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2. Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. Perobelli S; Alessandrini F; Zoccatelli G; Nicolis E; Beltramello A; Assael BM; Cipolli M Neuroimage Clin; 2015; 7():721-31. PubMed ID: 25844324 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. Dilated cardiomyopathy in a case of Shwachman-Diamond syndrome. Kopel L; Gutierrez PS; Lage SG Cardiol Young; 2011 Oct; 21(5):588-90. PubMed ID: 21486516 [TBL] [Abstract][Full Text] [Related]
5. Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome. Sack JE; Kuchnir L; Demierre MF Pediatr Dermatol; 2011; 28(5):568-9. PubMed ID: 21073512 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature. Navasardyan LV; Furlan I; Brandt S; Schulz A; Wabitsch M; Denzer C Ital J Pediatr; 2023 Aug; 49(1):98. PubMed ID: 37580732 [TBL] [Abstract][Full Text] [Related]
8. A case of co-occurring acute myeloid leukemia and relapsed diffuse large B-cell lymphoma in a young adult with Shwachman-Diamond syndrome. LeBlanc FR; Grier DD; Myers KC; Shimamura A; Pommert L Pediatr Blood Cancer; 2024 Aug; 71(8):e31137. PubMed ID: 38837649 [No Abstract] [Full Text] [Related]
9. 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]
10. 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]
11. Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction. Tulpule A; Kelley JM; Lensch MW; McPherson J; Park IH; Hartung O; Nakamura T; Schlaeger TM; Shimamura A; Daley GQ Cell Stem Cell; 2013 Jun; 12(6):727-36. PubMed ID: 23602541 [TBL] [Abstract][Full Text] [Related]
12. 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]
14. Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome. Nacci L; Danesino C; Sainati L; Longoni D; Poli F; Cipolli M; Perobelli S; Nicolis E; Cannioto Z; Morini J; Valli R; Pasquali F; Minelli A Br J Haematol; 2014 May; 165(4):573-5. PubMed ID: 24484588 [No Abstract] [Full Text] [Related]
15. Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells. Bezzerri V; Bardelli D; Morini J; Vella A; Cesaro S; Sorio C; Biondi A; Danesino C; Farruggia P; Assael BM; D'amico G; Cipolli M Am J Hematol; 2018 Aug; 93(4):527-536. PubMed ID: 29285795 [TBL] [Abstract][Full Text] [Related]
16. Atrioventricular septal defect in a case of Shwachman-Diamond syndrome. Le Gloan L; Blin N; Langlard JM Cardiol Young; 2014 Jun; 24(3):549-51. PubMed ID: 23803361 [TBL] [Abstract][Full Text] [Related]