BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

268 related articles for article (PubMed ID: 33417088)

  • 1. Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
    Oleaga-Quintas C; de Oliveira-Júnior EB; Rosain J; Rapaport F; Deswarte C; Guérin A; Sajjath SM; Zhou YJ; Marot S; Lozano C; Branco L; Fernández-Hidalgo N; Lew DB; Brunel AS; Thomas C; Launay E; Arias AA; Cuffel A; Monjo VC; Neehus AL; Marques L; Roynard M; Moncada-Vélez M; Gerçeker B; Colobran R; Vigué MG; Lopez-Herrera G; Berron-Ruiz L; Méndez NHS; O'Farrill Romanillos P; Le Voyer T; Puel A; Bellanné-Chantelot C; Ramirez KA; Lorenzo-Diaz L; Alejo NR; de Diego RP; Condino-Neto A; Mellouli F; Rodriguez-Gallego C; Witte T; Restrepo JF; Jobim M; Boisson-Dupuis S; Jeziorski E; Fieschi C; Vogt G; Donadieu J; Pasquet M; Vasconcelos J; Ardeniz FO; Martínez-Gallo M; Campos RA; Jobim LF; Martínez-Barricarte R; Liu K; Cobat A; Abel L; Casanova JL; Bustamante J
    J Clin Immunol; 2021 Apr; 41(3):639-657. PubMed ID: 33417088
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
    Hsu AP; Sampaio EP; Khan J; Calvo KR; Lemieux JE; Patel SY; Frucht DM; Vinh DC; Auth RD; Freeman AF; Olivier KN; Uzel G; Zerbe CS; Spalding C; Pittaluga S; Raffeld M; Kuhns DB; Ding L; Paulson ML; Marciano BE; Gea-Banacloche JC; Orange JS; Cuellar-Rodriguez J; Hickstein DD; Holland SM
    Blood; 2011 Sep; 118(10):2653-5. PubMed ID: 21670465
    [TBL] [Abstract][Full Text] [Related]  

  • 3. GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.
    Brambila-Tapia AJL; García-Ortiz JE; Brouillard P; Nguyen HL; Vikkula M; Ríos-González BE; Sandoval-Muñiz RJ; Sandoval-Talamantes AK; Bobadilla-Morales L; Corona-Rivera JR; Arnaud-Lopez L
    Hematology; 2017 Sep; 22(8):467-471. PubMed ID: 28271814
    [TBL] [Abstract][Full Text] [Related]  

  • 4. GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.
    Rajput RV; Arnold DE
    Curr Hematol Malig Rep; 2023 Aug; 18(4):89-97. PubMed ID: 37247092
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
    Roncareggi S; Girardi K; Fioredda F; Pedace L; Arcuri L; Badolato R; Bonanomi S; Borlenghi E; Cirillo E; Coliva T; Consonni F; Conti F; Farruggia P; Gambineri E; Guerra F; Locatelli F; Mancuso G; Marzollo A; Masetti R; Micalizzi C; Onofrillo D; Piccini M; Pignata C; Raddi MG; Santini V; Vendemini F; Biondi A; Saettini F
    J Clin Immunol; 2023 Nov; 43(8):2192-2207. PubMed ID: 37837580
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.
    Sahoo SS; Kozyra EJ; Wlodarski MW
    Best Pract Res Clin Haematol; 2020 Sep; 33(3):101197. PubMed ID: 33038986
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Connecting the Dots From Fever of Unknown Origin to Myelodysplastic Syndrome: GATA2 Haploinsufficiency.
    Montiel-Esparza R; Reys B; Rogers ZR; Evans AS; Wysocki CA; Timmons C; Dickerson KE
    J Pediatr Hematol Oncol; 2020 Jul; 42(5):e365-e368. PubMed ID: 31033783
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
    Kong XF; Vogt G; Itan Y; Macura-Biegun A; Szaflarska A; Kowalczyk D; Chapgier A; Abhyankar A; Furthner D; Djambas Khayat C; Okada S; Bryant VL; Bogunovic D; Kreins A; Moncada-Vélez M; Migaud M; Al-Ajaji S; Al-Muhsen S; Holland SM; Abel L; Picard C; Chaussabel D; Bustamante J; Casanova JL; Boisson-Dupuis S
    Hum Mol Genet; 2013 Feb; 22(4):769-81. PubMed ID: 23161749
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotypic heterogeneity associated with germline
    Haddox CL; Carr RM; Abraham RS; Perez Botero J; Rodriguez V; Pardanani A; Patnaik MM
    Leuk Lymphoma; 2019 Dec; 60(13):3282-3286. PubMed ID: 31246134
    [No Abstract]   [Full Text] [Related]  

