61. Velo-Cardio-Facial Syndrome Website Results :: Linkspider UK velocardio-facial syndrome Websites from Linkspider UK. Keyword Velo-Cardio-FacialSyndrome. Linkspider UK Directory velo-cardio-facial syndrome Search for. http://www.linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Velo-C

Velo-Cardio-Facial Syndrome Websites from Linkspider UK Keyword: Velo-Cardio-Facial Syndrome Linkspider UK Directory Velo-Cardio-Facial Syndrome Search for Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Velo-Cardio-Facial Syndrome (5) Add URL Advertise Here! Personalize Amazon ... Weather See Also: Health: Conditions and Diseases: Rare Disorders Velo-Cardio-Facial Syndrome Educational Foundation - Details about this organization as well as an extensive fact sheet about the disease. Includes details about support groups, a mission statement and contact information. Velo-Cardio-Facial Syndrome (VCFS) - Overview of VCFS describing condition, causes and red flags. Provides contacts for more information and treatment. By the Center for the Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome, SUNY Upstate Medical University (USA). NORD - Velocardiofacial Syndrome - A list of the synonyms, a general discussion and further resources. SAIDA,

62. MOLECULAR GENETICS FACULTY Three congenital anomaly disorders, cateye syndrome (CES), der(22) syndrome, andvelo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with http://sequence.aecom.yu.edu/molgen/faculty/morrow.html

DR. BERNICE E. MORROW Ullman 1211 (718)-430-4274 morrow@aecom.yu.edu Human Molecular Genetics 1) Molecular Cytogenetics. The chromosome 22q11 region is susceptible to rearrangements that are associated with congenital anomaly disorders and malignant tumors. Three congenital anomaly disorders, cat-eye syndrome (CES), der(22) syndrome, and velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) are associated with tetrasomy, trisomy or monosomy, respectively, for part of chromosome 22q11. To determine the molecular basis of 22q11 rearrangements we have taken a genome based approach. We found that the chromosome breakpoints occur by homologous recombination events within duplicated sequences termed LCR22s (Funke et al., 1999; Edelmann et al., 1999 a, b). We identified five additional copies of the LCR22 on 22q11 that may mediate other rearrangements on chromosome 22q11 leading to disease. 2) Molecular basis of congenital anomaly disorders. Altered gene dosage is responsible for the etiology of the disorders described above. One goal in the laboratory is to identify genes on chromosome 22q11 whose function is sensitive to altered dosage. To identify such genes, we are participating in a multi-laboratory program at AECOM to generate mouse models. Our role is to examine the role of increased gene dosage in the etiology of congenital anomalies. Understanding the basis of the anomalies generated in mouse models will provide new insights into normal and abnormal embryonic development.

63. MIND Institute Grants Awarded Pathogenesis of Pediatric Neurodevelopmental Disorders Behavioral NeurogeneticsInvestigation of Turner Syndrome and velocardio-facial syndrome Team Leader http://mindinstitute.ucdmc.ucdavis.edu/research/1999-2000/abstract_reiss.htm

64. Resources - Page 2 and lay people whose purpose is to educate the public, the scientific community,families of individuals with velocardio-facial syndrome, and individuals with http://members.tripod.com/~sandygo/resources2.html

RESOURCES... EMPLOYMENT - GENERAL DISABILITY-RELATED SITES EMPLOYMENT ADA EMPLOYMENT FACT SHEET/PROJECT ABLE - contains a wealth of information for the job seeker, not only on ADA but also on a wide variety of other topics - online job fair information, colleges, etc. Web site is easy to follow and written in plain English.  ALTERNATIVE WORK CONCEPTS is an Oregon-based nonprofit organization that has developed several resources related to employing individual with disabilities. A summary of their various resources (manuals, video, etc.) is provided. CAREERS FOR SCIENTISTS WITH DISABILITIES is an article contained in an online science magazine, detailing some of the difficulties experienced by scientists who also have disabilities. This would be good information for an individual considering a career in a science-related field. Percentages of individuals with disabilities who are already in science-related careers are listed. CAREER IN WEBSITE DEVELOPMENT Ever wondered how "the Pro's" got into website development? Want to get an 'inside track' on this fast-paced opportunity? The MAKE NO WASTE! MAKE HASTE! and learn how I, Sandy, have become wealthy in making websites! (If you beliebe THIS, I have some ocean front property available for you in Arizona........)

