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Items: 1 to 20 of 132

1.

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. doi: 10.1111/bjh.12032. Epub 2012 Aug 31. No abstract available.

2.

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. doi: 10.1111/bjh.12767. Epub 2014 Feb 1. No abstract available.

PMID:
24484588
3.

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. doi: 10.1097/MPH.0000000000000268.

PMID:
25887640
4.

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. doi: 10.1111/j.1365-2141.2012.09033.x. Epub 2012 Feb 1. No abstract available.

PMID:
22295858
5.

Translational medicine: ribosomopathies.

Narla A, Ebert BL.

Blood. 2011 Oct 20;118(16):4300-1. doi: 10.1182/blood-2011-08-372250. No abstract available.

6.

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. doi: 10.1007/s12020-011-9460-7. No abstract available.

PMID:
21448781
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. doi: 10.3324/haematol.2011.048462. Epub 2012 Jan 22.

8.

[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. Review. Chinese. No abstract available.

9.

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, B├ętard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM.

Am J Hum Genet. 2001 Apr;68(4):1048-54. Epub 2001 Mar 15.

10.

Impaired ribosomal subunit association in Shwachman-Diamond syndrome.

Burwick N, Coats SA, Nakamura T, Shimamura A.

Blood. 2012 Dec 20;120(26):5143-52. doi: 10.1182/blood-2012-04-420166. Epub 2012 Oct 31.

11.

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. doi: 10.1053/j.gastro.2012.04.012. Epub 2012 Apr 14.

PMID:
22510201
12.

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. doi: 10.1111/j.1749-6632.2011.06348.x. Erratum in: Ann N Y Acad Sci. 2012 Jan;1247:153.

PMID:
22191554
13.

Incidence of Shwachman-Diamond syndrome.

Minelli A, Nicolis E, Cannioto Z, Longoni D, Perobelli S, Pasquali F, Sainati L, Poli F, Cipolli M, Danesino C.

Pediatr Blood Cancer. 2012 Dec 15;59(7):1334-5. doi: 10.1002/pbc.24260. Epub 2012 Aug 8. No abstract available.

PMID:
22887728
14.

Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome.

Dhanraj S, Manji A, Pinto D, Scherer SW, Favre H, Loh ML, Chetty R, Wei AC, Dror Y.

Pediatr Blood Cancer. 2013 May;60(5):754-60. doi: 10.1002/pbc.24453. Epub 2013 Jan 9.

PMID:
23303473
15.

Shwachman-Diamond syndrome in India.

Jha AK, Bansal D, Sharda S, Ray P, Steele L, Varma N, Saxena AK, Marwaha RK.

Pediatr Blood Cancer. 2012 Mar;58(3):479-80. doi: 10.1002/pbc.23332. Epub 2011 Oct 11. No abstract available.

PMID:
21990229
16.

Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study.

Dror Y, Durie P, Ginzberg H, Herman R, Banerjee A, Champagne M, Shannon K, Malkin D, Freedman MH.

Exp Hematol. 2002 Jul;30(7):659-69.

PMID:
12135662
17.

Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.

Burwick N, Shimamura A, Liu JM.

Semin Hematol. 2011 Apr;48(2):136-43. doi: 10.1053/j.seminhematol.2011.01.002. Review.

18.

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. doi: 10.1002/pbc.24052. Epub 2011 Dec 27.

PMID:
22213587
19.

Defective ribosome assembly in Shwachman-Diamond syndrome.

Wong CC, Traynor D, Basse N, Kay RR, Warren AJ.

Blood. 2011 Oct 20;118(16):4305-12. doi: 10.1182/blood-2011-06-353938. Epub 2011 Jul 29.

20.

Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence.

Horne GA, Chevassut T.

BMJ Case Rep. 2012 Nov 1;2012. pii: bcr2012007305. doi: 10.1136/bcr-2012-007305.

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