166 related articles for article (PubMed ID: 24484588)
1. 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]
2. Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.
Parikh S; Perdigones N; Paessler M; Greenbaum B; Tooke LS; Biegel JA; Mason PJ; Bessler M
Br J Haematol; 2012 Nov; 159(4):480-2. PubMed ID: 22934832
[No Abstract] [Full Text] [Related]
3. 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]
4. Translational medicine: ribosomopathies.
Narla A; Ebert BL
Blood; 2011 Oct; 118(16):4300-1. PubMed ID: 22021450
[No Abstract] [Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
Minelli A; Nacci L; Valli R; Pietrocola G; Ramenghi U; Locatelli F; Brescia L; Nicolis E; Cipolli M; Danesino C
Blood Cells Mol Dis; 2016 Sep; 60():33-5. PubMed ID: 27519942
[No Abstract] [Full Text] [Related]
9. 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]
10. 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]
11. Cytogenetic monitoring in Shwachman-Diamond syndrome: a note on clonal progression and a practical warning.
Pressato B; Valli R; Marletta C; Mare L; Montalbano G; Curto FL; Pasquali F; Maserati E
J Pediatr Hematol Oncol; 2015 May; 37(4):307-10. PubMed ID: 25887640
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A rare case: Shwachman-Diamond syndrome presenting with diabetic ketoacidosis.
Akdogan MF; Altay M; Denizli N; Gucun M; Tanrikulu S; Duranay M
Endocrine; 2011 Aug; 40(1):146-7. PubMed ID: 21448781
[No Abstract] [Full Text] [Related]
14. Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
Kawashima N; Oyarbide U; Cipolli M; Bezzerri V; Corey SJ
Haematologica; 2023 Oct; 108(10):2594-2605. PubMed ID: 37226705
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence.
Horne GA; Chevassut T
BMJ Case Rep; 2012 Nov; 2012():. PubMed ID: 23125299
[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. [Research progress of pathogenic mechanism of congenital neutropenia].
Wei W; Zhu XF
Zhonghua Er Ke Za Zhi; 2012 Nov; 50(11):868-71. PubMed ID: 23302623
[No Abstract] [Full Text] [Related]
20. [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]
[Next] [New Search]
