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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

81. Augmentative Communication, Inc. - Articles On Line - Angelman's Syndrome & AAC
    Later the name was changed to angelman syndrome. now exist that can confirmthe existence of syndromes caused by chromosomal and genetic abnormalities.  
    http://www.augcominc.com/articles/8_3_1.html
    
    Extractions: of AAC devices. The history of medicine is full of interesting stories about the discovery of illnesses. The saga of Angelman Syndrome is one such story. Dr. Harry Angelman reflects: "It was purely by chance that nearly 30 years ago, three handicapped children were admitted at various times to my children's ward in England. They had a variety of disabilities; and although at first sight they seemed to be suffering from different conditions, I felt that there was a common cause for their illness. The diagnosis was purely a clinical one because in spite of technical investigations, which today are more refined, I was unable to establish scientific proof that the three children all had the same handicap. In view of this, I hesitated to write about them in the medical journals. However, when on holiday in Italy, I happened to see an oil painting in the Castelvecchio museum in Verona called a Boy with a Puppet.

82. Www.ddhealthinfo.org - Medical Care Information
    angelman syndrome is a genetic disorder characterized by physical abnormalitiesand impairments in neurological, motor, and intellectual functioning.  
    http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=3154

83. Encyclopedia: Angelman Syndrome
    angelman syndrome (AS) is neurological disorder in which severe learning whose deletion causes PraderWilli syndrome is a genetic disorder in which  
    http://www.nationmaster.com/encyclopedia/Angelman-syndrome
    
    Extractions: Related Articles People who viewed "Angelman syndrome" also viewed: Prader_Willi syndrome Turner syndrome Down syndrome List of genetic disorders ... Hypercortisolism What's new? Our next offering Latest newsletter Student area Lesson plans Recent Updates LinkFilter.net FAQ LimeWire Leven, Fife Lenzie ... More Recent Articles Top Graphs Richest Most Murderous Most Taxed Most Populous ... More Stats Updated 15 days 15 hours 14 minutes ago. Other descriptions of Angelman syndrome Angelman syndrome Angelman syndrome (AS) is neurological disorder in which severe learning difficulties are associated with a characteristic facial appearance and behavior. The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... Dr. Harry Angelman, a

84. Angelman Syndrome
    angelman syndrome a review of the clinical and genetic aspects angelman syndromea review of the clinical and genetic aspects Exceptionally mild  
    http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=568

85. Angelman, Rett And Prader-Willi Syndromes Consortium - Information For Physician
    Since angelman, Rett, and PraderWilli Syndromes are rare, there are low numbers of For a more detailed description of the genetics please refer to the  
    http://rdcrn.epi.usf.edu/arpwsc/physicians/
    
    Extractions: What is the Angelman, Rett and Prader-Willi Syndromes Consortium? Learn More Take Action Information for ... Contact Information Looking for disease definitions for Patients? Please Select From the Menu Below: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by mental retardation, severe speech/language delays, ataxia , seizures, and a happy disposition with episodes of spontaneous laughter. The genetic basis of AS is complex with at least 4 mechanisms that render the individual without a functional copy of the UBE3A gene. UBE3A, located on chromosome 15q11-13, is expressed only from the maternally-inherited chromosome (parent-of-origin specific gene expression is a phenomenon known as imprinting). Deletion of the maternal chromosome 15q11-13 accounts for approximately 70% of AS. The other mechanisms (uniparental disomy for the paternally-inherited chromosome 15; imprinting center defect causing inactivation of the maternally-inherited UBE3A; or mutation within the maternally-inherited UBE3A ) account for 15-20% of cases. Approximately 10-15% of cases are diagnosed clinically and do not have a molecularly defined basis. Symptoms of AS include functionally severe developmental delay, absent or nearly absent speech

86. Gene Glitch In Angelman Syndrome Identified - From The Laboratories Online Newsl
    angelman syndrome is a rare genetic condition, affecting between 1 in 15000 to1 in 30000 people. Common symptoms include mental retardation, a nearly total  
    http://www.bcm.edu/fromthelab/vol02/is4/03apr_n3.htm
    
    Extractions: Photos Available Upon Request Comments, Suggestions? By Anissa Anderson Orr David Sweatt, PhD The happy disposition that is a hallmark of Angelman Syndrome masks serious problems deep inside the brain. Angelman children cannot learn normally and have particular difficulty with spoken language. Using a genetically engineered mouse developed at Baylor College of Medicine, researchers have discovered a glitch that might prevent Angelman patients from developing long-term memory. The discovery was published in the April 1 issue of the Journal of Neuroscience Angelman Syndrome Angelman Syndrome is a rare genetic condition, affecting between 1 in 15,000 to 1 in 30,000 people. Common symptoms include mental retardation, a nearly total lack of speech and unique behaviors such as inappropriate bursts of laughter and hyperactivity.

