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100 results

  1. Long QT Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1129
    ... screening in long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome. Available online . 2001. Accessed 2-27-24. Wilde ... for Early Detection and Treatment of Long QT Syndrome Resources Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  2. MED12-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1676
    ... AD + CREBBP EP300 Rubinstein-Taybi syndrome AD + FBN1 Marfan syndrome AD + FLNA FG syndrome 2 (OMIM 300321 ) XL + ... NSID = nonspecific intellectual disability; XLOS = X-linked Ohdo syndrome ... of nomenclature. Chapter Notes Author ...
  3. 7q11.23 Duplication Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK327268
    ... of syndromes that are associated with aortic dilatation: Marfan syndrome , Loeys-Dietz syndrome , Ehlers-Danlos syndromes (EDS) (see ... posted live 10 July 2015 (cbm) Original submission ... T, Butler MG. The 7q11.23 microduplication syndrome: a clinical report with review of literature. J ...
  4. Periodontal Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK572429
    ... Loeys-Dietz syndrome Polycystic kidney disease, autosomal dominant Marfan syndrome Periodontitis is a multifactorial disorder caused by complex ... posted live 5 May 2021 (jz) Original submission ... syndrome, lead to identical molecular outcomes. Front Immunol. 2019; ...
  5. NOTCH3-Related Lateral Meningocele Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK368476
    ... 2 persons w/ NOTCH3 -related LMS. 2 FBN1 Marfan syndrome (MFS) AD NOTCH3 -related LMS has significant overlap ... posted live 19 February 2016 (re) Original submission References Literature Cited Avela K, Valanne L, Helenius I, Mäkitie O. Hajdu-Cheney syndrome with severe dural ectasia. Am J Med Genet ...
  6. Findings - Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK310456
    ... syndrome. FBN1 testing is typically used for diagnosing Marfan syndrome. Laboratories registered these tests under the velocardiofacial syndrome ... ROC) curves and area under the curve (AUC), reference range, repeatability, ... most studied condition. Table 6 Evidence ...
  7. EZH2-Related Overgrowth - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK148820
    ... adult yrs. ↑ weight Neuropsychiatric issues FBN1 FBN1 -related Marfan syndrome AD Tall stature Scoliosis Joint hypermobility Cognitive abilities ... posted live 23 January 2013 (ktb) Original submission ... Alazami AM, Alkuraya FS. Weaver syndrome and defective cortical development: a rare association. Am ...
  8. Dictionary of Cancer Terms - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65951
    ... healing MAO inhibitor MAP MAP2K gene mapatumumab Marcaine Marfan syndrome Margenza margetuximab margin marginal zone B-cell lymphoma ...
  9. Mitral Valve Prolapse | MVP | MedlinePlus 
    https://medlineplus.gov/mitralvalveprolapse.html
    ... born with a connective tissue disorder , such as Marfan syndrome or Ehlers-Danlos syndrome . Have Graves' disease , a ...
  10. Birt-Hogg-Dubé Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1522
    ... lesions, & hemorrhagic or fibrous nodules FBN1 FBN1 -related Marfan syndrome AD Lung cysts & spontaneous pneumothorax Lung bullae typically ... recent information. — ED. Table A. Birt-Hogg-Dube Syndrome: Genes and ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
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