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Best matches for shwachman diamond syndrome:

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Items: 1 to 20 of 466

1.

Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old.

Cipolli M, Tridello G, Micheletto A, Perobelli S, Pintani E, Cesaro S, Maserati E, Nicolis E, Danesino C; Italian Registry Organization.

BMJ Open. 2019 Jan 17;9(1):e022617. doi: 10.1136/bmjopen-2018-022617.

2.

Cooperative energetic effects elicited by the yeast Shwachman-Diamond syndrome protein (Sdo1) and guanine nucleotides modulate the complex conformational landscape of the elongation factor-like 1 (Efl1) GTPase.

Luviano A, Cruz-Castañeda R, Sánchez-Puig N, García-Hernández E.

Biophys Chem. 2019 Feb 13;247:13-24. doi: 10.1016/j.bpc.2019.02.003. [Epub ahead of print]

PMID:
30780079
3.

Successful tracheal intubation using videolaryngoscope in Shwachman-Diamond syndrome patient combined with congenital epidermolysis bullosa.

Noda Y, Komasawa N, Matsunami S, Minami T.

J Clin Anesth. 2019 Jan 22;56:27. doi: 10.1016/j.jclinane.2019.01.033. [Epub ahead of print] No abstract available.

PMID:
30684918
4.

Transient Exocrine Pancreatic Insufficiency in Children: An Existing Entity?

Garah J, Rosen I, Shaoul R.

J Pediatr Gastroenterol Nutr. 2019 Jan 8. doi: 10.1097/MPG.0000000000002267. [Epub ahead of print]

PMID:
30633105
5.

Peripheral blood immunophenotyping in a large cohort of patients with Shwachman-Diamond syndrome.

Bezzerri V, Vella A, Gennaro GD, Ortolani R, Nicolis E, Cesaro S, Fabrizzi B, Bronte V, Corey SJ, Cipolli M.

Pediatr Blood Cancer. 2019 Jan 2:e27597. doi: 10.1002/pbc.27597. [Epub ahead of print]

PMID:
30604473
6.

Shwachman-Diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: haematological features, prognosis and genomic instability.

Valli R, Minelli A, Galbiati M, D'Amico G, Frattini A, Montalbano G, Khan AW, Porta G, Millefanti G, Olivieri C, Cipolli M, Cesaro S, Pasquali F, Danesino C, Cazzaniga G, Maserati E.

Br J Haematol. 2018 Dec 26. doi: 10.1111/bjh.15729. [Epub ahead of print]

PMID:
30585299
7.

Genetics for understanding the clinical features of Shwachman-Diamond Syndrome.

Nacci L.

Br J Haematol. 2019 Mar;184(5):710-711. doi: 10.1111/bjh.15726. Epub 2018 Dec 21. No abstract available.

PMID:
30575022
8.

Peering through zebrafish to understand inherited bone marrow failure syndromes.

Oyarbide U, Topczewski J, Corey SJ.

Haematologica. 2019 Jan;104(1):13-24. doi: 10.3324/haematol.2018.196105. Epub 2018 Dec 20. Review.

9.

Acquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications.

Kallen ME, Dulau-Florea A, Wang W, Calvo KR.

Semin Hematol. 2019 Jan;56(1):69-82. doi: 10.1053/j.seminhematol.2018.05.016. Epub 2018 Jun 23. Review.

PMID:
30573048
10.

Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.

Gijsbers A, Montagut DC, Méndez-Godoy A, Altamura D, Saviano M, Siliqi D, Sánchez-Puig N.

Int J Mol Sci. 2018 Dec 12;19(12). pii: E4012. doi: 10.3390/ijms19124012.

11.

Translating the Game: Ribosomes as Active Players.

Calamita P, Gatti G, Miluzio A, Scagliola A, Biffo S.

Front Genet. 2018 Nov 15;9:533. doi: 10.3389/fgene.2018.00533. eCollection 2018. Review.

12.

Mechanisms of leukemic transformation in congenital neutropenia.

Link DC.

Curr Opin Hematol. 2019 Jan;26(1):34-40. doi: 10.1097/MOH.0000000000000479.

PMID:
30431463
13.

Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.

Bezzerri V, Cipolli M.

Mol Diagn Ther. 2018 Nov 9. doi: 10.1007/s40291-018-0368-2. [Epub ahead of print] Review.

PMID:
30413969
14.

Shwachman-Diamond Syndrome.

Nelson A, Myers K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Jul 17 [updated 2018 Oct 18].

15.

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
16.

Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.

Morini J, Nacci L, Babini G, Cesaro S, Valli R, Ottolenghi A, Nicolis E, Pintani E, Maserati E, Cipolli M, Danesino C, Scotti C, Minelli A.

Br J Haematol. 2018 Sep 10. doi: 10.1111/bjh.15594. [Epub ahead of print] No abstract available.

PMID:
30198570
17.

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
18.

A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia.

Barış Z, Özçay F, Olcay L, Ceylaner S, Sezer T.

J Pediatr Genet. 2018 Sep;7(3):117-121. doi: 10.1055/s-0038-1636997. Epub 2018 Mar 7.

PMID:
30105119
19.

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
20.

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

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