87. Characteristics Of Epilepsy In Angelman Syndrome Patients Elucidated : Epilepsy.
    angelman syndrome is a genetic disorder caused by defects in the maternallyinherited imprinted domain located on chromosome 15q11q13, according to  
    http://www.epilepsy.com/newsfeed/pr_1115645400.html
    
    Extractions: Characteristics of epilepsy in Angelman syndrome patients elucidated May 6, 2005 2005 MAY 6 - (NewsRx.com) The characteristics of epilepsy in Angelman syndrome patients have been elucidated. "Angelman syndrome is a genetic disorder caused by defects in the maternally inherited imprinted domain located on chromosome 15q11-q13," according to scientists in Spain. "Most patients with Angelman syndrome present with severe mental retardation, characteristic physical appearance, behavioral traits, and severe, early-onset epilepsy." In a recent study, M. Galvan-Manso and coauthors at Hospital Sant Joan de Deu in Barcelona "retrospectively reviewed the medical histories of 37 patients, all with the molecular diagnosis of Angelman syndrome and at least 3 years of follow-up in our neurology department, for further information about their epilepsy: age of onset, type of seizures initially and during follow-up, EEG recordings, treatments and response." "The molecular studies showed 87% deletions de novo, 8% uniparental, paternal disomy, and 5% imprinting defects," the investigators wrote in the journal Epileptic Disorders. "The median age at diagnosis was 6.5 years, with 20% having begun to manifest febrile seizures at an average age of 1.9 years."

88. Final Diagnosis -- Case 346
    Laboratory diagnosis and genetic counseling for angelman syndrome may be complex,and mutation studies of UBE3A may provide useful additional information in  
    http://path.upmc.edu/cases/case346/dx.html
    
    Extractions: FINAL DIAGNOSIS: The to 1507del6 variant in the UBE3A gene is previously unreported and of the type expected to cause Angelman Syndrome (See discussion). DISCUSSION: Angelman syndrome is characterized by mental retardation, speech impairment, motor dysfunction, movement/balance disorder, and inappropriate laughter. Most patients present with microcephaly, delay in developmental milestones and absence of speech during the first year of life. One of the cardinal behavioral features of Angelman syndrome is a happy disposition with unprovoked laughter, hence the name "Happy Puppet Syndrome". Patients also demonstrate hypopigmentation with fair skin and blue eyes. While our 2-year-old patient has clinical features characteristic for Angelman syndrome, evidence of a genetic defect should be taken into consideration to establish a definitive diagnosis. Mechanisms of Angelman Syndrome Angelman syndrome is caused by deficiency of gene expression from the maternally inherited chromosome 15q11-q13 region, which is subjected to genetic imprinting. Four classes of genetic mechanisms have been described: maternal deletion, paternal uniparental disomy (UPD), imprinting defects (ID), and mutations within the UBE3A gene (Figures and The most common mechanism, which occurs in 70-75% of patients, is a large interstitial deletion of ~4Mb on chromosome 15q11-q13 (Figure

89. Angelman Syndrome
    angelman syndrome (AS) is an uncommon neurogenetic disorder characterized bymental retardation, abnormal gait, speech impairment, seizures,  
    http://www.ncbi.nlm.nih.gov/disease/angelman.html
    
    Extractions: ANGELMAN SYNDROME (AS) is an uncommon neurogenetic disorder characterized by mental retardation, abnormal gait, speech impairment, seizures, and an inappropriate happy demeanor which includes frequent laughing, smiling, and excitability. The uncoordinated gait and laughter have caused some people to refer to this disorder as the 'happy puppet' syndrome. The genetic basis of AS is very complex, but the majority of cases are due to a deletion of segment 15q11-q13 on the maternally derived chromosome 15. When this same region is missing from the paternally derived chromosome, an entirely different disorder, Prader-Willi syndrome, results. This phenomenon - when the expression of genetic material depends on whether it has been inherited from the mother or the father - is termed genomic imprinting.

