1. MedWebPlus Subject Periodicals Angelman Syndrome Genetics MedWebPlus A service of Flexis, Inc. ADVERTISEMENT click here - ADVERTISEMENT- click here - ADVERTISEMENT advertisement ADVERTISEMENT http://www.medwebplus.com/subject/Periodicals/Angelman_Syndrome/Genetics

Main About MWP Contribute to MWP Contact Us A service of Flexis, Inc. Welcome to MedWebPlus 2.3! A free service to help you find health sciences information quickly and easily. Periodicals Angelman Syndrome Genetics Broader Terms: Biology Related Terms: Biological Sciences Developmental Biology Microbiology Neurobiology ... Parasitology Narrower Terms: Cloning Genome Models, Genetic Cytogenetics ... Pharmacogenetics Web Sites: No web sites found. Flexis, Inc. Privacy statement Powered by y-Base

2. Hebrew readstep.html. angelman syndrome genetics. Introduction to AngelmanSyndrome. Martha Sprowles' Letter From a Parent to a Parent. Angelman http://www.angelman.org/hebrew.htm

Angelman Syndrome Information in Hebrew The following are four pdf files that contain information about Angelman Syndrome in Hebrew. This material has been provided by Shabtai Atlow. If you have any questions about this material, please contact Shabtai at satlow@ndsisrael.com To read these files you must have Adobe Acrobat Reader installed. Free copies of Adobe Acrobat Reader are available from Adobe via their web site at http://www.adobe.com/prodindex/acrobat/readstep.html Angelman Syndrome Genetics Introduction to Angelman Syndrome Martha Sprowles' Letter From a Parent to a Parent ... Angelman Syndrome Rights - rights of an AS patient under Israeli law (deals with Social Security, Income Tax, Handicapped Parking Spaces, Getting special health related equipment, etc).

3. GeneReviews : Angelman Syndrome fulltext version of the review requires brief registration. angelman syndrome / genetics. Last modified 26/Apr/2002 http://omni.ac.uk/whatsnew/detail/4002924.html

Back to whats new page. GeneReviews : Angelman syndrome Notes for physicians on Angelman syndrome (AS). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in September 1998 (updated November 2000), this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Angelman Syndrome / genetics Last modified 26/Apr/2002 [Low Graphics]

4. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome Children's Health Medical genetics. Inside Children's Health. Uniparental Disomy PraderWilli syndrome, angelman syndrome http://www.mccg.org/childrenshealth/genetics/uniparen.asp

About MCCG News MCCG Careers Health Careers ... Home You are here Home Children's Health Medical Genetics Inside Children's Health SEARCH Children's Health Children's Health Home Adolescent Medicine Allergy, Asthma and Immunology Pediatric Arthritis and Other Rheumatic Diseases Burns Cardiovascular Disorders Craniofacial Anomalies Dental and Oral Health Dermatology Diabetes and Other Endocrine Metabolic Disorders Digestive and Liver Disorders Ear, Nose and Throat Eye Care Medical Genetics Growth and Development Hematology and Blood Disorders High-Risk Newborn High-Risk Pregnancy Infectious Diseases Child and Adolescent Mental Health Neurological Disorders Normal Newborn Oncology Orthopaedics Common Childhood Injuries and Poisonings Pregnancy and Childbirth Respiratory Disorders Safety and Injury Prevention The Child Having Surgery Care of the Terminally Ill Child Transplantation Genitourinary and Kidney Disorders Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome What is uniparental disomy? Normally, we inherit one copy of each chromosome pair from our biological mother, and the other copy of the chromosome pair from our biological father. Uniparental disomy refers to the situation in which two copies of a chromosome come from the same parent, instead of one copy coming from the mother and one copy coming from the father. Angelman syndrome and Prader-Willi syndrome are examples of disorders caused by uniparental disomy.

