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 *

151 related articles for article (PubMed ID: 29808591)

  • 1. H syndrome: Clinical, histological and genetic investigation in Tunisian patients.
    Jaouadi H; Zaouak A; Sellami K; Messaoud O; Chargui M; Hammami H; Jones M; Jouini R; Chadli Debbiche A; Chraiet K; Fenniche S; Mrad R; Mokni M; Turki H; Benkhalifa R; Abdelhak S
    J Dermatol; 2018 Aug; 45(8):978-985. PubMed ID: 29808591
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. H syndrome - the first report in Malaysia.
    Low DE; Tang MM; Surana U; Lee JY; Pramano ZAD; Leong KF
    Int J Dermatol; 2019 Oct; 58(10):e190-e193. PubMed ID: 31192449
    [No 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. 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]  

  • 7. Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue.
    Molho-Pessach V; Mechoulam H; Siam R; Babay S; Ramot Y; Zlotogorski A
    Ophthalmic Genet; 2015; 36(4):365-8. PubMed ID: 24547910
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene.
    Fujita E; Komine M; Tsuda H; Adachi A; Murata S; Kamata Y; Minota S; Ohtsuki M
    J Dermatol; 2015 Dec; 42(12):1169-71. PubMed ID: 26074390
    [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. 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]  

  • 12. 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]  

  • 13. Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
    Jonard L; Couloigner V; Pierrot S; Louha M; Gherbi S; Denoyelle F; Marlin S
    Eur J Med Genet; 2012 Jan; 55(1):56-8. PubMed ID: 21888995
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome.
    Rafiq NK; Hussain K; Brogan PA
    Pediatrics; 2017 Nov; 140(5):. PubMed ID: 29079714
    [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. Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.
    Bakhchane A; Kindil Z; Charoute H; Benchikhi K; Khadir K; Nadifi S; Baline K; Roky R; Barakat A
    Curr Res Transl Med; 2016; 64(2):65-8. PubMed ID: 27316388
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome.
    Deshpande R; Parthasarathy L; Dalal A; Khadilkar V; Khadilkar A
    Indian J Pediatr; 2016 Jan; 83(1):92-3. PubMed ID: 25967258
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome.
    Huber-Ruano I; Errasti-Murugarren E; Godoy V; Vera Á; Andreu AL; Garcia-Arumi E; Martí R; Pastor-Anglada M
    Biochem Biophys Res Commun; 2012 Nov; 428(4):532-7. PubMed ID: 23058913
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.