41. Health Library - Velo-Cardio-Facial Syndrome SEARCH. velocardio-facial syndrome. Founded 1996.Support and resource network forfamilies coping with velo-cardio-facial syndrome (aka Shprintzen syndrome). http://www.muskogeehealth.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29v

42. WebGuest - Open Directory Health Conditions And Diseases Top Health Conditions and Diseases Genetic Disorders velocardio-facial syndrome(5). See also Health Conditions and Diseases Rare Disorders (126). Sites http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

43. National Support Groups / Information Sites V VATERL. velocardio-facial syndrome velo-cardio-facial syndrome ResearchInstitute; velo-cardio-facial syndrome Educational Foundation. http://www.mostgene.org/support/u-v.htm

Directory of Online Genetic Support Groups U-V The inclusion of any resource or link in MoSt GeNe does not imply endorsement. They are provided for educational purposes only. As scientific findings and medicine are changing rapidly, we urge you to note the date of publication of all material you view. Please consult with your health care provider regarding how any information found on the Internet may apply to your own situation. - U - Ubiquinone-Cytochrome C Oxidoreductase Deficiency at UMDF National Urea Cycle Disorders Foundation Usher syndrome at the Foundation Fighting Blindness V VATERL Velo-Cardio-Facial Syndrome Velo-Cardio-Facial Syndrome Research Institute Velo-Cardio-Facial Syndrome Educational Foundation National Vitiligo Foundation Von Hippel Lindau Syndrome, (VHL) VHL Family Alliance To Top of Page Home

44. Pediatric Neuropsychological Studies At The Center For Cognitive Remember, any decision to participate should be made only after carefuldiscussion of the study with our staff. velocardio-facial syndrome http://ccm.psych.uic.edu/Research/Developmental/developmental.htm

45. The Morrow Lab Home Page Three congenital anomaly disorders termed cateye syndrome (CES), der(22) syndrome,and velo-cardio-facial syndrome (VCFS), are associated with tetrasomy http://www.aecom.yu.edu/morrow/

The Morrow Lab From left to right:(back) Jun Liao, Kate Koren, Birgit Funke, Bernice Morrow, Elizabeth Spiteri (front) Raj Pandita. Contents Research Interests Useful Links Recent Publications Contact Information Research Interests Chromosome 22 rearrangement disorders Three congenital anomaly disorders termed cat-eye syndrome (CES), der(22) syndrome, and Velo-cardio-facial syndrome (VCFS), are associated with tetrasomy, trisomy and monosomy of 22q11. VCFS is a congenital anomaly disorder associated with hemizygous 22q11 deletions. VCFS is characterized by craniofacial anomalies, heart defects and learning disabilities. It is likely that haploinsufficiency of a gene(s) in 22q11 is responsible for its etiology. To define the region deleted in VCFS patients, we developed a genetic and physical map of the region. Over 90% of the patients have a similar large 3 Mb deletion. Most of the remaining patients had a nested distal deletion breakpoint resulting in a 1.5 Mb deletion. A few rare patients had unique deletions. Over 20 genes from this interval have been isolated to date and mouse models are being developed. Equally as important as identifying the VCFS gene(s), is to determine the molecular basis of the 22q11 deletion. The fact that most VCFS patients have a similar deletion of 3 Mb in size, suggests that sequences at the chromosome breakpoints confer susceptibility to rearrangement. To determine the molecular basis of the common deletion, it is necessary to clone and sequence the deletion breakpoint junction. We found a tandem duplication of 200 kb that surrounds both the breakpoints. It is possible that the deletions are mediated by homologous recombination between the repeats.

