61. DiGeorge SyndromeµÄ´Ó·¸ The summary for this Chinese (Simplified) page contains characters that cannot be correctly displayed in this language/character set. http://www.biosino.org/tech/2003-09/0306-1.htm

DiGeorge syndromeµÄ´Ó·¸ ÁîÈË×îÓôƵÄÊǵ±ÎÒǵµ½Ò»¸öÎÊÌâµÄ´ð°¸Ê±·¢ÏÖËü±ÈÎÒÇÔ­À´ÏëÏóµÄÒª¸´ÔӵĶࡣDiGeorge syndromeµÄÒÅ´«»ù´¡¾ÍÊÇÕâÑùÒ»¸öÎÊÌ⣬Stalmans£¬Diether Lambrechts and colleagues¶ÔÕâ¸öÎÊÌâµÄÑо¿ÈÎÒǶÔÕâ¸öÎÊÌâµÄÈÏʶÓÖÉîÈëÁË¡£ µ±ÈËÇ·¢ÏÖ´ó¶àÊýµÄDiGeorge syndrome»¼ÕßµÄ22ºÅȾɫÌåÉÏÓÐ3°ÙÍò¸ö¼î»ù¶ÔµÄȱʧ£¬ÄÇ´ÔÚ22q11ÇøÓòÉÏȱʧµÄ»ùÒòÊǼ²²¡µÄÆðÒò¾ÍÊ®·ÖÁîÈË×¢ÒâÁË¡£ÔÚСÊóÖеÄÑо¿·¢ÏÖÈËÀàÖеÄTBX1µÄͬԴ»ùÒò£­×ªÂ¼Òò×ÓTbx1ÊÇ×ï¿ý»öÊס£ µ«ÊÇÈËÇÓÖ·¢ÏÖһЩ»Óдó¶Î»ùÒòȱʧµÄDiGeorge syndrome»¼Õß¾ßÓÐÕý³£µÄTBX1»ùÒò£¬Òò´ËTBX1»ùÒòÄѵÀÖ»ÊÇ´Ó·¸Â𣿠DiGeorge syndrome¼²²¡»áµ¼ÖÂÍþвÉúüµÄ³öÉú¾ßÓеÄÐÄѪ¹ÜȱÏÝ¡£Òò´ËÑо¿Õß½«Ä¿¹â¼¯Öе½Ñª¹ÜÄÚƤÉú³¤Òò×Ó£¨vascular enthothelial growth factor£©VEGFÉÏ£¬Òò´ËÕâ¸öÒò×ÓÊǶÔѪ¹ÜÉú³¤·Ç³£ÖØÒªµÄ¡£ Ñо¿Õß·¢ÏÖVEGFȱʧСÊóµÄ³öÉúȱÏÝÓëDiGeorge syndrome¼²²¡»¼ÕߵıíÐͺÜÀàËÆ¡£¶øÇÒVEGF±í´ïµÄÈȵãÓë22q11ȱʧ¸öÌåµÄ¼²²¡·¢ÉúλµãÏà¹Ø¡£ ÕâЩСÊóÄ£ÐÍÌṩÁËVEGFÓëDiGeorge syndromeÓйصĵÚÒ»¸öÖ¤¾Ý£¬½ÓÏÂÀ´µÄÖ¤¾ÝÔÚ°ßÂíÓãÖеµ½¡£Stalmans£¬Diether Lambrechts and colleagues¡¯·¢ÏÖVEGFµÄȱʧµ¼ÖÂÑÏÖصÄÐÄÔàȱÏÝ¡£ ÄÇ´ÔÚÈËÀàµÄDiGeorge syndrome»¼ÕßÖÐVEGFÓÐʲ´±íÐÍÄØ£¿Ñо¿Õß·¢ÏÖ¶Ô»¼ÕßµÄVEGF»ùÒòÆô¶¯×ÓºÍδ·­ÒëÇøµÄSNP½øÐÐÁË·ÖÎö£¬ËûÇ·ÖÎöÁË91¸öDiGeorge syndrome¼²²¡»¼ÕߺÍ316¸ö¶ÔÕÕÈËȺ£¬·¢ÏÖÁËÒ»¸öµÈλ»ùÒò1154A¶ÔDiGeorge syndrome»¼ÕßµÄÐÄÔàȱÏÝÓÐÊ®·ÖÖØÒªµÄ¹Øϵ¡£ ORIGINAL RESEARCH PAPER PubMed °æȨËùÓС¡All rights reserved.

