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

Year Number of Results
1981 1
1985 1
1988 1
1991 1
1992 2
1993 2
1994 2
1995 2
1996 1
1998 4
1999 1
2001 2
2002 1
2003 2
2004 3
2005 1
2006 8
2007 6
2008 4
2009 4
2010 6
2011 10
2012 10
2013 14
2014 23
2015 22
2016 23
2017 10
2018 9
2019 11
2020 7
2021 9
2022 7
2023 8
2024 7

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202 results

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Page 1
Canadian 24-Hour Movement Guidelines for Children and Youth: An Integration of Physical Activity, Sedentary Behaviour, and Sleep.
Tremblay MS, Carson V, Chaput JP, Connor Gorber S, Dinh T, Duggan M, Faulkner G, Gray CE, Gruber R, Janson K, Janssen I, Katzmarzyk PT, Kho ME, Latimer-Cheung AE, LeBlanc C, Okely AD, Olds T, Pate RR, Phillips A, Poitras VJ, Rodenburg S, Sampson M, Saunders TJ, Stone JA, Stratton G, Weiss SK, Zehr L. Tremblay MS, et al. Appl Physiol Nutr Metab. 2016 Jun;41(6 Suppl 3):S311-27. doi: 10.1139/apnm-2016-0151. Appl Physiol Nutr Metab. 2016. PMID: 27306437 Free article.
ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
Rodríguez-Hidalgo M, de Bruijn SE, Corradi Z, Rodenburg K, Lara-López A, Valverde-Megías A, Ávila-Fernández A, Fernandez-Caballero L, Del Pozo-Valero M, Corominas J, Gilissen C, Irigoyen C, Cremers FPM, Ayuso C, Ruiz-Ederra J, Roosing S. Rodríguez-Hidalgo M, et al. Front Genet. 2023 Sep 7;14:1234032. doi: 10.3389/fgene.2023.1234032. eCollection 2023. Front Genet. 2023. PMID: 37779911 Free PMC article.
Results: Through the analysis of WGS data, we identified two candidate variants in ABCA4 in one proband: a previously described deletion, c.699_768+342del (p.(Gln234Phefs*5)), and a novel branchpoint variant, c.6480-35A>G. ...Subsequent analysis revealed the pres …
Results: Through the analysis of WGS data, we identified two candidate variants in ABCA4 in one proband: a previously described deletion, …
Predictive Value of SLCO1B1 c.521T>C Polymorphism on Observed Changes in the Treatment of 1136 Statin-Users.
Jansen ME, Rigter T, Fleur TMC, Souverein PC, Verschuren WMM, Vijverberg SJ, Swen JJ, Rodenburg W, Cornel MC. Jansen ME, et al. Genes (Basel). 2023 Feb 10;14(2):456. doi: 10.3390/genes14020456. Genes (Basel). 2023. PMID: 36833383 Free PMC article.
We aim to investigate the clinical validity and utility of pre-emptive pharmacogenomics screening in primary care, with SLCO1B1 c.521T>C as a risk factor for statin-induced adverse drug reactions. ...In our analyses, we could not confirm an association between th …
We aim to investigate the clinical validity and utility of pre-emptive pharmacogenomics screening in primary care, with SLCO1B1 c.521 …
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium. Viering D, et al. J Am Soc Nephrol. 2022 Feb;33(2):305-325. doi: 10.1681/ASN.2021050596. Epub 2021 Oct 4. J Am Soc Nephrol. 2022. PMID: 34607911 Free PMC article.
RESULTS: Genetic investigations revealed four mtDNA variants in 13 families: m.591C>T (n=7), m.616T>C (n=1), m.643A>G (n=1) (all in MT-TF), and m.4291T>C (n=4, in MT-TI). ...
RESULTS: Genetic investigations revealed four mtDNA variants in 13 families: m.591C>T (n=7), m.616T>C (n=1), m.643A>G (n=1) …
Lipid-lowering medications.
Rodenburg J, Vissers MN, Daniels SR, Wiegman A, Kastelein JJ. Rodenburg J, et al. Pediatr Endocrinol Rev. 2004 Nov;2 Suppl 1:171-80. Pediatr Endocrinol Rev. 2004. PMID: 16456497 Review.
For children older than 10 years, bile acid-binding resins were also recommended if LDL-C levels remained high after dietary adjustment. However, the lipid-lowering effect of bile acid-binding resins is modest at best and long-term compliance is often poor. ...
For children older than 10 years, bile acid-binding resins were also recommended if LDL-C levels remained high after dietary adjustme …
Sequence analysis of the non-recurring C-terminal domains shows that insect lipoprotein receptors constitute a distinct group of LDL receptor family members.
Rodenburg KW, Smolenaars MM, Van Hoof D, Van der Horst DJ. Rodenburg KW, et al. Insect Biochem Mol Biol. 2006 Apr;36(4):250-63. doi: 10.1016/j.ibmb.2006.01.003. Epub 2006 Jan 18. Insect Biochem Mol Biol. 2006. PMID: 16551539 Review.
The two N-terminal domains of LDLR family members are involved in ligand binding and dissociation, respectively, and are composed of a mosaic of multiple repeats. The three C-terminal domains, viz., the optional O-linked glycosylation domain, the transmembrane domain, and …
The two N-terminal domains of LDLR family members are involved in ligand binding and dissociation, respectively, and are composed of a mosai …
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free article.
One component of the Rag heterodimer is RagC (Ras-related GTP-binding protein C), which is encoded by the RRAGC gene. METHODS: Genetic testing via trio exome sequencing was applied to identify the underlying disease cause in 3 infants with dilated cardiomyopathy, hepatopat …
One component of the Rag heterodimer is RagC (Ras-related GTP-binding protein C), which is encoded by the RRAGC gene. METHODS: Geneti …
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.
Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ. Baertling F, et al. Hum Mutat. 2015 Jan;36(1):34-8. doi: 10.1002/humu.22715. Epub 2014 Nov 18. Hum Mutat. 2015. PMID: 25339201
COA6/C1ORF31 is involved in cytochrome c oxidase (complex IV) biogenesis. We present a new pathogenic COA6 variant detected in a patient with neonatal hypertrophic cardiomyopathy and isolated complex IV deficiency. ...
COA6/C1ORF31 is involved in cytochrome c oxidase (complex IV) biogenesis. We present a new pathogenic COA6 variant detected in a pati …
202 results