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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. Greenwood Genetic Center - Library Resources
    Provides explanations of genetics theories and practices using fullmotion videoand Love in Any Language angelman syndrome, 1991, VT QS 675 Lov 1991, 15 min.  
    http://www.ggc.org/library.html

82. Chemistry Of The Cell And Genetics
    like to try this well written page on cat coat colour genetics angelman syndrome andPraderWilli syndrome are two different conditions both of which seem to be  
    http://www.ucl.ac.uk/~ucbhjow/bmsi/bmsi_4.html
    
    Extractions: Surprisingly, it is only in the last 50 years that we have begun to understand the nature of the biological events which determine our sex, (and for that matter, why we bother with sex at all and why two sexes are better than three or more). It is not so long ago that women were blamed if they failed to produce a son for their husband and clearly it was thought that the power of sex determination lay within the body of the woman. During this century the chromosomal basis of human sex determination has been demonstrated and in the last few years some of the genes responsible have been identified. The sexual identity of an individual is determined at several levels, chromosomal sex, gonadal sex, somatic sex and sexual orientation. The chromosomal basis of sex determination in humans was recognized when metaphase chromosomes from dividing male and female cells could be studied and counted. The normal karyotype contains 46 chromosomes including either two X chromosomes (46XX, females) or one X chromosome and one Y chromosome (46XY, males). Individuals with or karyotypes are female, individuals with

83. To Homepage Of Department To Homepage Of Faculty To Homepage Of
    of Human genetics 38267275, 1993; Saitoh S, Kubota T, Ohta T, Jinno Y, NiikawaN, Sugimoto T, Wagstaff J, Lalande M Familial angelman syndrome caused by  
    http://www.shinshu-u.ac.jp/souran/menu/gakubu-e/igakub/igakuk/eisei/kubota.html

84. Emory Genetics Lab, Prader-Willi / Angelman Methylation Studies
    PraderWilli syndrome (PWS) and angelman syndrome (AS) are clinically distinct, complex EmoryGenetics follows the recommendations of a joint American College  
    http://www.emory.edu/WHSC/GENETICSLAB/dna/prader.htm
    
    Extractions: Click here for Gene Reviews Clinical Summary for PWS Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct, complex disorders, and genetically heterogeneous. Both PWS and AS have been found to result from a deletion in the same area of chromosome 15 (15q11-q13). A deletion in the paternally contributed chromosome will result in PWS, while a deletion in the maternally contributed chromosome will result in AS. For PWS, greater than 70% of cases result from the deletion on chromosome 15 inherited from the father, while 25% occur due to maternal uniparental disomy (UPD). Approximately 5% of PWS cases have an abnormality in the imprinting process (resulting in nonexpression of the paternal genes in the PWS critical region). For AS, greater than 70% of cases result from the deletion on chromosome 15 inherited from the mother, while 3-5% occur due to paternal uniparental disomy (UPD). Another 2-3% of AS patients have an abnormality in the imprinting process. The remaining 25% in this group are hypothesized to have AS on the basis of a single gene mutation whose genetic locus is unknown. In order to determine the likelihood of recurrence for genetic counseling purposes, FISH, and methylation analysis with or without chromosome analysis will be necessary. Emory Genetics follows the recommendations of a joint American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee, for clinically valid identification and diagnosis of PWS and AS individuals published in 1996*:

85. Kuang-dong Wuu
    22 15 16 (1999). SCI. Jiang, Yh, E. Lev-Lehman , J. Bressler, TF Tsai, and ALBeaudet. genetics of angelman syndrome. Am. J. Hum. Genet. 65 1-6 (1999). SCI.  
    http://www.ym.edu.tw/ig/igweb/faculty/tft.html
    
