214 related articles for article (PubMed ID: 15284109)
1. 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]
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. 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]
6. 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]
7. 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]
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. 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]
10. [Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].
Shen J; Lin K; An Y; Wu YM; Qiao ZW; Yu H; Zhu QR; Zhang T
Zhonghua Er Ke Za Zhi; 2013 Sep; 51(9):679-83. PubMed ID: 24330988
[TBL] [Abstract][Full Text] [Related]
11. Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.
Tourlakis ME; Zhong J; Gandhi R; Zhang S; Chen L; Durie PR; Rommens JM
Gastroenterology; 2012 Aug; 143(2):481-92. PubMed ID: 22510201
[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. 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]
14. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R; Konantz M; Paillard C; Miao Z; Pichot A; Leduc MS; Yang Y; Bergstrom KL; Mahoney DH; Shardy DL; Alsaleh G; Naegely L; Kolmer A; Paul N; Hanauer A; Rolli V; Müller JS; Alghisi E; Sauteur L; Macquin C; Morlon A; Sancho CS; Amati-Bonneau P; Procaccio V; Mosca-Boidron AL; Marle N; Osmani N; Lefebvre O; Goetz JG; Unal S; Akarsu NA; Radosavljevic M; Chenard MP; Rialland F; Grain A; Béné MC; Eveillard M; Vincent M; Guy J; Faivre L; Thauvin-Robinet C; Thevenon J; Myers K; Fleming MD; Shimamura A; Bottollier-Lemallaz E; Westhof E; Lengerke C; Isidor B; Bahram S
J Clin Invest; 2017 Nov; 127(11):4090-4103. PubMed ID: 28972538
[TBL] [Abstract][Full Text] [Related]
15. Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs.
In K; Zaini MA; Müller C; Warren AJ; von Lindern M; Calkhoven CF
Nucleic Acids Res; 2016 May; 44(9):4134-46. PubMed ID: 26762974
[TBL] [Abstract][Full Text] [Related]
16. Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.
Orelio C; van der Sluis RM; Verkuijlen P; Nethe M; Hordijk PL; van den Berg TK; Kuijpers TW
PLoS One; 2011; 6(6):e20727. PubMed ID: 21695142
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
Burwick N; Coats SA; Nakamura T; Shimamura A
Blood; 2012 Dec; 120(26):5143-52. PubMed ID: 23115272
[TBL] [Abstract][Full Text] [Related]
19. Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia.
Aalbers AM; Calado RT; Young NS; Zwaan CM; Kajigaya S; Baruchel A; Geleijns K; de Haas V; Kaspers GJ; Reinhardt D; Trka J; Kuijpers TW; Pieters R; van der Velden VH; van den Heuvel-Eibrink MM
Br J Haematol; 2013 Feb; 160(4):559-61. PubMed ID: 23189942
[No Abstract] [Full Text] [Related]
20. Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.
Yamaguchi M; Fujimura K; Kanegane H; Toga-Yamaguchi H; Chopra R; Okamura N
Int J Hematol; 2011 Jul; 94(1):54-62. PubMed ID: 21660439
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
