BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

123 related articles for article (PubMed ID: 19816210)

  • 1. 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]  

  • 2. 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]  

  • 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. The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function.
    Kerr EN; Ellis L; Dupuis A; Rommens JM; Durie PR
    J Pediatr; 2010 Mar; 156(3):433-8. PubMed ID: 19906387
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
    Nishimura G; Nakashima E; Hirose Y; Cole T; Cox P; Cohn DH; Rimoin DL; Lachman RS; Miyamoto Y; Kerr B; Unger S; Ohashi H; Superti-Furga A; Ikegawa S
    J Med Genet; 2007 Apr; 44(4):e73. PubMed ID: 17400792
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. [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]  

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

  • 11. 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]  

  • 12. [Shwachman-Diamond syndrome: clinical manifestations and molecular genetics].
    Erdos M; Maródi L
    Orv Hetil; 2007 Mar; 148(11):513-9. PubMed ID: 17350924
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Bone marrow transplantation in Shwachman-Diamond syndrome.
    Hsu JW; Vogelsang G; Jones RJ; Brodsky RA
    Bone Marrow Transplant; 2002 Aug; 30(4):255-8. PubMed ID: 12203143
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of an asymptomatic Shwachman-Bodian-Diamond syndrome mutation in a patient with acute myeloid leukemia.
    Shibata S; Inano S; Watanabe M; Fujiwara K; Ueno H; Nannya Y; Kanda J; Kawasaki N; Okamoto Y; Takiuchi Y; Fukunaga A; Tabata S; Ogawa S; Takaori-Kondo A; Kitano T
    Int J Hematol; 2022 Mar; 115(3):428-434. PubMed ID: 34704233
    [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. Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.
    Payne AS; Yan AC; Ilyas E; Li W; Seykora JT; Young TL; Pawel BR; Honig PJ; Camacho J; Imaizumi S; Heymann WR; Schnur RE
    Arch Dermatol; 2005 Dec; 141(12):1567-73. PubMed ID: 16365259
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome.
    Ip WF; Dupuis A; Ellis L; Beharry S; Morrison J; Stormon MO; Corey M; Rommens JM; Durie PR
    J Pediatr; 2002 Aug; 141(2):259-65. PubMed ID: 12183724
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.