81. Columbia News ::: Graduate To Continue Research On Understanding DiGeorge Syndro digeorge syndrome, the second most common cause of congenital heart defects Her work established this gene as the key gene in the digeorge syndrome and 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."

82. Children's Hospital Of NewYork-Presbyterian What is digeorge syndrome? The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries http://wo-pub2.med.cornell.edu/cgi-bin/WebObjects/PublicPediatrics.woa/1/wa/view

83. HighWire -- Browse Journals - DiGeorge Syndrome Browse Journals publishing on digeorge syndrome, (return to Topic List page) Journals focusing on digeorge syndrome (in order by highest focus) http://highwire.stanford.edu/lists/topic_dir/608683/618131/626532/626634/626664/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on DiGeorge Syndrome: (return to Topic List page) DiGeorge Syndrome Sort by: Alphabet Frequency of articles in DiGeorge Syndrome Focus of journal on DiGeorge Syndrome What's this? Journals focusing on DiGeorge Syndrome (in order by highest focus) Archives of Ophthalmology info Blood info ... Immunologic Deficiency Syndromes DiGeorge Syndrome Home Adv. Search For Institutions For Publishers ... partners/suppliers

84. DiGeorge Syndrome A Novel 22q11.2 Microdeletion in digeorge syndrome B cell nonHodgkin s lymphoma in a girl with the DiGeorge anomaly digeorge syndrome associated with http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=98

85. Case 127 --Pediatric Pathology Case Fluorescent in situ hybridization of the buccal mucosa found a 22q11 deletion, confirming the diagnosis of digeorge syndrome. The infant received broad http://path.upmc.edu/cases/case127.html

Case 127 A 24-day-old Term Infant with Seizures Contributed by Valerie A. Lyons, M.D. and Paul S. Dickman, M.D. Published on line in February 1998 PATIENT HISTORY: This 24-day-old term infant had an uncomplicated prenatal history and developed failure to thrive and seizures. He received 60cc of unirradiated packed red blood cells for anemia of unknown etiology and prophylactic antibiotic therapy for possible sepsis as evidenced by seizures. Following transfusion therapy, a chest x-ray and echocardiogram revealed an enlarged heart and truncus arteriosus with a large ventricular septal defect. The infant was admitted to Children's Hospital of Pittsburgh (CHP) in congestive heart failure. On physical exam the infant appeared normal. Seizure activity remitted with calcium supplementation. The infant developed an erythematous papular rash, predominantly on the face, trunk and upper extremities. Skin biopsy revealed histologic features suggestive of a drug rash, with mild eosinophilia in the papillary dermis and vascular channels. Fluorescent in situ hybridization of the buccal mucosa found a 22q11 deletion, confirming the diagnosis of DiGeorge syndrome. The infant received broad spectrum antibiotics and antifungal therapy for possible sepsis. A tracheal aspirate grew E. cloacae and a urine culture grew Candida species. All other cultures failed to identify organisms.

86. Researchers Isolate Gene For DiGeorge Syndrome -- The Most Common Genetic Cause Researchers at UT Southwestern Medical Center at Dallas have isolated the gene they believe is responsible for the most common genetic cause of heart and http://www.sciencedaily.com/releases/1999/02/990222073627.htm

@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 ... Advertise With Us Source University Of Texas Southwestern Medical Center At Dallas Date Print this page Email to friend Researchers Isolate Gene For DiGeorge Syndrome The Most Common Genetic Cause Of Heart And Facial Birth Defects DALLAS - February 19, 1999 - Researchers at UT Southwestern Medical Center at Dallas have isolated the gene they believe is responsible for the most common genetic cause of heart and facial birth defects. Related News Stories Specific Gene Mutations Responsible For Congenital Heart Defects (July 8, 2003) Researchers at UT Southwestern Medical Center at Dallas have discovered a gene critical to the development of the human heart and that mutations in the gene lead to congenital heart defects the ... full story Gene That Helps Blood Vessels Form Linked To Complex Birth Defect (February 6, 2003) A gene known for its ability to form blood vessels has been found to be a key player in a chromosomal abnormality that causes potentially devastating birth defects in the heart and throughout the ... full story Scientists Create First Animal Model Of Rett Syndrome (March 7, 2001)

87. Immune System Diseases digeorge syndrome and chromosome 22 Genes and Disease/NCBI/NIH (US). Discarded Thymus Tissue May Save Lives In digeorge syndrome Infants Oct 99 - via http://www.mic.ki.se/Diseases/C20.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Immune System Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Agammaglobulinemia Anaphylaxis Antiphospholipid Syndrome Ataxia Telangiectasia ... Wiskott-Aldrich Syndrome Immune System Diseases Immonology [Bowers et al.; educ.] - Univ of South Carolina (US) A 4-pages introduction to The Immune System - Nobel Foundation Understanding the Immune System - NCI/NIH (US) The Anatomy of the Immune System , and an Immunology Glossary - Univ of Leicester (UK) The Immune System P Bugl ] -Univ of Hartford (US) Basic Immunology [G Heath] - Optometry Today, Feb 2002 (UK) Understanding the Immune System [Schindler et al.] - Cancer.gov (US) Immunobiology. 5th ed. [Janeway et al., 2001; online book] - via PubMed, NLM (US) The Lymphatic System and Immunity [MJ Farabee] An Immunology Study Sheet - Medical Study Guides, Univ of Kansas (US)

