152 related articles for article (PubMed ID: 23239620)
1. 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]
2. 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]
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. 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]
5. Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis.
Cho WK; Jung IA; Kim J; Chae H; Kim M; Chung NG; Suh BK
Ann Lab Med; 2015 Mar; 35(2):269-71. PubMed ID: 25729736
[No Abstract] [Full Text] [Related]
6. Mesenchymal stromal cells from Shwachman-Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis.
Bardelli D; Dander E; Bugarin C; Cappuzzello C; Pievani A; Fazio G; Pierani P; Corti P; Farruggia P; Dufour C; Cesaro S; Cipolli M; Biondi A; D'Amico G
Br J Haematol; 2018 Jul; 182(1):114-124. PubMed ID: 29767474
[TBL] [Abstract][Full Text] [Related]
7. [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]
8. Dysplastic neutrophils in the bone marrow of a Shwachman-Diamond syndrome patient.
Lesesve JF; Broséus J
Blood; 2017 Jul; 130(1):96. PubMed ID: 28684451
[No Abstract] [Full Text] [Related]
9. [Pediatric Shwachman-diamond syndrome: report on 5 cases and literature review].
Wen XH; Xiao JW; Yu J; Xian Y; Guan XM; Guo YX
Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov; 15(11):970-4. PubMed ID: 24229590
[No Abstract] [Full Text] [Related]
10. Translational medicine: ribosomopathies.
Narla A; Ebert BL
Blood; 2011 Oct; 118(16):4300-1. PubMed ID: 22021450
[No Abstract] [Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis.
Pressato B; Valli R; Marletta C; Mare L; Montalbano G; Lo Curto F; Pasquali F; Maserati E
Br J Haematol; 2012 May; 157(4):503-5. PubMed ID: 22295858
[No Abstract] [Full Text] [Related]
17. Defective ribosome assembly in Shwachman-Diamond syndrome.
Wong CC; Traynor D; Basse N; Kay RR; Warren AJ
Blood; 2011 Oct; 118(16):4305-12. PubMed ID: 21803848
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back.
Liu JM; Lipton JM; Mani S
Ann N Y Acad Sci; 2011 Dec; 1242():26-39. PubMed ID: 22191554
[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]