46. Dr. Arthur I. Skoultchi development. velocardio-facial syndrome A new project in our lab concernsthe molecular basis of velo-cardio-facial syndrome (VCFS). VCFS http://www.aecom.yu.edu/home/sggd/faculty/skoultch.htm

DR. ARTHUR I. SKOULTCHI, Ph.D. Professor Department of Cell Biology Chanin Bldg, - Room 402 skoultch @aecom.yu.edu Our laboratory is interested in understanding the mechanisms controlling mammalian development and cell differentiation. Our approach is to investigate systems in which these processes are disrupted and lead to disease. Currently there are three major projects underway in the lab. Molecular Mechanism of Leukemogenesis: In one project we are trying to understand how erythroleukemias, tumors of the red blood cell lineage, arise and why these tumor cells are blocked from differentiating. We have traced the cause of the differentiation block in erythroleukemia to the activation of a transcription factor called PU.1 which is normally expressed only in white blood cells. We are trying to learn how activation of PU.1 causes the erythroleukemia cells to stop differentiating and start proliferating in an uncontrolled manner by: (1) studying the effect of PU.1 on other gene products, including Rb, cyclins, cyclin-dependent kinases (cdks) and cdk inhibitors that regulate cell proliferation, and (2) studying the effect of PU.1 on gene products required for promoting red blood cell differentiation. Role of Chromatin Structure in Gene Expression: Recent studies have made it clear that acetylation/deacetylation of core histones (H2A, H2B, H3

47. CHIN: Velocardiofacial Syndrome Written by Rosalie Goldberg, MS CGC Genetic Counselor Human Genetics Program,Family Core velocardio-facial syndrome Institute, Montefiore Medical Center http://www.tchin.org/resource_room/c_art_01.htm

Velocardiofacial Syndrome Written by: Rosalie Goldberg, M.S. C.G.C. Genetic Counselor Human Genetics Program, Family Core Velo-Cardio-Facial Syndrome Institute, Montefiore Medical Center, Albert Einstein College of Medicine Posted: May 9,1997 Velo-cardio-facial syndrome (VCFS) is a genetic condition commonly associated with cleft palate, cardiac malformations, severe speech problems and learning disabilities. VCFS, like many genetic disorders, may arise spontaneously as a new mutation, or may be inherited from an affected parent. The mutation causing VCFS is a deletion of genetic material on one of the two chromosome 22's. If the mutation is present in the parent, then that parent has a 50% chance of passing on the deletion to his or her children. This is called autosomal dominant inheritance. Ninety percent of patients with the 22q11.2 deletion have not inherited the deletion from either parent; in fact, the mutation is a new occurrence. We do not yet know how or why these spontaneous mutations occur. A laboratory test is available to look for 22q11 deletions. The test will be described below. The face of VCFS has a characteristic although not abnormal appearance. In a young child it is the nose and ears that direct the geneticist, cardiologist, otolaryngologist (ear doctor) or plastic surgeon to think of the syndrome. The diagnosis is suspected in newborns with a combination of congenital heart disease and cleft palate. Most often those youngsters have minor anomalies of the external ears as well as the heart and palate. Feeding problems with nasal regurgitation of milk are common. The most frequent heart problems seen in children with a deletion of chromosome 22q are interrupted aortic arch, truncus arteriosus, tetralogy of Fallot with pulmonary atresia, absent pulmonary valve syndrome, simple tetralogy of Fallot, conotruncal venticular septal defect and any congenital heart defect with absence of the thymus.

48. Look.com - The Search Engine Of Search Engines - velocardio-facial syndrome (5) See Also. SAIDA, A definition of Velo-Cardio-FacialSyndrome along with a support group in Johannesburg. http://www.look.com/searchroute/directorysearch.asp?p=551158

49. EnableNet - Enablenet.browse.browse Dis Multiple Disabilities velocardio-facial syndrome Velo-Cardio-FacialSyndrome Matching Resources. Records 1-2 of 2 http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=1958

50. 10 NEWS Health Facts - WTAJ-TV velocardio-facial syndrome. VCFS. VCFS (velo-cardio-facial syndrome) is a geneticcondition caused by the absence of a small part of chromosome 22. http://www.wtajtv.com/health/vcfs.html

