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

Year Number of Results
1967 1
1970 1
1971 1
1975 5
1976 6
1977 5
1978 3
1979 6
1980 4
1981 4
1982 9
1983 14
1984 9
1985 11
1986 17
1987 34
1988 33
1989 61
1990 43
1991 57
1992 60
1993 84
1994 111
1995 98
1996 112
1997 117
1998 143
1999 151
2000 161
2001 183
2002 168
2003 159
2004 182
2005 192
2006 190
2007 186
2008 172
2009 178
2010 197
2011 214
2012 220
2013 210
2014 233
2015 259
2016 229
2017 268
2018 242
2019 261
2020 254
2021 246
2022 217
2023 220
2024 47

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Search Results

5,772 results

Results by year

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Page 1
Genetics of Anxiety Disorders.
Meier SM, Deckert J. Meier SM, et al. Curr Psychiatry Rep. 2019 Mar 2;21(3):16. doi: 10.1007/s11920-019-1002-7. Curr Psychiatry Rep. 2019. PMID: 30826936 Review.
RECENT FINDINGS: A substantial portion of the variance in susceptibility risk can be explained by differential inherited and acquired genetic and epigenetic risk. Available data suggest that anxiety disorders are highly complex and polygenic. Despite the substantial …
RECENT FINDINGS: A substantial portion of the variance in susceptibility risk can be explained by differential inherited and acquired …
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.
Pareyson D, Marchesi C. Pareyson D, et al. Lancet Neurol. 2009 Jul;8(7):654-67. doi: 10.1016/S1474-4422(09)70110-3. Lancet Neurol. 2009. PMID: 19539237 Review.
Charcot-Marie-Tooth disease is the most common inherited neuromuscular disorder. There have been substantial advances in elucidating the molecular bases of this genetically heterogeneous neuropathy and, in most cases, molecular diagnosis is now possible. The diagnos …
Charcot-Marie-Tooth disease is the most common inherited neuromuscular disorder. There have been substantial advances in elucidating …
Malignant hyperthermia: a review.
Rosenberg H, Pollock N, Schiemann A, Bulger T, Stowell K. Rosenberg H, et al. Orphanet J Rare Dis. 2015 Aug 4;10:93. doi: 10.1186/s13023-015-0310-1. Orphanet J Rare Dis. 2015. PMID: 26238698 Free PMC article. Review.
The incidence of MH reactions ranges from 1:10,000 to 1: 250,000 anesthetics. However, the prevalence of the genetic abnormalities may be as great as one in 400 individuals. MH affects humans, certain pig breeds, dogs and horses. ...An increase in end-tidal carbon dioxide …
The incidence of MH reactions ranges from 1:10,000 to 1: 250,000 anesthetics. However, the prevalence of the genetic abnormalities ma …
Genes and mutations causing retinitis pigmentosa.
Daiger SP, Sullivan LS, Bowne SJ. Daiger SP, et al. Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. Clin Genet. 2013. PMID: 23701314 Free PMC article. Review.
Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutations, and highly varied clinical consequences. ...In this review, we summarize the current approaches to gene discovery and mutation detection for R …
Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutations, an …
CRISPR-Cas9: A History of Its Discovery and Ethical Considerations of Its Use in Genome Editing.
Gostimskaya I. Gostimskaya I. Biochemistry (Mosc). 2022 Aug;87(8):777-788. doi: 10.1134/S0006297922080090. Biochemistry (Mosc). 2022. PMID: 36171658 Free PMC article. Review.
For the first time in history a Nobel prize was awarded to two women, Emmanuelle Charpentier and Jennifer Doudna, who made key discoveries in the field of DNA manipulation with the CRISPR-Cas9 system, so-called "genetic scissors". It is difficult to overestimate the import …
For the first time in history a Nobel prize was awarded to two women, Emmanuelle Charpentier and Jennifer Doudna, who made key discoveries i …
Genetics of lactase persistence and lactose intolerance.
Swallow DM. Swallow DM. Annu Rev Genet. 2003;37:197-219. doi: 10.1146/annurev.genet.37.110801.143820. Annu Rev Genet. 2003. PMID: 14616060 Review.
In other healthy humans, lactase activity persists at a high level throughout adult life, enabling them to digest lactose as adults. This dominantly inherited genetic trait is known as lactase persistence. The distribution of these different lactase phenotypes in hu …
In other healthy humans, lactase activity persists at a high level throughout adult life, enabling them to digest lactose as adults. This do …
Epigenetics: the link between nature and nurture.
Tammen SA, Friso S, Choi SW. Tammen SA, et al. Mol Aspects Med. 2013 Jul-Aug;34(4):753-64. doi: 10.1016/j.mam.2012.07.018. Epub 2012 Aug 10. Mol Aspects Med. 2013. PMID: 22906839 Free PMC article. Review.
Several areas of research have formed to study these epigenetic modifications, including DNA methylation, histone modifications, chromatin remodeling and microRNA (miRNA). The original definition of epigenetics incorporates inheritable but reversible phenomena that affect …
Several areas of research have formed to study these epigenetic modifications, including DNA methylation, histone modifications, chromatin r …
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.
Farncombe KM, Thain E, Barnett-Tapia C, Sadeghian H, Kim RH. Farncombe KM, et al. BMC Med Genomics. 2022 Jul 15;15(1):160. doi: 10.1186/s12920-022-01304-x. BMC Med Genomics. 2022. PMID: 35840934 Free PMC article. Review.
BACKGROUND: Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. LZTR1 variants have been recently described in patients with NS and schwannomatosis, but the association, inheritance pat …
BACKGROUND: Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascul …
Polygenic Epidemiology.
Dudbridge F. Dudbridge F. Genet Epidemiol. 2016 May;40(4):268-72. doi: 10.1002/gepi.21966. Epub 2016 Apr 7. Genet Epidemiol. 2016. PMID: 27061411 Free PMC article. Review.
Much of the genetic basis of complex traits is present on current genotyping products, but the individual variants that affect the traits have largely not been identified. Several traditional problems in genetic epidemiology have recently been addressed by assuming …
Much of the genetic basis of complex traits is present on current genotyping products, but the individual variants that affect the tr …
The cell-type-specificity of inherited predispositions to tumours: review and hypothesis.
Bignold LP. Bignold LP. Cancer Lett. 2004 Dec 28;216(2):127-46. doi: 10.1016/j.canlet.2004.07.037. Cancer Lett. 2004. PMID: 15533589 Review.
This paper reviews previously suggested mechanisms of the cell-type specificity of inherited predispositions to tumour. Models of tumour formation in predisposition syndromes are discussed, especially those involving a germline mutation (the first 'hit') of a tumour suppre …
This paper reviews previously suggested mechanisms of the cell-type specificity of inherited predispositions to tumour. Models of tum …
5,772 results