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Jacobsen Syndrome:     more detail

Asperger Syndrome and Psychotherapy: Understanding Asperger Perspectives by Paula Jacobsen, 2003-03 Jacobsen syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Dawn, MS, CGC Cardeiro, 2005 Understanding How Asperger Children and Adolescents Think and Learn: Creating Manageable Environments for AS Students by Paula Jacobsen, 2005-06-15

lists with details

41. Conditions And Diseases/Rare Disorders/Jacobsen Syndrome
    Conditions and Diseases/Rare Disorders/jacobsen syndrome healthboard.  
    http://www.healthboard.com/websites/Conditions_and_Diseases/Rare_Disorders/Jacob

42. Health/Conditions And Diseases/Rare Disorders/Jacobsen Syndrome -- The Doctors L
    Ask the doctor. Get free medical consultation and advice. Choose a medicalspecialist and post your question! Doctors in all medical fields are available.  
    http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Rare_Disorder

43. June Issue.indd
    Keywords Pyloric stenosis, associations, jacobsen syndrome Postnatally, adiagnosis of jacobsen syndrome was made on the basis of the following  
    http://www.rcsed.ac.uk/journal/svol2_3/2030010.html
    
    Extractions: Surg J R Coll Surg Edinb Irel., 2 June 2004, 173-175 Pyloric stenosis is a common paediatric surgical condition with a well-recognised pattern of clinical features. Diagnosis is usually straightforward and a Ramstedt pyloromyotomy is curative. We present three patients who developed pyloric stenosis incidentally during the management of other primary surgical conditions. Issues of diagnostic difficulty following presentation of pyloric stenosis in the post-operative period (all three patients), its rare syndromic associations (one patient) and its management in this unusual situation are discussed. An awareness of the unusual presentations of pyloric stenosis during treatment for other primary surgical conditions can help in earlier diagnosis and treatment INTRODUCTION

44. Human Genetics - Human Telomere 11q
    site FRA11B and a jacobsen syndrome chromosome deletion breakpoint in 11q23.3 . (Y;11) (q11.2;q24) in a 45,X male with signs of jacobsen syndrome.  
    http://genes.uchicago.edu/telomere/11q.html
    
    Extractions: 11q Telomere Hybridization of the unique 11q telomere PAC clone labeled with digoxigenin and detected with anti-digoxigenin rhodamine, and the unique 11p telomere PAC clone, labeled in biotin and detected in avidin-FITC, to normal metaphase chromosome preparations. The 11q telomere clone is PAC 26N8 from the Incyte Genomics (Genome Systems) PAC library, RPCI-1. (Knight and Lese et al. (2000) Am J Hum Genet, 67(2):320-332) Annotated Reference List for 11q Telomere Collaboration, National Institutes of Health and Institute of Molecular Medicine (1996): A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration [published erratum appears in Nat Genet 1996 Dec;14(4):487]. Nat Genet 14( 1): 86 Abstract cosmid/PAC/P1 telomeric probe set for FISH Jones, C.;Slijepcevic, P.;Marsh, S.;Baker, E.;Langdon, W. Y.;Richards, R. I.;Tunnacliffe, A. (1994): Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Hum Mol Genet 3( 12): 2123 Abstract Knight, S. J.;Lese, C. M.;Precht, K. S.;Kuc, J.;Ning, Y.;Lucas, S.;Regan, R.;Brenan, M.;Nicod, A.;Lawrie, N. M.;Cardy, D. L.;Nguyen, H.;Hudson, T. J.;Riethman, H. C.;Ledbetter, D. H.;Flint, J. (2000): An optimized set of human telomere clones for studying telomere integrity and architecture.

45. 188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT
    They suggested that TCPT may be a variant of jacobsen syndrome and that thethrombocytopenia in all cases of 11q23.3 deletion is due to dysmegakaryopoiesis,  
    http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:188025] -e

46. *165360 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE
    the CCG(n) repeat is involved in the pathogenesis of jacobsen syndrome (147791), and a jacobsen syndrome chromosome deletion breakpoint in 11q23.3.  
    http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:165360] -e

47. Opera Directory
    Institute of Child Health jacobsen syndrome. Clinical synopsis, plus researchsummaries. The Fragile WEB Site. Includes a reference database,  
    http://portal.opera.com/directory/?cat=524648

