These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 related articles for article (PubMed ID: 25359985)

  • 1. Transfer RNA and syndromic sideroblastic anemia.
    Iolascon A
    Blood; 2014 Oct; 124(18):2763-4. PubMed ID: 25359985
    [No Abstract]   [Full Text] [Related]  

  • 2. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
    Chakraborty PK; Schmitz-Abe K; Kennedy EK; Mamady H; Naas T; Durie D; Campagna DR; Lau A; Sendamarai AK; Wiseman DH; May A; Jolles S; Connor P; Powell C; Heeney MM; Giardina PJ; Klaassen RJ; Kannengiesser C; Thuret I; Thompson AA; Marques L; Hughes S; Bonney DK; Bottomley SS; Wynn RF; Laxer RM; Minniti CP; Moppett J; Bordon V; Geraghty M; Joyce PB; Markianos K; Rudner AD; Holcik M; Fleming MD
    Blood; 2014 Oct; 124(18):2867-71. PubMed ID: 25193871
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).
    Rigante D; Stellacci E; Leoni C; Onesimo R; Radio FC; Pizzi S; Giorgio V; Tornesello A; Tartaglia M; Zampino G
    Immunol Lett; 2020 Sep; 225():64-65. PubMed ID: 32592741
    [No Abstract]   [Full Text] [Related]  

  • 4. Bone marrow histopathologic findings in SIFD syndrome: beyond the erythroid lineage.
    Mariani R; Gong S
    Blood; 2018 Sep; 132(13):1459. PubMed ID: 30262584
    [No Abstract]   [Full Text] [Related]  

  • 5. Pathophysiology and genetic mutations in congenital sideroblastic anemia.
    Fujiwara T; Harigae H
    Pediatr Int; 2013 Dec; 55(6):675-9. PubMed ID: 24003969
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
    Giannelou A; Wang H; Zhou Q; Park YH; Abu-Asab MS; Ylaya K; Stone DL; Sediva A; Sleiman R; Sramkova L; Bhatla D; Serti E; Tsai WL; Yang D; Bishop K; Carrington B; Pei W; Deuitch N; Brooks S; Edwan JH; Joshi S; Prader S; Kaiser D; Owen WC; Sonbul AA; Zhang Y; Niemela JE; Burgess SM; Boehm M; Rehermann B; Chae J; Quezado MM; Ombrello AK; Buckley RH; Grom AA; Remmers EF; Pachlopnik JM; Su HC; Gutierrez-Cruz G; Hewitt SM; Sood R; Risma K; Calvo KR; Rosenzweig SD; Gadina M; Hafner M; Sun HW; Kastner DL; Aksentijevich I
    Ann Rheum Dis; 2018 Apr; 77(4):612-619. PubMed ID: 29358286
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome.
    Kisla Ekinci RM; Zararsiz A; Demir GU; Anlas O
    Pediatr Allergy Immunol Pulmonol; 2022 Sep; 35(3):129-132. PubMed ID: 36121781
    [No Abstract]   [Full Text] [Related]  

  • 8. [A case report of X-linked sideroblastic anemia with novel ALAS2 gene mutation].
    Bao SJ; Zhu HM; Tong Y; Hao D; Ling Y; Yuan W; Zhou Y; Sun ZQ
    Zhonghua Xue Ye Xue Za Zhi; 2019 Aug; 40(8):684. PubMed ID: 31495138
    [No Abstract]   [Full Text] [Related]  

  • 9. Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia.
    Li J; Chen L; Lin Y; Ru K
    Int J Lab Hematol; 2020 Aug; 42(4):e160-e163. PubMed ID: 32297424
    [No Abstract]   [Full Text] [Related]  

  • 10. Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
    Pondarre C; Campagna DR; Antiochos B; Sikorski L; Mulhern H; Fleming MD
    Blood; 2007 Apr; 109(8):3567-9. PubMed ID: 17192398
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Sideroblastic anaemia, immunodeficiency, periodic fevers and developmental delay (SIFD) presenting as systemic inflammation with arthritis.
    Maccora I; Ramanan AV; Vergnano S; Roderick MR
    Rheumatology (Oxford); 2021 Jul; 60(7):e234-e236. PubMed ID: 33493307
    [No Abstract]   [Full Text] [Related]  

  • 12. Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.
    Berhe S; Heeney MM; Campagna DR; Thompson JF; White EJ; Ross T; Peake RWA; Hanrahan JD; Rodriguez V; Renaud DL; Patnaik MS; Chang E; Bottomley SS; Fleming MD
    Haematologica; 2018 Dec; 103(12):e561-e563. PubMed ID: 30006447
    [No Abstract]   [Full Text] [Related]  

  • 13. X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.
    D'Hooghe M; Selleslag D; Mortier G; Van Coster R; Vermeersch P; Billiet J; Bekri S
    Eur J Paediatr Neurol; 2012 Nov; 16(6):730-5. PubMed ID: 22398176
    [TBL] [Abstract][Full Text] [Related]  

  • 14. X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation.
    Susanto TAK; Bhattacharyya R
    J Pediatr Hematol Oncol; 2017 Jul; 39(5):408-409. PubMed ID: 28644307
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease.
    Bardou MLD; Rivitti-Machado MC; Michalany NS; de Jesus AA; Goldbach-Mansky R; Barros JCR; Terreri MTSELRA; Grumach AS
    Australas J Dermatol; 2021 May; 62(2):e276-e279. PubMed ID: 33332575
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Genetic diagnosis of a Chinese pedigree with X-Linked sideroblastic anemia: a case report and literature review].
    Chen C; Ding Q; Lu Y; Dai J; Wang X; Xi X; Wang H
    Zhonghua Xue Ye Xue Za Zhi; 2016 Feb; 37(2):154-6. PubMed ID: 27014988
    [No Abstract]   [Full Text] [Related]  

  • 17. SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis.
    Barton C; Kausar S; Kerr D; Bitetti S; Wynn R
    J Clin Pathol; 2018 Mar; 71(3):275-278. PubMed ID: 29055896
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The phenotypic spectrum of germline
    Riley LG; Heeney MM; Rudinger-Thirion J; Frugier M; Campagna DR; Zhou R; Hale GA; Hilliard LM; Kaplan JA; Kwiatkowski JL; Sieff CA; Steensma DP; Rennings AJ; Simons A; Schaap N; Roodenburg RJ; Kleefstra T; Arenillas L; Fita-Torró J; Ahmed R; Abboud M; Bechara E; Farah R; Tamminga RYJ; Bottomley SS; Sanchez M; Huls G; Swinkels DW; Christodoulou J; Fleming MD
    Haematologica; 2018 Dec; 103(12):2008-2015. PubMed ID: 30026338
    [No Abstract]   [Full Text] [Related]  

  • 19. A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.
    Oakley JH; Campagna DR; Sun L; Rockowitz S; Sliz P; Boudreaux J; Woods G; Fleming MD
    Pediatr Blood Cancer; 2022 Jan; 69(1):e29309. PubMed ID: 34411431
    [No Abstract]   [Full Text] [Related]  

  • 20. Different haematological picture of congenital sideroblastic anaemia in a hemizygote and a heterozygote.
    Aguiar E; Freitas MI; Barbot J
    Br J Haematol; 2014 Aug; 166(4):469. PubMed ID: 24862439
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.