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

Year Number of Results
1962 1
1963 110
1964 173
1965 149
1966 182
1967 240
1968 314
1969 330
1970 350
1971 389
1972 450
1973 449
1974 452
1975 361
1976 412
1977 337
1978 359
1979 363
1980 394
1981 446
1982 454
1983 519
1984 535
1985 604
1986 554
1987 797
1988 1142
1989 1295
1990 1285
1991 1444
1992 1667
1993 1801
1994 1753
1995 2062
1996 1979
1997 2077
1998 2392
1999 2291
2000 2569
2001 2858
2002 2491
2003 2602
2004 2659
2005 2861
2006 2960
2007 2743
2008 2809
2009 2723
2010 3081
2011 3167
2012 3387
2013 3578
2014 3541
2015 3632
2016 3739
2017 3678
2018 3585
2019 3492
2020 3689
2021 3712
2022 3340
2023 3199
2024 1691

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101,177 results

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Page 1
Genetic Disease and Therapy.
Roth TL, Marson A. Roth TL, et al. Annu Rev Pathol. 2021 Jan 24;16:145-166. doi: 10.1146/annurev-pathmechdis-012419-032626. Annu Rev Pathol. 2021. PMID: 33497260 Free PMC article. Review.
Genetic diseases cause numerous complex and intractable pathologies. ...However, translating specific genetic diagnoses into targeted genetic therapies remains a central goal. ...
Genetic diseases cause numerous complex and intractable pathologies. ...However, translating specific genetic diagnoses
Autonomic Peripheral Neuropathy.
Freeman R. Freeman R. Continuum (Minneap Minn). 2020 Feb;26(1):58-71. doi: 10.1212/CON.0000000000000825. Continuum (Minneap Minn). 2020. PMID: 31996622 Review.
RECENT FINDINGS: Recent findings in autonomic peripheral neuropathy include data on the epidemiology and atypical presentations of diabetic autonomic neuropathy, treatment-induced neuropathy of diabetes mellitus, the presentation of immune-mediated neuropathies, and advances in …
RECENT FINDINGS: Recent findings in autonomic peripheral neuropathy include data on the epidemiology and atypical presentations of diabetic …
The genetic basis of disease.
Jackson M, Marks L, May GHW, Wilson JB. Jackson M, et al. Essays Biochem. 2018 Dec 2;62(5):643-723. doi: 10.1042/EBC20170053. Print 2018 Dec 3. Essays Biochem. 2018. PMID: 30509934 Free PMC article. Review.
Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review e …
Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA function …
Human inborn errors of immunity: An expanding universe.
Notarangelo LD, Bacchetta R, Casanova JL, Su HC. Notarangelo LD, et al. Sci Immunol. 2020 Jul 10;5(49):eabb1662. doi: 10.1126/sciimmunol.abb1662. Sci Immunol. 2020. PMID: 32651211 Free PMC article. Review.
Molecular, cellular, and clinical studies of human inborn errors of immunity have revolutionized our understanding of their pathogenesis, considerably broadened their spectrum of immunological and clinical phenotypes, and enabled successful targeted therapeutic interventio …
Molecular, cellular, and clinical studies of human inborn errors of immunity have revolutionized our understanding of their pathogene …
Genetic Influences on Disease Subtypes.
Dahl A, Zaitlen N. Dahl A, et al. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:413-435. doi: 10.1146/annurev-genom-120319-095026. Annu Rev Genomics Hum Genet. 2020. PMID: 32873077 Review.
As technologies to measure and understand human phenotypes advanced, so too did classifications of disease, and the advent of genetic data has led to a surge in genetic subtyping in the past decades. ...We propose genetic heterogeneity as a gold standa …
As technologies to measure and understand human phenotypes advanced, so too did classifications of disease, and the advent of gene
[Genetics of tremor].
Kuhlenbäumer G, Hopfner F. Kuhlenbäumer G, et al. Nervenarzt. 2018 Apr;89(4):416-422. doi: 10.1007/s00115-017-0478-9. Nervenarzt. 2018. PMID: 29327099 Review. German.
BACKGROUND: Tremor is a symptom of many diseases and can constitute a disease of its own: essential tremor. ...Tremor should always be included in the examination and description of movement disorders even if tremor is not a cardinal symptom. Tremor might be helpful …
BACKGROUND: Tremor is a symptom of many diseases and can constitute a disease of its own: essential tremor. ...Tremor should a …
Management of Secondary Genomic Findings.
Katz AE, Nussbaum RL, Solomon BD, Rehm HL, Williams MS, Biesecker LG. Katz AE, et al. Am J Hum Genet. 2020 Jul 2;107(1):3-14. doi: 10.1016/j.ajhg.2020.05.002. Am J Hum Genet. 2020. PMID: 32619490 Free PMC article. Review.
This approach enumerates five domains of evaluation-(1) medical history, (2) physical exam, (3) family history, (4) diagnostic phenotypic testing, and (5) variant correlation-through which a clinician can distinguish a molecular finding from a clinicomolecular diagnosis of genomi …
This approach enumerates five domains of evaluation-(1) medical history, (2) physical exam, (3) family history, (4) diagnostic phenotypic te …
Consanguinty and its impact on health and genome dynamic: An example from Tunisia.
Mezzi N, Abassi N, Fatnassi F, Abdelhak S, Romdhane L. Mezzi N, et al. Tunis Med. 2024 May 5;102(5):256-265. doi: 10.62438/tunismed.v102i5.4787. Tunis Med. 2024. PMID: 38801282 Review. French.
The genetic disease spectrum in Tunisia arises from the founder effect, genetic drift, selection, and consanguinity. ...Similar to other Arab populations, Tunisia displays high consanguinity rates that vary geographically. Approximately 60% of reported dis
The genetic disease spectrum in Tunisia arises from the founder effect, genetic drift, selection, and consanguinity. .. …
Familial myelodysplastic syndrome/acute myeloid leukemia.
Churpek JE. Churpek JE. Best Pract Res Clin Haematol. 2017 Dec;30(4):287-289. doi: 10.1016/j.beha.2017.10.002. Epub 2017 Oct 4. Best Pract Res Clin Haematol. 2017. PMID: 29156196 Free PMC article. Review.
A growing number of inherited genetic loci that contribute to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) development in both children as well as adults are rapidly being identified. ...International collaborative efforts to store germline tissue, document fa …
A growing number of inherited genetic loci that contribute to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) development i …
Fasciculations in human hereditary disease.
Finsterer J, Aliyev R. Finsterer J, et al. Acta Neurol Belg. 2015 Jun;115(2):91-5. doi: 10.1007/s13760-014-0335-6. Epub 2014 Jul 30. Acta Neurol Belg. 2015. PMID: 25073774 Review.
Fasciculations are a manifestation of peripheral nerve hyperexcitability in addition to myokymia, neuromyotonia, cramps, or tetany. Fasciculations occur in hereditary and non-hereditary diseases. Among the hereditary diseases, fasciculations are …
Fasciculations are a manifestation of peripheral nerve hyperexcitability in addition to myokymia, neuromyotonia, cramps, or tetany. Fascicul …
101,177 results
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