62. The Scientist :: Gene For DiGeorge Syndrome Gene for digeorge syndrome. Haploinsufficiency of the murine TBX1 gene causes cardiovascular defects similar to features of human digeorge syndrome. http://www.biomedcentral.com/news/20010227/02/

Previous Next Gene for DiGeorge syndrome Haploinsufficiency of the murine 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 haploinsufficiency in mice causes cardiovascular defects and anomalies of the heart outflow tract that resemble the human syndrome. Furthermore

63. :: Ez2Find :: DiGeorge Syndrome Guide digeorge syndrome, Global Metasearch Any Language Guides, digeorge syndrome. ez2Find Home Directory Health http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : DiGeorge Syndrome Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides DiGeorge Syndrome ez2Find Home Directory Health Conditions and Diseases ... Genetic Disorders : DiGeorge Syndrome Related Categories Health: Conditions and Diseases: Genetic Disorders: Velo-Cardio-Facial Syndrome Health: Conditions and Diseases: Immune Disorders Web Sites Dr. Greene's HouseCalls [Site Info] [Translate] [Open New Window] The doctor answers a question from a mother about strengthening her daughter immune system. Her daughter has DiGeorges syndrome. National Library of Medicine: DGS [Site Info] [Translate] [Open New Window] DiGeorge syndrome, the synonyms, a summary and list of major features. URL: http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome268.html

64. DiGeorge Syndrome - General Health Information digeorge syndrome General Health Information. digeorge syndrome. digeorge syndrome General Health Information digeorge syndrome. http://www.allhealthlinks.com/dir/804/1/11.php

DiGeorge syndrome - General Health Information DiGeorge syndrome - General Health Information DiGeorge syndrome DiGeorge syndrome General Health Information DiGeorge syndrome Home Conditions and Diseases Immune Disorders > DiGeorge syndrome Allhealthlinks Directory is a human edited directory, which only includes quality sites that we have approved, in the interest of creating a comprehensive directory of quality health resources. Inclusion in the Allhealthlinks directory can help your health related website in many ways, including: - Increased Traffic - Increased Link Popularity - Increased Sales - Reaching a Targeted Audience Click below for more info: google_ad_client = 'pub-2815073187333366'; google_ad_width = 300; google_ad_height = 250; google_ad_format = '300X250_as'; google_ad_channel = '3846168253'; google_color_border = "f7f7f7"; google_color_bg = "f7f7f7"; google_color_link = "blue"; google_color_url = "blue"; google_color_text = "000001"; Add Url Suggest Category Related Keywords Cross-referenced categories in "DiGeorge syndrome - General Health Information": Articles Chat Coupons Deals ... United States Sponsored listings: Buy cheap Phentermine online.

65. Radiology In Ped Emerg Med, Vol 2, Case 2 digeorge syndrome was suspected. Review of his CXR s revealed the absence of a thymic shadow consistent with thymic aplasia (a feature of digeorge syndrome). http://www.hawaii.edu/medicine/pediatrics/pemxray/v2c02.html

Seizure and VSD in 2-month old Infant Radiology Cases in Pediatric Emergency Medicine Volume 2, Case 2 Loren G. Yamamoto, MD, MPH Kapiolani Medical Center For Women And Children University of Hawaii John A. Burns School of Medicine There is cardiomegaly with slightly prominent pulmonary vascularity suggesting a left to right shunt. Compare this CXR to his CXR taken at birth. View CXR at birth. These two normal newborn CXR's show a normal thymus configuration. The upper mediastinum is wider than our DiGeorge patient's CXR. The normal thymus can be very large. It may sometimes protrude to the side exhibiting a "sail sign". The thymus may sometimes be elevated in a pneumomediastinum. The lateral view of the newborn CXR is most important in distinguishing these features. The normal newborn CXR will have the space anterior to the heart filled by the thymus. View normal lateral CXR. The arrows indicate a space anterior and superior to the heart. In adults, this space should be filled with lung tissue (lucent). Obliteration of this space in an adult indicates the presence of right ventricular enlargement or a mediastinal mass. In newborns, this space should be filled with a tissue density (the thymus). If this space is filled with air, it is indicative of a pneumomediastinum. If this space is filled with lung tissue, it is indicative of thymic aplasia or hypolasia. View DiGeorge patient's lateral CXR. Return to Radiology Cases In Ped Emerg Med Case Selection Page Return to Univ. Hawaii Dept. Pediatrics Home Page

66. Cardiovascular Disorders - DiGeorge Syndrome What is digeorge syndrome? The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries What causes digeorge syndrome? http://uuhsc.utah.edu/healthinfo/pediatric/cardiac/digeorge.htm

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. DiGeorge Syndrome What is DiGeorge syndrome? 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: hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels) hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system conotruncal heart defects (i.e., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings) cleft lip and/or palate The name of DiGeorge syndrome was applied to this group of features.