65. Cell Bio @ Einstein: Arthur Skoultchi, Ph.D. velocardio-facial syndrome A new project in our lab concerns the molecularbasis of velo-cardio-facial syndrome (VCFS). VCFS occurs http://cellbio.aecom.yu.edu/skoultchi.htm

Arthur Skoultchi, PhD Department of Cell Biology Chanin Bldg., Room 402 skoultch@aecom.yu.edu Biosketch Complete list of publications Research interests 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 Role of Chromatin Structure in Gene Expression Velo-Cardio-Facial Syndrome: Recent publications Zhu L, Skoultchi AI. (2001) Coordinating cell proliferation and differentiation. Curr Opin Genet Dev 2001 Feb;11(1):91-7 Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R. (2001) TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 2001 Feb 23;104(4):619-29

66. 1895: High Rates Of Schizophrenia In Velo-cardio-facial Syndrome. Program Nr 1895 High rates of schizophrenia in velocardio-facialsyndrome. KC Murphy 1,2 , LA Jones 1 , MJ Owen 1 . 1) Department http://www.faseb.org/genetics/ashg99/f1895.htm

Program Nr: 1895 High rates of schizophrenia in velo-cardio-facial syndrome. K.C. Murphy , L.A. Jones , M.J. Owen 1) Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK; 2) Department of Psychological Medicine, Institute of Psychiatry, King's College, London, UK.

67. 227: Generating A Mouse Model For Velo-Cardio-Facial Syndrome (VCFS). Generating a mouse model for velocardio-facial syndrome (VCFS). RS Kucherlapati,S. Merscher, A. Puech, H. Sirotkin, B. Saint-Jore, A. Skoultchi. http://www.faseb.org/genetics/ashg99/f227.htm

Program Nr: 227 Generating a mouse model for Velo-Cardio-Facial Syndrome (VCFS). R.S. Kucherlapati, S. Merscher, A. Puech, H. Sirotkin, B. Saint-Jore, A. Skoultchi. Dept Molecular Genetics, Albert Einstein Col Medicine, Bronx, NY.

68. Ms. Alison Purcell Cleft palate and craniofacial abnormalities velocardio-facial syndrome Geneticdisorders Cochlear implants in children Deafness and hearing impairment in http://www2.fhs.usyd.edu.au/csd/alison_purcell.htm

Communication Sciences and Disorders A School of The University of Sydney [ Home ] [ Site Map ] [ Contact Us ] Alison Purcell BAppSc, MAppSc Cumb. Lecturer Phone: 9351 9335 E-mail: a.purcell@fhs.usyd.edu.au Recent Areas of Teaching: Craniofacial Anomalies; Audiological Management for Children with Hearing Impairments; Professional Development Areas of Interest: Cleft palate and craniofacial abnormalities Velo-cardio-facial syndrome Genetic disorders Cochlear implants in children Deafness and hearing impairment in children Current areas of research: Speech outcomes for children born with bilateral cleft palate Consonant cluster development in children born with unilateral cleft palate Resonance and phonation characteristics in children diagnosed with velo-cardio-facial syndrome Speech outcomes for children diagnosed with velo-cardio-facial syndrome Pre-linguistic communicative intention and vocalisation/speech development of infants with a profound hearing loss pre and post cochlear implantation Psycho-social issues confronting parents who receive a prenatal diagnosis of disability for their unborn child Return to Staff Page Back to SiteMap

69. GGRC - Medical Care Information 11,800 births (The velocardio-facial syndrome Educational Foundation). Thevelo-cardio-facial syndrome a clinical and genetic analysis. http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=5167

70. Canadian Directory Of Genetic Support Groups Syndrome V vertebral; A- anal; C- cardiac; T- tracheal; E- esophageal; R- renal;L- limb) velo-cardio-facial syndrome Educational Foundation, Inc (Velo-Cardio http://www.lhsc.on.ca/programs/medgenet/v_sup.htm

Index by support group Canadian Directory of Genetic Support Groups (The) VATER Connection (VATER/VACTERL Syndrome: V- vertebral; A- anal; C- cardiac; T- tracheal; E- esophageal; R- renal; L- limb) Velo-Cardio-Facial Syndrome Educational Foundation, Inc (Velo-Cardio-Facial Syndrome, DiGeorge Syndrome, Shprintzen Syndrome, 22q11.2 Deletions) Vestibular Disorders Association (VEDA) AcousticNeuroma, Benign Paroxysmal Positional Vertigo (BPPV), EndolymphaticHydrops, Labyrinthitis and Neuronitis Mal de Debarquement Syndrome, Meniere's Disease, Ototoxicity, Perilymph Fistula VHL (Von Hippel-Lindau) Family Alliance (Von Hippel-Lindau Syndrome Page revised:February 20, 2003 Maintained by: Janice Little Index by disease/ disorder Return to Programs and Services Questions? Comments? Contact

