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Angelman Syndrome Genetics:     more detail

Angelman syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Jennifer, MS, CGC Roggenbuck, 2005 Chromosomal abnormalities: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Michelle, MS, CGC Bosworth, 2005 Prader-Willi Syndrome: and Other Chromosome 15q Deletion Disorders (NATO ASI Series / Cell Biology)

lists with details

1. 600 Mile Walk - Angelman Syndrome
   Alaska Department angelman syndrome angelman syndrome and Social counseling angelman syndrome genetics genome support group inherited angelman syndrome geneticist counselling  
   http://www.600milewalk.org/angelman_syndrome-1.html
   
   Extractions: Top Searches angelman syndrome cushings syndrome, cushings picture syndrome cushings dog angelman syndrome syndrome cushings angelman syndrome angelman syndrome thought to be a angelman syndrome angelman syndrome of the connective tissue the Ehlers Danlos Syndrome is now believed to affect 1 in every 5, 000 people. Hospital for angelman syndrome Surgery's Rheumatology Division provides information and education for physicians, patients angelman syndrome angelman syndrome about rheumatic diseases: arthritis, lupus, myositis, vasculitis, fibromyalgia, osteoporosis, Lyme Disease, gout, and joint pain management. Pop in to angelman syndrome osteopathy and reflexology clinic in central London for holistic treatment of angelman syndrome pain angelman syndrome sports injuries. City clinic specialises in alternative angelman syndrome angelman syndrome our staff are highly qualified acupuncturists and angelman syndrome herbal medicine practitioners.

2. MedWebPlus Subject Periodicals Angelman Syndrome Genetics
   http://medwebplus.com/subject/Periodicals/Angelman_Syndrome/Genetics

3. MedWebPlus Subject Periodicals Angelman Syndrome Genetics
   http://medwebplus.com/subject/Periodicals/Angelman_Syndrome/Genetics/Models,_Gen

4. Angelman Syndrome
   imprinting defects in PraderWilli syndrome and angelman syndrome implications for imprint-switch models TF, Beaudet AL (1999) genetics of angelman syndrome. Am J Hum Genet  
   http://www.geneclinics.org/profiles/angelman/details.html
   
   Extractions: 29 July 2003 Disease characteristics. Angelman syndrome (AS) is characterized by: 1) severe developmental delay or mental retardation; 2) severe speech impairment; 3) gait ataxia and/or tremulousness of the limbs; and 4) a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. In addition, microcephaly and seizures are common. Diagnosis/testing. The diagnosis of Angelman syndrome rests upon a combination of clinical features and molecular genetic testing and/or cytogenetic analysis. Consensus clinical diagnostic criteria for AS have been developed. Analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region detects ~78% of patients with AS, including those with a deletion uniparental disomy , or an imprinting defect; fewer than 1% of patients have a cytogenetically visible chromosome rearrangement (i.e.

5. Angelman Syndrome
   Anderson Computer Services; angelman syndrome Consensus for DiagnosticCriteria, American Journal of Medical genetics 56237238 (1995);  
   http://www.kumc.edu/gec/support/angelman.html
   
   Extractions: Summary of AS genetics International Groups Australia: Angelman Syndrome Association , Australia Angelman Syndrome Association of South Australia , P.O. Box 2025, South Plympton SA 5038, Phone / Fax (08) 8371 4255, E-mail: simsclan@cobweb.com.au Austria: Belgium: Angelman Stichting België, Stephensonstraat 108, 1000 Brussel, België, Phone: +32 2 3755237 na 20 u. or +32 2 6732754 na 20 u. Brazil: Associação Sindrome de Angelman (ASA-Brazil) Canada: Canadian Angelman Syndrome Society, PO Box 37, Priddis, Alberta, TOL 1WO, Canada, Phone: (403) 9312415, E-mail: cass@cadvision.com China (Hong Kong): Choi San Chueh, Room A, Block 39, 16/F, Broadway, Mei Foo Sun Chuen, Kowloon, Hong Kong Denmark : Angelmanforeningen I Danmark, Østerskovvej 18, DK-4682 Tureby, DENMARK, Phone: +45 56 28 51 68, E-mail:

