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173 results
  1. Genetics of Kidney Cancer (Renal Cell Cancer) (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK169222
    ... Genet 47 (6): 385-90, 2010. [ PubMed : 20522427 ] Schmidt LS, Warren MB, Nickerson ML, et al.: Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney ...
  2. Birt-Hogg-Dubé Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1522
    ... 13 :e0209504 [ PMC free article : PMC6306193 ] [ PubMed : 30586397 ] Schmidt LS, Linehan WM. Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome. Nat Rev Urol. 2015; 12 :558–69. [ PMC ...
  3. MCM6 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mcm6
    ... 23. Citation on PubMed Shastri VM, Subramanian V, Schmidt KH. A novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes. ...
  4. Sézary syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/sezary-syndrome
    ... Torres AN, Vermeer MH, Zoutman WH, Tensen CP, Schmidt CA. Genetic rearrangements result in altered gene expression and novel fusion transcripts in Sezary syndrome. Oncotarget. 2017 Jun 13;8(24):39627-39639. ...
  5. Silver-Russell Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1324
    ... PubMed : 26969265 ] Schönherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T. The centromeric 11p15 imprinting centre is also involved in Silver Russell syndrome. J Med Genet. 2007; 44 :59–63. [ PMC ...
  6. POLR3-Related Leukodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK99167
    ... REFERENCE ONLY Vanderver A, Tonduti D, Schiffmann R, Schmidt J, van der Knaap MS. GeneReviews®. 1993 A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report. [BMC Pediatr. 2018] A novel ...
  7. PAX6 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pax6
    ... a.32209. Citation on PubMed Ticho BH, Hilchie-Schmidt C, Egel RT, Traboulsi EI, Howarth RJ, Robinson D. Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. Ophthalmic Genet. ...
  8. Birt-Hogg-Dubé syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/birt-hogg-dube-syndrome
    ... Greenberg C, Lerman MI, Linehan WM, Zbar B, Schmidt LS. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell. 2002 Aug;2(2):157-64. ...
  9. Rubinstein-Taybi syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/rubinstein-taybi-syndrome
    ... 2006 Jun 17. Citation on PubMed Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. ...
  10. CREBBP gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/crebbp
    ... 2006 Jun 17. Citation on PubMed Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. ...
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