  • 10. WILD syndrome is GATA2 deficiency: A novel deletion in the GATA2 gene.
    Dorn JM; Patnaik MS; Van Hee M; Smith MJ; Lagerstedt SA; Newman CC; Boyce TG; Abraham RS
    J Allergy Clin Immunol Pract; 2017; 5(4):1149-1152.e1. PubMed ID: 28373026
    [No Abstract]   [Full Text] [Related]  

  • 11. Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency.
    Sologuren I; Martínez-Saavedra MT; Solé-Violán J; de Borges de Oliveira E; Betancor E; Casas I; Oleaga-Quintas C; Martínez-Gallo M; Zhang SY; Pestano J; Colobran R; Herrera-Ramos E; Pérez C; López-Rodríguez M; Ruiz-Hernández JJ; Franco N; Ferrer JM; Bilbao C; Andújar-Sánchez M; Álvarez Fernández M; Ciancanelli MJ; Rodríguez de Castro F; Casanova JL; Bustamante J; Rodríguez-Gallego C
    J Clin Immunol; 2018 May; 38(4):513-526. PubMed ID: 29882021
    [TBL] [Abstract][Full Text] [Related]  

  • 12. GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis.
    Shamriz O; Zahalka N; Simon AJ; Lev A; Barel O; Mor N; Tal Y; Segel MJ; Somech R; Yonath H; Toker O
    Front Immunol; 2022; 13():886117. PubMed ID: 35603181
    [TBL] [Abstract][Full Text] [Related]  

  • 13. GATA2 deficiency syndrome: A decade of discovery.
    Homan CC; Venugopal P; Arts P; Shahrin NH; Feurstein S; Rawlings L; Lawrence DM; Andrews J; King-Smith SL; Harvey NL; Brown AL; Scott HS; Hahn CN
    Hum Mutat; 2021 Nov; 42(11):1399-1421. PubMed ID: 34387894
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis.
    Huang X; Wu B; Wu D; Huang X; Shen M
    Front Immunol; 2023; 14():1191757. PubMed ID: 37680631
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GATA2 germline mutations impair GATA2 transcription, causing haploinsufficiency: functional analysis of the p.Arg396Gln mutation.
    Cortés-Lavaud X; Landecho MF; Maicas M; Urquiza L; Merino J; Moreno-Miralles I; Odero MD
    J Immunol; 2015 Mar; 194(5):2190-8. PubMed ID: 25624456
    [TBL] [Abstract][Full Text] [Related]  

  • 16. IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity.
    Kuehn HS; Nunes-Santos CJ; Rosenzweig SD
    J Clin Immunol; 2021 Jan; 41(1):1-10. PubMed ID: 33392855
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
    Kuehn HS; Bernasconi A; Niemela JE; Almejun MB; Gallego WAF; Goel S; Stoddard JL; Sánchez RGP; Franco CAA; Oleastro M; Grunebaum E; Ballas Z; Cunningham-Rundles C; Fleisher TA; Franco JL; Danielian S; Rosenzweig SD
    J Clin Immunol; 2020 Nov; 40(8):1093-1101. PubMed ID: 32813180
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
    Kozyra EJ; Pastor VB; Lefkopoulos S; Sahoo SS; Busch H; Voss RK; Erlacher M; Lebrecht D; Szvetnik EA; Hirabayashi S; Pasaulienė R; Pedace L; Tartaglia M; Klemann C; Metzger P; Boerries M; Catala A; Hasle H; de Haas V; Kállay K; Masetti R; De Moerloose B; Dworzak M; Schmugge M; Smith O; Starý J; Mejstrikova E; Ussowicz M; Morris E; Singh P; Collin M; Derecka M; Göhring G; Flotho C; Strahm B; Locatelli F; Niemeyer CM; Trompouki E; Wlodarski MW;
    Leukemia; 2020 Oct; 34(10):2673-2687. PubMed ID: 32555368
    [TBL] [Abstract][Full Text] [Related]  

  • 19. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.
    Spinner MA; Sanchez LA; Hsu AP; Shaw PA; Zerbe CS; Calvo KR; Arthur DC; Gu W; Gould CM; Brewer CC; Cowen EW; Freeman AF; Olivier KN; Uzel G; Zelazny AM; Daub JR; Spalding CD; Claypool RJ; Giri NK; Alter BP; Mace EM; Orange JS; Cuellar-Rodriguez J; Hickstein DD; Holland SM
    Blood; 2014 Feb; 123(6):809-21. PubMed ID: 24227816
    [TBL] [Abstract][Full Text] [Related]  

  • 20. MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations.
    McReynolds LJ; Yang Y; Yuen Wong H; Tang J; Zhang Y; Mulé MP; Daub J; Palmer C; Foruraghi L; Liu Q; Zhu J; Wang W; West RR; Yohe ME; Hsu AP; Hickstein DD; Townsley DM; Holland SM; Calvo KR; Hourigan CS
    Leuk Res; 2019 Jan; 76():70-75. PubMed ID: 30578959
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.