6. Angelman Syndrome - Description, Links And Books
   angelman syndrome, description, links and books angelman syndrome. angelman syndrome, a parent's brochure for parents. angelman syndrome information Facts About angelman syndrome. genetics 101 OF angelman syndrome. Heaven must  
   http://www.isn.net/~jypsy/angelman.htm
   
   Extractions: Angelman Syndrome Consistent (100%) Associated (20 - 80%) Strabismus Hypopigmented skin and eyes Tongue thrusting; suck/swallowing disorders Hyperactive tendon reflexes Feeding problems during infancy Uplifted, flexed arms during walking Prominent mandible Increased sensitivity to heat Wide mouth, wide-spaced teeth

7. 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
   
   Extractions: 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

8. Genetics 101 Of Angelman Syndrome
   Charles A. Williams, M.D.7/4/97. 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  
   http://www.asclepius.com/angel/genetics101.html
   
   Extractions: 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

9. Welcome To The International Angelman Syndrome Organisation - IASO
   genetics by reading a Primer on Molecular genetics and The Science Behind theHuman Genome Project as well as Dan Harvey s genetics of angelman syndrome .  
   http://asclepius.com/iaso/frankheikki.html

10. Angelman Syndrome Information For Families And Professionals
    angelman syndrome for Families and Professionals of Scientific Symposium Sept 1997. genetics 101 of angelman syndrome. The UBE3A Gene and its Role in angelman syndrome  
    http://www.asclepius.com/angel
    
    Extractions: None of the information contained herein is meant to be a substitute for professional medical attention or advice. Angelman Syndrome Information Updated Facts about Angelman Syndrome January 18, 2002 Realidades sobre el Síndrome de Angelman January 18, 2002 Japanese Facts About Angelman Syndrome1996 ASF Summary of Scientific Symposium Sept 1997 ... The UBE3A Gene and its Role in Angelman Syndrome April 2000 The Angelman Syndrome Message Board Is Currently Not Working Angelman Syndrome Photos My niece Shannon Angelman Syndrome Links (Huge from the IASO) Special Education Links Hints and ideas for Everyday Living for Parents of Angelman Children

11. Angelman Syndrome
    angelman syndrome / genetics. GeneReviews angelman syndrome. Notes forphysicians on angelman syndrome (AS). angelman syndrome / genetics;.  
    http://omni.ac.uk/browse/mesh/C0162635L0189745.html
    
    Extractions: low graphics Angelman Syndrome Angelman Syndrome / genetics broader: Abnormalities, Multiple Chromosome Disorders Movement Disorders other: Alagille Syndrome Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome Cockayne Syndrome ... Williams Syndrome 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. Patient Education Handout [Publication Type] Mental Retardation Angelman Syndrome ASSERT : Angelman Syndrome Support Education and Research Trust ASSERT is a UK based support group for parents and relatives of people with Angelman Syndrome (AS). ASSERT aims to raise awareness of this condition, fund research, act as a forum for communication between families of people with AS, provide information for doctors to use with families of newly diagnosed individuals, provide a 24 hour support line, and to forge links with overseas AS organisations. The site explains what AS is, discusses the diagnosis of AS, and provides access to ASSERT newsletters (in PDF, requiring Adobe Acrobat Reader). Details of ASSERT trustees are also included, along with links to other useful resources. Self-Help Groups Angelman Syndrome Angelman Syndrome / genetics

12. GeneReviews : Angelman Syndrome
    references of the review. Free access to the fulltext version of thereview requires brief registration. angelman syndrome / genetics.  
    http://omni.ac.uk/whatsnew/detail/4002924.html
    
    Extractions: 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

13. Prader-Willi And Angelman Syndromes
    angelman syndrome (AS) is a clinically distinct disorder from PWS that can alsobe difficult AS on the basis of a single gene mutation whose genetic locus is  
    http://www.faseb.org/genetics/acmg/pol-22.htm
    
