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Digeorge Syndrome:     more detail

Educating Children with Velo-Cardio-Facial Syndrome (Genetics and Communication Disorders Series) by Donna Landsman, 2007-04-15 DiGeorge Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-09-20 Velo-Cardio-Facial Syndrome, Volume I (Genetic Syndromes and Communication Disorders) by Robert J. Shprintzen, Karen J. Golding-Kushner, 2008-07-01 Noninfectious Immunodeficiency-Related Cutaneous Conditions: Digeorge Syndrome, Chronic Granulomatous Disease, Severe Combined Immunodeficiency Live vaccines appear safe in DiGeorge syndrome patients. (Varicella, MMR Vaccine).: An article from: Pediatric News by Timothy F. Kirn, 2003-03-01 DiGeorge syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Judith, MS Sims, Rebecca, PhD Frey, 2006 Gale Encyclopedia of Medicine: DiGeorge syndrome by Rebecca J. Frey PhD, 2002-01-01 DiGeorge Syndrome: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Rebecca, PhD Frey, 2006

lists with details

61. Ask A Scientist - DiGeorge Syndrome
    What is the DiGeorge chromosomal defect? answer. digeorge syndrome is a genetic disease that causes the thymus not to form. The thymus is where lymphocytes  
    http://www.hhmi.org/cgi-bin/askascientist/highlight.pl?kw=&file=answers/genetics

62. DiGeorge Syndrome
    DiGeorge s Syndrome (Thymic Hypoplasia). Selective Tcell deficiency resulting from failure of development of the 3rd and 4th pharygeal pouches (thymus,  
    http://arapaho.nsuok.edu/~castillo/DiGeorgesyndrome.html
    
    Extractions: Home Table of Contents Overview Map Icon Legend IMMUNOPATHOLOGY Richard Castillo, OD,DO castillo@nsuok.edu new tree (TREE_ITEMS, TREE_TPL); Home 7. Categories of Immune Disorders 7.3 Deficiency states/Immunodeficiency Syndromes 7.3.1 Primary immunodeficiencies ... Primary (T-cell) cell-mediated deficiency DiGeorge syndrome Previous Next DiGeorge syndrome DiGeorge's Syndrome (Thymic Hypoplasia) Top General Pathology Spring 2005 Powered By MindManager X5 Last updated:

63. NORD - National Organization For Rare Disorders, Inc.
    digeorge syndrome is a rare immunodeficiency disorder characterized by various The primary problem caused by digeorge syndrome is the repeated  
    http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=DiGeorge Synd

64. DiGeorge Syndrome Topic - Unified Search Environment
    digeorge syndrome Topic Tree digeorge syndrome MSH/MH/D004062 CSP/PT/04279991 ICD9CM/PT/279.11 MSH/PM/D004062 DI GEORGE SYNDROME DXP/SY/NOCODE  
    http://www.use.hcn.com.au/portals/shared/subject.`DiGeorge Syndrome`/home.html

65. TheFetus.net - Interrupted Aortic Arch With Thymic Hypoplasia: DiGeorge Syndrome
    This is a case of interrupted aortic arch, part of the digeorge syndrome. Note the ascending aorta with the brachiocephalic vessels (type A) with  
    http://www.thefetus.net/page.php?id=53

66. Caremark.com
    digeorge syndrome (also called congenital thymic hypoplasia, The prevalence of digeorge syndrome, is debated; the estimates range from 14000 to 16395.  
    http://www.caremark.com/wps/portal/_s.155/5522/.cmd/ad/.pm/-/.c/1703/.ce/5535/.p

67. HUM-MOLGEN: Gene Involved In Digeorge Syndrome Identified
    news section of the international communication forum in human genetics hummolgen.  
    http://hum-molgen.org/NewsGen/03-2001/msg04.html
    