5. ANGELMAN SYNDROME of angelman syndrome. genetics. Angleman syndrome is caused by a deleted or missing segment in the proximal http://www.angelfire.com/md/danil/ANGELMAN.html

Last Updated: 12/23/94 ANGELMAN SYNDROME DEFINITION A chromosomal disorder resulting in a syndrome characterized by dysmorphic facial features with neurological and behavioural manifestations. EPIDEMIOLOGY: incidence: 1/20,000 age of onset: risk factors: maternally-derived de novo deletion of chromosome M= F PATHOGENESIS: 1. Historical Perspectives first reported in 1965 by Harry Angelman, an English general Paediatrician, in 3 children - called "puppet children" (Dev. Med. Child. Neurol. 7:681 [1965]) called "Happy Puppet Syndrome" by Bower and Jeavons (Arch. Dis. Child. 43: 298 [1967]) 2. Genetic Defect 1. Cytogentic Findings (Anomaly (%)) interstitial deletion (maternally-derived de novo deletion of chromosome 15q11-13)- 75-80% no cytogenetic anomaly found (10-15%) rearrangement of maternal chromosome 15 (5%) uniparental disomy (both chromosome 15's from father) - 3% CLINICAL FEATURES: 1. Neurological Manifestations gross motor developmental delay (100%) severe mental retardation (100%) ataxia +/- wide-based stiff gait (100%) absent speech (98%) truncal hypotonia (90%) limb hypertonia +/- flexion contractures (85%) hyperreflexia (85%) seizures (begin in infancy to 2nd year of life and tend to occur in clusters) - 80% 2. Facial Dysmorphisms*

6. Genetics 101 Of Angelman Syndrome of Scientific Symposium Sept 1997. genetics 101 of angelman syndrome. The UBE3A Gene and its Role in angelman syndrome http://www.asclepius.com/angel/genetics101.html

Charles A. Williams, M.D. GENETICS 101 OF ANGELMAN SYNDROME I. Definitions: Chromosome 15 - The chromosome that is abnormal in Angelman syndrome. We have 23 pairs of chromosomes, one derived from each parent. There are 22 pairs that are numbered numerically from 1 to 22, the final pair is an X and Y. We receive one chromosome 15 from our mother and one chromosome 15 from our father. Chromosomes contain millions of molecules that are condensed together at the time of cell division and thus are able to be seen under the microscope. 15qll-13 Region - Chromosomes are divided into short arms and long arms and have a central segment called a centromere. The short arm is call "P" and the long arm is called "q". The "q" region is divided numerically into several segments and the q11 - 13 segment refers to an area that is toward the middle of the number 15 chromosome. It spans about 5-10 million nucleic acid molecules so this region includes many genes. It is the region that is crucial in Angelman syndrome but also contains other genes such as those causing the PraderWilli syndrome.

7. MedWebPlus Subject Specialties Genetic Counseling Last update 24 September 1999. A, , GO, GeneClinics Medical genetics KnowledgeBase angelman syndrome Authors CA Williams; AC Lossie; DJ Driscoll. http://www.medwebplus.com/subject/Specialties/Genetic_Counseling

Main About MWP Contribute to MWP Contact Us A service of Flexis, Inc. Welcome to MedWebPlus 2.3! A free service to help you find health sciences information quickly and easily. Specialties Genetic Counseling Broader Terms: Family Planning Genetics Focussed Subsets: Angelman Syndrome Fragile X Syndrome Lists of Internet Resources Prader-Willi Syndrome ... Smith-Lemli-Opitz Syndrome Web Sites: A GO American Board of Genetic Counseling A GO California State University, Northridge Genetic Counseling Program A GO Cancer Risk Assessment and Counseling (Patricia T. Kelly, Ph.D., Medical Geneticist) (Berkeley,California,USA) A GO GeneClinics: Medical Genetics Knowledge Base (formerly Genline): a knowledge base of expert-authored, up-to-date information relating genetic testing to the diagnosis, management, and counseling of individuals and families with inherited disorders. GeneClinics complements GeneTests which provides listings of clinical and/or research laboratories performing testing for heritable disorders A GO GeneClinics: Medical Genetics Knowledge Base Alzheimer's Disease Author: TD Bird. Last update: 24 September 1999

8. Angelman Syndrome My daughter Liselotte has angelman syndrome, a neurological disorder that is so rare that often I have to somewhat outdated, especially on the genetics part. The reason why it's http://people.zeelandnet.nl/fhof/angelman.htm

