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

Year Number of Results
1972 1
1974 1
1975 8
1976 5
1977 12
1978 12
1979 7
1980 11
1981 7
1982 9
1983 18
1984 23
1985 18
1986 15
1987 13
1988 15
1989 28
1990 27
1991 18
1992 18
1993 26
1994 38
1995 30
1996 46
1997 58
1998 57
1999 56
2000 63
2001 68
2002 60
2003 79
2004 67
2005 88
2006 84
2007 92
2008 93
2009 107
2010 99
2011 107
2012 117
2013 131
2014 148
2015 130
2016 145
2017 155
2018 181
2019 162
2020 185
2021 177
2022 125
2023 120
2024 24

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3,070 results

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Quoted phrase not found in phrase index: "Not genetically inherited"
Page 1
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease.
Pareyson D, Marchesi C. Pareyson D, et al. Lancet Neurol. 2009 Jul;8(7):654-67. doi: 10.1016/S1474-4422(09)70110-3. Lancet Neurol. 2009. PMID: 19539237 Review.
Charcot-Marie-Tooth disease is the most common inherited neuromuscular disorder. There have been substantial advances in elucidating the molecular bases of this genetically heterogeneous neuropathy and, in most cases, molecular diagnosis is now possible. The diagnos …
Charcot-Marie-Tooth disease is the most common inherited neuromuscular disorder. There have been substantial advances in elucidating …
Therapy Approaches for Stargardt Disease.
Piotter E, McClements ME, MacLaren RE. Piotter E, et al. Biomolecules. 2021 Aug 9;11(8):1179. doi: 10.3390/biom11081179. Biomolecules. 2021. PMID: 34439845 Free PMC article. Review.
Despite being the most prevalent cause of inherited blindness in children, Stargardt disease is yet to achieve the same clinical trial success as has been achieved for other inherited retinal diseases. ...The advancing development of CRISPR-based molec …
Despite being the most prevalent cause of inherited blindness in children, Stargardt disease is yet to achieve the same clinical
Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations.
Cole JB, Florez JC, Hirschhorn JN. Cole JB, et al. Nat Commun. 2020 Mar 19;11(1):1467. doi: 10.1038/s41467-020-15193-0. Nat Commun. 2020. PMID: 32193382 Free PMC article.
Unhealthful dietary habits are leading risk factors for life-altering diseases and mortality. Large-scale biobanks now enable genetic analysis of traits with modest heritability, such as diet. ...We identify 814 associated loci, including olfactory receptor associations wi …
Unhealthful dietary habits are leading risk factors for life-altering diseases and mortality. Large-scale biobanks now enable genetic
Investigating the causal relationship between ankylosing spondylitis and osteoporosis in the European population: a bidirectional Mendelian randomization study.
Mei J, Hu H, Ding H, Huang Y, Zhang W, Chen X, Fang X. Mei J, et al. Front Immunol. 2023 Jun 8;14:1163258. doi: 10.3389/fimmu.2023.1163258. eCollection 2023. Front Immunol. 2023. PMID: 37359532 Free PMC article.
In addition, there is a study showing that OP is a risk factor for AS, but the causal relationship between them is not yet clear. Therefore, we conducted a bidirectional Mendelian randomization (MR) analysis to determine whether there is a direct causal effect between AS a …
In addition, there is a study showing that OP is a risk factor for AS, but the causal relationship between them is not yet clear. Therefore, …
Gene therapy for hemophilia.
Pipe SW. Pipe SW. Pediatr Blood Cancer. 2018 Feb;65(2). doi: 10.1002/pbc.26865. Epub 2017 Oct 27. Pediatr Blood Cancer. 2018. PMID: 29077262 Free article. Review.
Individuals with the inherited bleeding disorder hemophilia have achieved tremendous advances in clinical outcomes through widespread implementation of prophylactic replacement with safe and efficacious factor VIII and IX. ...The shift from protein replacement to ge …
Individuals with the inherited bleeding disorder hemophilia have achieved tremendous advances in clinical outcomes through wid …
Polygenic Epidemiology.
Dudbridge F. Dudbridge F. Genet Epidemiol. 2016 May;40(4):268-72. doi: 10.1002/gepi.21966. Epub 2016 Apr 7. Genet Epidemiol. 2016. PMID: 27061411 Free PMC article. Review.
Several traditional problems in genetic epidemiology have recently been addressed by assuming a polygenic basis for disease and treating it as a single entity. ...They have been used to establish a polygenic effect, estimate genetic correlation between traits, estim …
Several traditional problems in genetic epidemiology have recently been addressed by assuming a polygenic basis for disease and treat …
Treatable inherited rare movement disorders.
Jinnah HA, Albanese A, Bhatia KP, Cardoso F, Da Prat G, de Koning TJ, Espay AJ, Fung V, Garcia-Ruiz PJ, Gershanik O, Jankovic J, Kaji R, Kotschet K, Marras C, Miyasaki JM, Morgante F, Munchau A, Pal PK, Rodriguez Oroz MC, Rodríguez-Violante M, Schöls L, Stamelou M, Tijssen M, Uribe Roca C, de la Cerda A, Gatto EM; International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders. Jinnah HA, et al. Mov Disord. 2018 Jan;33(1):21-35. doi: 10.1002/mds.27140. Epub 2017 Sep 1. Mov Disord. 2018. PMID: 28861905 Free PMC article. Review.
In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and …
In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. …
Pharmacogenetics of Drugs Used in the Treatment of Cancers.
Franczyk B, Rysz J, Gluba-Brzózka A. Franczyk B, et al. Genes (Basel). 2022 Feb 7;13(2):311. doi: 10.3390/genes13020311. Genes (Basel). 2022. PMID: 35205356 Free PMC article. Review.
However, the adjustment of the appropriate dose is not so easy, due to the inheritance of specific polymorphisms in the genes encoding the target proteins and drug-metabolizing enzymes. ...
However, the adjustment of the appropriate dose is not so easy, due to the inheritance of specific polymorphisms in the genes encodin …
Your Heart Function Has Normalized-What Next After TRED-HF?
Kasiakogias A, Ragavan A, Halliday BP. Kasiakogias A, et al. Curr Heart Fail Rep. 2023 Dec;20(6):542-554. doi: 10.1007/s11897-023-00636-8. Epub 2023 Nov 24. Curr Heart Fail Rep. 2023. PMID: 37999902 Free PMC article. Review.
PURPOSE OF REVIEW: With the widespread implementation of contemporary disease-modifying heart failure therapy, the rates of normalization of ejection fraction are continuously increasing. The TRED-HF trial confirmed that heart failure remission rather than complete recover …
PURPOSE OF REVIEW: With the widespread implementation of contemporary disease-modifying heart failure therapy, the rates of normalization of …
Dyskeratosis congenita.
Gupta V, Kumar A. Gupta V, et al. Adv Exp Med Biol. 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. Adv Exp Med Biol. 2010. PMID: 20687509 Free article. Review.
Dyskeratosis congenita (DC) is an inheritable bone marrow failure syndrome characterized by reticulated hyperpigmentation, dystrophic nails and oral leukoplakia. ...Patients are also prone to carcinomas, particularly of the head and neck. The disease has X-linked or autoso …
Dyskeratosis congenita (DC) is an inheritable bone marrow failure syndrome characterized by reticulated hyperpigmentation, dystrophic …
3,070 results