Research Articles PDF Print E-mail

There have been 312 published articles since 1971. Very exciting! Even though we are involved with such a rare disease, there are researchers who have been working on it for a very long time!! It is important to support this research community. Some link through to an abstract and some don't. Here is the link to the Pub Med site, a part of the U.S. Library of National Medicine, National Institutes of Health for you to peruse the other articles as well. www.ncbi.nlm.nih.gov/pubmed and type Shwachman Diamond Syndrome into their search bar. Or just click here  Here are articles from September '11 - October '12

Shwachman-Diamond Syndrome: Are we Missing Many?

Kathuria R, Poddar U, Yachha SK., Indian Pediatr. 2012 Sep 8;49(9):748-9.


Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.

Sezgin G, Henson AL, Nihrane A, Singh S, Wattenberg M, Alard P, Ellis SR, Liu JM.

Pediatr Blood Cancer. 2012 Sep 19. doi: 10.1002/pbc.24300. [Epub ahead of print]


A clinical algorithm predicts hematological complications in Shwachman-Diamond syndrome?

Liu JM., Expert Rev Hematol. 2012 Aug;5(4):373-5. PMID: 22992231

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. 2012 Aug 29. [Epub ahead of print] PMID: 22935661

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 Aug 31. doi: 10.1111/bjh.12032. [Epub ahead of print] No abstract available. PMID: 22934832

Incidence of Shwachman-Diamond syndrome.

Minelli A, Nicolis E, Cannioto Z, Longoni D, Perobelli S, Pasquali F, Sainati L, Poli F, Cipolli M, Danesino C. Pediatr Blood Cancer. 2012 Dec 15;59(7):1334-5. doi: 10.1002/pbc.24260. Epub 2012 Aug 8. No abstract available. PMID: 22887728

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. PMID: 22818180

Alterations in the ribosomal machinery in cancer and hematologic disorders.

Shenoy N, Kessel R, Bhagat TD, Bhattacharyya S, Yu Y, McMahon C, Verma A.

J Hematol Oncol. 2012 Jun 18;5:32. PMID: 22709827

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome).

Keogh SJ, McKee S, Smithson SF, Grier D, Steward CG. BMC Pediatr. 2012 May 3;12:48.

PMID: 22554078

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. Epub 2012 Apr 14. PMID: 22510201

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.

Donadieu J, Fenneteau O, Beaupain B, Beaufils S, Bellanger F, Mahlaoui N, Lambilliotte A, Aladjidi N, Bertrand Y, Mialou V, Perot C, Michel G, Fouyssac F, Paillard C, Gandemer V, Boutard P, Schmitz J, Morali A, Leblanc T, Bellanné-Chantelot C; the associated investigators of the French Severe Chronic Neutropenia Registry*. Haematologica. 2012 Sep;97(9):1312-1319. Epub 2012 Apr 4. PMID: 22491737

Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients.

Perobelli S, Nicolis E, Assael BM, Cipolli M. Am J Med Genet A. 2012 Mar;158A(3):567-73. doi: 10.1002/ajmg.a.35211. Epub 2012 Feb 7. PMID: 22315206

Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis.

Pressato B, Valli R, Marletta C, Mare L, Montalbano G, Lo Curto F, Pasquali F, Maserati E.

Br J Haematol. 2012 May;157(4):503-5. doi: 10.1111/j.1365-2141.2012.09033.x. Epub 2012 Feb 1. No abstract available. PMID: 22295858

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. Epub 2012 Jan 22. PMID: 22271888

Recent insights into inherited bone marrow failure syndromes.

Parikh S, Bessler M.

Curr Opin Pediatr. 2012 Feb;24(1):23-32. Review. PMID: 22227778

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

Shwachman-Diamond syndrome.

Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P.

Musculoskelet Surg. 2012 Aug;96(2):81-8. Epub 2011 Dec 27. PMID: 22201042

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM.

Ann N Y Acad Sci. 2011 Dec;1242:40-55. doi: 10.1111/j.1749-6632.2011.06349.x.

PMID: 22191555

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

Lymphoma in a case of Shwachman-Diamond syndrome: PET/CT findings.

Verbrugge J, Tulchinsky M. Clin Nucl Med. 2012 Jan;37(1):74-6. No abstract available.

PMID: 22157033

Translational control by 80S formation and 60S availability: the central role of eIF6, a rate limiting factor in cell cycle progression and tumorigenesis.

Brina D, Grosso S, Miluzio A, Biffo S. Cell Cycle. 2011 Oct 15;10(20):3441-6. Epub 2011 Oct 15. Review. PMID: 22031223

Translational medicine: ribosomopathies.

Narla A, Ebert BL. Blood. 2011 Oct 20;118(16):4300-1. No abstract available. PMID: 22021450

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

The ribosome-related protein, SBDS, is critical for normal erythropoiesis.

Sen S, Wang H, Nghiem CL, Zhou K, Yau J, Tailor CS, Irwin MS, Dror Y.

Blood. 2011 Dec 8;118(24):6407-17. Epub 2011 Sep 30. PMID: 21963601

Selected disorders of malabsorption.

Siddiqui Z, Osayande AS. Prim Care. 2011 Sep;38(3):395-414; vii. Review. PMID: 21872088

Click here for a listing of older articles (.pdf)