The facts Links Parent support Personal Stories Epilepsy Contact Photo Gallery Heaven must be missing an angel... My daughter Liselotte has Angelman syndrome, a neurological disorder that is so rare that often I have to explain what it is, even to medical professionals. When Liselotte was diagnosed, June 1996, there was little information on the web, except for a page in England maintained by John Miles. When I heard that this Angelman site was to be discontinued I asked and was given permission to copy the contents of the page to mine. I decided to add links to everything I had found and share other things I learned about AS. Now there are many web sites about Angelman Syndrome, and the time has come to share the work. My links page, for instance, links to the links page of the IASO. The things that distinguish this site from others are Martha Sprowles's brochure for parents new to AS (under the "The facts" menu item) and the Photo Gallery. Don't leave this site without having had a look at those sections. The section written by John Miles is somewhat outdated, especially on the genetics part. The reason why it's still on this site is because the document convinced me that my daughter had this syndrome when she was 7 months. That makes it a valuable piece of writing, and please visit other sites for an update on the chromosome and the gene stuff.

9. Genetics 101 Of Angelman Syndrome Charles A. Williams, MD 7/4/97. genetics 101 OF angelman syndrome. I. DefinitionsChromosome 15 The chromosome that is abnormal in angelman syndrome. http://asclepius.com/angel/genetics101.html

Charles A. Williams, M.D. GENETICS 101 OF ANGELMAN SYNDROME I. Definitions: Chromosome 15 - The chromosome that is abnormal in Angelman syndrome. We have 23 pairs of chromosomes, one derived from each parent. There are 22 pairs that are numbered numerically from 1 to 22, the final pair is an X and Y. We receive one chromosome 15 from our mother and one chromosome 15 from our father. Chromosomes contain millions of molecules that are condensed together at the time of cell division and thus are able to be seen under the microscope. 15qll-13 Region - Chromosomes are divided into short arms and long arms and have a central segment called a centromere. The short arm is call "P" and the long arm is called "q". The "q" region is divided numerically into several segments and the q11 - 13 segment refers to an area that is toward the middle of the number 15 chromosome. It spans about 5-10 million nucleic acid molecules so this region includes many genes. It is the region that is crucial in Angelman syndrome but also contains other genes such as those causing the PraderWilli syndrome.

10. Links To Angelman Syndrome Websites info.html. Dan Harvey The genetics of angelman syndrome http//chemfaculty.ucsd.edu/harvey/asgenetics.Reviews of genetics. Charles http://asclepius.com/iaso/links.html

IASO Home Statement of Purpose Member Associations Board Members ... Contact Us Server space provided by Harold Anderson: http://asclepius.com Angelman Syndrome Links Attention: Submit your links for unlisted websites! If anyone is aware of any useful AS sites that are not listed, or any links below that are broken, please contact: Heikki.Taimio.IASO@angelmansyndrome.org National Angelman Syndrome Associations Argentina Denmark Italy USA ... UK (ASSERT) Other Web Sites Adrian ALTONA (Australia), Angel Down Under: http://members.optusnet.com.au/~altona http://www.asclepius.com/angel Richard and Nancy ANGLIN (USA), Steven’s World: http://hometown.aol.com/rnsanglin/StevensWorld.html Marc BISSONNETTE (Canada): http://www.internalysis.com/angelman Cheryl BRIGGS (USA), Angel Land: www.angeland.org Anna CAPDEVILA (Spain): http://www.lahistoriadeanna.com Tracy CARREOLA (USA), Not All Angels Are in Heaven: http://members.aol.com/Anjel401

11. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome More Health Information For a doctor who specializes in this topic, click here. Uniparental Disomy PraderWilli syndrome, angelman syndrome What is uniparental disomy? the father. angelman syndrome and Prader-Willi syndrome What is angelman syndrome (AS)? People with angelman syndrome http://www.chkd.com/Genetics/uniparen.asp

More Health Information Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmalogy Orthopaedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome What is uniparental disomy? Normally, we inherit one copy of each chromosome pair from our biological mother, and the other copy of the chromosome pair from our biological father. Uniparental disomy refers to the situation in which two copies of a chromosome come from the same parent, instead of one copy coming from the mother and one copy coming from the father. Angelman syndrome and Prader-Willi syndrome are examples of disorders caused by uniparental disomy. What is Angelman syndrome (AS)?

