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Genome sequencing and implications for rare disorders.

Orphanet journal of rare diseases

Posey JE.
PMID: 31234920
Orphanet J Rare Dis. 2019 Jun 24;14(1):153. doi: 10.1186/s13023-019-1127-0.

The practice of genomic medicine stands to revolutionize our approach to medical care, and to realize this goal will require discovery of the relationship between rare variation at each of the ~ 20,000 protein-coding genes and their consequent impact...

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Posey JE. Genome sequencing and implications for rare disorders. Orphanet J Rare Dis. 2019;14(1):153doi: 10.1186/s13023-019-1127-0.
Posey, J. E. (2019). Genome sequencing and implications for rare disorders. Orphanet journal of rare diseases, 14(1), 153. https://doi.org/10.1186/s13023-019-1127-0
Posey, Jennifer E. "Genome sequencing and implications for rare disorders." Orphanet journal of rare diseases vol. 14,1 (2019): 153. doi: https://doi.org/10.1186/s13023-019-1127-0
Posey JE. Genome sequencing and implications for rare disorders. Orphanet J Rare Dis. 2019 Jun 24;14(1):153. doi: 10.1186/s13023-019-1127-0. PMID: 31234920; PMCID: PMC6591893.
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Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation.

Journal of neural transmission (Vienna, Austria : 1996)

Ohnmacht J, May P, Sinkkonen L, Krüger R.
PMID: 32248367
J Neural Transm (Vienna). 2020 May;127(5):729-748. doi: 10.1007/s00702-020-02184-0. Epub 2020 Apr 04.

Parkinson's disease (PD) is a neurodegenerative disorder caused by a complex interplay of genetic and environmental factors. For the stratification of PD patients and the development of advanced clinical trials, including causative treatments, a better understanding of the underlying...

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Ohnmacht J, May P, Sinkkonen L, et al. Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation. J Neural Transm (Vienna). 2020;127(5):729-748doi: 10.1007/s00702-020-02184-0.
Ohnmacht, J., May, P., Sinkkonen, L., & Krüger, R. (2020). Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation. Journal of neural transmission (Vienna, Austria : 1996), 127(5), 729-748. https://doi.org/10.1007/s00702-020-02184-0
Ohnmacht, Jochen, et al. "Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation." Journal of neural transmission (Vienna, Austria : 1996) vol. 127,5 (2020): 729-748. doi: https://doi.org/10.1007/s00702-020-02184-0
Ohnmacht J, May P, Sinkkonen L, Krüger R. Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation. J Neural Transm (Vienna). 2020 May;127(5):729-748. doi: 10.1007/s00702-020-02184-0. Epub 2020 Apr 04. PMID: 32248367; PMCID: PMC7242266.
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Association of polymorphisms in ADAMTS-7 gene with the susceptibility to coronary artery disease - a systematic review and meta-analysis.

Aging

Hosseini DK, Ataikia S, Hosseini HK, Han B, Sun H.
PMID: 33122452
Aging (Albany NY). 2020 Oct 29;12(20):20915-20923. doi: 10.18632/aging.104118. Epub 2020 Oct 29.

OBJECTIVE: To systematically review literature evidence to discover the association of ADAMTS7 (A Disintegrin And Metalloproteinase with Thrombospondin-like motifs 7) polymorphisms and the risk of developing CAD (coronary artery disease).DATA SOURCES: A related literature search in online databases, including...