67. Allergy, Asthma, And Immunology - DiGeorge Syndrome However, for the purposes of this content, we will call it digeorge syndrome. What causes digeorge syndrome? What are the features of digeorge syndrome? http://uuhsc.utah.edu/healthinfo/pediatric/allergy/digeorge.htm

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. What is DiGeorge syndrome? 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: hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels) hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system conotruncal heart defects (i.e., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings) cleft lip and/or palate The name of DiGeorge syndrome was applied to this group of features.

68. Di George/Velocardiofacial Syndrome - FISH Analysis offers fluorescence in situ hybridization (FISH)based assays for identifying the deletions of 22q associated with digeorge syndrome, velocardiofacial syndrome http://www.bcmgeneticlabs.org/tests/cyto/digeorgevelocardiofacial.html

DIGEORGE/VELOCARDIOFACIAL SYNDROME FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers fluorescence in situ hybridization (FISH)-based assays for identifying the deletions of 22q associated with DiGeorge syndrome, velocardiofacial syndrome (VCFS), Shprintzen syndrome and isolated conotruncal cardiac defects, and deletions on 10p associated with the DiGeorge Syndrome II locus. The laboratory tests for both critical regions (10p13p14 and 22q11.2) using a dual-probe FISH assay. Clinical Features: The phenotypic features of DiGeorge syndrome consist of thymic aplasia or hypoplasia, hypocalcemia and conotruncal cardiac defects. Many patients die of cardiac complications or infections due to poor immunity. Velocardiofacial (Shprintzen) syndrome often presents with overt or submucous cleft palate, conotruncal defects, hypotonia, dysmorphic facies, developmental delay, small stature and velopharyngeal incompetence. Because of significant overlap of both syndromes, some clinicians refer to this syndrome as 22q11 deletion syndrome. There is significant inter- and intrafamilial clinical variability due to deletion of 22q11. A second deletion of 10p13p14 (DiGeorge Syndrome II) has been associated with similar clinical features.

69. Discarded Thymus Tissue May Save Lives In Digeorge Syndrome Discarded Thymus Tissue May Save Lives In digeorge syndrome Infants DURHAM, NC October 14, 1999 Using thymus tissue that is normally thrown away after http://www.pslgroup.com/dg/13967e.htm

70. Library Pages For X, Y, Rings, Syndromes, Misc. Angelman Syndrome. digeorge syndrome. Fragile X. Genomic Hybridization. Xp duplication. Xq duplication. XXXXY. XXYY, XXXX, XXXXY. digeorge syndrome OMIM Entry 2000. http://www.chromodisorder.org/sytrix/card_list.php3?dbid=82&id=229

71. Health Library - digeorge syndrome. Synonyms The thymus and parathyroid glands are missing or underdeveloped in children with digeorge syndrome. The http://12.42.224.152/Library/HealthGuide/IllnessConditions/topic.asp?hwid=nord74

72. Digeorge.htm digeorge syndrome. The Thymus and Parathyroid Glands The thymus gland is located What is digeorge syndrome? The history of the syndrome http://www.borgess.com/default.asp?Product=PediatricContentProducts&ProductId=91

73. MGZ Munich --- DiGeorge Syndrome digeorge syndrome. Clinical Features. The severity of the clinical picture in digeorge syndrome is very variable. The full clinical http://www.mgz-muenchen.de/english/digeorge.html

MGZ - Munich - Analyses About us Analyses Who is who Contacts ... Address DiGeorge syndrome Clinical Features The severity of the clinical picture in DiGeorge syndrome is very variable. The full clinical picture of the disease often has severe clinical symptoms (i.e. Heart defects, T-cell immune defects), although milder forms have been described. DiGeorge syndrome results from a developmental defect of the 4th and 5th pharyngeal pouches. From this various deformations of the affected organs can occur: Hypoplasia or aplasia of the Thymus with T-cell defects and immune weakness, Hypoplasia of the parathyroid with hypercalcaemia and cramps, heart failure (especially conotruncal defects), facial dysmorphia (widely speced eyes, short palpebral fissures cleft palate, wide bulbous nose, short philtrum, small pointed mouth, microretrogenia, deep seated dysmorphic ears, arrhinocephaly, renal aplasia and skeletal deformations. Genetics The DiGeorge Syndrome as well as VCFS (VCFS or Shprintzen Syndrome) are caused by a deletion in the long arm of chromosome 22 (22q11.2), that leads to a partial monosomy which can be demonstrated in approximately 90% of the patients. As with the other microdeletion syndromes isolated cases exist although families exist with several affected members. The inheritance pattern indicates dominant inheritance with variable degrees of expression. 15 - 20 % of affected individuals have inherited the deletion from an apparently healthy parent which shows that facial dysmorphia can be inherited.

