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  • Wildcard search for 'gene*' used only the first 600 variations. Lengthen the root word to search for all endings.

Results: 1 to 20 of 123

1.

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.

Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, Orr-Urtreger A.

Neurology. 2013 Apr 23;80(17):1606-10. doi: 10.1212/WNL.0b013e31828f180e. Epub 2013 Mar 27.

PMID:
23535491
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.

Nakagawa S, Zhan J, Sun W, Ferreira JC, Keiles S, Hambuch T, Kammesheidt A, Mark BL, Schneider A, Gross S, Schreiber-Agus N.

JIMD Rep. 2012;6:1-6. doi: 10.1007/8904_2011_120. Epub 2012 Jan 31.

PMID:
23430931
[PubMed]
Free PMC Article
3.

The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.

Hussain A, Armistead J, Gushulak L, Kruck C, Pind S, Triggs-Raine B, Natowicz MR.

Biochem Biophys Res Commun. 2012 Sep 21;426(2):286-8. doi: 10.1016/j.bbrc.2012.08.089. Epub 2012 Aug 25.

PMID:
22943850
[PubMed - indexed for MEDLINE]
5.

Genetic screening in the Persian Jewish community: A pilot study.

Kaback M, Lopatequi J, Portuges AR, Quindipan C, Pariani M, Salimpour-Davidov N, Rimoin DL.

Genet Med. 2010 Oct;12(10):628-33. doi: 10.1097/GIM.0b013e3181edef5b.

PMID:
20733503
[PubMed - indexed for MEDLINE]
6.

A universal carrier test for the long tail of Mendelian disease.

Srinivasan BS, Evans EA, Flannick J, Patterson AS, Chang CC, Pham T, Young S, Kaushal A, Lee J, Jacobson JL, Patrizio P.

Reprod Biomed Online. 2010 Oct;21(4):537-51. doi: 10.1016/j.rbmo.2010.05.012. Epub 2010 Aug 21.

PMID:
20729146
[PubMed - indexed for MEDLINE]
7.

Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

Colaianni A, Chandrasekharan S, Cook-Deegan R.

Genet Med. 2010 Apr;12(4 Suppl):S5-S14. doi: 10.1097/GIM.0b013e3181d5a669.

PMID:
20393311
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Hexosaminidase A Deficiency.

Kaback MM, Desnick RJ.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
1999 Mar 11 [updated 2011 Aug 11].

PMID:
20301397
[PubMed]
Books & Documents
9.

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
[PubMed - indexed for MEDLINE]
10.

Population screening for reproductive risk for single gene disorders in Australia: now and the future.

Delatycki MB.

Twin Res Hum Genet. 2008 Aug;11(4):422-30. doi: 10.1375/twin.11.4.422.

PMID:
18637742
[PubMed - indexed for MEDLINE]
11.

Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease.

Altarescu G, Brooks B, Margalioth E, Eldar Geva T, Levy-Lahad E, Renbaum P.

Reprod Biomed Online. 2007 Jul;15(1):83-8.

PMID:
17623543
[PubMed - indexed for MEDLINE]
12.

From new screens to discovered genes: the successful past and promising present of single gene disorders.

Roe AM, Shur N.

Am J Med Genet C Semin Med Genet. 2007 Feb 15;145C(1):77-86. Review.

PMID:
17315238
[PubMed - indexed for MEDLINE]
13.

Ashkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic disease.

Brandt-Rauf SI, Raveis VH, Drummond NF, Conte JA, Rothman SM.

Am J Public Health. 2006 Nov;96(11):1979-88. Epub 2006 Oct 3.

PMID:
17018815
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).

Brown JT, Lahey C, Laosinchai-Wolf W, Hadd AG.

BMC Med Genet. 2006 Aug 3;7:69.

PMID:
16887033
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

[Autosomal recessive diseases with mental retardation].

Fernández-Carvajal I, Telleria JJ, Alonso M, Palencia R, Durán M, López B, Navarro N, de Diego-Otero Y, Blanco A.

Rev Neurol. 2006 Jan 7;42 Suppl 1:S39-43. Review. Spanish.

PMID:
16506131
[PubMed - indexed for MEDLINE]
Free Article
16.

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH.

Genet Med. 2005 Feb;7(2):119-23.

PMID:
15714079
[PubMed - indexed for MEDLINE]
17.

Ashkenazi Jewish genetic disorders.

Charrow J.

Fam Cancer. 2004;3(3-4):201-6. Review.

PMID:
15516842
[PubMed - indexed for MEDLINE]
18.

Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy.

Branda KJ, Tomczak J, Natowicz MR.

Genet Test. 2004 Summer;8(2):174-80.

PMID:
15345116
[PubMed - indexed for MEDLINE]
19.

A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.

Slatkin M.

Am J Hum Genet. 2004 Aug;75(2):282-93. Epub 2004 Jun 18.

PMID:
15208782
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]

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