BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

121 related articles for article (PubMed ID: 11139256)

  • 1. Novel mutations in the GALK1 gene in patients with galactokinase deficiency.
    Hunter M; Angelicheva D; Levy HL; Pueschel SM; Kalaydjieva L
    Hum Mutat; 2001; 17(1):77-8. PubMed ID: 11139256
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
    Sangiuolo F; Magnani M; Stambolian D; Novelli G
    Hum Mutat; 2004 Apr; 23(4):396. PubMed ID: 15024738
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations in 13 probands with galactokinase deficiency.
    Kolosha V; Anoia E; de Cespedes C; Gitzelmann R; Shih L; Casco T; Saborio M; Trejos R; Buist N; Tedesco T; Skach W; Mitelmann O; Ledee D; Huang K; Stambolian D
    Hum Mutat; 2000; 15(5):447-53. PubMed ID: 10790206
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular characterization of galactokinase deficiency in Japanese patients.
    Asada M; Okano Y; Imamura T; Suyama I; Hase Y; Isshiki G
    J Hum Genet; 1999; 44(6):377-82. PubMed ID: 10570908
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
    Hunter M; Heyer E; Austerlitz F; Angelicheva D; Nedkova V; Briones P; Gata A; de Pablo R; László A; Bosshard N; Gitzelmann R; Tordai A; Kalmar L; Szalai C; Balogh I; Lupu C; Corches A; Popa G; Perez-Lezaun A; Kalaydjieva LV
    Pediatr Res; 2002 May; 51(5):602-6. PubMed ID: 11978884
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional analysis of disease-causing mutations in human galactokinase.
    Timson DJ; Reece RJ
    Eur J Biochem; 2003 Apr; 270(8):1767-74. PubMed ID: 12694189
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
    Stambolian D; Ai Y; Sidjanin D; Nesburn K; Sathe G; Rosenberg M; Bergsma DJ
    Nat Genet; 1995 Jul; 10(3):307-12. PubMed ID: 7670469
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.
    Hartley A; Glynn SE; Barynin V; Baker PJ; Sedelnikova SE; Verhees C; de Geus D; van der Oost J; Timson DJ; Reece RJ; Rice DW
    J Mol Biol; 2004 Mar; 337(2):387-98. PubMed ID: 15003454
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes].
    Zhang DL; Ji L; Li YD
    Yi Chuan Xue Bao; 2004 May; 31(5):431-43. PubMed ID: 15478601
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
    Iacobazzi V; Invernizzi F; Baratta S; Pons R; Chung W; Garavaglia B; Dionisi-Vici C; Ribes A; Parini R; Huertas MD; Roldan S; Lauria G; Palmieri F; Taroni F
    Hum Mutat; 2004 Oct; 24(4):312-20. PubMed ID: 15365988
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.
    Maraini G; Hejtmancik JF; Shiels A; Mackay DS; Aldigeri R; Jiao XD; Williams SL; Sperduto RD; Reed G
    Mol Vis; 2003 Aug; 9():397-400. PubMed ID: 12942049
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.
    Reich S; Hennermann J; Vetter B; Neumann LM; Shin YS; Söling A; Mönch E; Kulozik AE
    Pediatr Res; 2002 May; 51(5):598-601. PubMed ID: 11978883
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).
    Kalaydjieva L; Perez-Lezaun A; Angelicheva D; Onengut S; Dye D; Bosshard NU; Jordanova A; Savov A; Yanakiev P; Kremensky I; Radeva B; Hallmayer J; Markov A; Nedkova V; Tournev I; Aneva L; Gitzelmann R
    Am J Hum Genet; 1999 Nov; 65(5):1299-307. PubMed ID: 10521295
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
    Park HD; Bang YL; Park KU; Kim JQ; Jeong BH; Kim YS; Song YH; Song J
    Mol Genet Metab; 2007 Jul; 91(3):234-8. PubMed ID: 17517531
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.
    Okada H; Takagi A; Murate T; Adachi T; Yamamoto K; Matsushita T; Takamatsu J; Sugita K; Sugimoto M; Yoshioka A; Yamazaki T; Saito H; Kojima T
    Br J Haematol; 2004 Jul; 126(2):219-25. PubMed ID: 15238143
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.
    Park HD; Kim YK; Park KU; Kim JQ; Song YH; Song J
    BMC Med Genet; 2009 Mar; 10():29. PubMed ID: 19309526
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
    Climent C; Rubio V
    Hum Mutat; 2002 Feb; 19(2):185-6. PubMed ID: 11793483
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.
    Rivolta CM; Olcese MC; Belforte FS; Chiesa A; Gruñeiro-Papendieck L; Iorcansky S; Herzovich V; Cassorla F; Gauna A; Gonzalez-Sarmiento R; Targovnik HM
    Mol Cell Probes; 2009; 23(3-4):148-53. PubMed ID: 19268523
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.
    Yasmeen A; Riazuddin SA; Kaul H; Mohsin S; Khan M; Qazi ZA; Nasir IA; Zafar AU; Khan SN; Husnain T; Akram J; Hejtmancik JF; Riazuddin S
    Mol Vis; 2010 Apr; 16():682-8. PubMed ID: 20405025
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
    Urreizti R; Balcells S; Rodés M; Vilarinho L; Baldellou A; Couce ML; Muñoz C; Campistol J; Pintó X; Vilaseca MA; Grinberg D
    Hum Mutat; 2003 Jul; 22(1):103. PubMed ID: 12815602
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.