12. Development And Neurobiology Genetics Of Childhood Disorders Web Sites of Interest Facts About angelman syndrome http//www.asclepius.com/angel/asfinfo.htmlangelman syndrome Chromosome region; ANCR Happy Puppet syndrome http://info.med.yale.edu/chldstdy/plomdevelop/genetics/00julgen.htm

13. Developmental Genetics and angelman syndrome Implications for ImprintSwitch Models, Genetic Counseling,and Prenatal Diagnosis. Buiting et al., 1998. American J of Human genetics 63 http://info.med.yale.edu/genetics/clinical/HG500/developmental_genetics.htm

14. Development And Neurobiology: Genetics Of Childhood Disorders: XVI. Angelman Syn from the mother. angelman and PraderWilli syndromes are 2 The molecular basis for angelman will serve as the focus Individuals with angelman syndrome (AS) have severe motor and http://www.med.yale.edu/chldstdy/plomdevelop/genetics/00julgen.htm

J Am Acad Child Adolesc Psychiatry,39:7, 931-934 July 2000 Paul J. Lombroso, M.D. The contribution to human diseases of the genetic mechanism called imprinting has been discovered only during the past decade. Imprinting is not consistent with our previous understanding of how genes are expressed. Prior belief was that each gene in a cell had 2 alleles, one on the maternal and the other on the paternal chromosome. When a gene was turned on, both alleles were transcribed equally and functional protein was produced from both chromosomes. For the majority of genes, this is exactly what happens. However, when there is genetic imprinting, just 1 of the 2 alleles is expressed, while the other is silenced or "imprinted." Whether the allele is transcribed or not depends on whether it lies on the chromosome derived from the father or that derived from the mother. Angelman and Prader-Willi syndromes are 2 illnesses that exemplify this mechanism. The molecular basis for Prader-Willi was discussed in the last column. The molecular basis for Angelman will serve as the focus for the present column. I will review the clinical symptoms before turning to a discussion of the genetic basis for the disorder. Individuals with Angelman syndrome (AS) have severe motor and intellectual retardation. They are often hypotonic at birth, develop epilepsy soon thereafter, and rarely develop speech. They have unusual facies characterized by a large mandible and an open-mouthed expression. Additional features include an abnormal gait and puppet-like movements of their limbs. They are often described as "happy" children because of their frequent smiles and laughter. Several additional features include a facility for protruding their tongues, abnormal skin pigmentation, and a characteristic abnormal EEG discharge pattern.

15. NMAP: The UK's Gateway To High Quality Internet Resources In Nursing, Midwifery, angelman syndrome up. angelman syndrome / genetics angelman syndrome/ genetics. GeneReviews angelman syndrome, Notes for physicians http://nmap.ac.uk/browse/mesh/detail/C0162635L0189745.html

Angelman Syndrome [up] Angelman Syndrome / genetics Related topics: broader Abnormalities, Multiple Movement Disorders other Down Syndrome Incontinentia Pigmenti Marfan Syndrome Mental Retardation ... NINDS Angelman syndrome information page This Web resource on Angelman syndrome (a neurological disorder) is produced by the National Institute of Neurological Disorders and Stroke (NINDS). A description of Angelman syndrome is provided, and available treatments, prognosis, and current research activities are all discussed. Links to related organisations are provided. This resource has a US focus. Angelman Syndrome Mental Retardation Patient Education Handout [Publication Type] Angelman Syndrome / genetics GeneReviews : Angelman syndrome Notes for physicians on Angelman syndrome (AS). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in September 1998 (updated November 2000), this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Angelman Syndrome / genetics Last modified 28/Mar/2003 [Low Graphics]

16. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome Uniparental Disomy PraderWilli syndrome, angelman syndrome the father. angelman syndrome and Prader-Willi syndrome What is angelman syndrome (AS)? People with angelman syndrome http://www.med.utah.edu/healthinfo/pediatric/Genetics/uniparen.htm

Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome What is uniparental disomy? Normally, we inherit one copy of each chromosome pair from our biological mother, and the other copy of the chromosome pair from our biological father. Uniparental disomy refers to the situation in which two copies of a chromosome come from the same parent, instead of one copy coming from the mother and one copy coming from the father. Angelman syndrome and Prader-Willi syndrome are examples of disorders caused by uniparental disomy. What is Angelman syndrome (AS)? People with Angelman syndrome (AS) have mental retardation, severe speech problems, stiff arm movements, and a stiff, uncoordinated walk. They may have seizures and often have inappropriate outbursts of laughter. Angelman syndrome results when a baby inherits both copies of chromosome #15 from the father (rather than one from the mother and one from the father). What is Prader-Willi syndrome (PWS)?

17. NMAP: The UK's Gateway To High Quality Internet Resources In Nursing, Midwifery, Mental Retardation up. Mental Retardation / genetics NINDS angelmansyndrome information page, This Web resource on angelman syndrome http://nmap.ac.uk/browse/mesh/detail/C0025362L0025362.html

Mental Retardation [up] Mental Retardation / genetics Related topics: broader Mental Disorders Diagnosed in Childhood other Abnormalities, Multiple Angelman Syndrome Apraxias Communication Disorders ... Williams Syndrome narrower Down Syndrome Fragile X Syndrome Williams Syndrome British Institute of Learning Disabilities (BILD) The British Institute of Learning Disabilities (BILD) is an independent registered charity based in Kidderminster, UK. Since the organisation was founded in 1972 BILD has been committed to improving the quality of life for all people with a learning disability. BILD provide services that promote good practice in the provision and planning of the health and social care for people with learning disabilities. The site provides details about education and training, information resources, and publications. The contents pages or contact details for BILD journals are also available. Charities Great Britain Learning Disorders Mental Retardation ... Center for the Study of Autism The Center provides information about autism to parents and professionals and conducts research on the efficacy of various therapeutic interventions. Related developmental disorders are also covered. Autistic Disorder Developmental Disabilities Mental Retardation Journal of learning disabilities The Journal of Learning Disabilities, published quarterly by Sage Publications, provides a forum for the "exchange of best practice, knowledge and research between the academic and professional disciplines of education and social and health care, who are committed to the advancement of services for people with learning disabilities." The Web site provides tables of contents for current and past issues from April 2000. Information is also provided about the editorial board, subscription details, and notes for contributors, as well as a contents alerting service. This journal is available electronically via Ingenta to members of institutions with a print subscription.

18. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome Print Version. Medical genetics Uniparental Disomy PraderWillisyndrome, angelman syndrome. What is uniparental disomy? Normally http://www.musckids.com/health_library/genetics/uniparen.htm

Home About Us Departments MUSC eNurse ... Your Hospital Visit 171 Ashley Ave. Charleston, SC 29425 800-424-MUSC Print Version Medical Genetics Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome What is uniparental disomy? Normally, we inherit one copy of each chromosome pair from our biological mother, and the other copy of the chromosome pair from our biological father. Uniparental disomy refers to the situation in which two copies of a chromosome come from the same parent, instead of one copy coming from the mother and one copy coming from the father. Angelman syndrome and Prader-Willi syndrome are examples of disorders caused by uniparental disomy. What is Angelman syndrome (AS)? People with Angelman syndrome (AS) have mental retardation, severe speech problems, stiff arm movements, and a stiff, uncoordinated walk. They may have seizures and often have inappropriate outbursts of laughter. Angelman syndrome results when a baby inherits both copies of chromosome #15 from the father (rather than one from the mother and one from the father). What is Prader-Willi syndrome (PWS)?

19. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome MUSC Children's Hospital Health Library. Medical genetics Uniparental DisomyPraderWilli syndrome, angelman syndrome. What is uniparental disomy? http://www.musckids.com/health_library/genetics/uniparen.htm?print

20. Genzyme Corporation - Genetics a putative imprinting control region. Nature genetics 85258(1994). Kuwano A etal. Molecular dissection of the Prader-Willi/ angelman syndrome region (15q11 http://www.genzymegenetics.com/genetics/clinicalinfo/molgen/prader.htm

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