74. 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 http://www.biotech.ist.unige.it/cldb/pat380.html

Version Short description of cell lines. Pathology: DiGeorge 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 skin, fibroblast GEIMM By Beatrice...

75. DukeMedNews DiGeorge Syndrome Treatment Featured On North The September 12 broadcast of North Carolina Now will include a feature segment about thymus transplantation treatment for digeorge syndrome. http://news.mc.duke.edu/news/article.php?id=7035

76. DiGeorge Syndrome digeorge syndrome. absent thymus + parathyroids (branchial cleft anomaly). can t diagnose from CXR (stress or infection involution of thymus). http://chorus.rad.mcw.edu/to-go/00591.html

DiGeorge syndrome absent thymus + parathyroids (branchial cleft anomaly) can't diagnose from CXR (stress or infection > involution of thymus) Home Multisystem entities

77. University Of Chicago Researchers Find Cause Of Common Genetic Disorder genetic abnormalities in mice that are responsible for the multiple malformations associated with a human disorder called digeorge syndrome, which is the http://www-news.uchicago.edu/releases/01/010301.crkl.shtml

March 1, 2001 Contact: John Easton jeaston@mcis.bsd.uchicago.edu University of Chicago researchers find cause of common genetic disorder Researchers from the University of Chicago, Columbia University and Baylor have separately identified genetic abnormalities in mice that are responsible for the multiple malformations associated with a human disorder called DiGeorge syndrome, which is the second most common genetic cause of heart defects. A team led by Akira Imamato, Ph.D., assistant professor in the Ben May Institute for Cancer Research and the Center for Molecular Oncology at the University of Chicago, found that mice lacking a functional version of gene known as CRKL have multiple defects of the heart, thymus and facial structures. These defects closely resemble DiGeorge syndrome. The other research teams focused on a different gene, called , which regulates other genes that control the development of the blood vessels closest to the heart. Both genes are found in or near a small region of the mouse chromosome 16, which is similar to human chromosome 22. Patients with DiGeorge syndrome often have a small piece missing from chromosome 22. Researchers have long searched for the 30 or so genes that are lost when a portion of that chromosome is missing. These studies appear to pinpoint which of those genes are the key players in the development of this disease.

78. Columbia News ::: Graduate To Continue Research On Understanding DiGeorge Syndro Graduate to Continue Research on Understanding digeorge syndrome. By James Devitt. Loydie JeromeMajewska. As a teenager, Loydie Jerome http://www.columbia.edu/cu/news/02/05/cv_diGeorge_student.html

the Public Affairs and Record Home Page Current News News Archive Video Briefs Video Forums ... Home Page Graduate to Continue Research on Understanding DiGeorge Syndrome By James Devitt Loydie Jerome-Majewska As a teenager, Loydie Jerome-Majewska wanted to be a doctor. But after volunteering in the emergency room of a hospital in Queens during her senior year in high school, she quickly learned that she couldn't stand the sight of blood. She eventually set her sights on laboratory work and completed her Ph.D. with distinction in December in the Integrated Program in Cellular, Molecular and Biophysical Studies at Columbia's Health Sciences Campus. While Jerome-Majewska's aversion to the sight of blood did not cease, she remains dedicated to addressing an affliction that complicates the distribution of blood throughout the body. Her research focused on the function of a transcription factor gene, Tbx1, as the key gene in DiGeorge Syndrome, an affliction that results from abnormal development of the face, thymus and parathyroid glands, and heart. DiGeorge Syndrome, the second most common cause of congenital heart defects after Down Syndrome, affects 1 in 3,000 to 4,000 children born each year. "When Loydie joined the laboratory, this obscure gene had been recently discovered and was known to be a candidate for involvement in DiGeorge Syndrome," said Virginia Papaioannou, a professor of genetics and development, who supervised Jerome-Majewska's dissertation. "However, 20 or 30 other genes were also candidates, and Tbx1 was not the current favorite. During the course of her studies, Loydie characterized the Tbx1 genomic locus, compared the mouse gene with the human, and produced a mutation in the mouse gene using gene targeting technology. Her work established this gene as the key gene in the DiGeorge Syndrome and had a profound impact on research on this human disorder."

79. Alexa Web Search - Subjects > Health > Conditions And Diseases > Genetic Disorde digeorge syndrome Subjects Health Conditions and Diseases Genetic Disorders digeorge syndrome. Sort by Most Popular. http://www.alexa.com/browse/general?catid=521635&mode=general

80. News Release From UT Southwestern: Researchers Isolate Gene For DiGeorge Syndrom Researchers isolate gene for digeorge syndrome. Flourescent in situ hybridization (FISH) analysis of a normal individual (D) and http://irweb.swmed.edu/newspub/newsdetl.asp?story_id=109

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