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Items: 1 to 20 of 64

1.

Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation.

Lindsley RC, Saber W, Mar BG, Redd R, Wang T, Haagenson MD, Grauman PV, Hu ZH, Spellman SR, Lee SJ, Verneris MR, Hsu K, Fleischhauer K, Cutler C, Antin JH, Neuberg D, Ebert BL.

N Engl J Med. 2017 Feb 9;376(6):536-547. doi: 10.1056/NEJMoa1611604.

PMID:
28177873
2.

A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

Jivani N, Torrado-Jule C, Vaiselbuh S, Romanos-Sirakis E.

J Pediatr Endocrinol Metab. 2016 Nov 1;29(11):1325-1327. doi: 10.1515/jpem-2016-0299.

PMID:
27754968
3.

Recent advances in inherited bone marrow failure syndrome research.

Ito E, Toki T, Terui K.

Rinsho Ketsueki. 2016 Jul;57(7):882-90. doi: 10.11406/rinketsu.57.882.

PMID:
27498735
4.

Hereditary Predispositions to Myelodysplastic Syndrome.

Bannon SA, DiNardo CD.

Int J Mol Sci. 2016 May 30;17(6). pii: E838. doi: 10.3390/ijms17060838. Review.

5.

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.

Topa A, Tulinius M, Oldfors A, Hedberg-Oldfors C.

Am J Med Genet A. 2016 May;170A(5):1155-64. doi: 10.1002/ajmg.a.37593. Epub 2016 Feb 11.

PMID:
26866830
6.

Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation.

Ma C, Yan K, Tan D, Li N, Zhang Y, Yuan Y, Li Z, Dong MQ, Lei J, Gao N.

Protein Cell. 2016 Mar;7(3):187-200. doi: 10.1007/s13238-015-0242-5. Epub 2016 Feb 5.

7.

Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome.

Kanprasoet W, Jensen LT, Sriprach S, Thitiananpakorn K, Rattanapornsompong K, Jensen AN.

J Genet Genomics. 2015 Dec 20;42(12):671-84. doi: 10.1016/j.jgg.2015.09.004. Epub 2015 Sep 25.

PMID:
26743985
8.

Mechanism of eIF6 release from the nascent 60S ribosomal subunit.

Weis F, Giudice E, Churcher M, Jin L, Hilcenko C, Wong CC, Traynor D, Kay RR, Warren AJ.

Nat Struct Mol Biol. 2015 Nov;22(11):914-9. doi: 10.1038/nsmb.3112. Epub 2015 Oct 19.

9.

Differential expression of ribosomal proteins in myelodysplastic syndromes.

Rinker EB, Dueber JC, Qualtieri J, Tedesco J, Erdogan B, Bosompem A, Kim AS.

J Clin Pathol. 2016 Feb;69(2):176-80. doi: 10.1136/jclinpath-2015-203093. Epub 2015 Sep 25.

PMID:
26408650
10.

The antimicrobial propeptide hCAP-18 plasma levels in neutropenia of various aetiologies: a prospective study.

Ye Y, Carlsson G, Karlsson-Sjöberg JM, Borregaard N, Modéer TU, Andersson ML, Pütsep KL.

Sci Rep. 2015 Jun 29;5:11685. doi: 10.1038/srep11685.

11.

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. doi: 10.1111/jpc.12941. Epub 2015 Jun 17.

PMID:
26081292
12.

Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.

García-Márquez A, Gijsbers A, de la Mora E, Sánchez-Puig N.

J Biol Chem. 2015 Jul 17;290(29):17669-78. doi: 10.1074/jbc.M114.626275. Epub 2015 May 19.

13.

Immune status of patients with inherited bone marrow failure syndromes.

Giri N, Alter BP, Penrose K, Falk RT, Pan Y, Savage SA, Williams M, Kemp TJ, Pinto LA.

Am J Hematol. 2015 Aug;90(8):702-8. doi: 10.1002/ajh.24046. Epub 2015 May 28.

14.

Aggressive Myeloid Sarcoma Causing Recurrent Spinal Cord Compression.

Joseph JR, Wilkinson DA, Bailey NG, Lieberman AP, Tsien CI, Orringer DA.

World Neurosurg. 2015 Sep;84(3):866.e7-10. doi: 10.1016/j.wneu.2015.04.017. Epub 2015 Apr 15.

PMID:
25888811
15.

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
16.

Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients.

Morini J, Babini G, Mariotti L, Baiocco G, Nacci L, Maccario C, Rößler U, Minelli A, Savio M, Gomolka M, Kulka U, Ottolenghi A, Danesino C.

Radiat Prot Dosimetry. 2015 Sep;166(1-4):95-100. doi: 10.1093/rpd/ncv152. Epub 2015 Apr 12.

PMID:
25870433
17.

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 Feb 27;7:721-31. doi: 10.1016/j.nicl.2015.02.014. eCollection 2015.

18.

Nutritional status in children with Shwachman-diamond syndrome.

Pichler J, Meyer R, Köglmeier J, Ancliff P, Shah N.

Pancreas. 2015 May;44(4):590-5. doi: 10.1097/MPA.0000000000000291.

PMID:
25742431
19.

Abnormal circumferential strain measured by echocardiography is present in patients with Shwachman-Diamond syndrome despite normal shortening fraction.

Ryan TD, Jefferies JL, Chin C, Sticka JJ, Taylor MD, Harris R, Moore J, Goodridge E, Mount L, Bolyard AA, Otto B, Jones A, Shimamura A, Davies S, Myers K.

Pediatr Blood Cancer. 2015 Jul;62(7):1228-31. doi: 10.1002/pbc.25456. Epub 2015 Mar 2.

20.

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. doi: 10.3343/alm.2015.35.2.269. Epub 2015 Feb 12. No abstract available.

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