BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 10909858)

  • 1. Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.
    Sistermans EA; de Coo RF; van Beerendonk HM; Poll-The BT; Kleijer WJ; van Oost BA
    Eur J Hum Genet; 2000 Jul; 8(7):557-60. PubMed ID: 10909858
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
    Unalp A; Altiok E; Uran N; Oztürk A; Yüksel S
    J Trop Pediatr; 2008 Jun; 54(3):208-10. PubMed ID: 17999961
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
    Rady PL; Penzien JM; Vargas T; Tyring SK; Matalon R
    Eur J Paediatr Neurol; 2000; 4(1):27-30. PubMed ID: 10701101
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Canavan disease: diagnosis and molecular analysis.
    Matalon R
    Genet Test; 1997; 1(1):21-5. PubMed ID: 10464621
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.
    Kaul R; Gao GP; Matalon R; Aloya M; Su Q; Jin M; Johnson AB; Schutgens RB; Clarke JT
    Am J Hum Genet; 1996 Jul; 59(1):95-102. PubMed ID: 8659549
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Canavan disease: a novel mutation.
    Schober H; Luetschg J; Hoeliner I; Kalb S; Simma B
    Pediatr Neurol; 2011 Oct; 45(4):256-8. PubMed ID: 21907889
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.
    Kaul R; Gao GP; Balamurugan K; Matalon R
    Nat Genet; 1993 Oct; 5(2):118-23. PubMed ID: 8252036
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Canavan disease: mutations among Jewish and non-Jewish patients.
    Kaul R; Gao GP; Aloya M; Balamurugan K; Petrosky A; Michals K; Matalon R
    Am J Hum Genet; 1994 Jul; 55(1):34-41. PubMed ID: 8023850
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish Population.
    Alford RL; DeMarchi JM; Richards CS
    Hum Mutat; 1998; Suppl 1():S161-2. PubMed ID: 9452075
    [No Abstract]   [Full Text] [Related]  

  • 10. Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
    Zeng BJ; Wang ZH; Ribeiro LA; Leone P; De Gasperi R; Kim SJ; Raghavan S; Ong E; Pastores GM; Kolodny EH
    J Inherit Metab Dis; 2002 Nov; 25(7):557-70. PubMed ID: 12638939
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
    Durmaz AA; Akin H; Onay H; Vahabi A; Ozkinay F
    Fetal Pediatr Pathol; 2012 Aug; 31(4):236-9. PubMed ID: 22468686
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
    Elpeleg ON; Shaag A
    J Inherit Metab Dis; 1999 Jun; 22(4):531-4. PubMed ID: 10407784
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing.
    Propheta O; Magal N; Shohat M; Eyal N; Navot N; Horowitz M
    Eur J Hum Genet; 1998; 6(6):635-7. PubMed ID: 9887384
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
    Eke GH; Iscan A; Cece H; Calik M
    Genet Couns; 2012; 23(1):9-12. PubMed ID: 22611636
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
    Shaag A; Anikster Y; Christensen E; Glustein JZ; Fois A; Michelakakis H; Nigro F; Pronicka E; Ribes A; Zabot MT
    Am J Hum Genet; 1995 Sep; 57(3):572-80. PubMed ID: 7668285
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
    Zeng BJ; Pastores GM; Leone P; Raghavan S; Wang ZH; Ribeiro LA; Torres P; Ong E; Kolodny EH
    Adv Exp Med Biol; 2006; 576():165-73; discussion 361-3. PubMed ID: 16802711
    [No Abstract]   [Full Text] [Related]  

  • 17. Aspartoacylase gene knockout in the mouse: impact on reproduction.
    Surendran S; Szucs S; Tyring SK; Matalon R
    Reprod Toxicol; 2005; 20(2):281-3. PubMed ID: 15907664
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
    Di Pietro V; Cavallari U; Amorini AM; Lazzarino G; Longo S; Poggiani C; Cavalli P; Tavazzi B
    Clin Biochem; 2013 Dec; 46(18):1902-4. PubMed ID: 24036223
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.
    Elpeleg ON; Anikster Y; Barash V; Branski D; Shaag A
    Am J Hum Genet; 1994 Aug; 55(2):287-8. PubMed ID: 8037206
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.
    Tacke U; Olbrich H; Sass JO; Fekete A; Horvath J; Ziyeh S; Kleijer WJ; Rolland MO; Fisher S; Payne S; Vargiami E; Zafeiriou DI; Omran H
    Neuropediatrics; 2005 Aug; 36(4):252-5. PubMed ID: 16138249
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.