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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 2444
1989 2867
1990 2986
1991 3117
1992 3189
1993 4174
1994 3679
1995 3988
1996 4423
1997 4692
1998 5273
1999 5475
2000 6042
2001 6379
2002 6774
2003 7218
2004 8105
2005 9165
2006 10260
2007 11288
2008 12304
2009 13366
2010 14535
2011 16274
2012 17680
2013 18724
2014 19953
2015 21096
2016 21669
2017 22502
2018 23836
2019 26088
2020 29886
2021 37159
2022 17639
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Search Results

405,774 results
Results by year
Filters applied: . Clear all The following term was not found in PubMed: 32098966rmline
Page 1
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 …
Stickler Syndrome.
Robin NH, Moran RT, Ala-Kokko L. Robin NH, et al. 2000 Jun 9 [updated 2021 May 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2000 Jun 9 [updated 2021 May 6]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301479 Free Books & Documents. Review.
GENETIC COUNSELING: Stickler syndrome caused by pathogenic variants COL2A1, COL11A1, or COL11A2 is inherited in an autosomal dominant manner; Stickler syndrome caused by pathogenic variants in COL9A1, COL9A2, or COL9A3 is inherited in an autosomal recessive manner. …
GENETIC COUNSELING: Stickler syndrome caused by pathogenic variants COL2A1, COL11A1, or COL11A2 is inherited in an autosomal dominant …
Arrhythmogenic Right Ventricular Cardiomyopathy.
McNally E, MacLeod H, Dellefave-Castillo L. McNally E, et al. 2005 Apr 18 [updated 2017 May 25]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2005 Apr 18 [updated 2017 May 25]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301310 Free Books & Documents. Review.
A proband with autosomal dominant ARVC may have the disorder as a result of a de novo pathogenic variant. The proportion of cases caused by a de novo variant is unknown. ...Prenatal diagnosis for pregnancies at increased risk is possible if the pathogenic variant
A proband with autosomal dominant ARVC may have the disorder as a result of a de novo pathogenic variant. The proportion of cases cau …
Treacher Collins Syndrome.
Katsanis SH, Jabs EW. Katsanis SH, et al. 2004 Jul 20 [updated 2020 Aug 20]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2004 Jul 20 [updated 2020 Aug 20]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301704 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of TCS is established in about 97% of probands by detection of a heterozygous (autosomal dominant) pathogenic variant in TCOF1, POLR1D, or POLR1B or biallelic (autosomal recessive) pathogenic variants in POLR1C or POLR1D using molecu …
DIAGNOSIS/TESTING: The diagnosis of TCS is established in about 97% of probands by detection of a heterozygous (autosomal dominant) pathogen …
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, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2007 Nov 16 [updated 2021 Sep 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301541 Free Books & Documents. Review.
If both parents are known to be heterozygous for an autosomal recessive aHUS-related pathogenic variant, each sib of a proband has a 25% chance of inheriting two pathogenic variants, a 50% chance of inheriting one pathogenic variant, and a 25% chance of inher …
If both parents are known to be heterozygous for an autosomal recessive aHUS-related pathogenic variant, each sib of a proband has a …
The Pyrin Inflammasome in Health and Disease.
Schnappauf O, Chae JJ, Kastner DL, Aksentijevich I. Schnappauf O, et al. Front Immunol. 2019 Aug 7;10:1745. doi: 10.3389/fimmu.2019.01745. eCollection 2019. Front Immunol. 2019. PMID: 31456795 Free PMC article. Review.
They can be inherited either as a dominant or recessive trait depending on the variant's location and effect on the protein function. Mutations in the C-terminal B30.2 domain are usually considered recessive, although heterozygotes may manifest a biochemical or even …
They can be inherited either as a dominant or recessive trait depending on the variant's location and effect on the protein fu …
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.
Kobayashi Y, Yang S, Nykamp K, Garcia J, Lincoln SE, Topper SE. Kobayashi Y, et al. Genome Med. 2017 Feb 6;9(1):13. doi: 10.1186/s13073-017-0403-7. Genome Med. 2017. PMID: 28166811 Free PMC article.
BACKGROUND: The frequency of a variant in the general population is a key criterion used in the clinical interpretation of sequence variants. ...RESULTS: Of 1364 BRCA1 and BRCA2 variants that are well characterized as pathogenic or that are expected to lead t …
BACKGROUND: The frequency of a variant in the general population is a key criterion used in the clinical interpretation of sequence …
Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review.
Miller DB, Piccolo SR. Miller DB, et al. Front Genet. 2020 May 19;11:493. doi: 10.3389/fgene.2020.00493. eCollection 2020. Front Genet. 2020. PMID: 32508881 Free PMC article. Review.
Pathogenic germline variants have been identified for some pediatric cancer types but in most studies, CH variants are overlooked. Thus, the prevalence of pathogenic CH variants in most pediatric cancer types is unknown. We identified 26 studies (published be …
Pathogenic germline variants have been identified for some pediatric cancer types but in most studies, CH variants are overloo …
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 …
405,774 results
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