81. DiGeorge/Velocardiofacial Syndrome/congenital Heart Defect - HUM-MOLGEN DiGeorge/Velocardiofacial syndrome/congenital heart defect from patients with a clinical diagnosis of probable DiGeorge/velocardiofacial syndrome but no http://hum-molgen.org/bb/Forum2/HTML/000027.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) DiGeorge/Velocardiofacial Syndrome/congenital heart defect profile register preferences faq ... next oldest topic Author Topic: DiGeorge/Velocardiofacial Syndrome/congenital heart defect Administrator Administrator posted 03-31-2000 03:35 PM Call for Patients: DiGeorge/VCFS without Chromosome 22q11 Deletion We are interested in DNA samples from patients with a clinical diagnosis of probable DiGeorge/velocardiofacial syndrome but no deletion at 22q11 for our on going point mutation screening programme. Patients with congenital heart defects seen in DGS/VCFS will also be welcomed. It would be helpful, but not essential, if parental samples were also available. Contact person: Prof. Peter Scambler, Room 211, Molecular Medicine Unit, Institute of Child Health, 30 Guilford St., LONDON WC1N 1EH UK Tel 44 207 905 2635 Fax 44 207 831 0488 (or 404 6191) email p.scambler@ich.ucl.ac.uk pscamble@hgmp.mrc.ac.uk http://www.ich.ucl.ac.uk/units/unitdes.html IP: 160.45.191.21 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications

82. Investigation Of White Matter Structure In Velocardiofacial OBJECTIVE Velocardiofacial syndrome, caused by a deletion on chromosome 22q11.2, Velocardiofacial syndrome is also known to affect brain structure. http://ajp.psychiatryonline.org/cgi/content/abstract/160/10/1863

83. Velocardiofacial Syndrome Are Structural Changes In The Temporal OBJECTIVE Velocardiofacial syndrome results from a microdeletion on chromosome In a crosssectional analysis, children with velocardiofacial syndrome http://ajp.psychiatryonline.org/cgi/content/abstract/158/3/447

84. Editorial Variable Clinical Phenotypes of Velocardiofacial syndrome in a Pair of Brothers Typical facial findings in Case 1 with velocardiofacial syndrome. http://www.indianpediatrics.net/march-315-319.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2000;37: 315-319 Variable Clinical Phenotypes of Velocardiofacial Syndrome in a Pair of Brothers Munni Ray Pratibha Singhi Prabhjyot Malhi Anil Bhalla From the Division of Pediatric Neurology, Department of Pediatrics, Advanced Peditric Center, Post Graduate Institute of Medical Education and Research, Chandigarh 160 012, India. Reprint requests: Dr. Pratibha D. Singhi, Additional Professor, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh 160 012, India. Manuscript Received: April 13, 1999; Initial review completed: May 18, 1999; Revision Accepted: August 30, 1999 Velocardiofacial syndrome (VCFS) is a genetic disorder with an estimated frequency of 1 in 4000 live births(1). This disorder is characterized by cardiac defects, cleft palate, learning disabilities and mild facial dysmor-phology(2). The identification of these patients is difficult because it is a multisystem syndrome with numerous anomalies, many of which are considered minor and found in general population(3). The enormous variability of this condition is seen by the different clinical features which are present in the affected members of the same family(4,5). There is a paucity of documentation on this subject in Indian literature. Hence we report a pair of siblings born to nonconsanguineous parents who had variable clinical phenotype.

85. Arch Gen Psychiatry -- Abstract: Brain Anatomy In Adults With Velocardiofacial S Both velocardiofacial syndrome groups had a reduced cerebellar volume compared with controls. Conclusions Within velocardiofacial syndrome, schizophrenia is http://archpsyc.ama-assn.org/cgi/content/abstract/61/11/1085

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 61 No. 11, November 2004 Featured Link E-mail Alerts Original Article Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by van Amelsvoort T Murphy DG Contact me when this article is cited Topic Collections Magnetic Resonance Imaging Schizophrenia Topic Collection Alerts Brain Anatomy in Adults With Velocardiofacial Syndrome With and Without Schizophrenia Preliminary Results of a Structural Magnetic Resonance Imaging Study Therese van Amelsvoort, MD, PhD, MRCPsych Eileen Daly, BSc Jayne Henry, DPsych Dene Robertson, MD, MRCPsych, MRCGP Virginia Ng, MD, MRCP Michael Owen, MD, PhD, FRCPsych Kieran C. Murphy, MD, PhD, MRCPsych

