Personalized medicine in chronic kidney disease by detection of monogenic mutations
DM Connaughton, F Hildebrandt - Nephrology Dialysis …, 2020 - academic.oup.com
… In this review we will place emphasis on monogenic, single-gene disorders … or monogenic
disease (also known as a single-gene disorder), which results from a pathogenic mutation of a …
disease (also known as a single-gene disorder), which results from a pathogenic mutation of a …
Monogenic diabetes: genetics and relevance on diabetes mellitus personalized medicine
M Sousa, J Bruges-Armas - Current diabetes reviews, 2020 - ingentaconnect.com
… mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet 2006;
15(14): 2216-24. http://dx.doi.org/10.1093/hmg/ddl147 PMID: 16760222 [17] Mishra R, Chesi A, …
15(14): 2216-24. http://dx.doi.org/10.1093/hmg/ddl147 PMID: 16760222 [17] Mishra R, Chesi A, …
Personalized medicine in diabetes mellitus: current opportunities and future prospects
JW Kleinberger, TI Pollin - Annals of the New York Academy of …, 2015 - Wiley Online Library
… mutations of the mother and fetus appears important for ideal glycemic control during pregnancy,
given that maternal GCK mutations … personalized medicine in treatment of monogenic …
given that maternal GCK mutations … personalized medicine in treatment of monogenic …
Personalized medicine
JH Thrall - Radiology, 2004 - pubs.rsna.org
… monogenic inherited disorder—is known, but there are at least a dozen different possible
mutations (… The locations of the mutated genes in the monogenic (mendelian) diseases are …
mutations (… The locations of the mutated genes in the monogenic (mendelian) diseases are …
Personalized medicine: Genetic risk prediction of drug response
G Zhang, DW Nebert - Pharmacology & therapeutics, 2017 - Elsevier
… [a] Monogenic (Mendelian) traits include early examples mostly of inherited disorders, and …
of monogenic drug responses is relatively simple, involving detection of underlying mutations; …
of monogenic drug responses is relatively simple, involving detection of underlying mutations; …
[HTML][HTML] Monogenic diabetes: a gateway to precision medicine in diabetes
… ) caused by a mutation in a single gene … personalized medicine to patients with monogenic
diabetes faces challenges in two aspects: detecting patients suspected of having monogenic …
diabetes faces challenges in two aspects: detecting patients suspected of having monogenic …
[HTML][HTML] Precsion medicine of monogenic disorders: Lessons learned from the Saudi human genome
M Abedalthagafi - Frontiers in Bioscience-Landmark, 2019 - imrpress.com
… of disease-causing mutations, particularly in patients with monogenic disorders. While NGS
has … and the development of personalized medicine that may arise from this new knowledge. …
has … and the development of personalized medicine that may arise from this new knowledge. …
[HTML][HTML] A path towards personalized medicine for autoinflammatory and related diseases
JJ Miner, KA Fitzgerald - Nature Reviews Rheumatology, 2023 - nature.com
… mutations, including somatic mutations, are creating opportunities to develop personalized
medicines. … In this Perspective article, we highlight the ways in which monogenic autoimmune …
medicines. … In this Perspective article, we highlight the ways in which monogenic autoimmune …
Personalized medicine: hope or hype?
… monogenic disorders have already proven useful. Such changes may usher in a new era of
personalized medicine. … of colorectal cancers where activating mutations in KRAS have been …
personalized medicine. … of colorectal cancers where activating mutations in KRAS have been …
Pharmacogenomics: the promise of personalized medicine
L Mancinelli, M Cronin, W Sadée - Aaps Pharmsci, 2000 - Springer
… Family studies revealed that the metabolism of both drugs is under monogenic control and …
23% of Asians, resulting largely from a single base pair mutation (AĺG) in exon 5 of the coding …
23% of Asians, resulting largely from a single base pair mutation (AĺG) in exon 5 of the coding …
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