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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 2
1991 2
1992 1
1993 3
1994 3
1995 4
1996 1
1997 7
1998 3
1999 4
2000 2
2001 5
2002 7
2003 3
2004 10
2005 2
2006 4
2007 3
2008 5
2009 5
2010 1
2011 4
2013 1
2014 9
2015 4
2016 4
2017 2
2019 4
2020 1
2021 1
2022 1
2023 3
2024 0

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104 results

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Page 1
Effect of BRCA germline mutations on breast cancer prognosis: A systematic review and meta-analysis.
Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D. Baretta Z, et al. Medicine (Baltimore). 2016 Oct;95(40):e4975. doi: 10.1097/MD.0000000000004975. Medicine (Baltimore). 2016. PMID: 27749552 Free PMC article. Review.
We aimed to systematically review and perform meta-analysis of the available evidence of effects of BRCA germline mutations on multiple survival outcomes of breast cancer patients as a whole and in specific subgroups of interest, including those with triple negative breast cancer …
We aimed to systematically review and perform meta-analysis of the available evidence of effects of BRCA germline mutations on multiple surv …
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
Myerowitz R. Myerowitz R. Hum Mutat. 1997;9(3):195-208. doi: 10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7. Hum Mutat. 1997. PMID: 9090523 Review.
Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. ...One of these insertions, consisting of four bases within exon 11, is found in 80% of the carriers of Tay-Sachs disease from the Ashkenazi Jewish popula …
Tay-Sachs disease is an autosomal recessive disorder affecting the central nervous system. ...One of these insertions, consist …
Dystonia.
Snaith A, Wade D. Snaith A, et al. BMJ Clin Evid. 2011 Jun 13;2011:1211. BMJ Clin Evid. 2011. PMID: 21663705 Free PMC article. Review.
It is more common in women, and some types of dystonia are more common in people of European Ashkenazi Jewish descent. METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of drug treatment …
It is more common in women, and some types of dystonia are more common in people of European Ashkenazi Jewish descent. METHODS …
Bloom syndrome.
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J. Arora H, et al. Int J Dermatol. 2014 Jul;53(7):798-802. doi: 10.1111/ijd.12408. Epub 2014 Mar 6. Int J Dermatol. 2014. PMID: 24602044 Review.
Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and re …
Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the …
Ashkenazi Jewish genetic disorders.
Charrow J. Charrow J. Fam Cancer. 2004;3(3-4):201-6. doi: 10.1007/s10689-004-9545-z. Fam Cancer. 2004. PMID: 15516842 Review.
The frequency of several genes responsible for 'single-gene' disorders and disease predispositions is higher among Ashkenazi Jews than among Sephardi Jews and non-Jews. The disparity is most likely the result of founder effect and genetic drift, rather than h …
The frequency of several genes responsible for 'single-gene' disorders and disease predispositions is higher among Ashkenaz
Dystonia.
Snaith A, Wade D. Snaith A, et al. BMJ Clin Evid. 2008 Sep 5;2008:1211. BMJ Clin Evid. 2008. PMID: 19445800 Free PMC article. Review.
It is more common in women, and some types of dystonia are more common in people of European Ashkenazi Jewish descent. METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of drug treatment …
It is more common in women, and some types of dystonia are more common in people of European Ashkenazi Jewish descent. METHODS …
Pharmacogenetics in Jewish populations.
Yang Y, Peter I, Scott SA. Yang Y, et al. Drug Metabol Drug Interact. 2014;29(4):221-33. doi: 10.1515/dmdi-2013-0069. Drug Metabol Drug Interact. 2014. PMID: 24867283 Free PMC article. Review.
Spanning over 2000 years, the Jewish population has a long history of migration, population bottlenecks, expansions, and geographical isolation, which has resulted in a unique genetic architecture among the Jewish people. As such, many Mendelian disease genes …
Spanning over 2000 years, the Jewish population has a long history of migration, population bottlenecks, expansions, and geographical …
Kaposi's sarcoma revisited.
Szajerka T, Jablecki J. Szajerka T, et al. AIDS Rev. 2007 Oct-Dec;9(4):230-6. AIDS Rev. 2007. PMID: 18219366 Review.
It is divided into four distinct types regarding the affected population: classic in elder men of Ashkenazi Jewish and Mediterranean origin; endemic in African infants and young males; iatrogenic in patients under immunosuppressive regimens; epidemic in men having s …
It is divided into four distinct types regarding the affected population: classic in elder men of Ashkenazi Jewish and Mediter …
An overview of the worldwide distribution of LRRK2 mutations in Parkinson's disease.
El Otmani H, Daghi M, Tahiri Jouti N, Lesage S. El Otmani H, et al. Neurodegener Dis Manag. 2023 Dec;13(6):335-350. doi: 10.2217/nmt-2023-0025. Epub 2024 Feb 2. Neurodegener Dis Manag. 2023. PMID: 38305913 Review.
Parkinson's disease (PD) is a neurodegenerative disorder with significant genetic influence. ...Prevalence rates of Gly2019Ser are highest in North Africa and the Ashkenazi-Jewish population, indicating a potential common ancestor and founder effect. . …
Parkinson's disease (PD) is a neurodegenerative disorder with significant genetic influence. ...Prevalence rates of Gly2019Ser …
[Phosphofructokinase (PFK)].
Nakajima H. Nakajima H. Nihon Rinsho. 1995 May;53(5):1241-6. Nihon Rinsho. 1995. PMID: 7602786 Review. Japanese.
Up to now, gene defects of PFK deficient patients have been sought in 38 alleles from Japanese, Ashkenazi Jewish, Non-Ashkenazi Italian, French Canadian and Swiss patients and molecular heterogeneity has been elucidated. ...
Up to now, gene defects of PFK deficient patients have been sought in 38 alleles from Japanese, Ashkenazi Jewish, Non-Ashke
104 results