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Similar articles for PubMed (Select 20100466)

1.

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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4.

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
5.

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
6.

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.

7.

Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.

Park NJ, Morgan C, Sharma R, Li Y, Lobo RM, Redman JB, Salazar D, Sun W, Neidich JA, Strom CM.

Pediatr Res. 2010 Feb;67(2):217-20. doi: 10.1203/PDR.0b013e3181c6e318.

PMID:
19858779
8.

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
9.

Three novel mutations in Iranian patients with Tay-Sachs disease.

Jamali S, Eskandari N, Aryani O, Salehpour S, Zaman T, Kamalidehghan B, Houshmand M.

Iran Biomed J. 2014;18(2):114-9.

10.

Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.

Triggs-Raine BL, Akerman BR, Clarke JT, Gravel RA.

Am J Hum Genet. 1991 Nov;49(5):1041-54.

11.

Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.

Akli S, Chelly J, Lacorte JM, Poenaru L, Kahn A.

Genomics. 1991 Sep;11(1):124-34.

PMID:
1837283
12.

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.

13.

Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population.

Landels EC, Ellis IH, Fensom AH, Green PM, Bobrow M.

J Med Genet. 1991 Mar;28(3):177-80.

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.

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

Akli S, Chelly J, Mezard C, Gandy S, Kahn A, Poenaru L.

J Biol Chem. 1990 May 5;265(13):7324-30.

17.

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.

18.

A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.

Karpati M, Peleg L, Gazit E, Akstein E, Goldman B.

Clin Genet. 2000 May;57(5):398-400.

PMID:
10852376
20.

Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.

Strasberg PM, Clarke JT.

Clin Chem. 1992 Nov;38(11):2249-55. Erratum in: Clin Chem 1993 Feb;39(2):371.

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