88. Headlines Index digeorge syndrome. 1999; Gland transplant creates immune system for babies Researchers identify gene linked to birth defect; Back to top http://www.canoe.ca/Health/index_d.html

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89. Discarded Thymus Tissue May Save Lives In Digeorge Syndrome Infants The children suffered from digeorge syndrome, a rare disorder digeorge syndrome is primarily a genetic disorder that arises before birth and can affect http://www.pslgroup.com/dg/13967e.htm

90. National Primary Immunodeficiency ResourceCenter PDF Babies with digeorge syndrome Saved by Immune Supression, Thymus http://www.info4pi.org/patienttopatient/index.cfm?section=patienttopatient&conte

91. Digeorge Syndrome | Children | Patient Education The history of the syndrome, previously referred to as DiGeorge, What causes digeorge syndrome? As mentioned, 90 percent of patients with the features http://www.cooperhealth.org/heart/greystone/children/digeorge.htm

Cooper Health Home Heart Home Directions Site Map You are in Patient Education Heart Conditions in Children 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)

92. Velo-Cardio-Facial Educational Foundation VCFS also known as the Shprintzen syndrome, digeorge Sequence and, regrettably, Catch 22 is caused by the deletion of a small segment of the long arm http://www.vcfsef.org/

Velo-Cardio-Facial Syndrome Educational Foundation, Inc. Thanks to all who attended and helped to make the 11th International Scientific Meeting of the VCFS Educational Foundation a GREAT success !!! More news to follow soon! Stay tuned for web updates. Welcome to the Official Web Site of the Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation , Inc. The Foundation is an international not-for-profit organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of and not affiliated with any particular institution. VCFS also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and over 180 other clinical findings. Please see the VCFS Fact Sheet for details.

93. Introduction: DiGeorge's Syndrome - WrongDiagnosis.com Introduction to digeorge s syndrome as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/d/digeorges_syndrome/intro.htm

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: DiGeorge's syndrome Next sections Basic Summary for DiGeorge's syndrome Symptoms of DiGeorge's syndrome Treatments for DiGeorge's syndrome Glossary for DiGeorge's syndrome Next chapters: Prader-Willi syndrome Velocardiofacial syndrome Translocation Chromosome Disorders Turner Syndrome ... Feedback Introduction: DiGeorge's syndrome DiGeorge's syndrome: Rare form of primary immune deficiency Researching symptoms of DiGeorge's syndrome: Further information about the symptoms of DiGeorge's syndrome is available including a list of symptoms of DiGeorge's syndrome , or alternatively return to research other symptoms in the symptom center Treatments for DiGeorge's syndrome: Various information is available about treatments available for DiGeorge's syndrome , or research treatments for other diseases. Contents for DiGeorge's syndrome: Basic Summary for DiGeorge's syndrome Symptoms of DiGeorge's syndrome Treatments for DiGeorge's syndrome Glossary for DiGeorge's syndrome ... Diseases Did we miss something? Please provide

94. Symptoms Of DiGeorge's Syndrome - WrongDiagnosis.com Symptoms of digeorge s syndrome including signs, symptoms, incubation period, duration, and correct diagnosis. http://www.wrongdiagnosis.com/d/digeorges_syndrome/symptoms.htm

Home Symptoms Diseases Risks ... DiGeorge's syndrome Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: DiGeorge's syndrome Next sections Treatments for DiGeorge's syndrome Glossary for DiGeorge's syndrome Next chapters: Prader-Willi syndrome Velocardiofacial syndrome Translocation Chromosome Disorders Turner Syndrome ... Feedback Symptoms of DiGeorge's syndrome General information about symptoms of DiGeorge's syndrome: The symptom information on this page attempts to provide a list of some possible symptoms of DiGeorge's syndrome. This symptom information has been gathered from various sources, may not be fully accurate, and may not be the full list of symptoms of DiGeorge's syndrome. Furthermore, symptoms of DiGeorge's syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of symptoms and whether they are indeed symptoms of DiGeorge's syndrome. List of symptoms of DiGeorge's syndrome: The list of symptoms mentioned in various sources for DiGeorge's syndrome includes: Immune deficiency Recurrent infections Underdeveloped thymus gland Lack of T-cells ... Convulsions More symptoms of DiGeorge's syndrome: In addition to the above information, to get a full picture of the possible symptoms of this condition and its related conditions, it may be necessary to examine symptoms that may be caused by complications of DiGeorge's syndrome, underlying causes of DiGeorge's syndrome, associated conditions for DiGeorge's syndrome, risk factors for DiGeorge's syndrome, or other related conditions.

