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36 results
  1. PROP1-Related Combined Pituitary Hormone Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1347
    ... Myking OL. Pituitary dwarfism in the R271W Pit-1 gene mutation. Eur J Pediatr. 1997; 156 :829–34. [ ... S. A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency. ...
  2. Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65830
    ... hyperparathyroidism 2 gene; MEN1 = multiple endocrine neoplasia type 1 (gene is italicized); NETs = neuroendocrine tumors; PHPT = primary hyperparathyroidism. ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... related-gene-list ><related-gene ><gene-symbol >NKX2-1</gene-symbol><ghr-page >https://medlineplus.gov/genetics/gene/ ... synonym >breast cancer 1</synonym><synonym >breast cancer 1 gene</synonym><synonym >breast cancer 1, early onset</synonym>< ...
  4. WAS-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1178
    ... WAS 301000 WISKOTT-ALDRICH SYNDROME; WAS 313900 THROMBOCYTOPENIA 1; THC1 Gene structure. WAS comprises 12 exons that span more ... insertions and complex rearrangements. See Table A . Normal gene product . The 1.8 kb mRNA transcript encodes an intracellular 53- ...
  5. Spondylocostal Dysostosis, Autosomal Recessive - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK8828
    ... Autosomal Recessive Spondylocostal Dysostosis View in own window Gene 1 (AR SCDO subtype) Proportion of AR SCDO Attributed ... the presomitic mesoderm; TBX6 is a T-box transcription factor ; TBX6 activates DLL1 gene expression, which is an activating ligand of the Notch1 receptor; it also activates ...
  6. PLAGL1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/plagl1
    ... and Diseases from OMIM PLAG1-LIKE ZINC FINGER 1; PLAGL1 Gene and Variant Databases NCBI Gene ClinVar References Abdollahi A. LOT1 (ZAC1/PLAGL1) and its family members: mechanisms and functions. J Cell Physiol. 2007 Jan;210(1):16-25. doi: 10.1002/jcp.20835. Citation ...
  7. Noonan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1124
    ... in Noonan Syndrome (NS) View in own window Gene 1 Proportion of NS Attributed to Pathogenic Variants in ... Unknown 17 100% Unknown 9 Others 18 NA 1. See Table A. Genes and Databases for chromosome locus and protein. 2. ...
  8. Costello Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1507
    ... Used in Costello Syndrome View in own window Gene 1 Method Proportion of Probands with a Pathogenic Variant ... targeted deletion/duplication analysis 5 Not applicable 6 1. See Table A. Genes and Databases for chromosome locus and protein. 2. ...
  9. ZAP70-Related Combined Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK20221
    ... ZAP70 -Related Combined Immunodeficiency View in own window Gene 1 Test Method Proportion of Probands with Pathogenic Variants ... Gene-targeted deletion/duplication analysis 5 Unknown 6 1. See Table A. Genes and Databases for chromosome locus and protein. 2. ...
  10. Ataxia-Telangiectasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK26468
    ... Used in Ataxia-Telangiectasia View in own window Gene 1 Method Proportion of Probands with Pathogenic Variants 2 ... 4 Deletion/ duplication analysis 5 1%-2% 6 1. See Table A. Genes and Databases for chromosome locus and protein. 2. ...
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