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  1. Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK304462
    ... spectrum disorder. Several better-defined DD syndromes, including Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, Rett syndrome, ...
  2. Resources for Genetics Professionals — Genetic Disorders Caused by Imprinting Errors and Uniparental Disomy Not ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535150
    ... syndrome 2% 20%-30% (maternal) 15q11.2-q13 Angelman syndrome 80% ~7% (paternal) 20q13 Pseudohypoparathyroidism 1B (See Disorders ...
  3. FMR1 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1384
    ... of imprinted genes in the paternally derived PWS/Angelman syndrome (AS) region (i.e., 15q11.2-q13) of ... Review posted live May 1996 (jt) Original submission ... testing and reporting of fragile X syndrome and other fragile X-associated disorders. Eur J ...
  4. WDR26-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK540448
    ... WDR26 -related ID Distinguishing from WDR26 -related ID Angelman syndrome Deficient expression/ function of maternally inherited UBE3A allele ... posted live 10 May 2018 (cs) Original submission ... region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for ...
  5. Educational Materials — Genetic Testing: Current Approaches - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK279899
    ... 923,087-86,979,631 BMPR1A GRID1 NRG3 Angelman syndrome (15q11.2-q13 maternal deletion ) 7 Mb 4 ... 396,223-154,555,683 GDI1 Xq28 duplication syndrome, Int22h1/Int22h2 ... following standard references: chromosome locus from OMIM, genes from HGNC. 2. ...
  6. Resources for Genetics Professionals — Epigenetic Signature Analysis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK550348
    ... 2-q13 Paternal hypermethylation due to imprinting defect Angelman syndrome Maternal 15q11.2-q13 deletion Paternal UPD of ... View in own window Gene(s) Disorder MOI References ADNP ADNP -related ... disorder , Coffin-Siris syndrome 2 , Nicolaides-Baraitser syndrome ) AD Aref-Eshghi et ...
  7. Smith-Magenis Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1310
    ... expression or function of maternally inherited UBE3A allele Angelman syndrome See footnote 1. Speech-language delay Strabismus Scoliosis ... more recent information. — ED. Table A. Smith-Magenis Syndrome: Genes and ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  8. Schaaf-Yang Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK567492
    ... analysis of the 15q11.2 region (Prader-Willi/Angelman syndrome locus ) Any of the following hormonal or metabolic ... more recent information. — ED. Table A. Schaaf-Yang Syndrome: Genes and ... compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  9. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... Dental findings and special care in patients with Angelman syndrome: a report of three cases. Spec Care Dentist. ...
  10. Phelan-McDermid Syndrome-SHANK3 Related - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1198
    ... Deficient expression/function of maternally inherited UBE3A allele Angelman syndrome Depends on mechanism leading to loss of UBE3A ... gratefully acknowledge the members of the Phelan-McDermid Syndrome Foundation for their participation in research and for their generous sharing of ... Cited Anderlid BM, Schoumans J, Anneren G, ...
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