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 *

176 related articles for article (PubMed ID: 31951337)

  • 1. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
    Odaman-Al I; Gezdirici A; Yıldız M; Ersoy G; Aydoğan G; Şalcıoğlu Z; Tahtakesen TN; Önal H; Küçükemre-Aydın B
    Turk J Pediatr; 2019; 61(2):257-260. PubMed ID: 31951337
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
    Odaman-Al I; Gezdirici A; Yıldız M; Ersoy G; Aydoğan G; Şalcıoğlu Z; Tahtakesen TN; Önal H; Küçükemre-Aydın B
    Turk J Pediatr; 2019; 61(2):257-260. PubMed ID: 31951336
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.
    Xian X; Liao L; Shu W; Li H; Qin Y; Yan J; Luo J; Lin FQ
    Cell Physiol Biochem; 2018; 47(5):1989-1997. PubMed ID: 29969779
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.
    Katipoğlu N; Karapinar TH; Demir K; Aydin Köker S; Nalbantoğlu Ö; Ay Y; Korkmaz HA; Oymak Y; Yıldız M; Tunç S; Hazan F; Vergin C; Ozkan B
    Arch Argent Pediatr; 2017 Jun; 115(3):e153-e156. PubMed ID: 28504500
    [TBL] [Abstract][Full Text] [Related]  

  • 5. TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
    Li X; Cheng Q; Ding Y; Li Q; Yao R; Wang J; Wang X
    BMC Pediatr; 2019 Jul; 19(1):233. PubMed ID: 31296181
    [TBL] [Abstract][Full Text] [Related]  

  • 6. First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.
    Pomahačová R; Zamboryová J; Sýkora J; Paterová P; Fiklík K; Votava T; Černá Z; Jehlička P; Lád V; Šubrt I; Dort J; Dortová E
    Pediatr Diabetes; 2017 Dec; 18(8):844-847. PubMed ID: 28004468
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.
    Mikstiene V; Songailiene J; Byckova J; Rutkauskiene G; Jasinskiene E; Verkauskiene R; Lesinskas E; Utkus A
    Am J Med Genet A; 2015 Jul; 167(7):1605-9. PubMed ID: 25707023
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family.
    Amr K; Pawlikowska P; Aoufouchi S; Rosselli F; El-Kamah G
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00777. PubMed ID: 31144472
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
    Akbari MT; Zare Karizi S; Mirfakhraie R; Keikhaei B
    Eur J Pediatr; 2014 Dec; 173(12):1663-5. PubMed ID: 24357267
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.
    Mozzillo E; Melis D; Falco M; Fattorusso V; Taurisano R; Flanagan SE; Ellard S; Franzese A
    Pediatr Diabetes; 2013 Aug; 14(5):384-7. PubMed ID: 23289844
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.
    Yeşilkaya E; Bideci A; Temizkan M; Kaya Z; Camurdan O; Koç A; Bozkaya D; Koçak U; Cinaz P
    J Trop Pediatr; 2009 Aug; 55(4):265-7. PubMed ID: 18614593
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.
    Manimaran P; Subramanian VS; Karthi S; Gandhimathi K; Varalakshmi P; Ganesh R; Rathinavel A; Said HM; Ashokkumar B
    Clin Chim Acta; 2016 Jan; 452():44-9. PubMed ID: 26549656
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
    Srikrupa NN; Meenakshi S; Arokiasamy T; Murali K; Soumittra N
    Ophthalmic Genet; 2014 Jun; 35(2):119-24. PubMed ID: 23638917
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel mutation in the SLC19A2 gene in an Iranian family with thiamine-responsive megaloblastic anemia: a series of three cases.
    Ghaemi N; Ghahraman M; Abbaszadegan MR; Baradaran-Heravi A; Vakili R
    J Clin Res Pediatr Endocrinol; 2013 Sep; 5(3):199-201. PubMed ID: 24072090
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.
    Setoodeh A; Haghighi A; Saleh-Gohari N; Ellard S; Haghighi A
    Gene; 2013 May; 519(2):295-7. PubMed ID: 23454484
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
    Enogieru OJ; Koleske ML; Vora B; Ngo H; Yee SW; Chatad D; Sirota M; Giacomini KM
    AAPS J; 2021 Mar; 23(2):35. PubMed ID: 33649974
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.
    Pichler H; Zeitlhofer P; Dworzak MN; Diakos C; Haas OA; Kager L
    Eur J Pediatr; 2012 Nov; 171(11):1711-5. PubMed ID: 22576805
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest.
    Dua V; Yadav SP; Kumar V; Khan AA; Puri R; Verma I; Flanagan SE; Ellard S; Sachdeva A
    Pediatr Blood Cancer; 2013 Jul; 60(7):1242-3. PubMed ID: 23512295
    [No Abstract]   [Full Text] [Related]  

  • 19. Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.
    Zhang S; Qiao Y; Wang Z; Zhuang J; Sun Y; Shang X; Li G
    Clin Chim Acta; 2021 May; 516():157-168. PubMed ID: 33571483
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
    Habeb AM; Flanagan SE; Zulali MA; Abdullah MA; Pomahačová R; Boyadzhiev V; Colindres LE; Godoy GV; Vasanthi T; Al Saif R; Setoodeh A; Haghighi A; Haghighi A; Shaalan Y; ; Hattersley AT; Ellard S; De Franco E
    Diabetologia; 2018 May; 61(5):1027-1036. PubMed ID: 29450569
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.