BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 35893049)

  • 1. 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]  

  • 2. 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]  

  • 3. Case Report: Heterozygous Germline Variant in
    Taha I; Foroni S; Valli R; Frattini A; Roccia P; Porta G; Zecca M; Bergami E; Cipolli M; Pasquali F; Danesino C; Scotti C; Minelli A
    Front Genet; 2022; 13():896749. PubMed ID: 36035165
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome.
    Luo S; Bi B; Zhang W; Zhou R; Chen W; Zhao P; Huang Y; Yuan L; He X
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1798. PubMed ID: 34469078
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.
    Han X; Lu S; Gu C; Bian Z; Xie X; Qiao X
    BMC Pediatr; 2023 Oct; 23(1):503. PubMed ID: 37803383
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
    Thompson AS; Giri N; Gianferante DM; Jones K; Savage SA; Alter BP; McReynolds LJ
    Pediatr Res; 2022 Dec; 92(6):1671-1680. PubMed ID: 35322185
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
    Kawashima N; Oyarbide U; Cipolli M; Bezzerri V; Corey SJ
    Haematologica; 2023 Oct; 108(10):2594-2605. PubMed ID: 37226705
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [Diagnosis and treatment of Shwachman-Diamond syndrome in Chinese children: An evidence-based study].
    Han X; Shen T; Gu C; Qiao X; Xie X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):939-946. PubMed ID: 37532492
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.
    Spinetti E; Delre P; Saviano M; Siliqi D; Lattanzi G; Mangiatordi GF
    Int J Mol Sci; 2022 Jul; 23(14):. PubMed ID: 35887285
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.