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Items: 1 to 20 of 117

1.

Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

Haghighi A, Masri A, Kornreich R, Desnick RJ.

Mol Genet Metab. 2011 Dec;104(4):700-2. doi: 10.1016/j.ymgme.2011.09.013. Epub 2011 Sep 16.

PMID:
21967858
2.

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
3.

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
4.

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.

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
6.

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
7.

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.

8.

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
9.

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

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

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

PMID:
22789865
10.

Heterozygote screening for Tay-Sachs disease: past successes and future challenges.

Natowicz MR, Prence EM.

Curr Opin Pediatr. 1996 Dec;8(6):625-9. Review.

PMID:
9018448
11.

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.

12.
13.

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
14.

Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.

Guetta E, Peleg L.

Methods Mol Biol. 2008;444:147-59. doi: 10.1007/978-1-59745-066-9_11.

PMID:
18425478
15.

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
16.

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.

17.

Novel human pathological mutations. Gene symbol: HEXA. Disease: Tay-Sachs disease.

Chin E, Bean L, Coffee B, Hegde MR.

Hum Genet. 2009 Aug;126(2):329. doi: 10.1007/s00439-009-0717-7. No abstract available.

PMID:
19644708
18.
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20.

Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

Sheth J, Mistri M, Datar C, Kalane U, Patil S, Kamate M, Shah H, Nampoothiri S, Gupta S, Sheth F.

Mol Genet Metab Rep. 2014 Sep 29;1:425-430. eCollection 2014.

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