HEALTH FACTS Helping You Learn More About Your Health Velo-Cardio-Facial Syndrome VCFS VCFS (Velo-Cardio-Facial Syndrome) is a genetic condition caused by the absence of a small part of chromosome 22. Although relatively unknown, it's one of the most common genetic disorders in humans. The Velo-Cardio-Facial Syndrome Educational Foundation estimates about one out of every 2000 people have it. The gene for VCFS can be passed from parent to child. If one parent has the defective gene, there is a 50 percent chance the child will also have it. But, only about 10 to 15 percent are believed to be inherited. In the remaining cases, the gene mutation occurs spontaneously or for an unknown reason. More than 180 different abnormalities are associated with VCFS. Researchers say most patients have 40 or more of the symptoms. Some of the most common include: cleft palate (complete or submucous cleft), heart abnormalities (such as ventricular or atrial septal defect), learning disabilities (such as problems with abstract reasoning and reading comprehension), speech/language problems (nasal speech and problems with articulation), and early feeding problems. People with VCFS also have a very characteristic facial appearance with an elongated face, almond-shaped eyes, small ears, and a wide nose. As adults, patients tend to have a higher frequency of psychiatric illnesses. A small number develop severe psychosis. Treating Patients With VCFS Currently, there's no cure for VCFS. Doctors are getting better at detecting the symptoms during infancy and referring patients to specialized centers. (Some adult cases are only detected when a child is diagnosed and the doctor discovers the parent also has symptoms.) Once the condition is diagnosed, a thorough examination is needed to detect possible abnormalities that can be corrected early in life (such as heart problems). Despite all the possible problems, doctors say it's possible for children with VCFS to live relatively normal lives.

51. Di George Syndrome Chat Rooms velocardio-facial syndrome (VCFS) and DiGeorge Chat Room.Mailing Lists velo-cardio-facial syndrome (VCFS) Digest This http://www.communicationdisorders.net/diGeorgesyndrome.html

diGeorge Syndrome Learn More About It DiGeorge Anomaly From PEDBASE DiGeorge Syndrome From Online Mendelian Inheritance in Man (OMIM) DiGeorge Syndrome Region Cloned From Human Genome News Researchers Release Map of Gene-Rich Chromosome 22 From the National Human Genome Research Institute (NHGRI) Web Sites Chat Rooms Velo-Cardio-Facial Syndrome (VCFS) and DiGeorge Chat Room Mailing Lists Velo-Cardio-Facial Syndrome (VCFS) Digest This is a discussion forum for those interested in Velo-Cardio-Facial Syndrome and DiGeorge Syndrome. To join send an e-mail message to: listserv@maelstrom.stjohns.edu In the body of the message type: Subscribe VCFS Your Name *Available in digest form HOME

52. CSH/Sjældne Handicap/Kromosom 22q11 Deletion Syndrom / Catch 22/Mere Viden The velocardio-facial syndrome Information Page er en omfattende hjemmeside omVCFS for fagfolk og familier berørt af VCFS; der er links til artikler, til http://www.csh.dk/sjaeldne_handicap/Kromosom22q11/mereviden.html

Udgivet 1. gang april 2000 Denne side er opdateret 29.01.2002 Kromosom 22q11 deletion syndrom: [Indholdsfortegnelse] [Forrige] Mere viden og vejledning Kontakt til andre: Center for Små Handicapgruppers kontaktordning er et tilbud til mennesker med sjældne sygdomme og handicap, som ikke har en forening eller andet netværk i Danmark at henvende sig til. Via kontaktordningen tilbyder vi at formidle kontakt mellem personer eller familier, der lever med samme sjældne handicap. Der findes kontaktperson(er) for Kromosom 22q11 deletion syndrom. Hvis du ønsker kontakten, kan du kontakte os via formularen eller ringe til os på tlf.: 3391 4020. Andre foreninger Immun-Defekt Foreningen c/o Jan Simonsen Østervangsvej 7, Vivild 8661 Allingåbro Web-site: http://www.idf.dk Formand: Sven Fandrup Avenue Manoir D'Anjou 56 B-1150 Bruxelles Belgien Hjerteforeningens Børneklub Klokkelyngen 26 8800 Viborg Tlf.: 86 67 62 01 Her kan du også få oplysninger om lokal-foreninger Landsforeningen Læbe-Ganespalte (LLG) Dorte Nielsen (formand) Havrebakken 5, Grejs

