272 related articles for article (PubMed ID: 17046571)
1. 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]
2. 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]
3. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
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. [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]
8. 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]
9. Molecular characterisation of Tyr530Ser and IVS16-1G>T mutations causing severe factor V deficiency.
Zheng W; Liu Y; Luo Y; Chen Z; Wang Y; Zhang L; Gao G; Yao Z
Thromb Haemost; 2010 Sep; 104(3):536-43. PubMed ID: 20664902
[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. SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway.
Rujkijyanont P; Watanabe K; Ambekar C; Wang H; Schimmer A; Beyene J; Dror Y
Haematologica; 2008 Mar; 93(3):363-71. PubMed ID: 18268284
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Depletion of the Shwachman-Diamond syndrome gene product, SBDS, leads to growth inhibition and increased expression of OPG and VEGF-A.
Nihrane A; Sezgin G; Dsilva S; Dellorusso P; Yamamoto K; Ellis SR; Liu JM
Blood Cells Mol Dis; 2009; 42(1):85-91. PubMed ID: 19014892
[TBL] [Abstract][Full Text] [Related]
14. Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease.
Baronciani L; Federici AB; Cozzi G; La Marca S; Punzo M; Rubini V; Canciani MT; Mannucci PM
Haemophilia; 2008 May; 14(3):549-55. PubMed ID: 18328061
[TBL] [Abstract][Full Text] [Related]
15. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
Carvalho CM; Zuccherato LW; Williams CL; Neill NJ; Murdock DR; Bainbridge M; Jhangiani SN; Muzny DM; Gibbs RA; Ip W; Guillerman RP; Lupski JR; Bertuch AA
BMC Med Genet; 2014 Jun; 15():64. PubMed ID: 24898207
[TBL] [Abstract][Full Text] [Related]
16. A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.
Ikeda Y; Goji K; Takagi A
Clin Sci (Lond); 2000 Dec; 99(6):569-78. PubMed ID: 11099402
[TBL] [Abstract][Full Text] [Related]
17. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.
Edelheit O; Hanukoglu I; Gizewska M; Kandemir N; Tenenbaum-Rakover Y; Yurdakök M; Zajaczek S; Hanukoglu A
Clin Endocrinol (Oxf); 2005 May; 62(5):547-53. PubMed ID: 15853823
[TBL] [Abstract][Full Text] [Related]
18. Shwachman-Diamond syndrome.
Shimamura A
Semin Hematol; 2006 Jul; 43(3):178-88. PubMed ID: 16822460
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Phylogeny, sequence conservation, and functional complementation of the SBDS protein family.
Boocock GR; Marit MR; Rommens JM
Genomics; 2006 Jun; 87(6):758-71. PubMed ID: 16529906
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