    Extractions: home genetic news bioinformatics biotechnology ... register for news alert March, 1 2001 3:34 CATCH 22 In the 1 March issue of Nature (Vol. 410, No. 6824, 01 March 2001), researchers from Baylor College of Medicine in Texas pinpoint the gene behind one of the most common genetic diseases to affect humans: DiGeorge syndrome. The disease results in a broad spectrum of symptoms, including heart abnormalities, disruption of the immune system and facial morphology. DiGeorge syndrome affects around 1 in 4,000 babies born, and next to Down syndrome it is the most common genetic cause of heart defects. DiGeorge syndrome is caused by deletions of large sections of DNA from our smallest chromosome: chromosome 22. Up to one tenth of this chromosome’s 33 million DNA base pairs can be missing from the genome of DiGeorge syndrome patients. A large number of genes lie within this section of DNA (known as 22q11.2), but until now researchers have been unable to pinpoint the exact gene, or genes, which directly cause the disease. Antonio Baldini and colleagues used state-of-the-art genetic techniques to test a number of candidate genes in a mouse model of DiGeorge syndrome. This model allows them to identify a gene known as Tbx1— a control gene that switches on the expression of other genes during development—as being responsible for the main cardiac symptoms of the disease. The finding brings to an end the long search for a gene involved in DiGeorge syndrome, and provides scientists with insight into both the disease, and the normal development of complex organs like the heart.

68. Deconstructing DiGeorge Syndrome - Nature Genetics
    Deconstructing digeorge syndrome. Martina Schinke Seigo Izumo digeorge syndrome is the most frequent contiguousgene deletion syndrome in humans,  
    http://www.nature.com/doifinder/10.1038/85784
    
    Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications News and Views Nature Genetics sizumo@caregroup.harvard.edu DiGeorge syndrome is the most frequent contiguous-gene deletion syndrome in humans, occurring with an estimated frequency of 1 in 4,000 live births. Extensive microdeletion mapping in a large number of affected individuals has failed to identify a single gene or a combination of genes commonly deleted. Two new studies implicate the transcription factor TBX1 as a key candidate gene for the aortic arch malformations seen in DGS, and are consistent with the concept that some congenital diseases are caused by a reduced dosage of genes that control development. However, a similar study focusing on the adaptor protein Crkol shows that other genes within the deleted regions might affect the same developmental pathways. Top Abstract Previous Table of contents Full text Download PDF ... Save this link See also: See also: Letter by Guris et al.

69. DiGeorge Syndrome
    digeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities  
    http://webcenter.health.webmd.netscape.com/hw/heart_disease/nord74.asp
    
    Extractions: You are in All Conditions ADD/ADHD Allergies Alzheimer's Arthritis Asthma Back Pain Bipolar Disorder Breast Cancer Cancer Cholesterol Management Dental Depression Diabetes Epilepsy Eye Health Heart Disease Hepatitis HIV/AIDS Hypertension Men's Conditions Mental Health Migraines/Headaches Multiple Sclerosis Osteoporosis Parkinson's Sexual Conditions Stroke Weight Control Women's Conditions

70. NEJM -- Transplantation Of Thymus Tissue In Complete DiGeorge Syndrome
    Original Article from The New England Journal of Medicine Transplantation of Thymus Tissue in Complete digeorge syndrome.  
    http://content.nejm.org/cgi/content/short/341/16/1180
    
    Extractions: M. Louise Markert, M.D., Ph.D., Andreas Boeck, M.D., Laura P. Hale, M.D., Ph.D., Amy L. Kloster, B.S., Tanya M. McLaughlin, B.A., Milena N. Batchvarova, M.S., Daniel C. Douek, Ph.D., Richard A. Koup, M.D., Donna D. Kostyu, Ph.D., Frances E. Ward, Ph.D., Henry E. Rice, M.D., Samuel M. Mahaffey, M.D., Sherrie E. Schiff, Rebecca H. Buckley, and Barton F. Haynes Editorial by Weissman, I. L. ... PubMed Citation ABSTRACT Background The DiGeorge syndrome is a congenital disorder that affects the heart, parathyroid glands, and thymus. In complete DiGeorge syndrome, patients have severely reduced T-cell function. Methods We treated five infants (age, one to four months) with complete DiGeorge syndrome by transplantation of cultured postnatal thymus tissue. Follow-up evaluations included immune phenotyping and proliferative studies of peripheral-blood mononuclear cells plus biopsy of the thymus allograft. Thymic production of new

