Format
Sort by
Items per page

Send to

Choose Destination

Search Tip

Sort by Best Match to display results from highest to lowest relevance to your search terms.

Try it Now

Search results

Items: 1 to 20 of 420

1.

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and three novel SLC37A4 variants.

Skakic A, Djordjevic M, Sarajlija A, Klaassen K, Tosic N, Kecman B, Ugrin M, Spasovski V, Pavlovic S, Stojiljkovic M.

Clin Genet. 2017 Jul 7. doi: 10.1111/cge.13093. [Epub ahead of print]

PMID:
28685844
2.

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.

PMID:
28684451
3.

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
4.

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

Burroughs LM, Shimamura A, Talano JA, Domm J, Baker K, Delaney C, Frangoul H, Margolis D, Baker KS, Geddis A, Sandmaier BM, Deeg HJ, Storb R, Woolfrey AE.

Biol Blood Marrow Transplant. 2017 Jun 7. pii: S1083-8791(17)30511-6. doi: 10.1016/j.bbmt.2017.06.002. [Epub ahead of print]

PMID:
28602958
5.
6.

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 May 16. doi: 10.1002/pbc.26630. [Epub ahead of print]

PMID:
28509441
7.

Pancreatic Disorders.

Uc A, Fishman DS.

Pediatr Clin North Am. 2017 Jun;64(3):685-706. doi: 10.1016/j.pcl.2017.01.010. Review.

PMID:
28502446
8.

Bone mineral density in patients with inherited bone marrow failure syndromes.

Shankar RK, Giri N, Lodish MB, Sinaii N, Reynolds JC, Savage SA, Stratakis CA, Alter BP.

Pediatr Res. 2017 May 31. doi: 10.1038/pr.2017.117. [Epub ahead of print]

PMID:
28486441
9.

First experience of hematopoietic stem cell transplantation treatment of Shwachman-Diamond syndrome using unaffected HLA-matched sibling donor produced through preimplantation HLA typing.

Isaev AA, Deev RV, Kuliev A, Plaxa IL, Stancheva NV, Borovkova AS, Potapov IV, Pomerantseva EA, Chogovadze AG, Boyarsky KY, Semenenko AE, Mikhailov AV, Shevchenko KG, Prikhodko AV, Rechitsky S, Paina OV, Barchatov IM, Zubarovskaya LS, Verlinsky O, Bozo IY, Afanasyev BV.

Bone Marrow Transplant. 2017 Mar 27. doi: 10.1038/bmt.2017.46. [Epub ahead of print]

PMID:
28346418
10.

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome.

Stepensky P, Chacón-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Méndez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sánchez-Puig N, Elpeleg O.

J Med Genet. 2017 Mar 22. pii: jmedgenet-2016-104366. doi: 10.1136/jmedgenet-2016-104366. [Epub ahead of print]

PMID:
28331068
11.

The genomics of inherited bone marrow failure: from mechanism to the clinic.

Wegman-Ostrosky T, Savage SA.

Br J Haematol. 2017 May;177(4):526-542. doi: 10.1111/bjh.14535. Epub 2017 Feb 17. Review.

PMID:
28211564
12.

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
13.

Novel recurrent chromosome anomalies in Shwachman-Diamond syndrome.

Valli R, De Paoli E, Nacci L, Frattini A, Pasquali F, Maserati E.

Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26454. Epub 2017 Jan 28.

PMID:
28130858
14.

Biallelic mutations in <i>DNAJC21</i> cause Shwachman-Diamond syndrome.

Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y.

Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6. No abstract available.

PMID:
28062395
15.

Fluorescence Anisotropy as a Tool to Study Protein-protein Interactions.

Gijsbers A, Nishigaki T, Sánchez-Puig N.

J Vis Exp. 2016 Oct 21;(116). doi: 10.3791/54640.

PMID:
27805607
16.

Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.

Kalejaiye A, Giri N, Brewer CC, Zalewski CK, King KA, Adams CD, Rosenberg PS, Kim HJ, Alter BP.

Pediatr Blood Cancer. 2016 Dec;63(12):2139-2145. doi: 10.1002/pbc.26155. Epub 2016 Jul 18.

PMID:
27428025
17.

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
18.

Is a fatty pancreas a banal lesion?

Smereczyński A, Kołaczyk K.

J Ultrason. 2016 Sep;16(66):273-80. doi: 10.15557/JoU.2016.0027. Epub 2016 Sep 7. Review.

19.

Mesenchymal Inflammation Drives Genotoxic Stress in Hematopoietic Stem Cells and Predicts Disease Evolution in Human Pre-leukemia.

Zambetti NA, Ping Z, Chen S, Kenswil KJ, Mylona MA, Sanders MA, Hoogenboezem RM, Bindels EM, Adisty MN, Van Strien PM, van der Leije CS, Westers TM, Cremers EM, Milanese C, Mastroberardino PG, van Leeuwen JP, van der Eerden BC, Touw IP, Kuijpers TW, Kanaar R, van de Loosdrecht AA, Vogl T, Raaijmakers MH.

Cell Stem Cell. 2016 Nov 3;19(5):613-627. doi: 10.1016/j.stem.2016.08.021. Epub 2016 Sep 22.

PMID:
27666011
20.

New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes.

Bezzerri V, Vella A, Calcaterra E, Finotti A, Gasparello J, Gambari R, Assael BM, Cipolli M, Sorio C.

Sci Rep. 2016 Sep 23;6:33165. doi: 10.1038/srep33165.

Supplemental Content

Loading ...
Support Center