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

Year Number of Results
1896 1
1911 1
1921 3
1922 1
1925 6
1926 6
1927 7
1928 6
1929 3
1930 3
1931 4
1932 4
1933 6
1934 10
1935 10
1936 10
1937 3
1938 8
1939 4
1940 3
1941 2
1942 6
1943 6
1944 5
1945 7
1946 23
1947 37
1948 26
1949 34
1950 34
1951 51
1952 48
1953 50
1954 48
1955 55
1956 73
1957 51
1958 76
1959 76
1960 77
1961 99
1962 120
1963 151
1964 152
1965 188
1966 210
1967 226
1968 246
1969 334
1970 342
1971 297
1972 370
1973 375
1974 412
1975 952
1976 1016
1977 1059
1978 1213
1979 1324
1980 1488
1981 1569
1982 1654
1983 1935
1984 2023
1985 2075
1986 2247
1987 2380
1988 2445
1989 2867
1990 2987
1991 3118
1992 3189
1993 4231
1994 3679
1995 3989
1996 4423
1997 4692
1998 5272
1999 5475
2000 6044
2001 6378
2002 6775
2003 7218
2004 8105
2005 9164
2006 10260
2007 11289
2008 12307
2009 13369
2010 14535
2011 16279
2012 17682
2013 18724
2014 19952
2015 21093
2016 21650
2017 22482
2018 23810
2019 26100
2020 29951
2021 37226
2022 42238
2023 39176
2024 13631

