162 related articles for article (PubMed ID: 35322185)
21. 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. PubMed ID: 22191555
[TBL] [Abstract][Full Text] [Related]
22. Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence.
Horne GA; Chevassut T
BMJ Case Rep; 2012 Nov; 2012():. PubMed ID: 23125299
[TBL] [Abstract][Full Text] [Related]
23. 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. PubMed ID: 22510201
[TBL] [Abstract][Full Text] [Related]
24. Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
Scalais E; Connerotte AC; Despontin K; Biver A; Ceuterick-de Groote C; Alders M; Kolivras A; Hachem JP; De Meirleir L
Am J Med Genet A; 2016 Jul; 170(7):1799-805. PubMed ID: 27127007
[TBL] [Abstract][Full Text] [Related]
25. Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.
Navasardyan LV; Furlan I; Brandt S; Schulz A; Wabitsch M; Denzer C
Ital J Pediatr; 2023 Aug; 49(1):98. PubMed ID: 37580732
[TBL] [Abstract][Full Text] [Related]
26. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
Carvalho CM; Zuccherato LW; Williams CL; Neill NJ; Murdock DR; Bainbridge M; Jhangiani SN; Muzny DM; Gibbs RA; Ip W; Guillerman RP; Lupski JR; Bertuch AA
BMC Med Genet; 2014 Jun; 15():64. PubMed ID: 24898207
[TBL] [Abstract][Full Text] [Related]
27. 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. PubMed ID: 28211564
[TBL] [Abstract][Full Text] [Related]
28. Shwachman-Diamond Syndrome: are we missing many?
Kathuria R; Poddar U; Yachha SK
Indian Pediatr; 2012 Sep; 49(9):748-9. PubMed ID: 23024080
[TBL] [Abstract][Full Text] [Related]
29. Inherited bone marrow failure syndromes in adolescents and young adults.
Wilson DB; Link DC; Mason PJ; Bessler M
Ann Med; 2014 Sep; 46(6):353-63. PubMed ID: 24888387
[TBL] [Abstract][Full Text] [Related]
30. 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; 12():48. PubMed ID: 22554078
[TBL] [Abstract][Full Text] [Related]
31. Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome.
Mercuri A; Cannata E; Perbellini O; Cugno C; Balter R; Zaccaron A; Tridello G; Pizzolo G; De Bortoli M; Krampera M; Cipolli M; Cesaro S
Eur J Haematol; 2015 Oct; 95(4):308-15. PubMed ID: 25402872
[TBL] [Abstract][Full Text] [Related]
32. Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.
Reilly CR; Shimamura A
Blood; 2023 Mar; 141(13):1513-1523. PubMed ID: 36542827
[TBL] [Abstract][Full Text] [Related]
33. Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Association?
Wang NW; Georgara N; Khan HS
J Pediatr Hematol Oncol; 2022 Aug; 44(6):345-346. PubMed ID: 35482443
[TBL] [Abstract][Full Text] [Related]
34. Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
Burwick N; Coats SA; Nakamura T; Shimamura A
Blood; 2012 Dec; 120(26):5143-52. PubMed ID: 23115272
[TBL] [Abstract][Full Text] [Related]
35. Refining the phenotype associated with biallelic DNAJC21 mutations.
D'Amours G; Lopes F; Gauthier J; Saillour V; Nassif C; Wynn R; Alos N; Leblanc T; Capri Y; Nizard S; Lemyre E; Michaud JL; Pelletier VA; Pastore YD; Soucy JF
Clin Genet; 2018 Aug; 94(2):252-258. PubMed ID: 29700810
[TBL] [Abstract][Full Text] [Related]
36. Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Taha I; De Paoli F; Foroni S; Zucca S; Limongelli I; Cipolli M; Danesino C; Ramenghi U; Minelli A
Genes (Basel); 2022 Jul; 13(8):. PubMed ID: 35893049
[TBL] [Abstract][Full Text] [Related]
37. Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
Topa A; Tulinius M; Oldfors A; Hedberg-Oldfors C
Am J Med Genet A; 2016 May; 170A(5):1155-64. PubMed ID: 26866830
[TBL] [Abstract][Full Text] [Related]
38. 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. PubMed ID: 22935661
[TBL] [Abstract][Full Text] [Related]
39. 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 Nov; 64(11):. PubMed ID: 28509441
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
