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Items: 1 to 20 of 67

1.

Clinical Characteristics and Genetic Causes of Infantile Exocrine Pancreatic Insufficiency in Chinese Patients: Study From a Tertiary Care Center.

Ye Z, Zhou Y, Huang Y, Sun H, Wang H, Wu B.

Pancreas. 2018 Nov/Dec;47(10):1344-1349. doi: 10.1097/MPA.0000000000001185.

PMID:
30308536
2.

Can treatment of malabsorption in Shwachman-Diamond syndrome improve prognosis?

Murakami J.

Pediatr Int. 2018 Aug;60(8):683. doi: 10.1111/ped.13657. No abstract available.

PMID:
30160037
3.

Shwachman-Diamond syndrome: a case report.

Kaabar M, Lemaire P, Cussac V, Besancon A, Martin-Coignard D, Fenneteau O, Laribi K, Pineau-Vincent F.

Ann Biol Clin (Paris). 2018 Aug 1;76(4):435-438. doi: 10.1684/abc.2018.1358.

PMID:
30078780
4.

Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome.

Nelson AS, Myers KC.

Hematol Oncol Clin North Am. 2018 Aug;32(4):687-700. doi: 10.1016/j.hoc.2018.04.006. Epub 2018 Jun 5. Review.

PMID:
30047420
5.

The histopathology of bone marrow failure in children.

Iwafuchi H.

J Clin Exp Hematop. 2018;58(2):68-86. doi: 10.3960/jslrt.18018. Review.

6.

Shwachman-Diamond syndrome: Nationwide survey and systematic review in Japan.

Ikuse T, Kudo T, Arai K, Fujii Y, Ida S, Ishii T, Mushiake S, Nagata K, Tamai H, Toki A, Tomomasa T, Ushijima K, Yanagi T, Yonekura T, Taguchi T, Shimizu T.

Pediatr Int. 2018 Aug;60(8):719-726. doi: 10.1111/ped.13601. Epub 2018 Jul 10. Review.

PMID:
29804317
7.

Diagnostic and prognostic implications of ribosomal protein transcript expression patterns in human cancers.

Dolezal JM, Dash AP, Prochownik EV.

BMC Cancer. 2018 Mar 12;18(1):275. doi: 10.1186/s12885-018-4178-z.

8.

Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia.

Sonoda M, Ishimura M, Ichimiya Y, Terashi E, Eguchi K, Sakai Y, Takada H, Hama A, Kanno H, Toki T, Ito E, Ohga S.

Int J Hematol. 2018 Aug;108(2):228-231. doi: 10.1007/s12185-018-2424-4. Epub 2018 Feb 23. Erratum in: Int J Hematol. 2018 Jul 2;:.

PMID:
29476317
9.

Quantum Language of MicroRNA: Application for New Cancer Therapeutic Targets.

Fujii YR.

Methods Mol Biol. 2018;1733:145-157. doi: 10.1007/978-1-4939-7601-0_12.

PMID:
29435930
10.

Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

Alter BP.

Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):88-95. doi: 10.1182/asheducation-2017.1.88. Review.

11.

Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes.

West AH, Churpek JE.

Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):79-87. doi: 10.1182/asheducation-2017.1.79. Review.

12.

Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

Alter BP.

Blood. 2017 Nov 23;130(21):2257-2264. doi: 10.1182/blood-2017-05-781799. Review.

13.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S.

J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3.

14.

Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.

Venet T, Masson E, Talbotec C, Billiemaz K, Touraine R, Gay C, Destombe S, Cooper DN, Patural H, Chen JM, Férec C.

Hum Mutat. 2017 Dec;38(12):1660-1665. doi: 10.1002/humu.23343. Epub 2017 Oct 12.

PMID:
28945313
15.

Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history.

Donadieu J, Beaupain B, Fenneteau O, Bellanné-Chantelot C.

Br J Haematol. 2017 Nov;179(4):557-574. doi: 10.1111/bjh.14887. Epub 2017 Sep 6. Review.

PMID:
28875503
16.

Multiple and Bilateral Cilioretinal Arteries with Shwachman-Diamond Syndrome.

Breazzano MP, Benegas NM.

Ophthalmology. 2017 Sep;124(9):1352. doi: 10.1016/j.ophtha.2017.02.028. No abstract available.

PMID:
28823349
17.

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes.

Giri N, Reed HD, Stratton P, Savage SA, Alter BP.

Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26757. Epub 2017 Aug 12.

PMID:
28801981
18.

Dysplastic neutrophils in the bone marrow of a Shwachman-Diamond syndrome patient.

Lesesve JF, Broséus J.

Blood. 2017 Jul 6;130(1):96. doi: 10.1182/blood-2017-03-773846. No abstract available.

19.

Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.

Savage SA, Dufour C.

Semin Hematol. 2017 Apr;54(2):105-114. doi: 10.1053/j.seminhematol.2017.04.004. Epub 2017 Apr 7. Review.

PMID:
28637614
20.

Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders.

Burroughs LM, Shimamura A, Talano JA, Domm JA, Baker KK, Delaney C, Frangoul H, Margolis DA, Baker KS, Nemecek ER, Geddis AE, Sandmaier BM, Deeg HJ, Storb R, Woolfrey AE.

Biol Blood Marrow Transplant. 2017 Oct;23(10):1669-1677. doi: 10.1016/j.bbmt.2017.06.002. Epub 2017 Jun 7.

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