Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 107

1.

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;59(5):276-9. doi: 10.1038/jhg.2014.16. Epub 2014 Mar 13.

PMID:
24621582
2.

Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring.

Irún P, Alfonso P, Aznarez S, Giraldo P, Pocovi M.

Clin Biochem. 2013 Dec;46(18):1804-7. doi: 10.1016/j.clinbiochem.2013.09.006. Epub 2013 Sep 20.

PMID:
24060732
3.

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. doi: 10.1016/j.clinbiochem.2016.03.013. Epub 2016 Apr 26.

PMID:
27129798
4.

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. doi: 10.1089/gtmb.2015.0116. Epub 2015 Dec 1.

PMID:
26624962
5.

Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers).

Giraldo P, Cenarro A, Alfonso P, Pérez-Calvo JI, Rubio-Félix D, Giralt M, Pocoví M.

Haematologica. 2001 Sep;86(9):977-84.

6.

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.

PMID:
17464953
7.

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 Nov-Dec;33(3):362-4.

PMID:
15528158
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 Jul-Aug;50(4):375-7. Spanish.

PMID:
23234739
9.

[Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].

Wang Y, Zhang HW, Ye J, Qiu WJ, Han LS, Gu XF.

Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):834-8. Chinese.

PMID:
23302614
10.

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;110(6):444-449.e1. doi: 10.1016/j.anai.2013.03.009. Epub 2013 Apr 15.

PMID:
23706714
11.

Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates.

Bussink AP, Verhoek M, Vreede J, Ghauharali-van der Vlugt K, Donker-Koopman WE, Sprenger RR, Hollak CE, Aerts JM, Boot RG.

FEBS J. 2009 Oct;276(19):5678-88. doi: 10.1111/j.1742-4658.2009.07259.x. Epub 2009 Sep 2.

12.

Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.

Kadali S, Kolusu A, Sunkara S, Gummadi MR, Undamatla J.

Clin Chim Acta. 2016 Jun 1;457:8-11. doi: 10.1016/j.cca.2016.03.004. Epub 2016 Mar 11.

PMID:
26975750
13.

Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.

Kim JW, Liou BB, Lai MY, Ponce E, Grabowski GA.

Hum Mutat. 1996;7(3):214-8.

PMID:
8829654
14.

Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity.

Lee P, Waalen J, Crain K, Smargon A, Beutler E.

Blood Cells Mol Dis. 2007 Nov-Dec;39(3):353-60. Epub 2007 Aug 10.

15.

[Diagnosis, biomarkers and biochemical alterations in Gaucher's disease].

Gort L, Coll MJ.

Med Clin (Barc). 2011 Sep;137 Suppl 1:12-6. doi: 10.1016/S0025-7753(11)70011-2. Spanish.

PMID:
22230120
16.

Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene.

Adelino TER, Martins GG, Gomes AAA, Torres AA, Silva DAS, Xavier VDO, Guimarães JPO, Araújo SSS, Fernandes RAF, Oliveira MCLA, Godard ALB, Valadares ER.

JIMD Rep. 2013;9:85-91. doi: 10.1007/8904_2012_184. Epub 2012 Oct 13.

17.

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;83(3):490-2. Epub 2007 Aug 24.

PMID:
17916351
18.

Chitotriosidase deficiency: a mutation update in an african population.

Arndt S, Hobbs A, Sinclaire I, Lane AB.

JIMD Rep. 2013;10:11-6. doi: 10.1007/8904_2012_193. Epub 2012 Dec 29.

19.

Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population.

Choi JM, Kim WC, Lyoo CH, Kang SY, Lee PH, Baik JS, Koh SB, Ma HI, Sohn YH, Lee MS, Kim YJ.

Neurosci Lett. 2012 Apr 11;514(1):12-5. doi: 10.1016/j.neulet.2012.02.035. Epub 2012 Feb 22.

PMID:
22387070
20.

Duplication in CHIT1 gene and the risk for Aspergillus lung disease in CF patients.

Livnat G, Bar-Yoseph R, Mory A, Dagan E, Elias N, Gershoni R, Bentur L.

Pediatr Pulmonol. 2014 Jan;49(1):21-7. doi: 10.1002/ppul.22749. Epub 2013 Jan 28.

PMID:
23359515

Supplemental Content

Support Center