    Extractions: ¡@Institute of Genetics, National Yang Ming University Ph.D. Graduate Institute of Microbiology and Immunology, National Yang-Ming University, Taipei, Taiwan Telephone: (02) 2826-7293 Fax: (02)2820-2449 e-mail: tftsai@ym.edu.tw Mouse Genetics Knockout and Transgenic Mice Jiang, Y.-h, T. F. Tsai, J. Bressler, and A. L. Beaudet. Imprinting in Angelman and Prader-Willi syndromes. Curr. Opin. Genet. Dev. 8: 334-342 (1998). SCI Tsai, T. F., M. J. Wu, and T. S. Su. The usage of cryptic splice sites in citrullinemia fibroblast suggests a role of polyadenylation in splice site selection during terminal exon definition. DNACell Biol. 17: 717-725 (1998). SCI Tsai, T. F., A. Raas-Rothschild, Z. Ben-Neriah, and A. L. Beaudet. Prenatal diagnosis and carrier detection for a point mutation in UBE3A causing Angelman syndrome. Am. J. Hum. Genet. 63:1561-1563 (1998). SCI Fang, P., E. Lev-Lehman, T. F. TsaL T. Matsuura, C. S. Benton, J. S. Sutcliff, S. L. Christian, T. Kubota, D. J. Halley, H. Meijers-Heijboer, S. Langlois, J. M. Graham, Jr., J. Beuten, P. J. Willems, D. H. Ledbetter, and A. L. Beaudet. The spectrum of mutations in UBE3A causing Angelman syndrome. Hum. Mol. Genet. 8: 129-135 (1999). SCI

86. PEDS: Division Of Genetics: Fluorescent In Situ Hybridization (FISH)
    genetics Menu Choose a genetics Resource. angelman syndrome D15S10 locus  
    http://peds.wustl.edu/div/genetics/spec/cyto/mc_fish.html
    
    Extractions: Bookmark this site Contact us Billing questions Accreditation Download the Cytogenetics and Molecular Cytogenetics requisition form FISH may be performed on either chromosomes or interphase nuclei in cultured or uncultured cells from amniotic fluid, chorionic villi, bone marrow, peripheral blood and fibroblasts. Full information regarding the FISH assay requested must be indicated on the requisition form. Please call the Cytogenetics Lab at (314) 454-8101 for any questions about FISH. Cultured peripheral blood lymphocytes are processed as for a routine cytogenetic study and analyzed by the investigative method FISH. The D15S10 cosmid (Vysis, Inc.) and a control probe, D15Z1 (Vysis, Inc.) which tag chromosomes 15 are hybridized to metaphase chromosomes. The D15S10 probe has been found deleted in a high proportion of patients with Prader Willi syndrome, Angelman syndrome or in other disorders with similar phenotypes. Although the probe is from the smallest region of overlap of the deletions in these patients, it is not known to be the specific gene which causes the phenotype.

87. Angelman Syndrome - Description, Links And Books
    angelman syndrome, description, links and books Clinical Features of. angelman syndrome EM, Zori RT. angelman syndrome Consensus for diagnostic criteria. and Handbooks. angelman syndrome. angelman syndrome, a parent's  
    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

88. Genzyme Corporation - Genetics
    Li, L, et al. Carrier frequency of the Bloom syndrome blmAsh mutation in the AshkenaziJewish population. Molecular genetics Metabolism 6428690(1998).  
    http://www.genzymegenetics.com/genetics/clinicalinfo/molgen/bloom.htm

89. Marfan Syndrome
    Marfan syndrome up. Marfan syndrome / genetics Marfan syndrome /genetics. GeneReviews congenital contractural arachnodactyly,  
    http://omni.ac.uk/browse/mesh/detail/C0024796L0024796.html
    
    Extractions: Marfan Association UK The Web site for the Marfan Association in the UK, providing a fact sheet for patients about the syndrome, news, events, a contact list of support groups, and a list of publications. Charities Great Britain Marfan Syndrome GeneReviews : congenital contractural arachnodactyly Notes for physicians on congenital contractural arachnodactyly (CCA, Beals Syndrome). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in January 2001, 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. Marfan Syndrome / genetics

90. Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome - Lucile Packard Ch
    Medical genetics. Uniparental Disomy PraderWilli syndrome, Angelmansyndrome What is uniparental disomy? Normally, we inherit one  
    http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/uniparen.html
    
    Extractions: 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)?