71. BabyCenter | Community: BBS - Chromosome Disorders | DiGeorge Syndrome
    He has a lot of the facial features characteristic of digeorge syndrome. Does anyone out there know anything about this I don t know what to do for her.  
    http://bbs.babycenter.com/board/baby/babyills/babyconditions/1378212/thread/2077
    
    Extractions: Wish you could do something? Click here to donate to the American Red Cross. Back to Chromosome disorders Messages First Last Author: May 4, 2005 , 5:58 AM (PDT) Hi Everyone, My friend just had a baby boy at 34 weeks on Friday, who has Tetrology of Fallot and which they found out about at 18 weeks. Just yesterday a geneticist came to talk to them to say that she believes he also has DiGeorge Syndrome, although she had an amnio and it came back clear, so I don't understand how he could have this syndrome. He has a lot of the facial features characteristic of DiGeorge Syndrome. Does anyone out there know anything about this I don't know what to do for her. THis is her second baby, and her first died before birth due to severe heart and other issues. He is alive and in NICU and doing well, so we are all so happy for that, but now this new issue has come up. Thanks in advance if any of you know anything about this.

72. Meet Other People With Digeorge Syndrome In Your Area! - Meetup.com
    Have a product or service for People With digeorge syndrome? Your message here Other Meetup Topics Popular with People With digeorge syndrome  
    http://digeorge.meetup.com/
    
    Extractions: @import url("http://www.meetup.com/templates/default_v2/site.css"); @import url( http://www.meetup.com/templates/default_v2/images.css ); To organize a local Hurricane Support Meetup for free, email us All Digeorge Syndrome Meetup Groups What's this? Add to your site google_color_bg = 'eef6fe'; google_color_border = 'D6E3F6'; google_color_line = 'bdd0ee'; google_alternate_color = 'eef6fe'; google_hints = "Digeorge Syndrome"; Country United States of America Canada Great Britain Australia Afghanistan Albania Algeria American Samoa Andorra Angola Anguilla Antarctica Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia-Herzegovina Botswana Brazil Brunei Bulgaria Burkina Faso Burundi Cambodia Cameroon Canada Cape Verde Cayman Islands Central Africa Chad Chile China Colombia Comoros Congo Congo (Dem. Rep.)

73. The Tuscaloosa DiGeorge Syndrome Meetup Group - Meetup.com
    All digeorge syndrome Meetup Group with 15 People With digeorge syndrome in 1 city! Have a product or service for People With digeorge syndrome?  
    http://digeorge.meetup.com/1/
    
    Extractions: @import url("http://www.meetup.com/templates/default_v2/site.css"); @import url( http://www.meetup.com/templates/default_v2/images.css ); To organize a local Hurricane Support Meetup for free, email us See all Digeorge Syndrome Meetup Group Know any People With Digeorge Syndrome? Tell them about Meetup! The Tuscaloosa DiGeorge syndrome Meetup Group google_color_bg = 'fbf8ed'; google_color_border = 'ede6d4'; google_color_line = 'e0d4bb'; google_alternate_color = 'fbf8ed'; google_hints = "Digeorge Syndrome"; Take any topic – being a mom, practicing French, caring for pugs – if it's something you're interested in, there's a good chance there are others nearby who are interested, too. That's what Meetup is all about– finding the others and getting together – in-person, face-to-face.