53. DiGeorge Sequence/Velocardiofacial Syndrome Parathyroids; Third and Fourth Pharyngeal Pouch Syndrome). DIGEORGE SYNDROME;Emily has DiGeorge; DiGeorge Anomaly; velocardio-facial 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

54. Nature Publishing Group: Error Page Article. Atypical deletions suggest five 22q11.2 critical regions relatedto the DiGeorge/velocardio-facial syndrome. Francesca Amati http://www.nature.com/doifinder/10.1038/5200399

ERROR The DOI Handle you have entered is invalid. Please check the Handle and try again. For information on the Digital Object Identifier Handle, please visit the website of the DOI Foundation, at www.doi.org In order to contact Customer Services please click here

55. VCFS And DiGeorge Links a newsletter for families and patients with the 22q11.2 microdeletion, the deletionwhich causes DiGeorge Syndrome, velocardio-facial syndrome (VCFS), and http://www.easystreet.com/~paulag/vcfs.html

Velo-Cardio-Facial and DiGeorge Syndrome Links VCFS , an email list for individuals, professionals, and family members with individuals with VCFS or DiGeorge Syndrome (22q11.2 deletion). Explore and search the archives . Researchers and professionals are also invited to participate. To subscribe, go fill out the form 22q and You , a newsletter for families and patients with the 22q11.2 microdeletion, the deletion which causes DiGeorge Syndrome, Velo-Cardio-Facial Syndrome (VCFS), and some cases of Opitz G/BBB Syndrome. A very nice, comprehensive chromosome 22 site Chromosome 22 Central has information on many chromosome 22 disorders and a great list of links. The Velo-Cardio-Facial Syndrome Educational Foundation Site , which has an e-mail link to Dr. Shprintzen in Syracuse! Another good site from England and Wales about VCFS, DiGeorge Syndrome, and the 22q11 deletion. This is the VCFS Foundation Site in Australia , who in the Fall of 2002 hosted a conference and fundraiser ball! The Family Village VCFS Page The Family Village DiGeorge Syndrome Page Velo-Cardio-Facial Syndrome Research Insitute with a mail link to Rosalie Goldberg.

56. CoGENT - Neurogenetic And Neurodevelopmental Disorder Definitions disorders currently under investigation are Fragile X syndrome, Turner's Syndrome,William's syndrome, velocardio-facial syndrome, Autism, and ADHD. http://cogent.stanford.edu/neuro.html

Neurogenetic and neurodevelopmental disorders The neurogenetic and neurodevelopmental disorders currently under investigation are Fragile X syndrome Turner's Syndrome William's syndrome Velo-Cardio-Facial Syndrome ... Autism , and ADHD Fragile X Fragile X syndrome is a common hereditary cause of mental retardation and learning disability. Both males and females can be affected by Fragile X syndrome, although females often have milder effects. Males with Fragile X syndrome usually have mental retardation, and may have some autistic-like behaviors. Females with Fragile X syndrome may have mental retardation or learning disabilities, social difficulties, and anxiety. (Source: Department of Brain Imaging, Stanford University) Turner's Syndrome Turner syndrome is a genetic disorder that occurs only in females and arises from partial or complete absence of the X chromosome. Turner syndrome occurs in about 1 in 2500 female births. Physical manifestations of this syndrome include some of the following: gonadal dysgenesis, lack of pubertal maturation, infertility, short stature, shield chest, webbing of the neck, coarctation of the aorta, and horseshoe kidney. The neurocognitive profile of females with Turner syndrome includes: preserved verbal skills as well as specific deficits in visuo-spatial tasks, visual memory, and arithmetic. (Source: Department of Brain Imaging, Stanford University)