86. Velocardiofacial Syndrome Synonyms, Eastern Carolina Velocardiofacial syndrome Synonyms University Health Systems of Eastern Carolina serves tarboro, ahoskie, edento, winsor, maxhead, dear county, http://www.uhseast.com/114559.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Velocardiofacial Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Velocardiofacial 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. Synonyms Shprintzen Syndrome Conotruncal Anomaly Face Syndrome Craniofacial Syndrome Disorder Subdivisions None General Discussion Velocardiofacial syndrome, (VCFS), a rare genetic disorder, is characterized by abnormalities of the head and facial (craniofacial) area, heart defects that are present at birth (congenital heart defects), diminished muscle tone (hyptonia), mild small stature, slight delays in the acquisition of skills requiring the coordination of mental and muscular activities (psychomotor retardation), and/or learning disabilities. The syndrome is associated with many different features, and not all will be present in every case. Cleft palate (an opening in the roof of the mouth) and characteristic facial features are among the most common features found with this syndrome.

87. Velocardiofacial Syndrome Velocardiofacial syndrome. Shprintzen VCF syndrome. VCF syndrome Variable clinical phenotypes of velocardiofacial syndrome in a pair of brothers http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=307

88. E-Doc INTERACTIVE - Review - Velocardiofacial Syndrome Case Report: Is This A Ho In this case study a diagnosis of velocardiofacial syndrome was made on clinical As approximately 10% of individuals with velocardiofacial syndrome http://www.e-doc.co.za/modules.php?name=News&file=article&sid=274

89. Phenomics: Evaluating The Phenotype In The Context Of Molecular Diagnosis Molecular Basis for DiGeorge/Velo Cardio Facial syndrome. Dr. Raju Kucherlapati, Paul C. Cabot Professor of Genetics and Professor of Medicine, http://www.uofa-medical-genetics.org/news/article.php?article=64

90. MGZ Munich --- Velocardiofacial Syndrome Velocardiofacial syndrome (VCFS, Shrpintzen syndrome). Clinical Features. The indications are similar to those of DiGeorge syndrome. http://www.mgz-muenchen.de/english/vcfs.html

MGZ - Munich - Analyses About us Analyses Who is who Contacts ... Address Velocardiofacial Syndrome (VCFS, Shrpintzen Syndrome) Clinical Features The indications are similar to those of DiGeorge syndrome. T-cell defects are not prominent, but have been described. Other features are cleft or raised palate with separated uvula, heart defects (ventriclular septal defect), retardation of speech development with learning difficulties and behavioural disturbances, facial dysmophia (small palpebral fissure, bulbous nose, hypocalcaemia, arrhinocephaly, renal aplasia and skeletal malformations. Genetics VCFS is caused by a microdeletion in the long arm of Chromosome 22 (22q11.2), and leads to a partial monosomy which is demonstrable in approximately 70% of the patients. As with other microdeletion syndromes only isolated cases occur although families do exist with several affected members. The inheritance pattern shows dominant inheritance with varying degrees of expression. Frequency VCFS 1:10.000 to 1:20.000 Partial monosomy 22q11.2 1:5000

91. Velocardiofacial Syndrome - Evaluation, Treatment And Research At The National I The National Institute of Mental Health is actively seeking patients with Velocardiofacial syndrome to receive free evaluation and/or treatment in our http://patientinfo.nimh.nih.gov/VelocardiofacialSyndrome.aspx

Home Contact Us Enter Search Patient Recruitment - Velocardiofacial Syndrome NIMH Home Intramural Research Patient Recruitment Research Studies Velocardiofacial syndrome (VCFS) and the Brain Velocardiofacial Syndrome (VCFS) Research Study Velocardiofacial syndrome (VCFS) and the Brain Small deletion syndromes are caused by the loss of a stretch of genes from one of the two chromosomes they are located on during germ cell development. They offer a unique opportunity to study how relatively pronounced changes in the effects of relatively few genes lead to disturbances in brain function. The most common such condition, Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, has been associated with many features such as a cleft palate, heart defects, and learning, speech and feeding problems. It is caused by the absence of a number of genes on chromosome 22. We are recruiting participants with 22q11.2 syndrome to come to our main campus in Bethesda, MD, to participate in a study in which we will investigate the genetic makeup of their cells together with several studies of brain function with advanced research imaging. The goal of this study is to understand how the genes missing in 22q11.2 syndrome are related to the increased occurrence of psychiatric problems, such as psychosis. Participants must be 18-50 years of age, have some high school education and not currently be taking antipsychotic medication. Travel costs to Bethesda for participants and an accompanying person will be paid, and participants are reimbursed for their time in participating in the study. A blood draw is required. All research procedures have been designated as "minimal risk" procedures.