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Hosseini DK, Ataikia S, Hosseini HK, et al. Association of polymorphisms in ADAMTS-7 gene with the susceptibility to coronary artery disease - a systematic review and meta-analysis. Aging (Albany NY). 2020;12(20):20915-20923doi: 10.18632/aging.104118.
Hosseini, D. K., Ataikia, S., Hosseini, H. K., Han, B., & Sun, H. (2020). Association of polymorphisms in ADAMTS-7 gene with the susceptibility to coronary artery disease - a systematic review and meta-analysis. Aging, 12(20), 20915-20923. https://doi.org/10.18632/aging.104118
Hosseini, Davood K, et al. "Association of polymorphisms in ADAMTS-7 gene with the susceptibility to coronary artery disease - a systematic review and meta-analysis." Aging vol. 12,20 (2020): 20915-20923. doi: https://doi.org/10.18632/aging.104118
Hosseini DK, Ataikia S, Hosseini HK, Han B, Sun H. Association of polymorphisms in ADAMTS-7 gene with the susceptibility to coronary artery disease - a systematic review and meta-analysis. Aging (Albany NY). 2020 Oct 29;12(20):20915-20923. doi: 10.18632/aging.104118. Epub 2020 Oct 29. PMID: 33122452; PMCID: PMC7655211.
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A current snapshot of common genomic variants contribution in psychiatric disorders.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Santoro ML, Moretti PN, Pellegrino R, Gadelha A, Abílio VC, Hayashi MA, Belangero SI, Hakonarson H.
PMID: 27486013
Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):997-1005. doi: 10.1002/ajmg.b.32475. Epub 2016 Aug 03.

In the past decade, numerous advances were achieved in psychiatric genetics. Particularly, the genome wide association studies (GWAS) have contributed to uncovering new genes and pathways associated to psychiatric disorders (PDs). At the same time, with increasing sample sizes...

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Santoro ML, Moretti PN, Pellegrino R, et al. A current snapshot of common genomic variants contribution in psychiatric disorders. Am J Med Genet B Neuropsychiatr Genet. 2016;171(8):997-1005doi: 10.1002/ajmg.b.32475.
Santoro, M. L., Moretti, P. N., Pellegrino, R., Gadelha, A., Abílio, V. C., Hayashi, M. A., Belangero, S. I., & Hakonarson, H. (2016). A current snapshot of common genomic variants contribution in psychiatric disorders. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 171(8), 997-1005. https://doi.org/10.1002/ajmg.b.32475
Santoro, Marcos L, et al. "A current snapshot of common genomic variants contribution in psychiatric disorders." American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 171,8 (2016): 997-1005. doi: https://doi.org/10.1002/ajmg.b.32475
Santoro ML, Moretti PN, Pellegrino R, Gadelha A, Abílio VC, Hayashi MA, Belangero SI, Hakonarson H. A current snapshot of common genomic variants contribution in psychiatric disorders. Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):997-1005. doi: 10.1002/ajmg.b.32475. Epub 2016 Aug 03. PMID: 27486013.
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Diabetes in China: Epidemiology and Genetic Risk Factors and Their Clinical Utility in Personalized Medication.

Diabetes

Hu C, Jia W.
PMID: 29263166
Diabetes. 2018 Jan;67(1):3-11. doi: 10.2337/dbi17-0013.

The incidence of type 2 diabetes (T2D) has rapidly increased over recent decades, and T2D has become a leading public health challenge in China. Compared with European descents, Chinese patients with T2D are diagnosed at a relatively young age...

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Hu C, Jia W. Diabetes in China: Epidemiology and Genetic Risk Factors and Their Clinical Utility in Personalized Medication. Diabetes. 2018;67(1):3-11doi: 10.2337/dbi17-0013.
Hu, C., & Jia, W. (2018). Diabetes in China: Epidemiology and Genetic Risk Factors and Their Clinical Utility in Personalized Medication. Diabetes, 67(1), 3-11. https://doi.org/10.2337/dbi17-0013
Hu, Cheng, and Jia, Weiping. "Diabetes in China: Epidemiology and Genetic Risk Factors and Their Clinical Utility in Personalized Medication." Diabetes vol. 67,1 (2018): 3-11. doi: https://doi.org/10.2337/dbi17-0013
Hu C, Jia W. Diabetes in China: Epidemiology and Genetic Risk Factors and Their Clinical Utility in Personalized Medication. Diabetes. 2018 Jan;67(1):3-11. doi: 10.2337/dbi17-0013. PMID: 29263166.
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Associations between genetic risk variants for kidney diseases and kidney disease etiology.