57. Listings Of The World Health Conditions And Diseases Genetic Top Health Conditions and Diseases Genetic Disorders VeloCardio-FacialSyndrome. VCFS humans. velo-cardio-facial syndrome is More. http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Velo-C

58. The Scientist :: Gene For DiGeorge Syndrome DiGeorge syndrome (DGS; also known as velocardio-facial syndrome) is associatedwith hemizygous deletion of a region of human chromosome 22q11, causing a 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

59. Canadian Journal Of Psychiatry - Genetic Insights Into Schizophrenia - March 200 velocardio-facial syndrome Frequency and extent of 22q11 deletions. Highrates of schizophrenia in adults with velo-cardio-facial syndrome. http://www.cpa-apc.org/Publications/Archives/CJP/2001/Mar/Genetic7.asp

March 2001 Genetic Insights into Schizophrenia Acknowledgements 41. Straub RE, MacLean CJ, O’Neill FA, Burke J, Murphy B, Duke F, and others. A potential vulnerability locus for schizophrenia on chromosome 6p24-22: Evidence for genetic heterogeneity. Nat Genet 1995;11:287–93. 42. Kendler KS, MacLean CJ, O’Neill FA, Burke J, Murphy B, Duke F, and others. Evidence for a schizophrenia vulnerability locus on chromosome 8p in the Irish study of high-density schizophrenia families. Am J Psychiatry 1996;153:1534–40. 43. Straub RE, MacLean CJ, O’Neill FA, Walsh D, Kendler KS. Support for a possible schizophrenia vulnerability locus in region 5q22-31 in Irish families. Mol Psychiatry 1997;2:148–55. 44. Straub RE, MacLean CJ, Martin RB, Ma Y, Myakishev MV, Harris-Kerr C, and others. A schizophrenia locus may be located in region 10p15-p11. Am J Med Genet 1998;81:296–301. 45. Lindsay EA, Goldberg R, Jurecic V, Morrow B, Carlson C, Kucherlapati RS, and others. Velo-cardio-facial syndrome: Frequency and extent of 22q11 deletions. Am J Med Genet 1995;57:514–22. 46. Murphy KC, Jones AL, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 1999;56:940–5.

60. Canadian Journal Of Psychiatry - In Review - March 2001 67. Murphy KC, Jones AL, Owen MJ. High rates of schizophrenia in adults withvelocardio-facial syndrome. Arch Gen Psychiatry 1999;56940–5. 68. http://www.cpa-apc.org/Publications/Archives/CJP/2001/Mar/Inreview8.asp

March 2001 Genetic Counselling for Schizophrenia in the Era of Molecular Genetics 66. Bassett AS, Chow EWC, Scutt L, Hodgkinson K, Weksberg R. Psychiatric phenotype of a genetic subtype of schizophrenia. Schizophr Res 1999;36:87. 67. Murphy KC, Jones AL, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 1999;56:940–5. 68. Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolyniec PS, and others. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis 1994;182:476–8. 69. Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, and others. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci U S A 1995;92:7612–6. 70. Chen C-H, Lee Y-R, Chung M-Y, Wei F-C, Koong F-J, Shaw C-K, and others. Systematic mutation analysis of the catechol O-Methyltransferase gene as a candidate gene for schizophrenia. Am J Psychiatry 1999;156:1273–5. 71. Papolos DF, Faedda GL, Veit S, Goldberg R, Morrow B, Kucherlapati R, and others. Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry 1996;153:1541–7.

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