48. Link Directory - Finnish Information Center On Mental Retardation
    Analysis of jacobsen syndrome, G2D GeneCard for BARX2 What is Jacobsen s (or11q Deletion) Syndrome? Earthlink Jacobsen s Syndrome, Family Village  
    http://www.saunalahti.fi/kup/engl/webs_j.html

49. Co-localisation Of CCG Repeats And Chromosome Deletion Breakpoints In Jacobsen S
    We have chosen to study the chromosome deletions of jacobsen syndrome Whilst many chromosome deletions in jacobsen syndrome have been shown to map close  
    http://hmg.oxfordjournals.org/cgi/content/full/9/8/1201
    
    Extractions: This Article Abstract FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: Oxford University Press Christopher Jones Paul Grossfeld Rebecca Auer Remi Favier Ken Chien Michael James Alan Tunnacliffe and Finbarr Cotter Department of Medicine, Cardiac Molecular Biology Program, University of California San Diego, La Jolla, CA 92093-0613, USA, Wellcome Centre of Human Genetics, Nuffield Orthopaedic Centre, Headington, Oxford OX3 7BN, UK and

50. Physical Linkage Of The Fragile Site FRA11B And A Jacobsen Syndrome Chromosome D
    (FRA11B) and the chromosome 11q23 qter deletion in Jacobsen (11q) syndrome.The mother and brother of the reported jacobsen syndrome child are FRA11B  
    http://hmg.oxfordjournals.org/cgi/content/abstract/3/12/2123
    
    Extractions: Department of Pathology, University of Cambridge, UK. Autosomal fragile sites, unlike their X-linked counterparts, are not known to be associated with disease. However, one case report has highlighted a possible relationship between the inheritance of a rare folate-sensitive deletion in Jacobsen (11q-) syndrome. The mother and brother of the

51. Genetics In Medicine - UserLogin
    16 One exception is 11q, otherwise known as jacobsen syndrome. 28 In addition,the fragile site expressed in jacobsen syndrome is folate-dependent.  
    http://www.geneticsinmedicine.org/pt/re/gim/fulltext.00125817-200201000-00003.ht

52. Localization Of Jacobsen Syndrome Breakpoints On A 40-Mb Physical Map Of Distal
    jacobsen syndrome is a haploinsufficiency disorder caused, most frequently byterminal deletion of part of the long arm of chromosome 11, with breakpoints  
    http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=310705

53. Glossary In Congenital Malformations NeuroLearn NeuroHelp
    jacobsen syndrome (deletion 11q syndrome). · Genetics There is deletion ofchromosome 11q23 to qter in most cases and the region related to the clinical  
    http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNG0BS01-J.htm
    
    Extractions: Glossary in Congenital Malformations NeuroLearn NeuroHelp Malformations General ... Z General Syndromes and Sequences Head #Jacobsen syndrome (deletion 11q syndrome): Genetics: There is deletion of chromosome 11q23 to qter in most cases and the region related to the clinical phenotype appears to be located on 11q24.1. Three quarter of the patients are female. Deletion of 11q may arise de novo or from inheriting a derived chromosome from a parent carrying a balanced translocation. Clinical features: Intrauterine growth retardtion and failure to thrive are the early symtoms. There is almost always moderate to severe mental retardation. Except those that die of their cardiac defect, they are compatible with long-term survival. Hypotonia in infancy frequently progress toward spasticity. There are also joint contractures and cardiac defects. Myelodysplastic changes have also been reported. The severity of clinical manifestation may be correlated with the amount of deleted chromosome Ono J et al., Clin Genet 1996 D e c;50(6):474-8 Characteristic cranial facial features: Trigonencephaly and microcephaly are frequently seen. Typical facial features include “carp mouth”, high arched palate, borad and/or flat nasal bridge, micrognathia, hypertelorism, and epicanthal folds.

54. Canadian Directory Of Genetic Support Groups
    (Chromosome) 11q Research and Resource Group jacobsen syndrome, 11q syndrome)Chromosome 18 Registry Research Society (Chromosome 18 13 Disorders)  
    http://www.lhsc.on.ca/programs/medgenet/c_sup.htm

55. My Page
    What are the symptoms of jacobsen syndrome? How did jacobsen syndrome getit s name? How long do jacobsen syndrome Children Live?  
    http://www.jacobsenparents.com/faq.html

56. My Page
    deletion on the long arm of chromosome 11, better known as jacobsen syndrome . I look forward to speaking with anyone with a jacobsen syndrome child,  
    http://www.jacobsenparents.com/ourstory.html
    
