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

Year Number of Results
1917 1
1922 1
1962 3
1965 1
1966 2
1967 3
1968 5
1969 14
1970 11
1971 17
1972 22
1973 22
1974 28
1975 44
1976 55
1977 46
1978 51
1979 67
1980 83
1981 94
1982 84
1983 134
1984 161
1985 171
1986 206
1987 212
1988 214
1989 280
1990 326
1991 384
1992 419
1993 594
1994 676
1995 640
1996 695
1997 741
1998 825
1999 976
2000 1160
2001 1231
2002 1140
2003 1322
2004 1605
2005 1351
2006 1360
2007 1343
2008 1459
2009 1688
2010 1829
2011 2028
2012 2172
2013 2271
2014 2407
2015 2608
2016 2619
2017 2517
2018 2608
2019 2674
2020 2447
2021 2152
2022 1382
2023 1189
2024 501

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48,169 results

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Page 1
A quantitative approach for measuring the reservoir of latent HIV-1 proviruses.
Bruner KM, Wang Z, Simonetti FR, Bender AM, Kwon KJ, Sengupta S, Fray EJ, Beg SA, Antar AAR, Jenike KM, Bertagnolli LN, Capoferri AA, Kufera JT, Timmons A, Nobles C, Gregg J, Wada N, Ho YC, Zhang H, Margolick JB, Blankson JN, Deeks SG, Bushman FD, Siliciano JD, Laird GM, Siliciano RF. Bruner KM, et al. Nature. 2019 Feb;566(7742):120-125. doi: 10.1038/s41586-019-0898-8. Epub 2019 Jan 30. Nature. 2019. PMID: 30700913 Free PMC article.
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y, Man J, Wan Y, Pan G, Du L, Li L, Yang Y, Qiu L, Gao Q, Dan H, Mao L, Cheng Z, Fan C, Yu J, Lin M, Kristiansen K, Shen Y, Wei X. Sun Y, et al. Sci Rep. 2018 Aug 3;8(1):11646. doi: 10.1038/s41598-018-30151-z. Sci Rep. 2018. PMID: 30076350 Free PMC article.
In this study, we introduced a new single-step method for the genetic analysis of patients and carriers in real clinical settings. All kinds of disease causing mutations can be detected at the same time in patients with Mendelian diseases or carriers. First, we eval …
In this study, we introduced a new single-step method for the genetic analysis of patients and carriers in real clinical settings. Al …
[Breast cancer in BRCA1/2 mutation carriers].
Fabian P, Nenutil R. Fabian P, et al. Cesk Patol. 2016 Fall;52(4):206-209. Cesk Patol. 2016. PMID: 27869445 Review. Czech.
In the contrary, the distribution of phenotypes of breast carcinomas in BRCA2 carriers is similar to distribution in the non-affected population. The lymphocytic lobulitis is observed significantly more often in non-cancerous breast tissue of BRCA1/2 mutation carriers
In the contrary, the distribution of phenotypes of breast carcinomas in BRCA2 carriers is similar to distribution in the non-affected …
Pancreatic ductal adenocarcinoma in BRCA2 mutation carriers.
de Mestier L, Danset JB, Neuzillet C, Rebours V, Cros J, Soufir N, Hammel P. de Mestier L, et al. Endocr Relat Cancer. 2016 Oct;23(10):T57-67. doi: 10.1530/ERC-16-0269. Epub 2016 Aug 10. Endocr Relat Cancer. 2016. PMID: 27511924 Review.
Germline BRCA2 mutations are the first known cause of inherited (familial) pancreatic ductal adenocarcinoma (PDAC). This tumor is the third most frequent cancer in carriers of germline BRCA2 mutations, as it occurs in around 10% of BRCA2 families. ...Based on recent develo …
Germline BRCA2 mutations are the first known cause of inherited (familial) pancreatic ductal adenocarcinoma (PDAC). This tumor is the third …
Melanoma cases demonstrate increased carrier frequency of phenylketonuria/hyperphenylalanemia mutations.
Arbesman J, Ravichandran S, Funchain P, Thompson CL. Arbesman J, et al. Pigment Cell Melanoma Res. 2018 Jul;31(4):529-533. doi: 10.1111/pcmr.12695. Epub 2018 Mar 12. Pigment Cell Melanoma Res. 2018. PMID: 29473999 Free PMC article.
Therefore, we sought to characterize the relationship between phenylketonuria carrier status and melanoma risk. Using National Newborn Screening Reports, we determined the United States phenylketonuria/hyperphenylalanemia carrier frequency in Caucasians to be 1.76%. …
Therefore, we sought to characterize the relationship between phenylketonuria carrier status and melanoma risk. Using National Newbor …
Pleiotropic cancer manifestations of germline CDH1 mutations: Risks and management.
Corso G. Corso G. J Surg Oncol. 2022 Jun;125(8):1326-1331. doi: 10.1002/jso.26847. Epub 2022 Mar 12. J Surg Oncol. 2022. PMID: 35277969 Free PMC article. Review.
In this clinical review, we described the penetrance risks of gastric, breast, prostate, and colorectal cancers, in CDH1 carriers, within as well as outside the familial setting, and the best approaches to manage each risk, using either prophylactic surgery or surveillance …
In this clinical review, we described the penetrance risks of gastric, breast, prostate, and colorectal cancers, in CDH1 carriers, wi …
Genetic control of resistance to salmonellosis and to Salmonella carrier-state in fowl: a review.
Calenge F, Kaiser P, Vignal A, Beaumont C. Calenge F, et al. Genet Sel Evol. 2010 Apr 29;42(1):11. doi: 10.1186/1297-9686-42-11. Genet Sel Evol. 2010. PMID: 20429884 Free PMC article. Review.
So far, several candidate genes and quantitative trait loci (QTL) for resistance to carrier state or to acute disease have been identified using artificial infection of S. enterica serovar Enteritidis or S. enterica serovar Typhimurium strains in diverse genetic bac …
So far, several candidate genes and quantitative trait loci (QTL) for resistance to carrier state or to acute disease have bee …
Hepatitis B and primary liver cancer.
Harrison TJ, Chen JY, Zuckerman AJ. Harrison TJ, et al. Cancer Treat Rev. 1986 Mar;13(1):1-16. doi: 10.1016/0305-7372(86)90011-3. Cancer Treat Rev. 1986. PMID: 3013403 Review. No abstract available.
The Li-Fraumeni syndrome.
Chompret A. Chompret A. Biochimie. 2002 Jan;84(1):75-82. doi: 10.1016/s0300-9084(01)01361-x. Biochimie. 2002. PMID: 11900879
As in sporadic tumors, loss of heterozygosity leading to the inactivation of the wild-type allele by deletion or mutation is observed in LFS tumors. Cancer-risk in mutation carriers has been estimated to be 73% in males and nearly 100% in females, the difference almost ent …
As in sporadic tumors, loss of heterozygosity leading to the inactivation of the wild-type allele by deletion or mutation is observed in LFS …
Clostridium difficile-associated diarrhea in adults.
Poutanen SM, Simor AE. Poutanen SM, et al. CMAJ. 2004 Jul 6;171(1):51-8. doi: 10.1503/cmaj.1031189. CMAJ. 2004. PMID: 15238498 Free PMC article. Review.
Diagnosis is based primarily on the detection of C. difficile toxin A or toxin B. First-line treatment is with oral metronidazole therapy. Treatment with oral vancomycin therapy should be reserved for patients who have contraindications or intolerance to metronidazole or w …
Diagnosis is based primarily on the detection of C. difficile toxin A or toxin B. First-line treatment is with oral metronidazole the …
48,169 results
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