These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

91 related articles for article (PubMed ID: 17376717)

  • 1. Identification of a novel AluSx-mediated deletion of exon 3 in the SBDS gene in a patient with Shwachman-Diamond syndrome.
    Costa E; Duque F; Oliveira J; Garcia P; Gonçalves I; Diogo L; Santos R
    Blood Cells Mol Dis; 2007; 39(1):96-101. PubMed ID: 17376717
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
    Minelli A; Nacci L; Valli R; Pietrocola G; Ramenghi U; Locatelli F; Brescia L; Nicolis E; Cipolli M; Danesino C
    Blood Cells Mol Dis; 2016 Sep; 60():33-5. PubMed ID: 27519942
    [No Abstract]   [Full Text] [Related]  

  • 10. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.
    Ganapathi KA; Austin KM; Lee CS; Dias A; Malsch MM; Reed R; Shimamura A
    Blood; 2007 Sep; 110(5):1458-65. PubMed ID: 17475909
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
    Woloszynek JR; Rothbaum RJ; Rawls AS; Minx PJ; Wilson RK; Mason PJ; Bessler M; Link DC
    Blood; 2004 Dec; 104(12):3588-90. PubMed ID: 15284109
    [TBL] [Abstract][Full Text] [Related]  

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

  • 13. Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.
    Kuijpers TW; Nannenberg E; Alders M; Bredius R; Hennekam RC
    Pediatrics; 2004 Sep; 114(3):e387-91. PubMed ID: 15342903
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.
    Venet T; Masson E; Talbotec C; Billiemaz K; Touraine R; Gay C; Destombe S; Cooper DN; Patural H; Chen JM; Férec C
    Hum Mutat; 2017 Dec; 38(12):1660-1665. PubMed ID: 28945313
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Parental origin of the deletion del(20q) in Shwachman-Diamond patients and loss of the paternally derived allele of the imprinted L3MBTL1 gene.
    Nacci L; Valli R; Maria Pinto R; Zecca M; Cipolli M; Morini J; Cesaro S; Boveri E; Rosti V; Corti P; Ambroni M; Pasquali F; Danesino C; Maserati E; Minelli A
    Genes Chromosomes Cancer; 2017 Jan; 56(1):51-58. PubMed ID: 27553422
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.
    Tamary H; Dgany O; Toledano H; Shalev Z; Krasnov T; Shalmon L; Schechter T; Bercovich D; Attias D; Laor R; Koren A; Yaniv I
    Eur J Haematol; 2004 May; 72(5):330-5. PubMed ID: 15059067
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome.
    Minelli A; Maserati E; Nicolis E; Zecca M; Sainati L; Longoni D; Lo Curto F; Menna G; Poli F; De Paoli E; Cipolli M; Locatelli F; Pasquali F; Danesino C
    Leukemia; 2009 Apr; 23(4):708-11. PubMed ID: 19148133
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [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]  

  • 20. A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.
    Spinetti E; Delre P; Saviano M; Siliqi D; Lattanzi G; Mangiatordi GF
    Int J Mol Sci; 2022 Jul; 23(14):. PubMed ID: 35887285
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.