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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 450
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 2860
2006 2960
2007 2743
2008 2809
2009 2723
2010 3081
2011 3167
2012 3386
2013 3578
2014 3541
2015 3632
2016 3738
2017 3677
2018 3587
2019 3492
2020 3687
2021 3699
2022 3044
2023 268
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Search Results

96,984 results
Results by year
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Page 1
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.
Effective medical treatments need to be identified. 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....
Effective medical treatments need to be identified. Reports in the current issue of Blood describe novel UBA1 genetic variants, treat …
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 …
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 …
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 …
Genetic counselling in the era of genomic medicine.
Patch C, Middleton A. Patch C, et al. Br Med Bull. 2018 Jun 1;126(1):27-36. doi: 10.1093/bmb/ldy008. Br Med Bull. 2018. PMID: 29617718 Free PMC article. Review.
The skills of genetic counselling and expertise of genetic counsellors are integral to the effective implementation of genomic medicine. ...AREAS OF AGREEMENT: An international consensus on the definition of genetic counselling. Genetic counselling is …
The skills of genetic counselling and expertise of genetic counsellors are integral to the effective implementation of genomic …
Rare genetic diseases: update on diagnosis, treatment and online resources.
Pogue RE, Cavalcanti DP, Shanker S, Andrade RV, Aguiar LR, de Carvalho JL, Costa FF. Pogue RE, et al. Drug Discov Today. 2018 Jan;23(1):187-195. doi: 10.1016/j.drudis.2017.11.002. Epub 2017 Nov 10. Drug Discov Today. 2018. PMID: 29129805 Review.
Rare genetic diseases collectively impact a significant portion of the world's population. ...This leads to problems in genetic counseling and patient treatment. The biomedical market is affected because pharmaceutical and biotechnology industries do not see …
Rare genetic diseases collectively impact a significant portion of the world's population. ...This leads to problems in gen …
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 …
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 …
Mosaicism and clinical genetics.
Spinner NB, Conlin LK. Spinner NB, et al. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):397-405. doi: 10.1002/ajmg.c.31421. Epub 2014 Nov 25. Am J Med Genet C Semin Med Genet. 2014. PMID: 25424979 Review.
With the introduction of increasingly sensitive technologies for mutation detection such as chromosomal microarrays and next-generation sequencing, the importance of mosaicism for human disease is being more fully appreciated. Mosaicism can occur for any type of mutation, …
With the introduction of increasingly sensitive technologies for mutation detection such as chromosomal microarrays and next-generation sequ …
Genetic disorders.
Goss C. Goss C. JEMS. 2014 Feb;39(2):64-71. JEMS. 2014. PMID: 24660361 Review. No abstract available.
96,984 results
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