Scientific reports

Wunnenburger S, Schultheiss UT, Walz G, Hausknecht B, Ekici AB, Kronenberg F, Eckardt KU, Köttgen A, Wuttke M.
PMID: 29066732
Sci Rep. 2017 Oct 24;7(1):13944. doi: 10.1038/s41598-017-13356-6.

Chronic kidney disease (CKD) is a global health problem with a genetic component. Genome-wide association studies have identified variants associated with specific CKD etiologies, but their genetic overlap has not been well studied. This study examined SNP associations across...

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Wunnenburger S, Schultheiss UT, Walz G, et al. Associations between genetic risk variants for kidney diseases and kidney disease etiology. Sci Rep. 2017;7(1):13944doi: 10.1038/s41598-017-13356-6.
Wunnenburger, S., Schultheiss, U. T., Walz, G., Hausknecht, B., Ekici, A. B., Kronenberg, F., Eckardt, K. U., Köttgen, A., & Wuttke, M. (2017). Associations between genetic risk variants for kidney diseases and kidney disease etiology. Scientific reports, 7(1), 13944. https://doi.org/10.1038/s41598-017-13356-6
Wunnenburger, Sebastian, et al. "Associations between genetic risk variants for kidney diseases and kidney disease etiology." Scientific reports vol. 7,1 (2017): 13944. doi: https://doi.org/10.1038/s41598-017-13356-6
Wunnenburger S, Schultheiss UT, Walz G, Hausknecht B, Ekici AB, Kronenberg F, Eckardt KU, Köttgen A, Wuttke M. Associations between genetic risk variants for kidney diseases and kidney disease etiology. Sci Rep. 2017 Oct 24;7(1):13944. doi: 10.1038/s41598-017-13356-6. PMID: 29066732; PMCID: PMC5655008.
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An update on the genetics of dementia with Lewy bodies.

Parkinsonism & related disorders

Vergouw LJM, van Steenoven I, van de Berg WDJ, Teunissen CE, van Swieten JC, Bonifati V, Lemstra AW, de Jong FJ.
PMID: 28734699
Parkinsonism Relat Disord. 2017 Oct;43:1-8. doi: 10.1016/j.parkreldis.2017.07.009. Epub 2017 Jul 13.

The genetic architecture of dementia with Lewy bodies (DLB) is increasingly taking shape. Initially, genetic research focused mainly on linkage and candidate gene studies in small series of DLB patients. More recently, association and exome sequencing studies in larger...

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Vergouw LJM, van Steenoven I, van de Berg WDJ, et al. An update on the genetics of dementia with Lewy bodies. Parkinsonism Relat Disord. 2017;43:1-8doi: 10.1016/j.parkreldis.2017.07.009.
Vergouw, L. J. M., van Steenoven, I., van de Berg, W. D. J., Teunissen, C. E., van Swieten, J. C., Bonifati, V., Lemstra, A. W., & de Jong, F. J. (2017). An update on the genetics of dementia with Lewy bodies. Parkinsonism & related disorders, 431-8. https://doi.org/10.1016/j.parkreldis.2017.07.009
Vergouw, Leonie J M, et al. "An update on the genetics of dementia with Lewy bodies." Parkinsonism & related disorders vol. 43 (2017): 1-8. doi: https://doi.org/10.1016/j.parkreldis.2017.07.009
Vergouw LJM, van Steenoven I, van de Berg WDJ, Teunissen CE, van Swieten JC, Bonifati V, Lemstra AW, de Jong FJ. An update on the genetics of dementia with Lewy bodies. Parkinsonism Relat Disord. 2017 Oct;43:1-8. doi: 10.1016/j.parkreldis.2017.07.009. Epub 2017 Jul 13. PMID: 28734699.
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Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies.

Epilepsia

Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D.
PMID: 30341947
Epilepsia. 2018 Nov;59(11):2145-2152. doi: 10.1111/epi.14579. Epub 2018 Oct 20.