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474,958 results

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The following term was not found in PubMed: 32098966rmline
Page 1
Stickler Syndrome.
Mortier G. Mortier G. 2000 Jun 9 [updated 2023 Sep 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Jun 9 [updated 2023 Sep 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301479 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of Stickler syndrome can be established in a proband with characteristic clinical features and/or a heterozygous pathogenic variant in COL2A1, COL11A1, or COL11A2 or biallelic pathogenic variants in COL9A1, COL9A2, or COL9A3 identifi …
DIAGNOSIS/TESTING: The diagnosis of Stickler syndrome can be established in a proband with characteristic clinical features and/or a heteroz …
Familial Hypercholesterolemia.
Ison HE, Clarke SL, Knowles JW. Ison HE, et al. 2014 Jan 2 [updated 2022 Jul 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Jan 2 [updated 2022 Jul 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24404629 Free Books & Documents. Review.
The genetic status of at-risk family members can be clarified by either: (1) molecular genetic testing if the pathogenic variant(s) has been identified in an affected family member; or (2) measurement of LDL-C concentration. ...Carrier testing for at-risk relatives …
The genetic status of at-risk family members can be clarified by either: (1) molecular genetic testing if the pathogenic variant(s
Omicron variant genome evolution and phylogenetics.
Kandeel M, Mohamed MEM, Abd El-Lateef HM, Venugopala KN, El-Beltagi HS. Kandeel M, et al. J Med Virol. 2022 Apr;94(4):1627-1632. doi: 10.1002/jmv.27515. Epub 2021 Dec 15. J Med Virol. 2022. PMID: 34888894 Free PMC article.
This new variant showed marked degree of mutation, compared with the previous SARS-CoV-2 variants. ...A genome alignment with other variants indicated the greatest number of gaps in the Omicron variant's genome ranging from 43 to 63 gaps. ...
This new variant showed marked degree of mutation, compared with the previous SARS-CoV-2 variants. ...A genome alignment with …
Genetic Basis of Polycystic Ovary Syndrome (PCOS): Current Perspectives.
Khan MJ, Ullah A, Basit S. Khan MJ, et al. Appl Clin Genet. 2019 Dec 24;12:249-260. doi: 10.2147/TACG.S200341. eCollection 2019. Appl Clin Genet. 2019. PMID: 31920361 Free PMC article. Review.
However, studies conducted on PCOS patients from multiple families failed to find a fully penetrant variant(s). The present study was designed to review the current genetic understanding of the disease. In the present review, we have discussed the clinical spectrum, …
However, studies conducted on PCOS patients from multiple families failed to find a fully penetrant variant(s). The present st …
Genetic Atypical Hemolytic-Uremic Syndrome.
Noris M, Bresin E, Mele C, Remuzzi G. Noris M, et al. 2007 Nov 16 [updated 2021 Sep 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 Nov 16 [updated 2021 Sep 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301541 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of genetic aHUS is established in a proband with aHUS by identification of a pathogenic variant(s) in one or more of the genes known to be associated with genetic aHUS. ...Once the aHUS-related pathogenic variant(s) hav …
DIAGNOSIS/TESTING: The diagnosis of genetic aHUS is established in a proband with aHUS by identification of a pathogenic variant(s
Chronic Granulomatous Disease.
Leiding JW, Holland SM. Leiding JW, et al. 2012 Aug 9 [updated 2022 Apr 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Aug 9 [updated 2022 Apr 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22876374 Free Books & Documents. Review.
Once the CGD-causing pathogenic variant(s) have been identified in an affected family member, prenatal and preimplantation genetic testing are possible. (Other prenatal testing options may be available if the pathogenic variant[s] in the family are not …
Once the CGD-causing pathogenic variant(s) have been identified in an affected family member, prenatal and preimplantation gen …
Genetics of recurrent pregnancy loss: a review.
Tise CG, Byers HM. Tise CG, et al. Curr Opin Obstet Gynecol. 2021 Apr 1;33(2):106-111. doi: 10.1097/GCO.0000000000000695. Curr Opin Obstet Gynecol. 2021. PMID: 33605623 Review.
Herein, we review evidence that genetic changes, including pathogenic variant(s) in highly penetrant genes, may provide an explanation for a proportion of couples with pregnancy loss. ...SUMMARY: The journey of human development from a single-cell zygote to a term i …
Herein, we review evidence that genetic changes, including pathogenic variant(s) in highly penetrant genes, may provide an exp …
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency.
Balasubramanian R, Crowley WF Jr. Balasubramanian R, et al. 2007 May 23 [updated 2022 May 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2007 May 23 [updated 2022 May 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301509 Free Books & Documents. Review.
In individuals with confirmed IGD, monitor at regular intervals: serum sex steroid levels (to guide optimal hormone replacement); bone mineral density. Evaluation of relatives at risk: If the pathogenic variant(s) in a family are known, genetic testing of prepuberta …
In individuals with confirmed IGD, monitor at regular intervals: serum sex steroid levels (to guide optimal hormone replacement); bone miner …
Functional mapping and annotation of genetic associations with FUMA.
Watanabe K, Taskesen E, van Bochoven A, Posthuma D. Watanabe K, et al. Nat Commun. 2017 Nov 28;8(1):1826. doi: 10.1038/s41467-017-01261-5. Nat Commun. 2017. PMID: 29184056 Free PMC article.
A main challenge in genome-wide association studies (GWAS) is to pinpoint possible causal variants. Results from GWAS typically do not directly translate into causal variants because the majority of hits are in non-coding or intergenic regions, and the presence of l …
A main challenge in genome-wide association studies (GWAS) is to pinpoint possible causal variants. Results from GWAS typically do no …
Bestrophinopathies.
MacDonald IM, Lee T, Lawrence J. MacDonald IM, et al. 2003 Sep 30 [updated 2020 Jul 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Sep 30 [updated 2020 Jul 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301346 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of autosomal dominant bestrophinopathy is established in a proband with suggestive findings and a heterozygous BEST1 pathogenic (or likely pathogenic) variant identified by molecular genetic testing. The diagnosis of autosomal recessive bes …
DIAGNOSIS/TESTING: The diagnosis of autosomal dominant bestrophinopathy is established in a proband with suggestive findings and a heterozyg …
474,958 results
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