    Extractions: Am. J. Hum. Genet. 58:1085-1088, 1996 Angelman syndrome (AS) is a clinically distinct disorder from PWS that can also be difficult to diagnose, particularly in the first few years of life. Approximately 70% of cases of AS have a deletion of 15q11-q13 in the maternally contributed chromosome 15. In most cases, this is the same deletion as that identified in PWS. About 3%-5% of cases of AS are due to paternal UPD. An abnormality in the imprinting process has been described in about one-third of the remaining 25% of patients; others in that gro up are hypothesized to have AS on the basis of a single gene mutation whose genetic locus is unknown. This category includes some familial cases that are mapped to 15q11-q13. None of the recurrences of PWS or AS, to date, have involved the typical deletion or UPD, but rather have involved translocations, imprinting mutations, or AS patients with no detectable molecular abnormality. The following are the recommendations of a Joint American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee working group, which was convened to identify scientifically and clinically valid approaches to the diagnosis of PWS and AS and determination of their genetic basis.

14. Angelman Syndrome
    insurmountable. return to top. The genetics of angelman syndrome. In themajority of families there is only one individual affected by AS. In  
    http://people.zeelandnet.nl/fhof/angelman/asi.htm
    
    Extractions: Research into Angelman Syndrome Angelman Syndrome (AS) is neurological disorder in which severe learning difficulties are associated with a characteristic facial appearance and behaviour. Dr. Harry Angelman, a paediatrician working in Warrington, Cheshire, first reported three children with this condition in 1965 and it was initially presumed to be rare. In 1987, it was first noted that around half of the children with AS have a small piece of chromosome 15 missing (chromosome 15 deletion). Since this time the condition has been reported more frequently and the incidence is now thought to be 1 in 25,000 children. return to top The diagnosis of AS is usually made by a paediatrician or clinical geneticist and is based on:

15. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
    Ear, Nose, Throat. genetics. Gastroenterology. Growth. Hematology. High Risk Newborn copy coming from the father. angelman syndrome and PraderWilli syndrome are examples of disorders  
    http://www.chkd.com/../../Genetics/Uniparen.asp
    
    Extractions: 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 Ophthalmology Orthopedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search 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)?

16. Entrez PubMed
    Click here to read genetics of angelman syndrome. angelman syndrome/genetics*;Animals; Brain/metabolism; Chromosomes, Human, Pair 15;  
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed

17. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
    Eye Care. Medical genetics. Growth and Development. Hematology and Blood Disorders copy coming from the father. angelman syndrome and PraderWilli syndrome are examples of disorders  
    http://www.mccg.org/childrenshealth/genetics/uniparen.asp
    
    Extractions: 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.

18. Entrez PubMed
    angelman syndrome/complications; angelman syndrome/genetics*; angelmansyndrome/physiopathology; Electroencephalography; Epilepsy/etiology;  
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

19. Your Child | Angelman Syndrome
    The International angelman syndrome Organisation (IASO) was founded as an a site forsiblings of angelman kids. genetics and genetic testing for AS—this is  
    http://www.med.umich.edu/1libr/yourchild/angels.htm
    
    Extractions: What is Angelman syndrome? Angelman syndrome (AS) is an inherited neurological disorder resulting in severe learning difficulties, developmental delay, and typical facial appearance and behavior. The most common age of diagnosis with Angelman syndrome is between three and seven years when the signs become most evident. AS affects about 1 in 25,000 children. To learn more about genetics and to better understand how genes cause syndromes, see Your Child: Genetic Syndromes Where can I find more information and support? Your Child: Genetic Syndromes Your Child: Chronic Conditions Your Child: Developmental Delay Your Child: Learning Disabilities Your Child: Siblings of Children with Special Needs The Angelman Syndrome Foundation (ASF) promotes education, information exchange and research.

20. Genetic Conditions / Rare Conditions Information Site
    Anorchia; angelman syndrome; Anopthalmia; Apert syndrome; degeneration); Xerodermapigmentosum; Zellweger syndrome; geneticist Professional genetics Societies;  
    http://www.kumc.edu/gec/support/
    
    Extractions: Revised January 22, 2004 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

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