OBJECTIVE: Increasing availability of surgically resected brain tissue from patients with focal epilepsy and focal cortical dysplasia or low-grade glioneuronal tumors has fostered large-scale genetic examination. However, assessment of pathogenicity of germ line and somatic variants remains difficult. Here,...

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Niestroj LM, Du J, Nothnagel M, et al. Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia. 2018;59(11):2145-2152doi: 10.1111/epi.14579.
Niestroj, L. M., Du, J., Nothnagel, M., May, P., Palotie, A., Daly, M. J., Nürnberg, P., Blümcke, I., & Lal, D. (2018). Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia, 59(11), 2145-2152. https://doi.org/10.1111/epi.14579
Niestroj, Lisa-Marie, et al. "Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies." Epilepsia vol. 59,11 (2018): 2145-2152. doi: https://doi.org/10.1111/epi.14579
Niestroj LM, Du J, Nothnagel M, May P, Palotie A, Daly MJ, Nürnberg P, Blümcke I, Lal D. Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies. Epilepsia. 2018 Nov;59(11):2145-2152. doi: 10.1111/epi.14579. Epub 2018 Oct 20. PMID: 30341947.
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Gene × Environment Interactions: From Molecular Mechanisms to Behavior.

Annual review of psychology

Halldorsdottir T, Binder EB.
PMID: 27732803
Annu Rev Psychol. 2017 Jan 03;68:215-241. doi: 10.1146/annurev-psych-010416-044053. Epub 2016 Sep 30.

Gene-by-environment interactions (G×Es) can provide important biological insights into psychiatric disorders and may consequently have direct clinical implications. In this review, we begin with an overview of the major challenges G×E studies have faced (e.g., difficulties replicating findings and...

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Halldorsdottir T, Binder EB. Gene × Environment Interactions: From Molecular Mechanisms to Behavior. Annu Rev Psychol. 2016;68:215-241doi: 10.1146/annurev-psych-010416-044053.
Halldorsdottir, T., & Binder, E. B. (2017). Gene × Environment Interactions: From Molecular Mechanisms to Behavior. Annual review of psychology, 68215-241. https://doi.org/10.1146/annurev-psych-010416-044053
Halldorsdottir, Thorhildur, and Binder, Elisabeth B. "Gene × Environment Interactions: From Molecular Mechanisms to Behavior." Annual review of psychology vol. 68 (2017): 215-241. doi: https://doi.org/10.1146/annurev-psych-010416-044053
Halldorsdottir T, Binder EB. Gene × Environment Interactions: From Molecular Mechanisms to Behavior. Annu Rev Psychol. 2017 Jan 03;68:215-241. doi: 10.1146/annurev-psych-010416-044053. Epub 2016 Sep 30. PMID: 27732803.
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Copy number variants in autism spectrum disorders.

Progress in neuro-psychopharmacology & biological psychiatry

Vicari S, Napoli E, Cordeddu V, Menghini D, Alesi V, Loddo S, Novelli A, Tartaglia M.
PMID: 30797015
Prog Neuropsychopharmacol Biol Psychiatry. 2019 Jun 08;92:421-427. doi: 10.1016/j.pnpbp.2019.02.012. Epub 2019 Feb 20.

In recent years, there has been an explosive increase in genetic studies related to autism spectrum disorder (ASD). This implicated the accumulation of a large amount of molecular data that may be used to verify various hypotheses and models...

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Vicari S, Napoli E, Cordeddu V, et al. Copy number variants in autism spectrum disorders. Prog Neuropsychopharmacol Biol Psychiatry. 2019;92:421-427doi: 10.1016/j.pnpbp.2019.02.012.
Vicari, S., Napoli, E., Cordeddu, V., Menghini, D., Alesi, V., Loddo, S., Novelli, A., & Tartaglia, M. (2019). Copy number variants in autism spectrum disorders. Progress in neuro-psychopharmacology & biological psychiatry, 92421-427. https://doi.org/10.1016/j.pnpbp.2019.02.012
Vicari, Stefano, et al. "Copy number variants in autism spectrum disorders." Progress in neuro-psychopharmacology & biological psychiatry vol. 92 (2019): 421-427. doi: https://doi.org/10.1016/j.pnpbp.2019.02.012
Vicari S, Napoli E, Cordeddu V, Menghini D, Alesi V, Loddo S, Novelli A, Tartaglia M. Copy number variants in autism spectrum disorders. Prog Neuropsychopharmacol Biol Psychiatry. 2019 Jun 08;92:421-427. doi: 10.1016/j.pnpbp.2019.02.012. Epub 2019 Feb 20. PMID: 30797015.
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Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization.