92. Comparative Sequence Analysis In The Velocardiofacial Syndrome Region Sequencing of the Velocardiofacial syndrome region and the corresponding mouse Sequencing in the DiGeorge/Velocardiofacial syndrome region on human Chr http://inertia.bs.jhmi.edu/CGAT/Mouse_seq_analysis.html

Comparative Sequence Analysis in the Velocardiofacial Syndrome Region Web supplement for "Comparative Sequence Analysis of 634 kb of the Mouse Chromsome 16 Region of Conserved Synteny with the Human Velocardiofacial Region on Chr 22q11.2" James Lund, Feng Chen, Axin Hua, Bruce Roe, Marcia Budarf, Beverely S. Emanuel, and Roger H. Reeves. submitted to Genomics. Sequencing of the Velocardiofacial syndrome region and the corresponding mouse region Sequencing in the DiGeorge/Velocardiofacial Syndrome region on human Chr 22q11.2 has generated 1.4 Mb of contiguous genomic sequence in the genetically defined critical region. Several additional human BAC and PAC clones from the larger commonly deleted region have also been sequenced. Mouse BAC and PAC clones forming a minimal tiling path across the region corresponding to the critical region in mouse are being sequenced. Sequencing is being performed at the University of Oklahoma Genome Center Mouse Chr 16/Human Chr 22q11.2 sequencing progress Mouse sequence contig analysis summary Contig 1: 98d3, 40o20, and 581i11 (rc)

93. Faculty Of 1000 Biology | Mice Deleted For The DiGeorge/velocardiofacial Syndrom Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. Paylor R, McIlwain KL, http://www.facultyof1000.com/article/11726551/evaluation

Subscription Info Institutional Access Free Trial F1000 walkthrough ... About F1000 Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. Paylor R, McIlwain KL, ..., Baldini A, Lindsay EA Hum Mol Genet 2001 Nov 1 "A potentially important paper demonstrating that mice with a chromosomally..." Evaluated by Faculty of 1000 Biology member Peter Scambler (Institute of Child Health, United Kingdom) To see the full evaluation, choose from the options below: Faculty of 1000 Biology Essential, rapid post-publication evaluation of the most important papers in biology by over 1900 of the world's top scientists [see a sample evaluation You can: Customize the site and receive tailored e-mail alerts [ more "This is really going to help busy scientists find the gems amongst the mounds of rubble!" Keith Roberts (John Innes Centre, UK) Personal access Existing subscribers Log in here E-mail Password Free 7 day trial Subscribe Institutional access Recommend to your librarian 80% of the world's top institutions subscribe!

94. Velocardiofacial Syndrome velocardiofacial syndrome. See for. VCFS. Broader Terms. chromosome disorder. Broader Terms. syndrome. Related Terms. autosomal dominant trait http://crisp.cit.nih.gov/Thesaurus/00008764.htm

Prev Term: vein occlusion Next Term: vena cava velocardiofacial syndrome See for: VCFS Broader Terms: chromosome disorder Broader Terms: syndrome Related Terms: autosomal dominant trait Related Terms: congenital heart disorder Related Terms: congenital oral /facial /cranial defect Scope Note: caused by microdeletion on chromosome 22q11.2; associated with multiple congenital anomalies, learning disabilities, behavioral phenotypes including ADHD and anxiety, with schizophrenic risk in adulthood. Term Number: Send your comments to: Melody Lowe

95. Untitled Velocardiofacial syndrome Medicine termsHealth and medicine terms and glossary - detailed Information on Velocardiofacial syndrome. http://www.nih.gov/nidcd/health/pubs_vsl/velocario.htm

Welcome to the NIDCD web site. We have moved, so update your bookmarks with our new address: www.nidcd.nih.gov After 10 seconds, you will automatically be forwarded to the NIDCD web site.

96. NIDCD - Page Has Been Moved We ve updated the NIDCD site.The page you have requested has been moved. Please update your bookmarks or links to the new URL, which is http://www.nidcd.nih.gov/health/pubs_vsl/velocario.htm

Change text size: S M L We've updated the NIDCD site.The page you have requested has been moved. Please update your bookmarks or links to the new URL, which is: http://www.nidcd.nih.gov/health/voice/velocario.asp You will be redirected to that page in 10 seconds. National Institute on Deafness and Other Communication Disorders National Institutes of Health 31 Center Drive, MSC 2320 Bethesda, MD USA 20892-2320 E-mail: nidcdinfo@nidcd.nih.gov

97. VCFS This page is no longer supported. Please go to one of the other VCFS support pages such as www.vcfs.net, www.snonet.org/vcfs/ or www.vcfsef.org. http://www.crosslink.net/~marchett/vcfs/vcfs.shtml

This page is no longer supported. Please go to one of the other VCFS support pages such as www.vcfs.net www.snonet.org/vcfs/ or www.vcfsef.org

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