71. Medicalseek - Search Engine For The Healthcare Industry Conditions and DiseasesGenetic Disordersvelocardio-facial syndrome NORD - VelocardiofacialSyndrome A list of the synonyms, a general discussion and further http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Velo_Cardio

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Genetic Disorders Velo-Cardio-Facial Syndrome Conditions and Diseases:Genetic Disorders:Velo-Cardio-Facial Syndrome NORD - Velocardiofacial Syndrome A list of the synonyms, a general discussion and further resources. stepstn.com/cgi-win/nord.exe?proc=GetDo... SAIDA, A definition of Velo-Cardio-Facial Syndrome along with a support group in Johannesburg. sunsite.wits.ac.za/saida/disorder/vcfs.html... Velo-Cardio-Facial Syndrome (VCFS) Overview of VCFS describing condition, causes and red flags. Provides contacts for more information and treatment. By the Center for the Diagnosis, Treatment and Study of Velo-Cardio-Facial Syndrome, SUNY Upstate Medical University (USA). upstate.edu/ent/velo.shtml Velo-Cardio-Facial Syndrome Educational Foundation Details about this organization as well as an extensive fact sheet about the disease. Includes details about support groups, a mission statement and contact information. vcfsef.org/ Yahoo! Groups: VCFS Family Support Join, post and read mail for this group which concerns DiGeorge Syndrome and Velo-Cardio-Facial Syndrome. groups.yahoo.com/group/vcfsfamilysupport/

72. Development And Neurobiology Genetics Of Childhood Disorders Web Sites of Interest velocardio-facial syndrome Educational Foundation http//www.vcfsef.orgGeneClinics 22q11 Deletion Syndrome http//www.geneclinics.org http://info.med.yale.edu/chldstdy/plomdevelop/genetics/01aprgen.htm

73. Neuropsychological, Learning And Psychosocial Profile Of Primary School Aged Chi Neuropsychological, Learning and Psychosocial Profile of Primary School Aged Childrenwith the velocardio-facial syndrome (22q11 Deletion) Evidence for a http://www.szp.swets.nl/szp/journals/cn054230.htm

Child Neuropsychology 1999, Vol.5, No.4, pp. 230-241 Neuropsychological, Learning and Psychosocial Profile of Primary School Aged Children with the Velo-Cardio-Facial Syndrome (22q11 Deletion): Evidence for a Nonverbal Learning Disability? Ann Swillen , Leen Vandeputte , Joris Cracco , Bea Maes , Pol Ghesquière , Koen Devriendt and Jean-Pierre Fryns University Hospital Gasthuisberg, Center for Human Genetics Leuven, Leuven, Belgium Revalidatiecentrum ``De Klinker'', Knokke-Heist, Belgium University of Leuven, Department of Educational Sciences, Leuven, Belgium

74. HUGO: Chromosome 22: Support Groups the Listserve The VeloCardio-Facial Foundation of Australia Australian Support GroupUNIQUE Rare Chromosome Disorder Support Group velo-cardio-facial syndrome http://gdbwww.gdb.org/hugo/chr22/supportGroups.html

Support Groups 22q and You 22q11.2 deletion newsletter Canadian Organization for Rare Disorders (CORD) Chromosome Deletion Outreach Genetic/Rare Condition Support Groups International 11;22 translocation Network Chromosome 22 Central MUMS Parent to Parent Network R22 List: A family discussion for parents and friends The 22q11 group UK Support Group The VCFS and DGS List Archives of the Listserve The Velo-Cardio-Facial Foundation of Australia Australian Support Group UNIQUE Rare Chromosome Disorder Support Group Velo-Cardio-Facial Syndrome Return to HUGO: Chromosome 22

75. ChaserNews - Volume III Contents process and protocol for interested CHASER families/patients velocardio-facialrelated research by The velo-cardio-facial syndrome Institute at http://www.csun.edu/~hcmth011/chaser/volume3.html

ChaserNews - Volume III Contents Volume III, Issue II (Winter 1995-96); 16 pgs Down on the Farm...A Day of Celebration by James H. Myers (narrative/personal account of the University of Michigan's Hypoplastic Left Heart Syndrome Celebration Sep. 1995) Research...for interested parents Robert J. Shprintzen, Ph.D. (article explaining diagnostic screening process and protocol for interested CHASER families/patients velo-cardio-facial related research by The Velo-Cardio-Facial Syndrome Institute at Montefiore Medical Center and the Albert Einstein College of Medicine) How to Network via CHASER Little Moments (brief stories of serious, funny, or just plain "little moments" in our livessent in by CHASER News readers) Tree of Hearts (photos of children with congenital heart disease - national CHD awareness campaign) Volume III, Issue I (Fall, 1995); 16 pgs CHASER's Pediatric Heart Surgeon Directory (Brief description of CHASER's developing of the first Pediatric Heart Surgeon Directory) Shprintzen? DiGeorge? Velo-cardio-facial? (CHASER News Exclusive/Informative) by Robert J. Shprintzen, Ph.D.

