BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

404 related articles for article (PubMed ID: 17916435)

  • 1. Hematologically important mutations: Shwachman-Diamond syndrome.
    Costa E; Santos R
    Blood Cells Mol Dis; 2008; 40(2):183-4. PubMed ID: 17916435
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Shwachman-Diamond syndrome--a diagnostic challenge].
    Toiviainen-Salo S; Savilahti E; Mäkitie R; Mäkitie O
    Duodecim; 2010; 126(14):1711-9. PubMed ID: 20804090
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of novel mutations in patients with Shwachman-Diamond syndrome.
    Nicolis E; Bonizzato A; Assael BM; Cipolli M
    Hum Mutat; 2005 Apr; 25(4):410. PubMed ID: 15776428
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Shwachman-Diamond syndrome.
    Shimamura A
    Semin Hematol; 2006 Jul; 43(3):178-88. PubMed ID: 16822460
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Shwachman-Diamond syndrome.
    Dror Y
    Pediatr Blood Cancer; 2005 Dec; 45(7):892-901. PubMed ID: 16047374
    [TBL] [Abstract][Full Text] [Related]  

  • 6. SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?
    Mellink CH; Alders M; van der Lelie H; Hennekam RH; Kuijpers TW
    Cancer Genet Cytogenet; 2004 Oct; 154(2):144-9. PubMed ID: 15474150
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.
    Taneichi H; Kanegane H; Futatani T; Otsubo K; Nomura K; Sato Y; Hama A; Kojima S; Kohdera U; Nakano T; Hori H; Kawashima H; Inoh Y; Kamizono J; Adachi N; Osugi Y; Mizuno H; Hotta N; Yoneyama H; Nakashima E; Ikegawa S; Miyawaki T
    Int J Hematol; 2006 Jul; 84(1):60-2. PubMed ID: 16867904
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation analysis of SBDS in pediatric acute myeloblastic leukemia.
    Majeed F; Jadko S; Freedman MH; Dror Y
    Pediatr Blood Cancer; 2005 Dec; 45(7):920-4. PubMed ID: 16007594
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A zebrafish model for the Shwachman-Diamond syndrome (SDS).
    Venkatasubramani N; Mayer AN
    Pediatr Res; 2008 Apr; 63(4):348-52. PubMed ID: 18356737
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.
    Kawakami T; Mitsui T; Kanai M; Shirahata E; Sendo D; Kanno M; Noro M; Endoh M; Hama A; Tono C; Ito E; Tsuchiya S; Igarashi Y; Abukawa D; Hayasaka K
    Tohoku J Exp Med; 2005 Jul; 206(3):253-9. PubMed ID: 15942154
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene.
    Toiviainen-Salo S; Raade M; Durie PR; Ip W; Marttinen E; Savilahti E; Mäkitie O
    J Pediatr; 2008 Mar; 152(3):434-6. PubMed ID: 18280855
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.
    Erdos M; Alapi K; Balogh I; Oroszlán G; Rákóczi E; Sümegi J; Maródi L
    Exp Hematol; 2006 Nov; 34(11):1517-21. PubMed ID: 17046571
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Breast cancer in a case of Shwachman Diamond syndrome.
    Singh SA; Vlachos A; Morgenstern NJ; Ouansafi I; Ip W; Rommens JM; Durie P; Shimamura A; Lipton JM
    Pediatr Blood Cancer; 2012 Nov; 59(5):945-6. PubMed ID: 22213587
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Bone marrow cells from patients with Shwachman-Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing.
    Rujkijyanont P; Adams SL; Beyene J; Dror Y
    Br J Haematol; 2009 Jun; 145(6):806-15. PubMed ID: 19438500
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.
    Myers KC; Rose SR; Rutter MM; Mehta PA; Khoury JC; Cole T; Harris RE
    J Pediatr; 2013 Jun; 162(6):1235-40, 1240.e1. PubMed ID: 23305959
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
    Nakashima E; Mabuchi A; Makita Y; Masuno M; Ohashi H; Nishimura G; Ikegawa S
    Hum Genet; 2004 Mar; 114(4):345-8. PubMed ID: 14749921
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Intermittent 20q- and consistent i(7q) in a patient with Shwachman-Diamond syndrome.
    Smith A; Shaw PJ; Webster B; Lammi A; Gaskin K; Diaz S; Sharma P
    Pediatr Hematol Oncol; 2002; 19(7):525-8. PubMed ID: 12217199
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Compound heterozygous mutations of the SBDS gene in a patient with Shwachman-Diamond syndrome, type 1 diabetes mellitus and osteoporosis.
    Rosendahl J; Teich N; Mossner J; Edelmann J; Koch CA
    Pancreatology; 2006; 6(6):549-54. PubMed ID: 17106217
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia.
    Black LV; Soltau T; Kelly DR; Berkow RL
    Pediatr Blood Cancer; 2008 Jul; 51(1):123-4. PubMed ID: 18322927
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
    Newman AR; Moghaddam B; Yoon JM
    J Pediatr Hematol Oncol; 2009 Nov; 31(11):847-9. PubMed ID: 19816210
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.