OR 97223 [Home] [Printed Guide] [Child Care for the '90's] [Links] ... MoreInfo@ChildHealthInfo.com

75. Dorlands Medical Dictionary alagille syndrome, an autosomal dominant syndrome of neonatal jaundice, cholestasiswith peripheral pulmonic stenosis, and occasionally septal defects or http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

76. Searchalot Directory For Alagille Syndrome Related Web Sites. Pediatric Database A definition of alagille syndrome, theepidemiology, pathogenesis, clinical features, investigations and management. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Alag

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Alagille Syndrome Related Web Sites 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.

77. Peninsula Molecular Genetics Laboratory, Exeter, UK JAG1 GENE ANALYSIS IN alagille syndrome. Cost Known mutation, £76.88. Sequencingof exons 122, £1025.00. Download alagille syndrome request form. http://www.ex.ac.uk/diabetesgenes/geneticslab/clinicalgenetic/alagille.htm

CLINICAL GENETICS GENE ANALYSIS IN ALAGILLE SYNDROME Germline mutations in the gene are found in approximately 70% of patients who meet clinical diagnostic criteria. Between 50-60% of cases result from a de novo mutation. If the parents of a proband do not have clinical features of Alagille syndrome, sibs of the proband are at low, but slightly increased risk due to germline mosaicism. analysis of exons 1-26 by sequencing Sample required: 2 x 7.5ml blood in EDTA tubes Reporting time: Test for known mutation 1-4 weeks Sequencing exons 1-26 1- 12 weeks Cost: Known mutation Sequencing of exons 1-26 Download Alagille syndrome request form

78. International Society For Pediatric Neurosurgery Moyamoya disease associated with alagille syndrome. Objectives To show that theassociation between moyamoya disease and alagille syndrome is coincidental. http://www.ispn.org/Meetings/Istanbul/Poster41.htm

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

80. Abstract Vertebral anomalies in children with alagille syndrome an analysis of 50 consecutivepatients. Keywords. Spine Biliary - Congenital - alagille syndrome, http://link.springer-ny.com/link/service/journals/00247/contents/01/00599/s00247

Original Article Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients Evelyn Sanderson , Vanessa Newman , Susan F. Haigh , Alastair Baker and Paul S. Sidhu Department of Clinical Radiology, King's College Hospital, Denmark Hill, London SE5 9RS, UK Paediatric Liver Unit, King's College Hospital, London, UK Abstract. Background : Vertebral anomalies may help differentiate Alagille syndrome from other causes of chronic cholestasis. We suspect significant under-reporting of vertebral anomalies in children with Alagille syndrome. Objective : To compare the vertebral anomalies in Alagille syndrome with those in patients with chronic cholestasis due to other causes. The accuracy of original radiographic reporting was evaluated. Materials and methods : Spinal radiographs of 50 patients with Alagille syndrome and 31 non-Alagille syndrome cholestatic patients were evaluated retrospectively by four trained radiologists. The number, site and type of vertebral anomaly were noted. The consensus evaluation was then compared to the original report. Results : Vertebral anomalies were found in 66% of patients with Alagille syndrome and 9.7% of cholestatic control subjects (

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