    Extractions: Since I wasn't really given an option I went ahead and had it done. During the preceding ultrasound, everyone was very quiet. I figured that was normal procedure for an amnio. Eventually one of the high risk OBGYNs came into the room and explained that Alexis' legs and arms were measuring small, and that her head was a little large. He said that since they were doing the amnio anyway, he was going to run a separate test to check for Down's Syndrome. Of course this went in one ear and out the other because, in my mind, things like that only happened to "other people". Well they did the amnio, her lungs weren't ready, and since my labor had stopped, they sent me home. About a week later, I received a phone call asking me why I never came back for the results. I explained that I had only been at that hospital due to the early gestation, and now that I was further along I was planning to deliver with my own doctor. Besides, I already had what I remembered as being the full results, her lungs weren't ready.

57. Mountain States Genetics Network Homepage
    jacobsen syndrome. Community Connections Jacobsen s Syndrome 11q Research andResource Group Jeune s syndrome (Asphyxiating Thoracic Dystrophy)  
    http://www.mostgene.org/support/i-j.htm
    
    Extractions: Genetic Support Groups I-J The inclusion of any resource or link in MoStGeNe does not imply endorsement. They are provided for educational purposes only. Consult with your health care provider regarding how any educational information found on the Internet may apply to your own situation. = Genetic Alliance Member = NORD Member = Medical Advisory - I - Foundation for Ichthyosis and Related Skin Types Ichthyosis Information and Support International Incontinentia Pigmenti Foundation Infantile Systemic Hyalinosis Infertility Infertility Resources RESOLVE: The National Infertility Association Intersex Society of North America Iron Overload Diseases American Hemochromatosis Society Haemochromatosis Society England Iron Disorders Institute Iron Overload Diseases Association, Inc.

58. Centre For Genetics Education:: Disorder Information And Support
    Ivemark Syndrome J jacobsen syndrome Jeune Syndrome Job Syndrome Johanson BlizzardSyndrome Joubert Syndrome K Kabuki Syndrome Kallmann Syndrome  
    http://www.genetics.com.au/conditions/main.htm

59. KoreaMed - Basic Search
    jacobsen syndrome is a clinical disorder characterized by a deletion of the We herein report a case of jacobsen syndrome in male premature neonate born  
    http://www.koreamed.org/SearchBasic.php?RID=183067&DT=1&QY=J Korean Soc Neonato

60. Abstract
    Mapping of the deleted segment in patient with jacobsen syndrome We presenta two months old girl with jacobsen syndrome and pancytopenia.  
    http://web.feccbologna.it/7_9.htm
    
    Extractions: ABSTRACT Mapping of the deleted segment in patient with Jacobsen syndrome J. Brezinova , S. Kurkova , Z. Zemanova , L. Sindelarova , M. Jarosova , D. Novotna , V. Krutilkova , J. Stary and K. Michalova Institute of Hematology and Blood Transfusion, Prague, Czech Republic Center of Oncocytogenetics, General Faculty Hospital and 1st Medical Faculty of Charles University, Prague, Czech Republic University Hospital Olomouc, Czech Republic 2nd Medical Faculty of Charles University, Prague, Czech Republic Jacobsen syndrome was first observed in 1973. It is a clinically characteristic disorder due to deletion of the terminal band 11q23. The features of the syndrome are growth retardation, psychomotoric retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus and isoimmune thrombocytopenia. The deleted segment is variable in size and breakpoint localization, the largest deletion extends from 11q23.3 to 11qter. We present a two months old girl with Jacobsen syndrome and pancytopenia. Classical cytogenetic analysis of bone marrow cells revealed karyotype 46,XX,inv(9),del(11)(q23). We performed comparative genomic hybridization (CGH), mBAND for chromosome 11 and FISH analyses with five locus specific probes, localized in 11q23.3-11q25 region for precise mapping of the deleted segment. As the deletion of MLL gene localized in 11q23.3 can be found in patients with hematological malignancies, we used LSI MLL Dual Color probe (VYSIS). Three bacterial arteficial chromosomes (BACs), containing sequences for CBL gene in 11q23.3, (bA680A7), FLI1 gene in 11q24.3 (bA744N12), and for subtelomeric region 11q (bA209L12) kindly provided by Dr. M. Rocchi (University of Bari, Italy) were used. Probes were directly labeled by nick translation using SpectrumOrange and SpectrumGreen. To determine the subtelomeric deletion ToTelVysion probe for 11q, directly labeled (VYSIS) was used.

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