BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 37803383)

  • 21. Hematologically important mutations: Shwachman-Diamond syndrome.
    Costa E; Santos R
    Blood Cells Mol Dis; 2008; 40(2):183-4. PubMed ID: 17916435
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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. PubMed ID: 22213587
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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; 59(7):1334-5. PubMed ID: 22887728
    [No Abstract]   [Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. Two mutations in the
    Spangenberg MN; Grille S; Simoes C; Dell'Oca N; Boada M; Guillermo C; Raggio V; Spangenberg L
    Cold Spring Harb Mol Case Stud; 2022 Dec; 8(7):. PubMed ID: 36577524
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.
    Huang JN; Shimamura A
    Curr Opin Hematol; 2011 Jan; 18(1):30-5. PubMed ID: 21124213
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. [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; 76(4):435-438. PubMed ID: 30078780
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. Shwachman-Diamond syndrome (SDS) in a preterm neonate.
    Saito-Benz M; Miller HE; Berry MJ
    J Paediatr Child Health; 2015 Dec; 51(12):1228-31. PubMed ID: 26081292
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
    Furutani E; Shah AS; Zhao Y; Andorsky D; Dedeoglu F; Geddis A; Zhou Y; Libermann TA; Myers KC; Shimamura A
    Am J Med Genet A; 2020 Jul; 182(7):1754-1760. PubMed ID: 32293785
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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; 29(11):1325-1327. PubMed ID: 27754968
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Shwachman-Diamond syndrome: UK perspective.
    Hall GW; Dale P; Dodge JA
    Arch Dis Child; 2006 Jun; 91(6):521-4. PubMed ID: 16714727
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.
    Kawakami T; Mitsui T; Kanai M; Shirahata E; Sendo D; Kanno M; Noro M; Endoh M; Hama A; Tono C; Ito E; Tsuchiya S; Igarashi Y; Abukawa D; Hayasaka K
    Tohoku J Exp Med; 2005 Jul; 206(3):253-9. PubMed ID: 15942154
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome.
    Schaballie H; Renard M; Vermylen C; Scheers I; Revencu N; Regal L; Cassiman D; Sevenants L; Hoffman I; Corveleyn A; Bordon V; Haerynck F; Allegaert K; De Boeck K; Roskams T; Boeckx N; Bossuyt X; Meyts I
    Eur J Pediatr; 2013 May; 172(5):613-22. PubMed ID: 23315050
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells.
    Cipolli M; Boni C; Penzo M; Villa I; Bolamperti S; Baldisseri E; Frattini A; Porta G; Api M; Selicato N; Roccia P; Pollutri D; Marinelli Busilacchi E; Poloni A; Caporelli N; D'Amico G; Pegoraro A; Cesaro S; Oyarbide U; Vella A; Lippi G; Corey SJ; Valli R; Polini A; Bezzerri V
    Br J Haematol; 2024 Jan; 204(1):292-305. PubMed ID: 37876306
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells.
    Bezzerri V; Bardelli D; Morini J; Vella A; Cesaro S; Sorio C; Biondi A; Danesino C; Farruggia P; Assael BM; D'amico G; Cipolli M
    Am J Hematol; 2018 Aug; 93(4):527-536. PubMed ID: 29285795
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.