74. Allergy & Asthma : What Is DiGeorge Syndrome? - New Hanover
    Allergy Asthma What is digeorge syndrome? New Hanover Health Network of Wilmington, North Carolina serving Pender, New Hanover, Duplin, Onslow,  
    http://www.nhhn.org/13041.cfm
    
    Extractions: The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following:

75. Hill Health Topics A-Z - DiGeorge Syndrome
    digeorge syndrome. National Organization for Rare Disorders. Important It is possible that the main title of the report digeorge syndrome is not the name  
    http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord74&SEC

76. The Scientist :: Gene For DiGeorge Syndrome, Feb. 27, 2001
    Tbx1 haploinsufficiency in the digeorge syndrome region causes aortic arch Jerome LA, Papaioannou VE digeorge syndrome phenotype in mice mutant for the  
    http://www.the-scientist.com/news/20010227/02
    
    Extractions: Please login or register DAILY E-MAIL RSS HANDHELD CURRENT ISSUE DAILY NEWS UPFRONT FEATURE ... ARCHIVES Feb. 27, 2001 Previous Archive Next DAILY NEWS By Jonathan Weitzman DiGeorge syndrome (DGS; also known as Velo-cardio-facial syndrome ) is associated with hemizygous deletion of a region of human chromosome 22q11 , causing a range of abnormalities including cardiovascular defects, hypoplasia of the thymus and parathyroid gland, and craniofacial abnormalities. Three research groups have identified the gene, a member of the T-box family of transcription factors, as a key determinant of the DGS phenotype. Merscher et al Cell :619-629) and Lindsay et al Nature :97-101) used chromosomal engineering induced using the Cre recombinase and artificial chromosome transgenesis to localize the haplosufficiency region on the mouse chromosome, chromosome 16, that corresponds to the human disease region. This region contains the gene, expression of which in the pharyngeal arches makes it a strong candidate gene for DGS. Both groups, together with Jerome and Papaioannou ( Nature Genetics 286-291), show that

77. DGCR6 DiGeorge Syndrome Critical Region Protein 6 DiGeorge Syndrome Critical Reg
    DGCR6 digeorge syndrome critical region protein 6 digeorge syndrome critical region 6 Antibody Search.  
    http://www.biocompare.com/matrixsc/3194/2/6/6926/DGCR6 (DiGeorge syndrome critic

78. Library Pages For X, Y, Rings, Syndromes, Misc.
    digeorge syndrome Fragile X Genomic Hybridization Intrachromosomal triplications Klinefelters Syndrome XXY digeorge syndrome OMIM Entry 2000.  
    http://www.chromodisorder.org/sytrix/card_list.php3?dbid=82&id=229

79. DiGeorge Syndrome
    digeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during  
    http://www.bchealthguide.org/kbase/nord/nord74.htm
    
    Extractions: It is possible that the main title of the report DiGeorge Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. DiGeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during early fetal development. These defects occur in areas known as the 3rd and 4th pharyngeal pouches, which later develop into the thymus and parathyroid glands. Developmental abnormalities may also occur in the 4th branchial arch. Normally the thymus gland is located below the thyroid gland in the neck and front of the chest and is the primary gland of the lymphatic system, which is necessary for the normal functioning of the immune system. The parathyroid glands, located on the sides of the thyroid gland, are responsible for the maintenance of normal levels of calcium in the blood. The thymus and parathyroid glands are missing or underdeveloped in children with DiGeorge syndrome. The symptoms of this disorder vary greatly, depending upon the extent of the missing thymus and parathyroid tissue. The primary problem caused by DiGeorge syndrome is the repeated occurrence of various infections due to a diminished immune system.

80. Short Description Of Cell Lines. Pathology: DiGeorge Syndrome *188400
    Version 4.200205. Short description of cell lines. Pathology digeorge syndrome *188400 OMIM record. By selecting the cell line name, you will receive the  
    http://www.biotech.ist.unige.it/cldb/pat380.html

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