322 related articles for article (PubMed ID: 16867904)
1. 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]
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. [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]
4. 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]
5. 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]
6. 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]
7. [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]
8. Shwachman-Diamond syndrome: UK perspective.
Hall GW; Dale P; Dodge JA
Arch Dis Child; 2006 Jun; 91(6):521-4. PubMed ID: 16714727
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Shwachman-Diamond syndrome.
Dror Y
Pediatr Blood Cancer; 2005 Dec; 45(7):892-901. PubMed ID: 16047374
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.
Han X; Lu S; Gu C; Bian Z; Xie X; Qiao X
BMC Pediatr; 2023 Oct; 23(1):503. PubMed ID: 37803383
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. [Diagnosis and treatment of Shwachman-Diamond syndrome in Chinese children: An evidence-based study].
Han X; Shen T; Gu C; Qiao X; Xie X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):939-946. PubMed ID: 37532492
[TBL] [Abstract][Full Text] [Related]
16. Shwachman-Diamond syndrome with development of bone formation defects during prenatal life.
Beşer ÖF; Çokugras FC; Erkan T; Kutlu T; Adaletli I; Kuruğoğlu S
J Pediatr Gastroenterol Nutr; 2014 Apr; 58(4):e38-40. PubMed ID: 23254443
[No Abstract] [Full Text] [Related]
17. The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.
Delaporta P; Sofocleous C; Economou M; Makis A; Kostaridou S; Kattamis A
Pediatr Blood Cancer; 2017 Nov; 64(11):. PubMed ID: 28509441
[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. Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome.
Mercuri A; Cannata E; Perbellini O; Cugno C; Balter R; Zaccaron A; Tridello G; Pizzolo G; De Bortoli M; Krampera M; Cipolli M; Cesaro S
Eur J Haematol; 2015 Oct; 95(4):308-15. PubMed ID: 25402872
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