95. DiGeorge's Syndrome (www.whonamedit.com) digeorge s syndrome A condition characterised by abnormality of the thymus, parathyroids and great vessels arising from developmental failure of the third http://www.whonamedit.com/synd.cfm/2299.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related DiGeorge's syndrome Also known as: DiGeorge’s anomaly DiGeorge’s sequenz Synonyms: CATCH22 (Cardiac Abnormality/abnormal facies, T cell deficit due to thymic hypoplasia, Cleft palate, Hypocalcaemia due to hypoparathyroidism resulting from 22q11 deletion), congenital aplasia of thymus, familial third and fourth pharyngeal pouch syndrome, immunodeficiency with hypoparathyroidism, pharyngeal pouch syndrome, third and fourth pharyngeal pouch syndrome, thymic and parathyroid agenesis syndrome, thymic aplasia syndrome. Associated persons: Angelo Mari DiGeorge Description: A condition characterised by abnormality of the thymus, parathyroids and great vessels arising from developmental failure of the third and fourth pharyngeal pouches. It is associated with facial deformity (ears, nose and mouth), hypoparathyroidism, and frequent infections (to which resistance is low), due to lack of T cell lymphocytes. B cell lymphocytes are present in normal numbers and immunoglobulin levels may be normal. Most infants die from infections, cardiovascular defects or seizures within the first few months or second year of life. Patients who survive infancy are usually mentally retarded. The syndrome is twice as common males as in females. Most cases are sporadic, but it also occurs as autosomal recessive, autosomal dominant, and X-linked traits.

96. DiGeorge's Syndrome this syndrome must have both parathyroid dysfunction (lack of PTH) and Tcell dysfunction. CAUSES. congenital. ICD-9-CM 279.11 digeorge s syndrome http://www.5mcc.com/Assets/SUMMARY/TP1062.html

DiGeorge's syndrome DESCRIPTION: An embryonic fault in the derivation of the thymus and parathyroid glands. Also with defects in the aortic arch and heart, hypoplastic mandible, defective ears, and short philtrum. Marked variability occurs, but patient with this syndrome must have both parathyroid dysfunction (lack of PTH) and T-cell dysfunction. CAUSES: congenital ICD-9-CM: 279.11 DiGeorge's syndrome Author(s): Mark R. Dambro, MD

97. DiGeorge, Syndrome : Sites Et Documents Francophones syndrome de digeorge . historique du syndrome digeorge ; symptômes ; développement http://www.chu-rouen.fr/ssf/pathol/digeorgesyndrome.html

DiGeorge, syndrome Définition [MeSH Scope Note ; traduction CISMeF] : Syndrome congénital lié à l'absence du thymus et des parathyroïdes causant l'affaiblissement de l'immunité cellulaire. Les niveaux d'immunoglobulines sont normaux. Synonyme(s) CISMeF DiGeorge. Synonyme(s) MeSH Immunodéficit héréditaire de DiGeorge ; Syndrome de DiGeorge Arborescence(s) DiGeorge, syndrome DiGeorge syndrome maladies du système immunitaire maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : Qualificatifs : diagnostic guide ressources Microdélétion 22q11 - synonyme(s) et inclusion(s) : CATCH 22 ; DiGeorge, syndrome de ; vélo-cardio-facial, syndrome [Par Pr Philip N. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 26/05/2003].

98. Digeorge, Syndrome : Arborescences MeSH http://www.chu-rouen.fr/navimesh/D/navidigeorgesyndrome.html

Digeorge, syndrome : arborescences MeSH Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF maladies et malformations congénitales, héréditaires et néonatales malformations anomalies chromosomiques DiGeorge, syndrome ... syndrome de Wiskott-Aldrich 25 février 2005 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

99. DiGeorge's Syndrome Information Diseases Database digeorge s syndrome,Third and fourth pharyngeal arch syndrome of Di George,CATCH phenotype, Disease Database Information. http://www.diseasesdatabase.com/ddb3631.htm

Diseases Database Index Sponsors Contact ... Previous Page DiGeorge's syndrome information Search 3 synonyms or equivalents were found. DiGeorge's syndrome aka/or Third and fourth pharyngeal arch syndrome of Di George aka/or CATCH phenotype may cause or feature (Follow link for list.) may be associated with (Follow link for list.) may be allelic with (Follow link for list.) belong(s) to the category of (Follow link for list.) DiGeorge's syndrome: Definition(s) via UMLS Code translations and terms via UMLS DiGeorge's syndrome: specific web sites Send DiGeorge's syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 03:07:05 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

100. DiGeorge Sequence/Velocardiofacial Syndrome digeorge Sequence/Velocardiofacial syndrome (Catch22; Hypoplasia Of Thymus and Parathyroids; Third and Fourth Pharyngeal Pouch syndrome) http://www.bdid.com/digeorge.htm

HOME DiGeorge Sequence/Velocardiofacial Syndrome (Catch22; Hypoplasia Of Thymus and Parathyroids; Third and Fourth Pharyngeal Pouch Syndrome) DIGEORGE SYNDROME Emily has DiGeorge DiGeorge Anomaly Velo-Cardio-Facial Syndrome ... HOME

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