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Results: 1 to 20 of 105

Similar articles for PubMed (Select 22441121)

1.

Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

Zampieri S, Montalvo A, Blanco M, Zanin I, Amartino H, Vlahovicek K, Szlago M, Schenone A, Pittis G, Bembi B, Dardis A.

Gene. 2012 May 15;499(2):262-5. doi: 10.1016/j.gene.2012.03.022. Epub 2012 Mar 13.

PMID:
22441121
2.

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

Mistri M, Tamhankar PM, Sheth F, Sanghavi D, Kondurkar P, Patil S, Idicula-Thomas S, Gupta S, Sheth J.

PLoS One. 2012;7(6):e39122. doi: 10.1371/journal.pone.0039122. Epub 2012 Jun 18.

3.

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

Gort L, de Olano N, Macías-Vidal J, Coll MA; Spanish GM2 Working Group.

Gene. 2012 Sep 10;506(1):25-30. Epub 2012 Jul 10.

PMID:
22789865
4.

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

Montalvo AL, Filocamo M, Vlahovicek K, Dardis A, Lualdi S, Corsolini F, Bembi B, Pittis MG.

Hum Mutat. 2005 Sep;26(3):282.

PMID:
16088929
5.

Rapid identification of HEXA mutations in Tay-Sachs patients.

Giraud C, Dussau J, Azouguene E, Feillet F, Puech JP, Caillaud C.

Biochem Biophys Res Commun. 2010 Feb 19;392(4):599-602. doi: 10.1016/j.bbrc.2010.01.088. Epub 2010 Jan 25.

PMID:
20100466
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9.

Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

Akli S, Chomel JC, Lacorte JM, Bachner L, Kahn A, Poenaru L.

Hum Mol Genet. 1993 Jan;2(1):61-7. Erratum in: Hum Mol Genet 1993 Apr;2(4):496.

PMID:
8490625
10.

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.

Hechtman P, Boulay B, De Braekeleer M, Andermann E, Melançon S, Larochelle J, Prevost C, Kaplan F.

Hum Genet. 1992 Dec;90(4):402-6.

PMID:
1483696
11.

Rapid and cost-effective method for the detection of the c.533G>A mutation in the HEXA gene.

Ribeiro D, Duarte AJ, Amaral O.

Genet Test Mol Biomarkers. 2011 Mar;15(3):123-6. doi: 10.1089/gtmb.2010.0129. Epub 2011 Jan 4.

PMID:
21204700
12.

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.

Myerowitz R.

Hum Mutat. 1997;9(3):195-208. Review.

PMID:
9090523
13.

Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

Triggs-Raine B, Richard M, Wasel N, Prence EM, Natowicz MR.

Am J Hum Genet. 1995 Apr;56(4):870-9.

14.

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.

Akerman BR, Zielenski J, Triggs-Raine BL, Prence EM, Natowicz MR, Lim-Steele JS, Kaback MM, Mules EH, Thomas GH, Clarke JT, et al.

Hum Mutat. 1992;1(4):303-9.

PMID:
1301938
15.

Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.

Yoo HW, Astrin KH, Desnick RJ.

J Korean Med Sci. 1993 Feb;8(1):84-91.

16.

Eight novel mutations in the HEXA gene.

McGinniss MJ, Brown DH, Fulwiler A, Marten M, Lim-Steele JS, Kaback MM.

Genet Med. 2002 May-Jun;4(3):158-61.

PMID:
12180151
17.

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.

Akli S, Boue J, Sandhoff K, Kleijer W, Vamos E, Young E, Gatti R, Di Natale P, Motte J, Vanier MT, et al.

Eur J Hum Genet. 1993;1(3):229-38.

PMID:
8044648
18.

Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

Frisch A, Colombo R, Michaelovsky E, Karpati M, Goldman B, Peleg L.

Hum Genet. 2004 Mar;114(4):366-76. Epub 2004 Jan 15.

PMID:
14727180
19.

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

Haghighi A, Rezazadeh J, Shadmehri AA, Haghighi A, Kornreich R, Desnick RJ.

J Hum Genet. 2011 Sep;56(9):682-4. doi: 10.1038/jhg.2011.78. Epub 2011 Jul 28.

PMID:
21796138
20.

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification.

Vallance H, Morris TJ, Coulter-Mackie M, Lim-Steele J, Kaback M.

Mol Genet Metab. 2006 Feb;87(2):122-7. Epub 2005 Dec 13.

PMID:
16352452
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