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: 30414057)

  • 1. The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.
    Baydakova GV; Ivanova TA; Mikhaylova SV; Saydaeva DK; Dzhudinova LL; Akhlakova AI; Gamzatova AI; Bychkov IO; Zakharova EY
    JIMD Rep; 2019; 45():89-93. PubMed ID: 30414057
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report.
    Maksimova NR; Gurinova EE; Sukhomyasova AL; Danilova AL; Kaimonov VS; Savvina MT; Yakovleva AE; Alekseeva EI
    Wiad Lek; 2016; 69(2 Pt 2):295-8. PubMed ID: 27487552
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.
    Ijaz S; Zahoor MY; Imran M; Afzal S; Bhinder MA; Ullah I; Cheema HA; Ramzan K; Shehzad W
    J Pediatr Endocrinol Metab; 2016 Mar; 29(3):327-32. PubMed ID: 26565546
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.
    Aponte JL; Sega GA; Hauser LJ; Dhar MS; Withrow CM; Carpenter DA; Rinchik EM; Culiat CT; Johnson DK
    Proc Natl Acad Sci U S A; 2001 Jan; 98(2):641-5. PubMed ID: 11209059
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.
    Angileri F; Bergeron A; Morrow G; Lettre F; Gray G; Hutchin T; Ball S; Tanguay RM
    JIMD Rep; 2015; 19():43-58. PubMed ID: 25681080
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
    Pérez-Carro R; Sánchez-Alcudia R; Pérez B; Navarrete R; Pérez-Cerdá C; Ugarte M; Desviat LR
    Clin Genet; 2014 Aug; 86(2):167-71. PubMed ID: 23895425
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (
    Sikonja J; Brecelj J; Zerjav Tansek M; Repic Lampret B; Drole Torkar A; Klemencic S; Lipovec N; Stefanova Kralj V; Bertok S; Kovac J; Faganel Kotnik B; Tesarova M; Remec ZI; Debeljak M; Battelino T; Groselj U
    Mol Genet Metab Rep; 2022 Mar; 30():100836. PubMed ID: 35242570
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
    Petrova NV; Kashirskaya NY; Saydaeva DK; Polyakov AV; Adyan TA; Simonova OI; Gorinova YV; Kondratyeva EI; Sherman VD; Novoselova OG; Vasilyeva TA; Marakhonov AV; Macek M; Ginter EK; Zinchenko RA
    BMC Med Genet; 2019 Mar; 20(1):44. PubMed ID: 30898088
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient
    Yang H; Rossignol F; Cyr D; Laframboise R; Wang SP; Soucy JF; Berthier MT; Giguère Y; Waters PJ; Mitchell GA;
    Mol Genet Metab Rep; 2018 Mar; 14():55-58. PubMed ID: 29326876
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).
    Chi H; Gan C; Jiang Y; Chen D; Qiu J; Yang Q; Chen Y; Wang M; Yang H; Jiang W; Li Q
    Mol Genet Genomic Med; 2023 Jan; 11(1):e2090. PubMed ID: 36369907
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
    Morrow G; Angileri F; Tanguay RM
    Adv Exp Med Biol; 2017; 959():25-48. PubMed ID: 28755182
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.
    Cao YY; Zhang YL; DU J; Qu YJ; Zhong XM; Bai JL; Song F
    Chin Med J (Engl); 2012 Jun; 125(12):2132-6. PubMed ID: 22884142
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.
    Bergman AJ; van den Berg IE; Brink W; Poll-The BT; Ploos van Amstel JK; Berger R
    Hum Mutat; 1998; 12(1):19-26. PubMed ID: 9633815
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway.
    Endo F; Kubo S; Awata H; Kiwaki K; Katoh H; Kanegae Y; Saito I; Miyazaki J; Yamamoto T; Jakobs C; Hattori S; Matsuda I
    J Biol Chem; 1997 Sep; 272(39):24426-32. PubMed ID: 9305902
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.
    Demers SI; Phaneuf D; Tanguay RM
    Am J Hum Genet; 1994 Aug; 55(2):327-33. PubMed ID: 7913582
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
    Imtiaz F; Rashed MS; Al-Mubarak B; Allam R; El-Karaksy H; Al-Hassnan Z; Al-Owain M; Al-Zaidan H; Rahbeeni Z; Qari A; Meyer BF; Al-Sayed M
    Mol Genet Metab; 2011 Dec; 104(4):688-90. PubMed ID: 21764616
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1.
    Chen J; Sun J; Li X; Du M
    BMC Med Genomics; 2022 Dec; 15(1):251. PubMed ID: 36463171
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.
    van Dyk E; Pretorius PJ
    J Inherit Metab Dis; 2012 May; 35(3):407-11. PubMed ID: 22002443
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
    Giguère Y; Berthier MT
    Adv Exp Med Biol; 2017; 959():139-146. PubMed ID: 28755192
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I.
    Morrow G; Dreumont N; Bourrelle-Langlois M; Roy V; Tanguay RM
    Mol Genet Metab; 2019 May; 127(1):58-63. PubMed ID: 30954369
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.