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Items: 1 to 20 of 138

1.

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
2.

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
3.

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
4.

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
5.

Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association?

Gana S, Sainati L, Frau MR, Monciotti C, Poli F, Cannioto Z, Comelli M, Danesino C, Minelli A.

Exp Clin Endocrinol Diabetes. 2011 Nov;119(10):610-2. doi: 10.1055/s-0031-1275699. Epub 2011 May 6.

PMID:
21553366
6.

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
7.

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.

8.

Shwachman-Diamond syndrome: diarrhea, no longer required?

Andolina JR, Morrison CB, Thompson AA, Chaudhury S, Mack AK, Proytcheva M, Corey SJ.

J Pediatr Hematol Oncol. 2013 Aug;35(6):486-9. doi: 10.1097/MPH.0b013e3182667c13.

9.

Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.

Nakaya T, Kurata A, Hashimoto H, Nishimata S, Kashiwagi Y, Fujita K, Kawashima H, Kuroda M.

Pathol Int. 2014 Feb;64(2):75-80. doi: 10.1111/pin.12133.

PMID:
24629175
10.

Mutation analysis of SBDS in pediatric acute myeloblastic leukemia.

Majeed F, Jadko S, Freedman MH, Dror Y.

Pediatr Blood Cancer. 2005 Dec;45(7):920-4.

PMID:
16007594
11.

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-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 Aug;54(8):558-566. doi: 10.1136/jmedgenet-2016-104366. Epub 2017 Mar 22.

PMID:
28331068
12.

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.

13.

Shwachman-Diamond syndrome with development of bone formation defects during prenatal life.

Beşer ÖF, Çokugras FC, Erkan T, Kutlu T, Adaletli I, Kuruğoğlu S.

J Pediatr Gastroenterol Nutr. 2014 Apr;58(4):e38-40. doi: 10.1097/MPG.0b013e318282994e. No abstract available.

PMID:
23254443
14.

Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome.

Sack JE, Kuchnir L, Demierre MF.

Pediatr Dermatol. 2011 Sep-Oct;28(5):568-9. doi: 10.1111/j.1525-1470.2010.01244.x. Epub 2010 Nov 12.

PMID:
21073512
15.

Hematologically important mutations: Shwachman-Diamond syndrome.

Costa E, Santos R.

Blood Cells Mol Dis. 2008 Mar-Apr;40(2):183-4. Epub 2007 Oct 4.

PMID:
17916435
16.

Shwachman-Diamond syndrome.

Dror Y.

Pediatr Blood Cancer. 2005 Dec;45(7):892-901. Review.

PMID:
16047374
17.

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
18.

Subglottic stenosis in Shwachman-Diamond syndrome - is there a link?

Keereweer S, Appel IM, Hoeve LJ.

Int J Pediatr Otorhinolaryngol. 2012 Oct;76(10):1531-2. doi: 10.1016/j.ijporl.2012.06.030. Epub 2012 Jul 18.

19.

Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: additional evidence of a brain phenotype.

Booij J, Reneman L, Alders M, Kuijpers TW.

Am J Med Genet A. 2013 Jan;161A(1):102-7. doi: 10.1002/ajmg.a.35687. Epub 2012 Dec 14.

PMID:
23239620
20.

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.

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