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79 related items for PubMed ID: 22959626

  • 1. CHIT1 genetic defects in the Portuguese population.
    Duarte AJ, Ribeiro D, Amaral O.
    Blood Cells Mol Dis; 2013 Jan; 50(1):50-2. PubMed ID: 22959626
    [Abstract] [Full Text] [Related]

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  • 3. Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.
    Rodrigues MR, Sá Miranda MC, Amaral O.
    Blood Cells Mol Dis; 2004 Jan; 33(3):362-4. PubMed ID: 15528158
    [Abstract] [Full Text] [Related]

  • 4. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.
    Grace ME, Balwani M, Nazarenko I, Prakash-Cheng A, Desnick RJ.
    Hum Mutat; 2007 Sep; 28(9):866-73. PubMed ID: 17464953
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  • 6. Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population.
    Motlagh B, Taghikhani M, Khatami S, Zamanfar D.
    Genet Test Mol Biomarkers; 2016 Jan; 20(1):31-6. PubMed ID: 26624962
    [Abstract] [Full Text] [Related]

  • 7. Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.
    Mavrikiou G, Petrou P, Georgiou T, Drousiotou A.
    Clin Biochem; 2016 Aug; 49(12):885-9. PubMed ID: 27129798
    [Abstract] [Full Text] [Related]

  • 8. [24-bp duplication on CHIT1 gene in Mexican population].
    Juárez-Rendón KJ, Lara-Aguilar RA, García-Ortiz JE.
    Rev Med Inst Mex Seguro Soc; 2012 Aug; 50(4):375-7. PubMed ID: 23234739
    [Abstract] [Full Text] [Related]

  • 9. Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases.
    Olkhovych NV.
    Ukr Biochem J; 2016 Aug; 88(1):69-78. PubMed ID: 29227082
    [Abstract] [Full Text] [Related]

  • 10. Common chitotriosidase duplication gene polymorphism and clinical outcome status in sarcoidosis.
    Harlander M, Maver A, Terčelj M, Salobir B, Peterlin B.
    Sarcoidosis Vasc Diffuse Lung Dis; 2015 Sep 14; 32(3):194-9. PubMed ID: 26422563
    [Abstract] [Full Text] [Related]

  • 11. Polymorphisms in the CHIT1 gene: Associations with colorectal cancer.
    Li FF, Yan P, Zhao ZX, Liu Z, Song DW, Zhao XW, Wang XS, Wang GY, Liu SL.
    Oncotarget; 2016 Jun 28; 7(26):39572-39581. PubMed ID: 27153562
    [Abstract] [Full Text] [Related]

  • 12. Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.
    Woo KH, Lee BH, Heo SH, Kim JM, Kim GH, Kim YM, Kim JH, Choi IH, Yang SH, Yoo HW.
    J Hum Genet; 2014 May 28; 59(5):276-9. PubMed ID: 24621582
    [Abstract] [Full Text] [Related]

  • 13. High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.
    Manno N, Sherratt S, Boaretto F, Coico FM, Camus CE, Campos CJ, Musumeci S, Battisti A, Quinnell RJ, León JM, Vazza G, Mostacciuolo ML, Paoletti MG, Falcone FH.
    Carbohydr Polym; 2014 Nov 26; 113():607-14. PubMed ID: 25256524
    [Abstract] [Full Text] [Related]

  • 14. 24 bp duplication of CHIT1 gene is not correlated with coronary artery disease in Corsica Island (France).
    Piras I, Falchi A, Melis A, Ghiani ME, Calò CM, Varesi L, Vona G.
    Exp Mol Pathol; 2007 Dec 26; 83(3):490-2. PubMed ID: 17916351
    [Abstract] [Full Text] [Related]

  • 15. Chitotriosidase deficiency is not associated with human hookworm infection in a Papua New Guinean population.
    Hall AJ, Quinnell RJ, Raiko A, Lagog M, Siba P, Morroll S, Falcone FH.
    Infect Genet Evol; 2007 Dec 26; 7(6):743-7. PubMed ID: 17765019
    [Abstract] [Full Text] [Related]

  • 16. Association of genetic variation in chitotriosidase with atopy in Korean children.
    Kim KW, Park J, Lee JH, Lee HS, Lee J, Lee KH, Lee KE, Hong JY, Kim MN, Heo WI, Lee MG, Sohn MH, Kim KE.
    Ann Allergy Asthma Immunol; 2013 Jun 26; 110(6):444-449.e1. PubMed ID: 23706714
    [Abstract] [Full Text] [Related]

  • 17. Mutational spectrum of delta-globin gene in the Portuguese population.
    Morgado A, Picanço I, Gomes S, Miranda A, Coucelo M, Seuanes F, Seixas MT, Romão L, Faustino P.
    Eur J Haematol; 2007 Nov 26; 79(5):422-8. PubMed ID: 17916081
    [Abstract] [Full Text] [Related]

  • 18. Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in amyotrophic lateral sclerosis: a survey clinic-based study.
    Pagliardini V, Pagliardini S, Corrado L, Lucenti A, Panigati L, Bersano E, Servo S, Cantello R, D'Alfonso S, Mazzini L.
    J Neurol Sci; 2015 Jan 15; 348(1-2):245-50. PubMed ID: 25563799
    [Abstract] [Full Text] [Related]

  • 19. Evaluation of chitotriosidase as a biomarker for adipose tissue inflammation in overweight individuals and type 2 diabetic patients.
    Tans R, van Diepen JA, Bijlsma S, Verschuren L, Suppers A, Stienstra R, Wevers RA, Tack CJ, Gloerich J, van Gool AJ.
    Int J Obes (Lond); 2019 Sep 15; 43(9):1712-1723. PubMed ID: 30301968
    [Abstract] [Full Text] [Related]

  • 20. Allelic genes of blood group antigens: a source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database.
    Blumenfeld OO, Patnaik SK.
    Hum Mutat; 2004 Jan 15; 23(1):8-16. PubMed ID: 14695527
    [Abstract] [Full Text] [Related]

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