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 *

173 related articles for article (PubMed ID: 33387019)

  • 1. Glomerular involvement in children with H syndrome.
    David O; Geylis M; Kristal E; Ling G; Schreiber R
    Pediatr Nephrol; 2021 Mar; 36(3):721-724. PubMed ID: 33387019
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
    Elbarbary NS; Tjora E; Molnes J; Lie BA; Habib MA; Salem MA; Njølstad PR
    Pediatr Diabetes; 2013 Sep; 14(6):466-72. PubMed ID: 22989030
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.
    Farooq M; Moustafa RM; Fujimoto A; Fujikawa H; Abbas O; Kibbi AG; Kurban M; Shimomura Y
    Dermatology; 2012; 224(3):277-84. PubMed ID: 22653152
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.
    Chouk H; Ben Rejeb M; Boussofara L; Elmabrouk H; Ghariani N; Sriha B; Saad A; H'Mida D; Denguezli M
    Hum Genomics; 2021 Oct; 15(1):63. PubMed ID: 34657628
    [TBL] [Abstract][Full Text] [Related]  

  • 5. SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis.
    de Jesus J; Imane Z; Senée V; Romero S; Guillausseau PJ; Balafrej A; Julier C
    Diabetes Metab; 2013 May; 39(3):281-5. PubMed ID: 23623699
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 'H-syndrome': a multisystem genetic disorder with cutaneous clues.
    Mori KS; Balachandran K; Asirvatham AR; Mahadevan S
    BMJ Case Rep; 2021 May; 14(5):. PubMed ID: 33947670
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder.
    Besci Ö; Patel KA; Yıldız G; Tüfekçi Ö; Acinikli KY; Erbaş İM; Abacı A; Böber E; Bayram MT; Yılmaz Ş; Demir K
    Hormones (Athens); 2022 Sep; 21(3):501-506. PubMed ID: 35284993
    [TBL] [Abstract][Full Text] [Related]  

  • 8. H syndrome: the first 79 patients.
    Molho-Pessach V; Ramot Y; Camille F; Doviner V; Babay S; Luis SJ; Broshtilova V; Zlotogorski A
    J Am Acad Dermatol; 2014 Jan; 70(1):80-8. PubMed ID: 24172204
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome.
    Shankar SG; Rangarajan S; Priyadarshini A; Swaminathan A; Sundaram M
    Pediatr Dermatol; 2020 Mar; 37(2):333-336. PubMed ID: 31867772
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.
    Al-Haggar M; Salem N; Wahba Y; Ahmad N; Jonard L; Abdel-Hady D; El-Hawary A; El-Sharkawy A; Eid AR; El-Hawary A
    Pediatr Diabetes; 2015 Jun; 16(4):305-16. PubMed ID: 24894595
    [TBL] [Abstract][Full Text] [Related]  

  • 11. H syndrome treated with Tocilizumab: two case reports and literature review.
    Jacquot R; Jouret M; Valentin MG; Richard M; Jamilloux Y; Rousset F; Emile JF; Haroche J; Steinmüller L; Zekre F; Phan A; Belot A; Seve P
    Front Immunol; 2023; 14():1061182. PubMed ID: 37638031
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
    Morgan NV; Morris MR; Cangul H; Gleeson D; Straatman-Iwanowska A; Davies N; Keenan S; Pasha S; Rahman F; Gentle D; Vreeswijk MP; Devilee P; Knowles MA; Ceylaner S; Trembath RC; Dalence C; Kismet E; Köseoğlu V; Rossbach HC; Gissen P; Tannahill D; Maher ER
    PLoS Genet; 2010 Feb; 6(2):e1000833. PubMed ID: 20140240
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cases with the H syndrome presenting with skin and bone findings.
    Kose H; Baskaya MD; Kilic SS
    Australas J Dermatol; 2024 Jun; 65(4):337-341. PubMed ID: 38421823
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review.
    Simsek E; Simsek T; Eren M; Yilmaz E; Arik D; Cilingir O; Ceylaner S; Harmancı K
    Horm Res Paediatr; 2019; 91(5):346-355. PubMed ID: 30625464
    [TBL] [Abstract][Full Text] [Related]  

  • 15. H syndrome: 5 new cases from the United States with novel features and responses to therapy.
    Bloom JL; Lin C; Imundo L; Guthery S; Stepenaskie S; Galambos C; Lowichik A; Bohnsack JF
    Pediatr Rheumatol Online J; 2017 Oct; 15(1):76. PubMed ID: 29041934
    [TBL] [Abstract][Full Text] [Related]  

  • 16. H syndrome with a novel homozygous SLC29A3 mutation in two sisters.
    Demir D; Aktaş Karabay E; Sözeri B; Gürsoy F; Akgün Doğan Ö; Topaktaş E; Zindancı İ
    Pediatr Dermatol; 2020 Nov; 37(6):1135-1138. PubMed ID: 32776596
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report.
    Polat R; Ustyol A; Altunbaş R; Ceylaner S
    Endocr Metab Immune Disord Drug Targets; 2023; 23(5):727-731. PubMed ID: 36372920
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.
    Rezaie N; Mansour Samaei N; Ghorbani A; Gholipour N; Vosough S; Rafigh M; Amini A
    BMC Med Genomics; 2024 Jul; 17(1):178. PubMed ID: 38965556
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.
    Noavar S; Behroozi S; Tatarcheh T; Parvini F; Foroutan M; Fahimi H
    BMC Med Genet; 2019 Aug; 20(1):147. PubMed ID: 31464584
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The H syndrome is caused by mutations in the nucleoside transporter hENT3.
    Molho-Pessach V; Lerer I; Abeliovich D; Agha Z; Abu Libdeh A; Broshtilova V; Elpeleg O; Zlotogorski A
    Am J Hum Genet; 2008 Oct; 83(4):529-34. PubMed ID: 18940313
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.