90. Inside UVA
    the most common genetic cause of obesity, and angelman syndrome, Most casesof PraderWilli and angelman syndromes are not diagnosed prenatally,  
    http://www.virginia.edu/insideuva/2001/32/switch.html
    
    Extractions: U.Va. initiative snags prize Secret John F. Kennedy tapes published by Miller Center Genetic switch causes syndromes Law library acquires major research collections U.Va.'s pristine research area draws scientists Museum plays educational, cultural role Off the Shelf recently published books by U.Va. faculty and staff ... Tae kwon-do can be good for business Genetic switch causes syndromes By Catherine Wolz R Health System are getting closer to finding out what causes two disabling childhood diseases, by identifying a naturally occurring on-off switching process that may control activation of genes that are missing pieces, according to results published online this month in the American Journal of Human Genetics. For some genes, only the paternal copy is active; if this copy is missing, Prader-Willi Syndrome results. For other genes, only the maternal copy is active, and loss of this copy causes Angelman Syndrome.

91. Angelman Syndrome: A Review Of The Clinical And Genetic Aspects -- Clayton-Smith
    angelman syndrome a review of the clinical and genetic aspects angelmansyndrome ( AS) is a neurodevelopmental disorder characterised by severe  
    http://jmg.bmjjournals.com/cgi/content/short/40/2/87
    
    Extractions: Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders ... Cited by other online articles PubMed PubMed Citation Articles by Clayton-Smith, J Articles by Laan, L Related Collections Genetics Journal of Medical Genetics

92. Resources For Genetic Counselors - Angelman Syndrome
    Genetic Counseling Outlines angelman syndrome (1) (2002) 1. Etiology a. Caused bydeficient expression or function of E6AP ubiquitin protein ligase 3A  
    http://www.genesoc.com/counseling2/article15.html

93. Focus | February 21, 1997
    Children who suffer from a rare disease called angelman syndrome struggle with for the genetic defect that causes angelman, or happy puppet, syndrome.  
    http://focus.hms.harvard.edu/1997/Feb21_1997/ped.html
    
    Extractions: Says Joe Wagstaff (above, left), who with Tatsuya Kishino (above right) and Marc Lalande (right) discovered the gene for Angelman syndrome: "Normal deletions are about five million letters. We were looking for a one letter change in that region." "Yet they seem to really enjoy a lot of things, and they're just much more easily stimulated to laugh and to smile," says Joseph Wagstaff, assistant professor of pediatrics at Children's Hospital. Wagstaff and Marc Lalande, associate professor of pediatrics, have been searching for the genetic defect that causes Angelman, or "happy puppet," syndrome. In the January 15

94. Journal Of The American Academy Of Child & Adolescent Psychiatry - UserLogin
    In contrast, angelman syndrome is a disorder featuring microcephaly, This isthe only genetic category of PraderWilli syndrome associated with a  
    http://www.jaacap.com/pt/re/jaacap/fulltext.00004583-200003000-00022.htm

95. Prader-Willi Syndrome Hub
    Genetic Testing for PraderWilli and angelman syndromes - by John P. Johnson,MD (MT). Prader-Willi syndrome from eMedicine - by Ann Scheimann, MD,  
    http://www.genomelink.org/pws/
    
    Extractions: Acne Allergy Antibiotics Antioxidants ... Prader-Willi syndrome - by the National Center for Biotechnology Information (NCBI). The Genes Involved in Prader-Willi and Angelman Syndromes Maternal Uniparental Disomy for Chromosome 15 in a Prader-Willi Patient With a Balanced t(3;21) - from the University of Alabama at Birmingham. Prader Willi Syndrome Center - from Baylor College of Medicine, Department of Molecular and Human Genetics. Genetic Testing for Prader-Willi and Angelman Syndromes - by John P. Johnson, MD (MT). Prader-Willi Syndrome from eMedicine - by Ann Scheimann, MD, Assistant Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Johns Hopkins Hospital and, Baylor College of Medicine. Prader-Willi Syndrome - by Suzanne B Cassidy, MD; Stuart Schwartz, PhD., Case Western Reserve University.

96. Medical Genetics Barnes-Jewish Molecular Diagnostic Lab
    Download the Medical genetics Test Request Form Adobe Acrobat PDF File View the PraderWilli and angelman Syndromes Test Information Sheet  
    http://www.surgery.wustl.edu/bjcmdl/medgen.htm
    
    Extractions: Screening utilizes polymerase chain reaction (PCR) and RFLP for detection of a point mutation (G1528C) in the long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) domain of the alpha subunit of the trifunctional protein at codon 474 (E474Q) in exon 15. The base pair change creates a new recognition site for the restriction enzyme Pst I.

