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1962
2025

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

Year Number of Results
1962 1
1963 108
1964 172
1965 148
1966 180
1967 239
1968 312
1969 330
1970 349
1971 387
1972 450
1973 447
1974 450
1975 357
1976 405
1977 333
1978 354
1979 356
1980 392
1981 441
1982 449
1983 509
1984 531
1985 596
1986 548
1987 775
1988 1118
1989 1260
1990 1254
1991 1406
1992 1622
1993 1750
1994 1708
1995 1980
1996 1900
1997 2006
1998 2288
1999 2164
2000 2425
2001 2733
2002 2379
2003 2455
2004 2491
2005 2725
2006 2781
2007 2603
2008 2616
2009 2559
2010 2906
2011 3001
2012 3194
2013 3379
2014 3344
2015 3413
2016 3528
2017 3475
2018 3394
2019 3276
2020 3487
2021 3472
2022 3152
2023 3145
2024 2999
2025 110

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97,857 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. DNA sequences encoding each human's complexity and many disease risks are contained in the mitochondrial genome, nuclear genome, and microbial metagenome. Diagnosis of these diseases has uni
Genetic diseases cause numerous complex and intractable pathologies. DNA sequences encoding each human's complexity and many d
VEXAS syndrome.
Grayson PC, Patel BA, Young NS. Grayson PC, et al. Blood. 2021 Jul 1;137(26):3591-3594. doi: 10.1182/blood.2021011455. Blood. 2021. PMID: 33971000 Free PMC article. Review.
Reports in the current issue of Blood describe novel UBA1 genetic variants, treatment options, and insight into disease pathophysiology. VEXAS syndrome represents a prototype for a new class of diseases....
Reports in the current issue of Blood describe novel UBA1 genetic variants, treatment options, and insight into disease pathophysiolo …
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 explores …
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 …
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 Free PMC article. Review. French.
The genetic disease spectrum in Tunisia arises from the founder effect, genetic drift, selection, and consanguinity. The latter represents a deviation from panmixia, characterized by a non-random matrimonial choice that may be subject to several rules, such as socio …
The genetic disease spectrum in Tunisia arises from the founder effect, genetic drift, selection, and consanguinity. The latte …
Genetics of obesity.
Campbell Am LV. Campbell Am LV. Aust Fam Physician. 2017;46(7):456-459. Aust Fam Physician. 2017. PMID: 28697287 Free article. Review.
OBJECTIVE: The objectives of this article are to review recent genetic discoveries about the basis of human obesity; describe familial or syndromic obesity, which is rare but presents early and should, if suspected, be referred for full specialist diagnosis of the underlyi …
OBJECTIVE: The objectives of this article are to review recent genetic discoveries about the basis of human obesity; describe familia …
Autoinflammatory diseases.
Grateau G. Grateau G. Acta Clin Belg. 2006 Sep-Oct;61(5):264-9. doi: 10.1179/acb.2006.045. Acta Clin Belg. 2006. PMID: 17240743 Review.
Autoinflammatory diseases can be specified as inborn errors of the innate immune system. The main component of autoinflammatory diseases is the group of hereditary periodic fevers which are characterised by intermittent bouts of clinical inflammation with foc …
Autoinflammatory diseases can be specified as inborn errors of the innate immune system. The main component of autoinflammator …
Genetic diseases mimicking multiple sclerosis.
Hsu CL, Iwanowski P, Hsu CH, Kozubski W. Hsu CL, et al. Postgrad Med. 2021 Sep;133(7):728-749. doi: 10.1080/00325481.2021.1945898. Epub 2021 Jul 6. Postgrad Med. 2021. PMID: 34152933 Review.
Extensive research over recent decades has expounded our insights into the presentations and diagnostic features of MS. Groups of genetic diseases, CADASIL and leukodystrophies, for example, have been frequently misdiagnosed with MS due to some overlapping clinical …
Extensive research over recent decades has expounded our insights into the presentations and diagnostic features of MS. Groups of genetic
Human gene therapy.
Verma IM, Naviaux RK. Verma IM, et al. Curr Opin Genet Dev. 1991 Jun;1(1):54-9. doi: 10.1016/0959-437x(91)80041-j. Curr Opin Genet Dev. 1991. PMID: 1840879 Review.
Somatic cell gene therapy for the correction of many human genetic diseases is now technically possible. We review several methods of gene transfer that have been successfully used in animal studies, and discuss the promise and potential limitations of these methods …
Somatic cell gene therapy for the correction of many human genetic diseases is now technically possible. We review several met …
Genetic tests for low- and middle-income countries: a literature review.
Maltese PE, Poplavskaia E, Malyutkina I, Sirocco F, Bonizzato A, Capodicasa N, Nicoulina SY, Salmina A, Aksutina N, Dundar M, Beccari T, Cecchin S, Bertelli M. Maltese PE, et al. Genet Mol Res. 2017 Feb 8;16(1). doi: 10.4238/gmr16019466. Genet Mol Res. 2017. PMID: 28198508 Free article. Review.
Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and treatment of genetic diseases is not a priority. ...The goal is to promote diagnosis of genetic
Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testi …
97,857 results
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