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Year Number of Results
1941 1
1944 2
1945 127
1946 502
1947 563
1948 691
1949 619
1950 1105
1951 1415
1952 1511
1953 1543
1954 1641
1955 1774
1956 1846
1957 2103
1958 1983
1959 2061
1960 2109
1961 2435
1962 2790
1963 3898
1964 5384
1965 4600
1966 4129
1967 4946
1968 5658
1969 5612
1970 5791
1971 6201
1972 6214
1973 6149
1974 6564
1975 6127
1976 6137
1977 6383
1978 6328
1979 6587
1980 6815
1981 6937
1982 7420
1983 7525
1984 8022
1985 8468
1986 8561
1987 8878
1988 9328
1989 9785
1990 10236
1991 10469
1992 11297
1993 12116
1994 11707
1995 12327
1996 12631
1997 12840
1998 13894
1999 14248
2000 15106
2001 15550
2002 15142
2003 16040
2004 16494
2005 18392
2006 19425
2007 20234
2008 21663
2009 21678
2010 24169
2011 25904
2012 26781
2013 28143
2014 28997
2015 29097
2016 29006
2017 28768
2018 29939
2019 31239
2020 33392
2021 34377
2022 32205
2023 30899
2024 29973
2025 3413

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878,170 results

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Page 1
Genetic disorders.
Goss C. Goss C. JEMS. 2014 Feb;39(2):64-71. JEMS. 2014. PMID: 24660361 Review. No abstract available.
Genetic Disorders of the Extracellular Matrix.
Lamandé SR, Bateman JF. Lamandé SR, et al. Anat Rec (Hoboken). 2020 Jun;303(6):1527-1542. doi: 10.1002/ar.24086. Epub 2019 Mar 6. Anat Rec (Hoboken). 2020. PMID: 30768852 Free PMC article. Review.
Mutations in the genes for extracellular matrix (ECM) components cause a wide range of genetic connective tissues disorders throughout the body. The elucidation of mutations and their correlation with pathology has been instrumental in understanding the roles of man …
Mutations in the genes for extracellular matrix (ECM) components cause a wide range of genetic connective tissues disorders th …
Maternal genetic disorders and fetal development.
Mardy AH, Chetty SP, Norton ME. Mardy AH, et al. Prenat Diagn. 2020 Aug;40(9):1056-1065. doi: 10.1002/pd.5659. Epub 2020 Feb 12. Prenat Diagn. 2020. PMID: 32010984 Review.
With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are reaching reproductive age and becoming pregnant. ...Some maternal genetic disorders are associated with adverse perinatal outco …
With improvements in early diagnosis and management of genetic diseases, more women with genetic disorders are r …
Genetic disorders of nuclear receptors.
Achermann JC, Schwabe J, Fairall L, Chatterjee K. Achermann JC, et al. J Clin Invest. 2017 Apr 3;127(4):1181-1192. doi: 10.1172/JCI88892. Epub 2017 Apr 3. J Clin Invest. 2017. PMID: 28368288 Free PMC article. Review.
Following the first isolation of nuclear receptor (NR) genes, genetic disorders caused by NR gene mutations were initially discovered by a candidate gene approach based on their known roles in endocrine pathways and physiologic processes. Subsequently, the identific …
Following the first isolation of nuclear receptor (NR) genes, genetic disorders caused by NR gene mutations were initially dis …
Coatopathies: Genetic Disorders of Protein Coats.
Dell'Angelica EC, Bonifacino JS. Dell'Angelica EC, et al. Annu Rev Cell Dev Biol. 2019 Oct 6;35:131-168. doi: 10.1146/annurev-cellbio-100818-125234. Epub 2019 Aug 9. Annu Rev Cell Dev Biol. 2019. PMID: 31399000 Free PMC article. Review.
In humans, mutations in subunits of these coats cause various congenital diseases that are collectively referred to as coatopathies. In this article, we review the fundamental properties of protein coats and the diseases that result from mutation of their constituen …
In humans, mutations in subunits of these coats cause various congenital diseases that are collectively referred to as coatopathies. …
Genetic disorders associated with the RANKL/OPG/RANK pathway.
Xue JY, Ikegawa S, Guo L. Xue JY, et al. J Bone Miner Metab. 2021 Jan;39(1):45-53. doi: 10.1007/s00774-020-01148-4. Epub 2020 Sep 17. J Bone Miner Metab. 2021. PMID: 32940787 Review.
Mutations in TNFSF11, TNFRSF11B and TNFRSF11A cause defects in bone metabolism and development, thereby leading to skeletal disorders with changes in bone density and/or morphology. To date, nine kinds of monogenic skeletal diseases have been found to be causally as …
Mutations in TNFSF11, TNFRSF11B and TNFRSF11A cause defects in bone metabolism and development, thereby leading to skeletal disorders
Metabolic and genetic disorders mimicking cerebral palsy.
Hakami WS, Hundallah KJ, Tabarki BM. Hakami WS, et al. Neurosciences (Riyadh). 2019 Jul;24(3):155-163. doi: 10.17712/nsj.2019.3.20190045. Neurosciences (Riyadh). 2019. PMID: 31380813 Free PMC article. Review.
The aim of this review article is to identify the clinical features that should alert the physician to the possibility of disorders that resemble cerebral palsy, the clinical and neuroimaging red flags, and highlight some metabolic and genetic conditions which may p …
The aim of this review article is to identify the clinical features that should alert the physician to the possibility of disorders t …
Human DNA Mutations and their Impact on Genetic Disorders.
Samir S. Samir S. Recent Pat Biotechnol. 2024;18(4):288-315. doi: 10.2174/0118722083255081231020055309. Recent Pat Biotechnol. 2024. PMID: 37936448 Review.
Moreover, symptoms of genetic conditions depend on which gene has a mutation. There are many different diseases and conditions caused by mutations. ...The subject of patents pertaining to DNA mutations and genetic disorders has been brought up....
Moreover, symptoms of genetic conditions depend on which gene has a mutation. There are many different diseases and conditions …
Maternal Genetic Disorders in Pregnancy.
Harris S, Vora NL. Harris S, et al. Obstet Gynecol Clin North Am. 2018 Jun;45(2):249-265. doi: 10.1016/j.ogc.2018.01.010. Obstet Gynecol Clin North Am. 2018. PMID: 29747729 Free PMC article. Review.
The life expectancy and quality of life of women with genetic disorders continues to improve, resulting in more women reaching reproductive age and desiring fertility. It is becoming increasingly important that obstetricians become familiar with common genetic
The life expectancy and quality of life of women with genetic disorders continues to improve, resulting in more women reaching …
Next-generation therapeutics for rare genetic disorders.
Sankar A, Y S RK, Singh A, Roy R, Shukla R, Verma B. Sankar A, et al. Mutagenesis. 2024 Apr 24;39(3):157-171. doi: 10.1093/mutage/geae002. Mutagenesis. 2024. PMID: 38332115 Review.
The therapeutic potential of the human genome has been explored through the development of next-generation therapeutics, which have had a high impact on treating genetic disorders. Classical treatments have traditionally focused on common diseases that requir …
The therapeutic potential of the human genome has been explored through the development of next-generation therapeutics, which have had a hi …
878,170 results
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