97. Genetic Changes Of Chromosome Region 15q11-q13 In Prader-Willi And Angelman Synd
    Candidate genes for angelman syndrome. 2.3. Known genetic defects causingPraderWilli or angelman syndromes. 2.3.1. Deletions of chromosome region  
    http://herkules.oulu.fi/isbn9514270274/html/
    
    Extractions: Abstract The Prader-Willi (PWS) and Angelman (AS) syndromes are clinically distinct developmental disorders which are caused by genetic defects in the imprinted domain at chromosome 15q11-q13, resulting in the loss of paternal (PWS) or maternal (AS) gene function. In this study, the genetic changes of 15q11-q13 and their possible inheritance in Finnish PWS (n=76) and AS (n=47) patients are described. The diagnosis could be confirmed by laboratory methods in all PWS and in 43 (91%) AS patients. A deletion of 15q11-q13 accounted for 76% of the PWS and 67% of the AS patients in whom a specific genetic defect had been established. The origin of deletion was always paternal in PWS and maternal in AS. In PWS, deletions of four different sizes were detected, while in AS only type I or II deletions were found. The smallest overlap of deletions/critical region detected was from locus D15S13 to locus D15S10 in PWS and from locus D15S128 to locus D15S12 in AS. A rare recurrence of del(15)(q11q13) due to maternal germ line mosaicism is described. Maternal uniparental disomy of chromosome 15 accounted for 21% of PWS patients and paternal UPD for 2% of AS patients. In PWS, most UPD cases were due to errors in maternal meiosis (87%), most commonly leading to maternal heterodisomy (MI error). In AS, a rare error in the second segregation of paternal meiosis was found. UPD was associated with advanced maternal age, the mean being 34.6 years.

98. Eastern Mediterranean Health Journal, Vol. 5 No. 6, Use Of FISH Technique In The
    A genetic etiology for DiGeorge syndrome consistent deletions and Inheritedmicrodeletions in the angelman and PraderWilli syndromes define an  
    http://www.emro.who.int/Publications/EMHJ/0506/21.htm
    
    Extractions: Use of FISH technique in the diagnosis of chromosomal syndromes Volume 5, Issue 6, 1999, Page 1218-1224 M.A. Iqbal, C. Ulmer and N. Sakati SUMMARY Major chromosome abnormalities are present in 0.65% of all neonates. Fluorescent in situ hybridization (FISH) is useful in diagnosing microdeletion syndromes that would otherwise be difficult to diagnose using standard cytogenetics. In this study, we used FISH analysis in the laboratory diagnosis of 4 patients with Prader-Willi Syndrome [del(15)(q11.2q12)], 4 patients with DiGeorge syndrome [del(22)(q11.2q11.23)] and 4 patients with Williams syndrome [del(7)(q11.23q11.23)]. High-resolution chromosome analysis in all these patients was either normal or inconclusive but all the syndromes were confirmed using FISH. We recommend cytogenetic analysis should always be supplemented with FISH to diagnose all cases suspected of a microdeletion syndrome. Introduction It is well documented that 0.65% of neonates (1 in 156 live births) exhibit a major chromosomal abnormality [

99. AUTHORIZATION CHECK
    angelman syndrome is a genetic disorder associated with a de novo deletion ofchromosome 15q11–13 of maternal origin or with paternal uniparental disomy  
    http://aamr.allenpress.com/aamronline/?request=get-document&doi=10.1352/0895-801

100. MoSt GeNe/Genetic Drift/Genetic Testing For Prader-Willi And Angelman Syndromes
     The PraderWilli and angelman syndromes are distinct mental retardation Genetic testing for these disorders has improved markedly over the last 15 years  
     http://www.mostgene.org/gd/gdvol14h.htm
     
     Extractions: Vol. 14: Spring, 1997 Introduction Prader-Willi Syndrome (PWS) Angelman Syndrome (AS) Laboratory Testing for PWS/AS ... Illustrative Case Report Introduction The Prader-Willi and Angelman syndromes are distinct mental retardation disorders, but frequently discussed together because both are due to genetic abnormalities of chromosome 15. Genetic testing for these disorders has improved markedly over the last 15 years, reflecting our understanding of the molecular basis of these two conditions. This review will summarize the clinical findings, history of genetic testing and understanding of the basis of these conditions, and current recommendations for testing with a case example. Both syndromes can be diagnosed by history and physical examination, but the laboratory tests are helpful for clinical confirmation, in very young patients where a phenotype has not evolved, in prenatal diagnosis, and in defining recurrence risks. Prader-Willi Syndrome (PWS) Mental retardation, hypogonadism, hypotonia, obesity, characteristic facial appearance

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