76. Learning Disorder / Learning Disabilities / Dyslexia The behavioural phenotype in velocardio-facial syndrome (VCFS)from infancy to adolescence. Genetic Counseling, 10(1), 79-88. http://www.psy.kuleuven.ac.be/ortho/Onderzoek/learningdisorder.html

77. Signes Et Symptomes Du Syndrome Velo-cardio-facial Translate this page Signes et symptômes du syndrome velo-cardio-facial http://www.connect22.ch/Pages/SignesSymptomes.html

Télécharger ce document au format ".pdf" Dr Stephan Eliez eliez@hcuge.ch Yeux Oreilles Nez ... Endocrinologie 1. Fente palatine ouverte ou sous-muqueuse 8. Profil droit 10. Petites dents 14. Fente labiale (rare) Yeux 18. Congestion de la paupière inférieure ("allergic shiners") 19. Strabisme 22. Petit disque optique 24. Cataracte 25. Nodules de l'iris 26. Colobome de l'iris (rare) 28. Petits yeux Oreilles 35. Petites oreilles 40. Sinus, fistules auriculaires (rare) Nez 43. Pointe du nez en forme de bulbe 44. Pointe du nez bifide 47. Communication interventriculaire 48. Communication interauriculaire 51. Dextroposition de l'aorte 54. Coarctation distale de l'aorte 55. Coarctation proximale de l'aorte 56. Anomalies de la valve aortique 58. Anneau vasculaire 60. Transposition des gros vaisseaux Vaisseaux 64. Anomalies des veines jugulaires 70. Veines de petits calibres 71. Anomalies du cercle de Willis 82. Elargissement de la scissure Sylvienne

78. Velo Cardio Facial Syndrome Foundation (Qld) Inc. VCFS Foundation (Qld) Inc was established to help and support groups of VCFS sufferers and their families, with the view to social contact, sharing http://www.vcfs.com.au/

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79. VCFS / Velo Cardio Facial Syndrome - Discussion Forum This board provides a discussion board for parents, carers and patientswith VCFS (Velo Cardio Facial syndrome). VCFS Discussion Forum. http://www.vcfs.org/

VCFS Discussion Forum Post your own New Message Don't panic! - You can always delete your own postings. Subject Date Author Mynephew is 18 w VCFS 30 Mar 2003 Gail pharyngeal flap surgery 27 Mar 2003 Melanie vcf and behaviors 26 Mar 2003 Melissa son just diagnosed 21 Mar 2003 Michelle im depresst all the time 06 Mar 2003 Heather Paul Re: im depresst all the time 15 Mar 2003 Steffi Re: im depresst all the time 17 Mar 2003 Mario Could This Syndrome Have Been Missed In Our Son's Diagnosis 19 Aug 2002 denise Re: Could This Syndrome Have Been Missed In Our Son's Diagnosis 22 Aug 2002 Richard Re: Could This Syndrome Have Been Missed In Our Son's Diagnosis 05 Oct 2002 sheila Re: Could This Syndrome Have Been Missed In Our Son's Diagnosis 06 Oct 2002 denise Re: Could This Syndrome Have Been Missed In Our Son's Diagnosis 06 Oct 2002 denise Re: Could This Syndrome Have Been Missed In Our Son's Diagnosis 17 Mar 2003 Baxters Talk to other parents with digeorge babies 04 Nov 2002 Dyanna Re: Talk to other parents with digeorge babies 04 Nov 2002 Michael B Re: Talk to other parents with digeorge babies 23 Dec 2002 Debbie Re: Talk to other parents with digeorge babies 17 Mar 2003 Baxters Any VCFS People in Oregon?

80. VCFS / Velo Cardio Facial Syndrome - Discussion Forum: Message 94 This board provides a discussion board for parents, carers and patients withVCFS (Velo Cardio Facial syndrome). VCFS Discussion Forum Message 94. http://www.vcfs.org/index.phtml?q=read&a=94

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