91. Angelman Syndrome
    Lalande M. Parental imprinting and human disease. Annual Review of Genetics1997;30173195. McKusick VA. Happy Puppet syndrome. angelman syndrome.  
    http://ibis-birthdefects.org/start/ukrainian/uangel.htm

92. Medical Genetics - Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
    Medical genetics Uniparental Disomy PraderWilli syndrome, Angelmansyndrome. What is uniparental disomy? Normally, we inherit one  
    http://www.mmhs.com/clinical/peds/english/genetics/uniparen.htm
    
    Extractions: Medical Genetics 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. 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)?

93. Angelmanin Oireyhtymä - WWW-sivuja, Kirjallisuutta
    Laan, LA den Boer A, Hennekam R., Renier W. Brouwer 0. (1996) angelman Syndromein Adulthood. American Journal of Medical genetics, 66, 356360.  
    http://www.kvtl.fi/angel/linkit.htm

94. Angelman Syndrome; Treatment, Prevention, Cure
    angelman syndrome Search here for information which may include treatment, diagnosis,prevention, support groups, email lists, messageboards, personal stories  
    http://www.healthlinkusa.com/content/18.html

95. Daniel J. Driscoll, M.D., Ph.D., Faculty, Molecular Genetics And Microbiology, U
    Prenatal Diagnosis 20300306, 2000. Lossie, AC and Driscoll, DJ Transmission ofAngelman syndrome by an affected mother.genetics in Medicine 1262-266, 1999.  
    http://www.mgm.ufl.edu/faculty/Ddriscoll.htm

96. Prader-Willi Syndrome
    Kubota T, et al. Methylationspecific PCR simplifies imprinting analysis. NatureGenetics 1997; 1616-17. References for angelman syndrome. • GeneClinic.  
    http://www.aruplab.com/testbltn/angelman.htm
    
    Extractions: References for Prader-Willi Syndrome • GeneClinic. http://www.geneclinic.org/ Prader-Willi Syndrome. • Kosaki K, et al. Prader-Willi and Angelman syndrome: diagnosis with a bisulfite-treated methylation specific PCR method. Am J Med Genet 1997; 73(3):308-313. • Kubota T, et al. Methylation-specific PCR simplifies imprinting analysis. Nature Genetics 1997; 16:16-17. References for Angelman Syndrome • GeneClinic. http://www.geneclinic.org/ Angelman Syndrome. • Kosaki K, et al. Prader-Willi and Angelman syndrome: diagnosis with a bisulfite-treated methylation specific PCR method. Am J Med Genet 1997; 73(3):308-313. • Kubota T, et al. Methylation-specific PCR simplifies imprinting analysis. Nature Genetics 1997; 16:16-17.

97. Angelman Syndrome Methylation
    angelman syndrome Methylation. DESCRIPTION angelman Xbal/Notl. Presenceof only the paternal band supports a diagnosis of angelman syndrome.  
    http://www.shodairhospital.org/angelman syndrome.htm
    
    Extractions: Contact Us Foundation Genetics Home ... Staff Angelman Syndrome Methylation DESCRIPTION: REASONS FOR REFERRAL Methylation testing can confirm a diagnosis of Angelman syndrome in a chiJd with consistent symptoms and signs as described above. According to "Diagnostic Testing for Prader-Willi and Angelman Syndromes" (Am J Hum Genet "If biparental inheritance is identified (by methylation)...most identifiable cases of Angelman syndrome are…ruled out."

98. Show_part
    the imprinted human PraderWilli syndrome regionGenes Dev9 contig of the Prader-Willi/Angelmanchromosome region Research into the genetics of autism and other  
    http://medschool.mc.vanderbilt.edu/cmn/php_files/show_partcmn.php?id3=880

99. Birth Defect Syndromes
    Birth Defects genetics Center. Diagnosis Syndromes - Issues  
    http://www.southalabama.edu/genetics/gdrophealth.htm

100. Medical Genetics - Non-Traditional Inheritance
     If you cannot find the information in which you are interested, please visit theMedical genetics Online Resources page in this Web site for an Internet/World  
     http://www.mccg.org/childrenshealth/genetics/nontrad.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 Non-Traditional Inheritance Inheritance patterns which do not fall into the chromosomal, single gene, or multifactorial categories, are referred to as “non-traditional”. Listed in the directory below are some examples, for which we have provided a brief overview. If you cannot find the information in which you are interested, please visit the

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