BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 26866830)

  • 1. 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]  

  • 2. 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]  

  • 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. PubMed ID: 22510201
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
    Carapito R; Konantz M; Paillard C; Miao Z; Pichot A; Leduc MS; Yang Y; Bergstrom KL; Mahoney DH; Shardy DL; Alsaleh G; Naegely L; Kolmer A; Paul N; Hanauer A; Rolli V; Müller JS; Alghisi E; Sauteur L; Macquin C; Morlon A; Sancho CS; Amati-Bonneau P; Procaccio V; Mosca-Boidron AL; Marle N; Osmani N; Lefebvre O; Goetz JG; Unal S; Akarsu NA; Radosavljevic M; Chenard MP; Rialland F; Grain A; Béné MC; Eveillard M; Vincent M; Guy J; Faivre L; Thauvin-Robinet C; Thevenon J; Myers K; Fleming MD; Shimamura A; Bottollier-Lemallaz E; Westhof E; Lengerke C; Isidor B; Bahram S
    J Clin Invest; 2017 Nov; 127(11):4090-4103. PubMed ID: 28972538
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].
    Shen J; Lin K; An Y; Wu YM; Qiao ZW; Yu H; Zhu QR; Zhang T
    Zhonghua Er Ke Za Zhi; 2013 Sep; 51(9):679-83. PubMed ID: 24330988
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in
    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. PubMed ID: 28331068
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.
    Myers KC; Rose SR; Rutter MM; Mehta PA; Khoury JC; Cole T; Harris RE
    J Pediatr; 2013 Jun; 162(6):1235-40, 1240.e1. PubMed ID: 23305959
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. [Shwachman-Diamond syndrome].
    Vinokurova LV; Dubtsova EA; Yashina NI; Shulyatyev IS; Osipenko YV
    Ter Arkh; 2014; 86(2):72-5. PubMed ID: 24772512
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs.
    In K; Zaini MA; Müller C; Warren AJ; von Lindern M; Calkhoven CF
    Nucleic Acids Res; 2016 May; 44(9):4134-46. PubMed ID: 26762974
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
    Nishimura G; Nakashima E; Hirose Y; Cole T; Cox P; Cohn DH; Rimoin DL; Lachman RS; Miyamoto Y; Kerr B; Unger S; Ohashi H; Superti-Furga A; Ikegawa S
    J Med Genet; 2007 Apr; 44(4):e73. PubMed ID: 17400792
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Further evidence for the involvement of
    Tan QK; Cope H; Spillmann RC; Stong N; Jiang YH; McDonald MT; Rothman JA; Butler MW; Frush DP; Lachman RS; Lee B; Bacino CA; Bonner MJ; McCall CM; Pendse AA; Walley N; ; Shashi V; Pena LDM
    Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 29970384
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome.
    Nelson AS; Myers KC
    Hematol Oncol Clin North Am; 2018 Aug; 32(4):687-700. PubMed ID: 30047420
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.