210 related articles for article (PubMed ID: 32293785)
1. Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
Furutani E; Shah AS; Zhao Y; Andorsky D; Dedeoglu F; Geddis A; Zhou Y; Libermann TA; Myers KC; Shimamura A
Am J Med Genet A; 2020 Jul; 182(7):1754-1760. PubMed ID: 32293785
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome.
Nelson AS; Myers KC
Hematol Oncol Clin North Am; 2018 Aug; 32(4):687-700. PubMed ID: 30047420
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. [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]
7. 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]
8. Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome.
Necchi V; Minelli A; Sommi P; Vitali A; Caruso R; Longoni D; Frau MR; Nasi C; De Gregorio F; Zecca M; Ricci V; Danesino C; Solcia E
Haematologica; 2012 Jul; 97(7):1057-63. PubMed ID: 22271888
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
Myers KC; Bolyard AA; Otto B; Wong TE; Jones AT; Harris RE; Davies SM; Dale DC; Shimamura A
J Pediatr; 2014 Apr; 164(4):866-70. PubMed ID: 24388329
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype.
Booij J; Reneman L; Alders M; Kuijpers TW
Am J Med Genet A; 2013 Jan; 161A(1):102-7. PubMed ID: 23239620
[TBL] [Abstract][Full Text] [Related]
13. Shwachman-Diamond syndrome (SDS) in a preterm neonate.
Saito-Benz M; Miller HE; Berry MJ
J Paediatr Child Health; 2015 Dec; 51(12):1228-31. PubMed ID: 26081292
[TBL] [Abstract][Full Text] [Related]
14. Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
Bezzerri V; Cipolli M
Mol Diagn Ther; 2019 Apr; 23(2):281-290. PubMed ID: 30413969
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Further evidence for the involvement of
Tan QK; Cope H; Spillmann RC; Stong N; Jiang YH; McDonald MT; Rothman JA; Butler MW; Frush DP; Lachman RS; Lee B; Bacino CA; Bonner MJ; McCall CM; Pendse AA; Walley N; ; Shashi V; Pena LDM
Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 29970384
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Shwachman-Diamond syndrome: diarrhea, no longer required?
Andolina JR; Morrison CB; Thompson AA; Chaudhury S; Mack AK; Proytcheva M; Corey SJ
J Pediatr Hematol Oncol; 2013 Aug; 35(6):486-9. PubMed ID: 22935661
[TBL] [Abstract][Full Text] [Related]
20. Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.
Myers KC; Davies SM; Shimamura A
Hematol Oncol Clin North Am; 2013 Feb; 27(1):117-28, ix. PubMed ID: 23351992
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