Nature communications

Pathak GA, Singh K, Miller-Fleming TW, Wendt FR, Ehsan N, Hou K, Johnson R, Lu Z, Gopalan S, Yengo L, Mohammadi P, Pasaniuc B, Polimanti R, Davis LK, Mancuso N.
PMID: 34315903
Nat Commun. 2021 Jul 27;12(1):4569. doi: 10.1038/s41467-021-24824-z.

Despite rapid progress in characterizing the role of host genetics in SARS-Cov-2 infection, there is limited understanding of genes and pathways that contribute to COVID-19. Here, we integrate a genome-wide association study of COVID-19 hospitalization (7,885 cases and 961,804...

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Pathak GA, Singh K, Miller-Fleming TW, et al. Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization. Nat Commun. 2021;12(1):4569doi: 10.1038/s41467-021-24824-z.
Pathak, G. A., Singh, K., Miller-Fleming, T. W., Wendt, F. R., Ehsan, N., Hou, K., Johnson, R., Lu, Z., Gopalan, S., Yengo, L., Mohammadi, P., Pasaniuc, B., Polimanti, R., Davis, L. K., & Mancuso, N. (2021). Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization. Nature communications, 12(1), 4569. https://doi.org/10.1038/s41467-021-24824-z
Pathak, Gita A, et al. "Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization." Nature communications vol. 12,1 (2021): 4569. doi: https://doi.org/10.1038/s41467-021-24824-z
Pathak GA, Singh K, Miller-Fleming TW, Wendt FR, Ehsan N, Hou K, Johnson R, Lu Z, Gopalan S, Yengo L, Mohammadi P, Pasaniuc B, Polimanti R, Davis LK, Mancuso N. Integrative genomic analyses identify susceptibility genes underlying COVID-19 hospitalization. Nat Commun. 2021 Jul 27;12(1):4569. doi: 10.1038/s41467-021-24824-z. PMID: 34315903; PMCID: PMC8316582.
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Genetic Architecture of Depression: Where Do We Stand Now?.

Advances in experimental medicine and biology

Unal-Aydin P, Aydin O, Arslan A.
PMID: 33834402
Adv Exp Med Biol. 2021;1305:203-230. doi: 10.1007/978-981-33-6044-0_12.

The research of depression genetics has been occupied by historical candidate genes which were tested by candidate gene association studies. However, these studies were mostly not replicable. Thus, genetics of depression have remained elusive for a long time. As...

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Unal-Aydin P, Aydin O, Arslan A. Genetic Architecture of Depression: Where Do We Stand Now?. Adv Exp Med Biol. 2021;1305:203-230doi: 10.1007/978-981-33-6044-0_12.
Unal-Aydin, P., Aydin, O., & Arslan, A. (2021). Genetic Architecture of Depression: Where Do We Stand Now?. Advances in experimental medicine and biology, 1305203-230. https://doi.org/10.1007/978-981-33-6044-0_12
Unal-Aydin, Pinar, et al. "Genetic Architecture of Depression: Where Do We Stand Now?." Advances in experimental medicine and biology vol. 1305 (2021): 203-230. doi: https://doi.org/10.1007/978-981-33-6044-0_12
Unal-Aydin P, Aydin O, Arslan A. Genetic Architecture of Depression: Where Do We Stand Now?. Adv Exp Med Biol. 2021;1305:203-230. doi: 10.1007/978-981-33-6044-0_12. PMID: 33834402.
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Showing 97 to 108 of 108 entries