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Results 1 - 10 of 20 for Cellular mosaicism
  1. GeneReviews Glossary From the National Institutes of Health (National Center for Biotechnology Information)  
    Genetic Testing/Reference Desk ... Genetic Testing ... Newborn Screening/Reference Desk ... Newborn Screening ... National Center for Biotechnology Information ... From the National ...
    https://www.ncbi.nlm.nih.gov/books/NBK5191 - External Health Links
  2. Smith-Kingsmore syndrome 
    ... of mTORC1 and mTORC2: Connected yet apart in cellular and molecular aspects. Adv ... Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 Jul 1;73(7):836- ...
    https://medlineplus.gov/genetics/condition/smith-kingsmore-syndrome - Genetics
  3. Smith-Magenis syndrome 
    ... her egg cells. This phenomenon is called germline mosaicism. 17p- syndrome 17p11.2 ... Carmona-Mora P, Encina CA, Canales CP, Cao L, Molina J, Kairath P, Young JI, Walz K. Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  4. Ollier disease 
    ... molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene mutations cause the ... Enchondromatosis Enchondromatosis, multiple, Ollier type Multiple cartilaginous ...
    https://medlineplus.gov/genetics/condition/ollier-disease - Genetics
  5. Maffucci syndrome 
    ... molecule called NADPH, which is necessary for many cellular processes. IDH1 or IDH2 gene ... Chondrodysplasia with hemangioma Chondroplasia angiomatosis Dyschondroplasia and cavernous ...
    https://medlineplus.gov/genetics/condition/maffucci-syndrome - Genetics
  6. IDH1 gene 
    ... molecule called NADPH, which is necessary for many cellular processes. The NADPH ... This situation is called mosaicism.IDH1 gene mutations have been found in some ...
    https://medlineplus.gov/genetics/gene/idh1 - Genetics
  7. Ataxia neuropathy spectrum 
    ... to a novel C10Orf2 mutation with probable germline mosaicism. Neurology. 2005 ... cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
  8. Talking Glossary of Genetic Terms From the National Institutes of Health (National Human Genome Research Institute)  
    Birth Defects/Reference Desk ... Birth Defects ... Genetic Testing/Reference Desk ... Genetic Testing ... Genetic Counseling/Reference Desk ... Genetic Counseling ... Genes and Gene ...
    https://www.genome.gov/genetics-glossary - External Health Links
  9. Renal coloboma syndrome 
    ... to protect against cell death during periods of cellular stress.Variants in the PAX2 gene lead to the production of a ... PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet. 2000 Nov;8(11): ...
    https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome - Genetics
  10. MTOR gene 
    ... of mTORC1 and mTORC2: Connected yet apart in cellular and molecular aspects. Adv ... Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 Jul 1;73(7):836- ...
    https://medlineplus.gov/genetics/gene/mtor - Genetics
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